The Sea is So Wide

"Be kind to me Lord, for my boat is so small and the sea is so wide." - Irish prayer

This simple little prayer is something that can resonate with all of us. It calls to mind the feeling of despair and loneliness that washes over us when we are facing something that is just so much bigger than we are, that feels like it's so much more than we can handle. Our little boats could be so easily swallowed by the awesome power of our personal stormy sea: by Cancer, by ALD, by responsibilities that come with work or family or bills that pile up. But, it also calls to mind the feeling of awe that overcomes us when we are faced with our own minuteness, with the vastness of the universe, the enormity of life, the power of love and kindness, and the boundlessness of God. At once, it makes us think of despair and fear, of prayer and hope, but also of wonder and trust. I find this prayer running through my mind lately and it seems to be quite appropriate.

It's the middle of November and any of you who frequent Facebook are probably well aware of the "Month of Thankfulness" posts that people are posting every day. This is a little hard for me - not because I'm struggling to find things to say that I'm thankful for, but because there's just so much that I'm thankful for that it's hard to decide what to say that doesn't make me look vain. I'd look like a boob if everyday I posted about how glorious I think my life is. Smug is not a pretty color on anyone. I'm not smug, though, I'm just awestruck. My boat is so small and the sea is so wide - and stormy, and the waves are high and fast - but the Lord has been so kind to us and the stormy sea is so beautiful.

Cutler's cancer appears to be gone. Yes, I wrote that right. In all the striving to be hopeful and have faith, to just Keep Going, I barely noticed the sense of fear and expectation of the worst that I had been wearing around my shoulders like a heavy, smelly old shawl. It wasn't until it had been lifted away by the doctor's stunning news that I realized I had been carrying it around most of the time. We knew that his chemo appeared to be working because they began to be able to see brain features through the tumor tissue on MRIs. However, his seizures were still happening frequently and there have been some communication issues with his team that made things happen like him missing chemo doses every month. We didn't feel like we really knew what was going on with his tumor and his treatment plan, which is a terrible feeling. Knowledge really is power - it grants a feeling of stability, expectations, and tracked goals. A lack of understanding creates a feeling of powerlessness and raises fear.

So, because we didn't really know what was going on with him to begin with, and because this not-knowing created a glaze of bleakness, the announcement that his latest MRI is clear came as a total surprise. I cried, of course. Cutler told the children each separately as they came home from school. Cai screamed with glee and hugged him. Gabe, like me, cried and clung to him. Cutler's doctor (a wonderful, kind woman who we trust very much) plans to keep him on chemo for a while to mop up any cancer cells that may be remaining and are invisible to the MRI. She has a plan to get his seizures under control and will be adding some medications to help with memory and joint pain. To Cutler this meant that, seizures be damned, he was going to do everything in his power to get back to work.

Unable to drive and having multiple seizures a day, tired and sick from chemo, Cutler hasn't been able to
go to work. It's been driving him crazy being stuck at home. He loves his job and he loves interacting with people, so as soon as he heard that the tumor was gone and the doctor thinks they can get the seizures managed (though he'll always be a seizure risk), he started keeping a seizure diary for his neuro-oncologist and called his old boss. He was thrilled when they said that they would welcome him back. Now he's in the process of returning to work and eliminating the seizures as much as possible.

Gabe got some personal good news of his own this month: Make A Wish will be granting him one wish! Several of our friends and family members have expressed concern with this announcement that it might mean that Gabe has taken a turn for the worse. I assure you, this isn't the case. Gabe is still doing well. Make A Wish is a wonderful organization that grants wishes to children with life threatening illnesses and they spoke with his doctors and determined that he qualifies for a wish. Gabriel has been complaining of back and leg pain for a few months, and we have a neurology appointment in January to talk about nerves and spinal cord again, but his MRIs have remained blessedly clear. His school has been very helpful with maintaining his medication dosages during school hours and increasing them when he gets sick or injured on the playground.

Cutler and I discussed whether or not we should talk to Make a Wish about Gabe because he IS doing quite well compared to many boys who have ALD. But, the truth is that we have no way of knowing how long he will continue on this path of wellness: it could be forever or it could be months. Because there is no standard of pathology and no way of predicting his phenotype, we decided that the best thing to do is to let Gabe experience as much of life as he can while he's healthy and able to fully enjoy everything. Now is the time to live your dreams - not tomorrow, not when things get dire. Now. All we have is the present moment; don't put off living until later. You know, this really isn't a bad way to approach life in general for all of us, not just a good way to approach it for people who have life threatening condition. Life itself is a life-threatening condition.

Gabe received his wishing package in the mail and has been busy thinking up wishes in the categories that they gave (if I could do anything, be anything, go anywhere...). Gabe's ultimate wish is to travel the world and see other places and cultures. He wants to be a pilot so that he can fly himself around the globe. He would like to go to Venice, Rome, on Safari in Africa, meet and be blessed by Pope Francis... When we walked into his room to get some ideas of who Gabe is and what he likes to tell our Make a Wish contact during our phone interview, we saw three National Geographic magazines open on his dresser. Unfortunately, Make A Wish is a program with the limitations of most non-profits today. It's not realistic for them to send him on a world tour and the waiting list for wishes outside of the continental US is a minimum of three years. The wait time for wishes inside the continental US is 6 to 18 months. We don't know if we have three years. So, Gabe has an idea: maybe he can take a pretend world tour. Disney has the Animal Kingdom Lodge that can make him feel like he's on a safari (complete with zebras and giraffes outside your window), they have snorkeling in the Typhoon Lagoon.... If we can't bring him out to the world, maybe we can bring the world to him here in America.

Soon, we'll hear from a team of volunteers who will talk to Gabe about his biggest wishes and work with creative license to make one of them come true. Until then, we have some documents to gather and Gabe gets to have fun coming up with wishes and thinking about what he wants most in the world.

We're still taking it one day at a time and finding happiness together in the little things. I love my job with EMS and I love coming home to my family at the end of the day. Every day is better than the last. Our little boat gets tossed on the waves sometimes, but it sure is an amazing ride. And it sure is an adventure. And the Lord sure is kind.

A New School Year: Training Your Teacher Allies

The start of a new school year is full of excitement, anticipation, and a little apprehension. It’s the start of a new stage, a mile-marker, leveling up in the game of childhood. Buying the endless array of school supplies is a little painful to the wallet, but who can resist the rows of colorful pencils, the potential of packs of unopened paper, or the childlike thrill of picking out the notebook or folder that best represents who you are to your classmates. Battling the raging hordes of consumers is no fun, but helping the kids pick out their supplies is. I get nostalgic every time and start trying to think of excuses why I,too, might need three Superman notebooks and some smooth-writing mechanical pencils in four shades of glitter.

But for parents who have children with medical conditions and disabilities, the start of a school year means something else, too: educating the new teacher and staff about your child’s condition, daily needs, and their responsibilities. This can be a daunting task.

Last year was tough for Gabe. In retrospect, we know that he was struggling with symptoms of ALD for a long time and that they were becoming increasingly problematic as the school year progressed. We sought help and tried a variety of medications, but it wasn’t until his adrenal crisis and subsequent ALD diagnosis that we found out what was going on with him. Unfortunately, we had a negative experience with educating his teachers about ALD and Adrenal Insufficiency and ensuring their cooperation. It was the tail end of the year and Gabe had already been well and firmly established as “a problem.” When we explained his diagnosis, I don’t think that they were able to understand at first that problem behaviors (mood lability, difficulty concentrating, disorganization, ADHD behaviors that were unresponsive to medications…) were being caused by his condition and not by a personality flaw or failure of parenting. We clashed and argued several times between his diagnosis and the point at which they got it. Further complicating this was the fact that Cutler and I took for granted that the teachers would understand information that we passed on to them and would be able to draw accurate conclusions about his symptoms, medications, behavior, etc.

Eventually, 3 months after fighting for cooperation, the school understood how serious Gabe’s condition is. It took me practically blowing up in the office about Gabe being given his medication while on a school trip. The short of it is that they didn’t seem to take it seriously and then seemed surprised that I would refuse to allow him to go on the trip if he couldn’t take his medication. No one thought that was it was fair for him to miss the trip, but I was finally able to make them understand that this medication is extremely important – life or death important – and they made sure he would get his meds. After that, they called me every time Gabe got a bruise or fell on the playground. I’ll take overkill over nonchalance or medical negligence any day!

So, you can imagine the trepidation that I have with starting a new school year. I don’t want to go through that again!  I need for his teachers to be my allies, not to butt heads with them at every turn because they don’t understand his condition and needs. Gabe was originally assigned to a teacher I know and like, but the school decided to put all academically gifted students into one class. We found this out on Thursday evening, 3 days before the start of the new year. I was extremely anxious at first because I don’t know the new teacher at all.

I felt pretty bad about dropping a bomb on the new lady as soon as we walked through the door. Our introduction went something like this:

                    “Hi, we’re the Kornegays. This is our son, Gabriel. We’re very excited about the new school year and glad to meet you. Listen, we need to arrange a time to meet ASAP before school starts Monday. Gabriel has a degenerative genetic disease that causes a life-threatening condition called Adrenal Insufficiency. He needs to take daily medication at school and you will need to help him. He also has to have an emergency shot if he gets sick or hurt and we really need to train you on administration by the start of school. I’m an EMT and, unfortunately, I’m working this weekend so I can’t meet you until after 6pm. When can we talk?”

Mrs. M seemed, understandably,a little taken aback. I wasn’t sure if she was paying attention and wasn’t sure how much info to give her right off the bat. I’m sure I overwhelmed her, and she probably thought I was crazy, but it was necessary to arrange a meeting right away. What if he breaks his wrist the first day of school by jumping off the swing? She'll have to give the shot and call EMS. Because she couldn’t meet after 4pm and I couldn’t meet before 6:30pm (even later if late calls came in – which they did), we agreed to a conference Monday morning 45 minutes before school starts. The school nurse was, thankfully, on hand again and agreed to join us to talk about injection training and an IEP plan. The nurse had received her packet from Adrenal Insufficiency United! I encourage all parents of AI students to get a packet for their school. Order here:    Thanks, Jennifer Knapp of AI United !!

I am a list-maker. I write lists of every dang thing. It organizes my mind and determines my approach, helps me make sure I’m not forgetting anything… So, first I made a list of what lists I needed to make for the teacher! I decided against a food restrictions list. Gabe is educated enough about his diet and I can just tell her “low fat, no peanuts, no fried food, no grease, no junk” and that should suffice. Besides, we plan to pack his lunch. I decided that she needed a step-by-step list of instructions on the indications and administration of Solu-Cortef, his emergency med, a transport instruction and demographics sheet to give EMS if she has to call, and a list of daily medication instructions. NC Kid Base has an EXCELLENT form for children who are at more advanced stages of the disease. You can find that sheethere:

The sheet linked above has everything from basic info to special technologies and an anatomical figure to shade for diminished sensations, paralysis, and ports. The Transport/Demographics form that I created is much more simple and is suitable for children who, like Gabe, are less severely affected by ALD. It’s my opinion that this would save me, as a new EMT, time on-scene and I could probably transport faster if I have all the info I need already gathered for me (like when we respond to patients in healthcare facilities)

I found a great training video on administration of Solu-Cortef that I encourage everyone taking care of a child with AI to watch, whether they are a guardian, a teacher, an in-home health provider, or a babysitter.

I created a step-by-step instruction list based on this video. There is a step missing that appears in our IM injection protocols. This goes after inserting the needle and prior to depressing the plunger. It is to aspirate for blood. One would pull back a little on the plunger to see if blood enters the syringe. If you draw up blood, you’re in a blood vessel. Withdraw the needle and reinsert into muscle. The video leaves this step out. I talked to my paramedic training partner about it and it may be that this step is just confusing to a lay-person and appears to be unnecessary by CDC standards. So, if you’re not comfortable doing this you can probably skip it. Just be sure that you’ve inserted all the way into the muscle.

Lastly, I created a simple list of instructions for daily school medication administration and blood glucose testing. ALD parents, feel free to borrow any of these forms and modify them for your own use. 

Pencil cases make excellent emergency kit containers!  We picked up a couple of bright yellow-green soft box cases and turned them into kits. Inside is everything that the teacher would need to administer the dose (Solu-Cortef, syringe, gloves, 2x2 gauze, alcohol wipes, and bandaids - I went with Superman bandaids to remind Gabe that I love him and he's my strong superhero), a copy of the administration indications and instructions, and a copy of the EMS sheet.

By all appearance, the new teacher is eager to learn about what to do for Gabe, especially in an emergency. I’ve been exchanging emails with Mrs. M to educate her as simply and straightforwardly as I can about the disease and adrenal insufficiency and to provide her with the forms before the meeting. I’ll bring in hard copies for her to keep. This way, she will have time to formulate questions and we can make the meeting briefer so that she can start her first day with her new students on time. I appreciate that she is taking the time to meet with us and her response.

I feel prepared and positive about the new start! Good luck to all the returning students. I wish you a happy new school year full of fun and learning. And to you parents out there: I wish you a stress-free start, patience, and some quiet moments of peace.  

It's All in the Family (Except When it's Not)

Swimming, baseball, ice cream, fireworks, hot days and cold tea, visits with friends: these are some of the beautiful things about summer. Our busy summer has been filled with more than the usual amount of goodness; the support of family and friends and good news from so many sources. Our family was blessed to welcome the birth of another nephew, Logan Alexander Rogers, born to my sister Katie and her husband Bryan on May 31 (just 2 days after my birthday, which means that I can gift my birthday to him and I never have to age again…right?). Logan has a handsome, five year old big brother named Caden who is ALD negative. My mother, sisters, and new nephew will be DNA tested soon. We especially pray that the new baby boy is ALD negative.

Summer is my favorite time of year and we've been quite busy. I accepted a full time position as an EMT, a career that I am over-joyed to be in. Cutler and the kids participated in a very helpful family and friends CPR class. Everyone should know CPR! We took a day trip to the beach where Cai was the first to spot FOUR baby sea turtles.  Gabe even got to have a pool party birthday do-over and camp out on the Duham Bulls baseball field with the Boy Scouts!

After Cutler's first MRI since his brain cancer diagnosis in May, his neurologist said that the tumor doesn't appear to be growing. It hasn’t shrunk, either, but it’s still early in his treatment, so that is to be expected. He’s still having seizures, but that also is to be expected. He's in a catch-22 with those: tumor growth causes them, tumor death causes them, and having a tumor hang out in your brain causes them. All in all, his news is good news! We've had some trouble with getting his chemo to him on-time without him missing doses. Since he administers it himself, he has to reorder it through his doctor. For two months in a row, there have been communication issues between the pharmacy, the doctor's office, and the shipping pharmaceutical company, so his dose has been late. Last month, he missed a week but this month he only missed a day. We hope that since it's early in treatment, it won't make a major difference.

Gabe’s endocrinologist, Dr. Hart-Unger, is leaving and his next appointment in August will be with a new doctor. I’m sad to see her go and I hope that the new endocrinologist is as wonderful, personable, and accessible as Dr. Hart-Unger has been. Her final act for Gabe was to start him on Fludrocortisone because his body has begun to salt-waste. This is something that is typical in Adrenal Insufficiency, but she said that it happened a little faster than she expected.

We have been learning about the challenges that come with the Addison’s Disease component of ALD in the summer time. Apparently, Gabe is more susceptible to the heat and dehydration, needs to increase his sodium, may need to stress dose on very hot days. Sports drinks are good for sodium, but bad in that they have too much potassium - too much K could lead to hyperkalemia. We’re learning, but we’re not ready yet to send Gabe off to camp or to be baby-sat for extended periods of time.  I think he’s a little disappointed that he has these kinds of restrictions, but I think he seems to understand. He's a smart boy and he's been proactive about his health lately. We’re trying to make it up to him by doing fun things together.

We met with Gabe’s geneticist and she explained the genetic factors of ALD, the importance of getting my relatives tested (starting with my mother and sisters, then biological aunts and cousins, etc). She told us that it is not yet known what modifying genes are at work in ALD and that this may explain why some boys are severely affected while others less so.  Gabe’s mutation is new to the database and it’s predicted to be severe based on a computer model and since this is a new mutation, the computer doesn't know if it's like replacing the eggs and oil in a cake recipe with mayo (which is oil and eggs and won't ruin the cake) or with asparagus. She had the same opinion as the bone marrow team about Lorenzo’s Oil and diet: that there is no dietary therapy for ALD, LO is not proven to be effective, and that Gabe needs to be on a low-fat, heart-healthy diet. 

It took quite some time to hear the results of our daughter, Cai’s, DNA test and HLA typing results, but the verdict is in: Not only does Cai NOT have the mutation for ALD, she is also Gabe’s bone marrow match! This is the best possible news! This means, for her, that she will never pass this terrible disease to her children and she will never have to worry about developing carrier symptoms or AMN (Adrenomyeloneuropathy, a more mild form of ALD that affects the spine, peripheral nerves, bladder, and bowel). For Gabe it means that if he does begin to develop cerebral involvement, he can have a bone marrow transplant quickly without having to search the donor database for a match. We feel so incredibly blessed and fortunate that Cai is Gabe’s match; we’ve heard from other parents of boys with ALD who are not so fortunate as to have a match for their sons and my heart goes out to them.

My own DNA test results came back very quickly. I had the test done just before the 4^th of July holiday, so I expected to have additional delays beyond the month that it usually takes to get results. I had them back in about two weeks.  I DO have the ALD mutation. This means that I passed the gene to Gabe via a damaged (mutated) X chromosome.  To be honest, I haven’t quite worked out how I feel about this. I guess there is an upside: I get mad street cred in the geek circle as a bonafide, certified mutant. Plus, shouldn’t my super powers be manifesting soon? Do I need to stick a fork in a light socket or something to activate them? Go skydiving? Turn 33? Gabe is pulling for me to turn out to be Mystique because that would make him Nightcrawler. 

I tend  to make light of things and laugh at them because laughter lessens the power of the monster (think: Bogarts), but I had other, darker, reactions, too. I didn’t so much move through Kubler-Ross’s stages of grief as I did experience them all at the same time for the first couple of days after my results.  My personal psychology is firmly rooted in both Buddhism and Catholicism (observation and non-attachment to what arises, gratefulness, silence, and prayer), so I tend to observe my emotions and try to understand them.  This is what  I observed arising in myself with my carrier status confirmation:

I have been having carrier symptoms without knowing that’s what they were for more than eight years. I’d always said that there had to be something linking these things together; one root cause that we hadn’t figured out yet. I’ve gone through numerous tests and the most likely culprit that they kept coming back to was an autoimmune disease but, though many of the symptoms fit, my MRIs looked good and my blood work kept coming back negative for autoimmune. When Gabe was diagnosed and I began to understand the symptoms that about half of all carriers have (AMN-like symptoms), I realized that ALD was the missing link and my symptoms made sense for a symptomatic carrier. It was the logical conclusion even before DNA confirmation. So, I was surprised that I felt any sense of surprise at all when my results came back confirming what I already knew. But I still thought “Really? Really? Darn it!”

With that came the guilt of having passed this on to my son. A lot of carrier mothers feel this way and I know that it’s not rational. It’s no one’s fault: it just is what it is. I didn’t know I was a carrier and I didn’t know that Gabriel had it for ten years.  I would never have consciously given my son a terrible genetic disease that could debilitate or kill him. Still, part of me feels like it’s my fault that he has to suffer.  I’m also dealing with a little bit of fear over what this can do to me – not just the potential loss of my son, but the physical and mental affects that being a carrier can have on me, personally. My nerve pain, numbness, ADHD, and bladder problems are just annoyances right now, but I don’t want them to become real problems one day. I see how difficult day-to-day is for my mom and I’m worried that, since her symptom sets looks a lot like carrier-AMN, I could be headed down that same physical path. I am in a career that I absolutely love and I am afraid of the possibility of one day not being able to do my job.  I know that fear is not something to cling to; you can’t live life worrying about something that may never happen. The best thing for me to do is to acknowledge my fear when it arises and let it go, doing what I can, and what’s reasonable, to stay fit and healthy.

This will come as no surprise to anyone who knows me: I have something of a white knight complex. I’d love to eradicate suffering (yeah, yeah… I know. Samsara is Nirvana, grit makes the pearl, our crosses to bear, and all that). Since I can’t cure Gabe, and maybe even as some kind of personal purging of sins (real or perceived), I want to save the world and make sure that Gabe and anyone else who has ALD, or is a carrier, gets the treatment that they need. In the big picture, this means that I want to get newborn screening for ALD and EMS protocols for adrenal insufficiency instituted in my state. In the smaller picture, I want to get all of my relatives DNA tested. The latter seems like it may be a bigger task than the former.

Not everyone I talked to about DNA testing immediately understood the importance of screening and not everyone has the means to do it right now (healthcare costs are out of reach for many people today!). Enter anger. I am off-and-on angry when I run up against a roadblock to healthcare, since access to healthcare is my personal crusade, be that the reluctance to get tested/treated or other barriers (lack of insurance, doctors with big egos who don’t want to question their potential misdiagnosis, etc). By and large, most people I’ve talked to are open to the idea of being tested, but I find myself getting angry at the few who are reluctant to find out if they or their children have the mutation because it’s needlessly reckless. I understand that it’s a coping mechanism, but it’s frustrating when everyone isn’t rushing to get tested. Early detection equals a better chance for survival and treatment. Or, in cases of misdiagnosis, proper treatment.

So, what have we got here? We have somewhat irrational anger and guilt together with fear all driving the white knight desire to save everyone from ALD: A nice boiling pot. Then someone made a really hateful comment: they said that a family member didn't need to get tested because me and my husband's "bad blood" had nothing to do with them (what kind of person even says that?!). At the phrase “bad blood,” I flew into an absolute rage for about an hour. Now my version of rage and yours might be two different things.  It’s not like I scream (often) or throw things, but I do vent and do what I can to take corrective measures (like sending strongly worded emails). But seriously? I really wanted to punch that someone in the face.  After my hour or so of rage was up and I got myself under control, I sat in prayer and meditation with the family. Better late than never. Let me tell you, this family time is a great practice! We start with everyone taking turns saying offering up gratitude and general prayers, then we move into chanting and meditation. My husband, Cutler, prefers to use the singing bowl and Buddhist chants. I go with praying the rosary aloud.  It sounds quite beautiful once you get everyone chanting/ praying together. Afterward, I felt a million times better and, once calm, I understood that the nasty comments that the other person had made were coming from a place of their own fear, ego, and power issues and that my response of anger was due to mine.

But the main thing, the real take-away is this: that was just one instance of someone being hateful and it was far, far outweighed by the scores of friends, family, even strangers who have been kind and supportive. Once in a while, people can be destructive, mean, divisive, or worse. But these people are small in numbers. They are overwhelmed by the multitudes of people who are constructive, kind, compassionate, uniting, uplifting, and helpful. We see this every day enacted and reenacted in the world. Our family has been blessed again and again by the helpers of the world. They deserve their own blog entry instead of just a few paragraphs at the end of one, so I won’t go into detail here. For now, I offer a heartfelt thank you to everyone who has kept us in your prayers, supported us, worked to make fundraisers happen, and who have offered us their love both near and from afar. Thank you!

Starbugs

"If there was never any darkness, we would never see the fireflies."
These beautiful words grace the cover of a card sent to Cutler and Gabe by Cutler's aunt Shelly. They hold special meaning for the two of them and they so perfectly capture the lesson that we have learned and continue to learn anew. Some people call them lighting bugs, some prefer fireflies. Our little girl used to call them "starbugs" and I always thought that this was a particularly delightful moniker because it reminds us of the innocent awe that we had as children, when it seemed to us as though the magical insects brought to earth a tiny peice of celestial light. So many of our friends and family have lit up the darkness for us in these past days with the bright twinkling of their love and support. It has been a dazzling and humbling thing to be a part of, much like the awe of watching fireflies dance gracefully through the night. The light of our loved ones has been nothing short of celestial. They have been our starbugs, for sure.

If I thought I was busy before May 1, I have since learned that I had a lot more down time than I used to believe; down time that has now been taken up with filing paperwork, chasing down medications, talking to billing departments and hospital social workers and and filing more paperwork. Not to mention helping Cai with her jewelry orders (www.moonribbons.com). Life is a whirlwind of activity and I barely have time to worry about anything but completing the next step. I try to focus on the things that I CAN do. I can't control what happens inside Cutler's brain and I can't control what happens in Gabe's. I can't control what their diseases do to either of them. What I can control is having the paperwork needed for Cutler's discounted Zofran prescription completed and sent in, I can make sure that they get to their doctors appointments, I can sell tickets to the Carolina Mudcats Game our friend, Christy, has organized, I can make sure Cai's orders get shipped....

These things keep me very busy, but they also keep me sane. The give me steps to focus on. They break the war down into small battles that, with preserverance and strategy, can be won. And what else is there to do besides pray and do whatever has to be done? One day last week I felt very overwhelmed by it all, there was just so much to do and I still have to be a normal mom, still have to work full time... I'm trying to relinquish responsibility where appropriate to others who offer to help, but that's not easy. I feel like if I'm not doing most of the work, I'm being lazy or unhelpful or taking advantage of others' kindness. I have to remind myself that people WANT to help! The night is full of starbugs, but I have to let them shine!

Speaking of being busy, Cutler isn't able to tolerate a lot of activity; he has frequent seizures and the chemotherapy makes him feel like he has the flu. He likes warm sunny days because he can get outside and toss the ball with Gabe or relax in the community pool with the children. He's often too sick to eat more than one meal a day. But he's in good spirits! That counts for a lot!

The mystery of Gabe's unresponsive ACTH levels may have been solved! It turns out that the pills he has to take hurt his throat to swallow, so Gabe has been spitting them out when we're not looking! We talked to the endocrinologist today and she thought that explained an aweful lot! They'd been practically drowning him in steroids and saw no results! We're going to be switching to a liquid form of hydrocortisone, which is not only much easier to swallow, but a lot harder to surreptitiously spit out. We have to get the medication directly from the hospital pharmacy because, his doctor explained, some versions of liquid hydrocortisone are untrustworthy. We're going down to his original dose of 5mg three times a day in the hopes that, if it's actually getting into him, he won't need such high steroid doses. He's still on the itty bitty arc on the growth chart, but he's gaining a little weight, finally!

Cai's final round of bloodwork has been sent off to John Hopkins and we should know in a month for sure whether she is a carrier and whether she is Gabe's bone marrow match. The first round of lower-level testing looked good, but now she will have DNA testing and high-resolution HLA typing.

One thing that has been remarkably helpful was joining an ALD support group. When I started this blog, I must admit, I felt pretty alone. This diagnosis is very frightening and no one, not even many doctors, seems to know what it is. When my sister told her pediatrician that she needed to have her son tested, the pediatrician had to google it (blessedly, my nephew does not have ALD). When I spoke to my doctor, she had never heard of it, either. I've mentioned elsewhere on this blog that internet searches can yeild bleak results. So, imagine how heartening it was to be invited to a group where not only are there other parents who understand exactly what we are going through, but some of whom have boys who are asymptomatic or have mild symptoms! If that's not hope, I don't know what is!

Between old friends and new, family and even strangers, we feel so uplifted, hopeful, and loved. Whether they're coming over to dance with me, hosting a fundraiser, donating to our cause, offering advice on mixing crushed pills with applesauce, selling tickets, working on Cai's site, saying a prayer, or just reaching out to say "you're not alone," they have all been our starbugs: our lights in the darkness, the beauty and delight in all of this. Thank you. I could never, ever say it enough. A million times, thank you.

Cancer

Some days, it's just so hard to keep faith. On Wednesday, May 1, our family found out that my husband Cutler - Gabe and Cai's father - is facing his third battle with brain cancer. After three years of being "A Survivor," of clear scans and celebrations and handshakes with exhultant doctors, and just on the heels of such devistating news about Gabriel....THIS. 

The men in my family really have something against birthdays. Gabe's hospitalization that lead to his ALD diagnosis happened on his 10th birthday this past February 3rd. Cutler's first brain surgery occurred on his 23rd birthday: September 30, 2005. Back then, we had no idea that he had a tumor and when he became sick, it was like the whole world stopped turning and collapsed. A grand mal seizure at work led to his diagnosis of a large anaplastic astrocytoma in his right temporal lobe. His first surgery was at Wake Med, performed By Dr. Robert Allen. Dr. Allen did a good job and took out 7 cm, but he left behind 2cm that were too close to an artery for his comfort in operating. The hope was that the little piece of tumor was low-grade and would be stable for at least the next 10 years. The tumor appeared stable to his doctors at Raleigh Neurology, but they couldn't get Cutler's seizures under control despite ever-increasing doses of seizure medications. In January of 2009, we got a second opinion from the experts at Duke. They saw that the tumor was growing and that it may have been encroaching upon an inoperable area. The famous Dr. Allen Friedman, the very same who operated on Ted Kennedy, did Cutler's second brain surgery on February 2, 2009- the day before Gabriel's sixth birthday. The tumor they removed was a grade 3 (on a scale of 1-4). For the next year, Cutler underwent chemotherapy and radiation at Duke and, in 2010 was cancer-free. The seizures disappeared and Cutler was eventually able to return to a normal life and work at the end of 2011.

And now this. Another tumor. There are moments when I feel so broken.

Cutler and I will have been married for 13 years this fall and he has been my best friend for at least the past 15. We've been together almost half of our lives. He's everything I could ever ask for and I just can't imagine having the strength to get up in the morning without knowing that he is there. People keep telling me that I'm the "rock" of the family, but if that's true it's only because Cutler is the foundation I rest on. I can't say enough good about him. He's funny, kind, and he has a blunt sarcastic style that fits me just fine. He likes good music (most of the time) and we can laugh at the worst D rated movies Hollywood has to offer or cry together over the most touching. He loves theater and good musicals. He doesn't dance, but he likes the art. He doesn't sing, but he tries anyway. He's ridiculously strong and he feels closest to God when he's outside. He can cook eggs like nobody's business. He's the kind of guy who stops when he sees someone broken down on the side of the road and who will go out of his way to help a stranger. There isn't anyone I would rather spend my time with, no one I'd rather hang out with at the end of a long day. He's a good and loyal friend and I think he's our children's favorite parent. And he loves me with all of his might for all my faults, quirks, and craziness.

Sometimes I'm so afraid that we have it so good because God didn't intend to let me keep them; that maybe he's giving us decades and decades of love all crammed into a smaller time frame. I desperately hope this isn't true, but it's the fear that haunts me.

Cutler had begun to have seizures again this spring. We both knew something was wrong. He said it was just stress because of everything going on with Gabe, but we both knew better. He'd been weaned down to MRIs every 6 months because of how stable he has been. Last time, he went alone because the news has always been good, but this time I insisted that I go with him to the check up. He kept telling me I didn't need to go, but we both knew he was going to need moral support; if for nothing else but to be told he had to go back on seizure meds.

I don't remember all that happened very well when his neuro-oncologist came in with the news because I took a moment to have a small mental break down and processing what was happening ground to a slow crawl. She said that there had been a change on his MRI, a "new swelling" that was causing the seizures, and that he was going to have to start treatments again. There were hugs all around and she told him that he is family and they will take care of him. I just cried. If we're fortunate, a year of daily chemotherapy will be enough. A social worker came in and spoke to Cutler about affording his treatments and the unlikelihood of him being able to continue to work. The financial aspects may well be one of our biggest challenges. Even if Cutler can somehow continue to work, his treatments will be outrageously expensive. If he can't continue to work, we face the problem of not being able to pay the rent and other bills. It's not looking up for him continuing to work.

We had to break the news to the children and debated on how much to tell them. We always tell them the truth and this time was no different. They already knew something was wrong. They knew dad was having seizures again and they knew we'd been at the hospital for much, much longer than usual. When I told them to sit down so we could talk, our daughter said "he has brain cancer again, doesn't he?" Gabe ran to his room to cry. We decided to have a nice dinner out - our last like this for a long time. Cutler thinks he will go back to being a semi-vegetarian since it served him so well last time and we don't know how long it will be before we can afford to eat out again. We talked about what lies ahead: another year of chemotherapy and another year of being broke. Our daughter spoke with wisdom beyond her age when she relplied "we've been poor before, we can do it again." Gabe sobbed and hugged his daddy all night. He made him a special charm out of baked clay and a card that said he's scared for him. They just have so much on their plates, my strong little children, and I hurt for them that they have so much on their shoulders and so much to be afraid of: loosing Gabe, loosing dad, sickness and doctors and treatments that make you even sicker for a while.

I'm really not that strong, I just don't have the option to break. Friends ask "don't you just cry yourself to sleep at night?" The truth is that I do sometimes. I'm so afraid. I'm so selfish - I want to keep Cutler and Gabe forever and I don't know how I'd manage without them. I ask "why" sometimes and I've been known to say over the past two days "why can't I just have NORMAL problems?"... but I don't dwell on it too much. Asking "why" and demanding answers and saying how unfair it is doesn't do anything except prolong your suffering. All we can do is Keep Going. Just keep putting one foot in front of the other. Do the paperwork, file the insurance, file for grants, ask for help, go to work, take the medicine, get the bloodwork. Just keep going. I feel guilty asking for help, but we've been here before when it was just Cutler sick. With both Cutler and Gabe going through treatments, the mountain we have to climb is so high. All we can do is gather our gear and climb and accept help along the way.

We will be doing some fundraising to try to help meet medical and living expenses this year. We are so grateful for the support network that we have, the love that friends give us, and the help people send our way. If you can and are so moved, would you please consider making a donation to help our family get through the hurdles this year? Please pray for us. Thank you

www.youcaring.com/medical-fundraiser/beating-cancer-and-adrenoleukodystrophy/57162

DNA results: Gabe Gets his Mutant Certificate!

When a doctor says he has something to discuss and is willing to meet you outside of normal clinic hours, you know that a) something is up and b) you have a really good doctor. So it was with great appreciation and no small dose of trepidation that I anticipated this morning’s meeting.  Exhausted from a night of working the graveyard shift, I stumbled into their office building, still dressed in the scrubs of a competing hospital.  Gabe and I were escorted to a conference room filled with toys and the drawings of young bone marrow transplant survivors.   The colorful pictures were supposed to be inspiring, but seeing them made me want to cry. For all their celebratory happiness, they were draped with the shadows of all the missing drawings of children who never got the chance to scribble rainbows thanking the team for saving their lives. If Gabe noticed the artwork, he didn’t mention it or stop to look. Maybe to children, drawings decorating the walls are so common that they’re like silverware in the kitchen. Gabe got to work checking out everything in the room for its play-with potential, but deemed most stuff “too babyish” for him. He eventually settled on a calculator.

Dr. T and Nurse M are very personable people. They are both kind and generate a sense of ease and familiarity. Nevertheless, I could tell by the stack of papers that they carried and the fact that they seem to have made an exception to meet with me during odd hours that this wasn’t just a friendly morning meeting to touch base.

First, we discussed Gabe’s latest ACTH levels. They are even higher than the last labs and, once again, they are off the charts (over 2000). This means that his pituitary is not responding to the oral meds. His endocrinologists have put him on another week of decadron, this time at 1mg  instead of .5mg. Dr. T said that this is a strong steroid, so they should see some improvement by the next labs in May.

They showed me a print-out of Gabe’s results from John Hopkins DNA Diagnostic Laboratory. It turns out that Gabe has a never-before-identified mutation to his ABCD1 gene.  There are many different mutations on the ABCD1 gene, hundreds in fact, that cause ALD and Gabriel’s mutation is a new one to their database. Specifically, it is a mutation that changed from what was supposed to be a simple amino acid called glycine into a positively charged amino acid called arginine. This sounds small, but Dr. T says that it’s actually a significant mutation and that it is predicted to, eventually, cause cerebral involvement. Here is the interpretation from the data sheet:

 c.1534G>C (p.Gly512Arg): Not a previously reported ABCD1 gene mutation or polymorphism to our knowledge. Two different mutations affecting the nucleotide at this position (c.1534G>T, p.Gly512Cys; c.1534G>A, p.GLY512Ser) have been previously reported in patients with an ABCD1-related disorder. Two bioinformatic tools were queried and both predict that c.1534G>C is probably damaging. The glycine residue at this position 512 is completely evolutionarily conserved across multiple species. If the patient meets clinical or biochemical diagnostic criteria for ABCD1-replated disorder, c1534G>C is likely the molecular cause of disease.

If you think about it, this DNA analysis form is kind of like a mutant certificate. Like the first page in an entrance application to Xavier's School for Gifted Young Mutants. I wish it were that awesome, anyway.

The prediction is that this mutation, being what it is, will cause a lot of damage. There is no guarantee, however, and even major mutations can have mild expressions – it’s just the luck of the genetic lottery. But, because of this, the doctors want to get prepared. They think they will do Gabe’s next MRI the first week of June when the kids get out of school. The would like, by then, to have everything lined up to do a transplant immediately if they see anything on the MRI. They said that the transplant is not worth the risk without seeing a need for it on MRI, but that as soon as they do see changes, they want to be able to move right away. What they are doing, then, to prepare is beginning by verifying that Gabe’s sister, Cai, is a bone marrow match and not a carrier.  Her very-long-chain-fatty-acid test was in the middle of the normal range with an 80% accuracy rate. Now that they know what mutation they are looking for, they will verify her results with a DNA test. The low-resolution HLA typing looks like she is a perfect match, but they have to do a high-resolution test to be sure that all of the numbers line up.

Dr. T stressed the importance of getting myself and other members of my family tested. It is possible but unlikely that Gabe is the index mutation in our family. The occurrence rate of the gene for ALD is about 1:17,000 and the occurrence among this small number of being the first member of a family with the mutation is only about 3%. Other family members with the gene will need to be identified to be sure that treatments are conducted in a timely manner and so that genetic counseling can be given to ladies of childbearing age and inclination. Early detection is the key to survival among boys and proper identification in female carriers is important for managing the symptoms of the female carrier version (AMN).  It’s more likely that Gabe comes from a long line of mutants that have been hither-to unidentified since Gabe is the first boy to show symptoms during childhood. I wonder when our powers will surface.  Do you get a letter from Professor X the same way Harry Potter got a letter to Hogwarts? Will Patrick Stewart show up to whisk Gabe off to the academy? That sounds a lot more cool than a bone marrow transplant. 

Easter and ERs: Learning to live with Adrenal Insuffieciency

Learning to live with adrenal insufficiency is a little daunting. Just before Easter break, Gabe got into a small accident on the playground that had us rushing to the emergency room and over the holiday he caught a cold. Both events underscored for us that we don't know what we're dealing with yet and we have a lot to learn about how to handle the normal kid stuff that arises like sniffles and black eyes.

Gabriel is a rough and tumble child and coming home with bruises and scrapes from playground adventures is a regular event. Last Wednesday, he was racing at recess with another boy when, in a passing maneuver, the other boy collided him and landed on Gabe's face. It happens. I got a phone call from the office secretary to alert me that Gabe would be coming home with scrapes on his face and an eye that is bloodshot and banged up pretty good. She said that Gabe had told her that his vision was briefly a little blurry in one eye following the head-landing-upon. Well, ordinarily (pre-ALD), I would have just said "thanks for the heads up" and added another mark to the mental checklist of Gabe's battle scars, but now I know that there's adrenal insufficiency involved and I have to take his playground injuries seriously! But, how seriously? Which injuries? I told the secretary that I was on my way and rushed out the door, dialing the number for Gabe's pediatrician. With an eye injury, did this necessitate a visit to the endocrinologist? The pediatrician? The ER? None of the above?

Now, ordinarily, your adrenal glands make cortisol when you are in a stressful situation like getting sick, getting injured, interviewing for a job, bungee jumping, training for underwater demolitions, or facing a fight-or-flight scenario. In ALD, the rogue very-long-chain-fatty-acids that accumulate in the body will damage the adrenal glands, impeding the body's ability to make cortisol and other hormones. Cortisol has stuff to do with your blood sugar, salt and water balance, lowering inflammation, metabolism... The production is stimulated by the pituitary gland, which tells the adrenal glands that it's time to produce their hormones. When a situation occurs in which the body SHOULD be producing cortisol and can't, the pituitary gland starts screaming at the adrenals by releasing lots of Adrenocorticotropic Hormone (ACTH). In Gabe's case, the adrenals respond just a little, but not enough, and the pituitary keeps yelling, hoping that they'll get the adrenal's attention. Gabe's ACTH has been extremely high lately, anyway, without injury or illness.

I got up with the pediatric nurse and explained the situation: that Gabe has adrenal insufficiency secondary to Adrenoleukodystrophy and had gotten an eye injury when another boy fell on his head on the playground. I hadn't seen it yet, but the school said it was bruised, bloodshot, and blurry. She said that I should give him a stress dose of hydrocortisone and go ahead and bring him to the ER since, with the adrenal issues and it involving his eye, they'd probably want to look him over. When I picked him up, I saw that the injury wasn't nearly as bad as it had sounded on the phone. I gave him twice his afternoon dose (10 mg) and brought him to the ER. They saw him quickly, deemed him okay, and confirmed the stress dose of double his hydrocortisone. The doctor we saw said that he probably wouldn't need the evening dose to be doubled, but it couldn't hurt, so we gave him a double dose in the evening. I was a little embarrassed to be in the ER over such a small injury, but we're new to this whole adrenal thing.

Two days after Gabe's injury, he woke up feeling bad. He had a terrible headache, felt nauseous  and had a
low temperature. I gave him some ibuprofen, but it didn't seem to help a bit. Two hours later, he was still lying on the couch moaning about his head and feeling sick. It took some time to get up with an Endocrinologist, even using the on-call number, and I was starting to freak out a little by the time I finally did.  She said to triple his hydrocortisone dose and to give him the 50mg shot if he threw up. It was surprising to see how fast he bounced back. Pretty soon, he was up playing video games, then he was feeling back to himself and we went for a walk. The following day, though, he was feeling sick again and had developed a cough. By the middle of the day on Easter, he was running a fever of 102.6. We were all on pins and needles, unsure if this was a true illness, if it was (at least in part) an adrenal crisis, if we were doing things right, if he needed to go back into the ER... I'm just glad that he didn't start throwing up! On Tuesday, just 4 days after it started, he was feeling a deal better and the cough had almost disappeared, so we lowered his hydrocortisone to twice the usual amount. Wednesday he seemed back to normal, so we returned to the regular dose. He's back on the usual dose now and seems okay, but we're still a little nervous. I guess that we'll get the hang of this eventually, but right now we're still learning the stress to hydrocortisone ratio and the appropriate scoring of emergencies.

To conclude on a high note, though, we did get spectacular news Tuesday! It would appear that our twelve year old daughter, Cai, is NOT a carrier for ALD! The very-long-chain-fatty-acid blood test has a 85% accuracy in being able to tell if a female is a carrier, so there's still a little wiggle room for error, but there is a really great chance (an 85% chance) that she is ALD gene free! That would mean that she also has a really great chance of being Gabe's donor should he need a bone marrow transplant.

Our family had a wonderful Easter and a fantastic Holy Week. We dyed eggs, were surprised by a live, fun Stations of the Cross event at church on Holy Thursday (we were expecting just regular subdued stations, not the traditional Via Crucis with actors and guitar playing), celebrated a beautiful Easter vigil service by candle light in which the whole church seemed filled with twinkling stars, watched The Ten Commandments like we do every year (no finer example of 50s cinema will one find than this!), had an Easter egg hunt, and of course, ate far too much candy. Many years ago I started an Easter Pinata tradition. I don't know why, it just seemed like a fun thing to do at the time, and we continued the tradition every year since. This year they had a lot of fun trying to bust it open with a golf club. Cai was the winner; she knocked that poor pinata right in half.  We hope that, whatever you celebrate you had a great holiday, too!

Great News

     It's time to celebrate! We had a spring storm of good news Thursday! Gabriel's latest results came back and the bone marrow team called us in for a meeting at 8:20 am.

Just last week, we heard that Gabe's bone marrow transplant would begin in the next few weeks after we find out if Cai can be his donor. We'd begun getting things together to prepare for a prolonged hospital stay in April. There are so many ends that need to be wrapped up and plans that need to be made when your child gets a bone marrow transplant. One parent (or both) stays with the child and, because Cutler's job is our primary source of income, I would, naturally, be the parent that stays with Gabe. We're lucky that we live just a few minutes from Duke because many families have to pack up and leave their state, their home, their jobs, and travel a great distance to stay for many months with their child. Families are either separated or find themselves living in a hospital for some time. At least for us, Gabe and I would only be a few minutes away, Cutler and Cai would be able to visit, and I would be able to switch off with Cutler on his days off. So, one thing that has been taking up a great deal of my time, aside from work and Dr. appointments, has been arranging how life will proceed for Cutler and Cai without me at home. For example: chores. My house would turn into a toxic waste dump inside of a week without me. After a 10 or 11 hour day, my husband isn't going to want to come home to vacuum or fold laundry every day and Cai is never going to walk that dog without someone nagging her to do it. So, one thing I did was help Cai come up with a fair chore schedule that didn't make anyone feel like they were shouldering the burden of cleaning. I had to talk to my boss about taking some time (possibly months) off. I have already begun my medical leave with EMS...

This was about to all become moot.

The first test that we were waiting for was Cai's HLA typing to see if she is a match for Gabriel. There are two levels of bone marrow donor testing and the first level of testing showed that Cai is a likely match for her brother! This is a great sign and they would need to do the second level to verify compatibility  Unfortunately, there is still no word yet on whether she is a carrier of Adrenoleukodystrophy. To Cai this was not so great a sign...it means that out of hundreds and thousands of people, she's probably "her brother's match." Gabe wasted not a moment of opportunity to gleefully rub it in like any little brother. "We're practically twins! Even our bone marrow is the same!" He thinks it's cool...Her, not so much. It's her job to pretend to be annoyed, so pretend she has been (all the while hiding a grin). Heaven forbid they have anything in common, let alone be each other's matched pair in any aspect! She doth protest too much; all of her kvetching is for big sister show.

We may not need to do the second level of testing to verify her compatibility  because on Thursday, we got the best news yet! We've known for over a month that Gabe's adrenals aren't working well. When the Evoked Visual Potential test came back, it showed that Gabe has some slowing of visual input having to do with delay in the left optic nerve. These are common with ALD and AMN.

That's it! Those are the only abnormal tests!

His EEG is normal, his brain stem auditory evoked response is normal, his peripheral nerve tests are normal... This is really amazing, miraculous news! Before the tests, it looked all the world like a classical presentation of Childhood Cerebral Adrenoleukodystrophy, the worst manifestation of ALD, but now we've gotten the best possible news considering his disease! There's a chance that it's not the cerebral form at all, but possibly the more mild ( less deadly) phenotype called Adrenomyeloneuropathy. Because of these results, because there is a 5+% mortality rate and morbidity associated with bone marrow transplants, Dr. Tim says that it's in Gabe's best interest to forgo the Bone Marrow Transplant for now and, instead, monitor him closely with MRIs every 3 or 4 months. If he develops any additional neurological symptoms, I should notify them and set up an MRI. If they see cerebral involvement, they will verify whether Cai is a match (if she's not a carrier) and proceed with a transplant.

I can't express my gratitude; I don't know how to put it into words.
 Right now, my baby is okay.

His pituitary hormone, ACTH, is still too high, so the Endocrinologist increased his hydrocortisone dose from 15 to 20mg per day and added a week of decadron at 0.5 mg/day. Adrenal Insufficiency is something to take seriously, but it's something that can be managed.

Dr. Tim gave me a scholarly article called "X-Linked Adrenoleukodystrophy: Clinical, Genetic, and Pathophysiological Aspects" by Stephan Kemp, Johannes Berger, and Patrick Aubourg. according to the article, boys with ALD have, over all, a 60% chance of developing the cerebral form in their lifetimes. That means that there is still a 40% chance that Gabe will never develop a cerebral form. Hope is tangible once more. In 2/3 of males with AMN, the neurological progression is slow. "Within 10-15 years, motor disability becomes severe and requires the use of a cane or wheelchair. However 35% with AMN will have marked progression of their myelopathy within the first 3-5 years of clinical symptoms onset....Approximately 65% of children or adults with cerebral ALD have adrenocortical insufficiency that can precede the onset of neurological symptoms for years or decades....About 10% of boys with cerebral ALD may not enter into the active inflammatory and devastating stage of the disease...But a full progression to the inflammatory stage remains possible, even after 10-15 years without progression of cerebral demyelinization."

Gabe will never really be out of the woods. It's kind of like living with a grenade in your DNA that could go off any time. We can only take it one day at a time and be thankful for each day. Thank you all for your thoughts and prayers. This is good.

Testing...Testing...

Hope and faith are delicate things lifted up on butterfly wings; tenuous, gossamer, and so easily smudged. I don't really know where to start. I should probably talk about the bone marrow transplant and all of the diagnostic tests that have led up to today. Today I feel...I don't know. Constantly on the verge of tears. The littlest things make my eyes brim and I have to swallow them back.

I think I've swallowed so many tears that there is an ocean in my stomach.

I started this blog in large part to reach out to other parents of sons with ALD. It's so hard to find information out there. Old hypothesises conflict with fresh studies and it's hard to make head or tails out the information. For instance: diet. To follow a special ALD diet or not? I read a 15+ page report that leaned toward following a low very-long-chain-fatty-acid diet, then other pages that said such a diet is basically useless. I took it to the experts and emailed Dr. Tim. He says that there's no benefit to following any special diet. It's things like this that make me want to write this blog. That and the fact that so much of what I read on-line about ALD is starkly depressing and bleak. I want to give other parents hope.... That's my mission, but it's also my challenge. Because some days, it feels like the weight of the world is bruising the butterfly's wings.

We took Gabe to Universal Studios last week and he had a blast. He got to ride some big rollercoasters and we all got to forget for a little while about the real world. We rode the Monster Bus Eco-tour at Showcase of Citrus- one of Gabe and his dad's favorite things to do in Florida. Not only does he like the giant bus, but get this: he has a huge thing for Florida Natural Orange Juice after learning something about how orange juice is made in school. It turns out that Showcase of Citrus is one of the major providers of oranges for Florida Natural and Gabe got to pick his own oranges in their grove. Best of all, he got to UP in the air in a helicopter! I'm so glad that he got the chance to fly!  He didn't want me mentioning "his disease" while we were on vacation and the few times that I tried to bring it up, sensing a teaching moment or opportunity to talk, he got irritated and asked me to drop it. He hasn't wanted to talk about it almost at all lately. I asked him why today and it broke my heart when he said "because I'll say it'll be alright, but what if it isn't?" I struggled to answer that. I said something about bravery and faith and him being in the best hands and remember when daddy had cancer and we were afraid and look how great he's doing now.... Last night he walked up to me in the kitchen and gave me a hug. Then he just started to cry.

I'm afraid of the transplant. Admittedly, I don't know very much about bone marrow transplants - I've never had much reason to. I tried to become a donor once, but because I have some conditions on the medical restrictions list, I couldn't do it. My search for information stopped at "sorry, you can't become a donor." So, my first reaction to hearing that he might need a bone marrow transplant was "Oh. Well that's common. No big deal, right?" I've assisted in blood transfusions, I've run down to the blood bank to pick up bags of blood....This isn't THAT much different, is it? Well...yeah. It kind of is in some crucial ways. The more I read, the more it frightened me. Gabe will have to have chemotherapy and radiation to kill off his own bone marrow. He has to find the closest possible match - preferably a relative - because kids with related donors have the best chance for survival and kids with a very close match have the next best chance of survival. Wait a minute...survival rates?! With no immune system to speak of for a while, bone marrow patients are at risk for developing infection and disease that puts them in a crisis. Their new bone marrow can perceive their own cells as foreign and attack in "graft vs host disease," the adrenoleukodystrophy continues to progress for about 6 months until the new bone marrow is established and, depending on the individual progression rate, could cause a great deal of damage or even prove fatal in that time frame. I want to sugar coat this...As I read stuff online, I find over and over that the uncertainty and bleakness of everything that talks about ALD is frightening and depressing. I want to put on a nice happy, positive spin so any ALD parents out there reading this as they search for answers will feel less frightened. What can I say? I'm pretty scared, myself.

The qualifier in all of this is that I have supreme confidence in the capabilities of Duke Hospital. Maybe that's naive of me and maybe that smacks of the same superstition in doctors that usually annoys me when it comes from other people, but he really does have a team of experts. They aren't God(s), but he's in good hands. For goodness sake, Dr. Loes himself evaluated Gabe's MRI (and gave it a 0, in case you were wondering). Just today, a world renowned immunologist walked into Gabe's room to borrow his sink to rinse her cup. There you go....routine brushes with scientific greatness at ol' Duke Hospital.

I wasn't really prepared for what to expect from the initialization of bone marrow transplant procedures, so I want to share a little about the steps. His first visits have been for evaluations: meeting the team, MRI, EEGs, nerve testing...  All of this information is to give the doctors a picture of exactly where Gabe is at in disease progress. The MRI was about an hour long, the meetings with the bone marrow team comparatively short, EEGs and nerve studies took about 6 hours. Nothing was painful. Some tests were incredibly boring - like when he had to watch a screen of flashing checkerboard patters for 2 hours - but not so bad. During the nerve conduction portion, he did have to have thin needles inserted into his arm and leg on one side, which he said was uncomfortable. The electricity that they used to test his peripheral nerves felt weird, but his reaction showed that he thought it was kind of cool. Here he is during the visual portion.

And again during the EEG and auditory stimulation.


 His ACTH levels (the hormone that the pituitary produces to tell the adrenals to work) is still high, so his hydrocortisone dose will be adjusted until they find the right dose for him. They ran another blood test to be sure that Gabriel really has ALD and it came back consistent with the diagnosis. At that point, Dr Tim said that he would recommend that Gabriel proceed with the bone marrow transplant because it is very risky to let him go untreated given what this disease does and the uncertainty of how fast it could progress. I guess some part of me was expecting them to say that since his brain looks good, they didn't want  to do the transplant. I swallowed around a lump in my throat and kept talking to the team. I forgot to ask him when we would get started with the transplant, so as we were leaving I posed the question to Gabe's wonderful nurse. She said that they would probably begin when our daughter's tests come back indicating whether she could be his donor or not. There will be a few more tests, like making sure his organs are all okay, then they will probably get started in the next few weeks. We can expect the transplant to start in April.

Gabe didn't take the news well. I think he's in the anger and denial stages of grief. He wanted to leave the hospital after he found out that they want to proceed with the bone marrow transplant and said, as he walked away, that he is "not doing this." He's just a child, so I think that his rational is that if he doesn't do the procedures, he won't have to deal with the disease. I think his reaction is normal. I caught up to him and gave him space to be angry. Then, when he was ready, I hugged him and let him cry, trying to be brave for him and not cry right along with him. He went in to the next round of tests willingly and was very brave even though he was afraid of the little needles.

Our twelve year old daughter, Cai went in this week to get some blood tests done  to find out if she is a carrier and also if she is a bone marrow match for her brother. Cai has a 50/50 chance of being a carrier and a 1 in 4 chance of being a match. If she is a carrier she can't be his donor even if she is a match. The process for his bone marrow transplant will begin when we find out whether she is able to be his donor.

There is a bone marrow drive today just a few minutes from my house. It's being hosted by ABC 11 in honor of Robin Roberts and ABC 11 family member Joshua Chavis. I can't donate, but I plan to stop by with a thank you card. Who knows - maybe one of the donors that they register today will save my son's life. 

Getting to Know Gabe

Last night, Gabe and I decided to do an interview so that you could get to know him better. I gave him twenty questions and this is how he answered them. He only had one request: that I not reveal his biggest fear. Hint: it's one of the top kid answers.  

1.       What do you want to be when you grow up?

I want to be a pilot because they’re cool and because I want to fly a plane.  Flying sounds awesome.

2.       What is your favorite food?

My mom’s meatloaf and broccoli and cheese

3.       What is your favorite book?

“Uglies” is my favorite book because it’s a funny and good book about Tally and her boyfriend David.

4.       What is your favorite toy?

My stuffed dog, Orbit ,that I got when I was a baby. I can’t sleep at night without him.

5.       What do you like to do in your spare time?

Play soccer

6.       One word to describe you would be…

Athletic

7.       What is your favorite thing about school?

MATH!

8.       If you could go anywhere in the world, where would you go and why?

Uganda because my friend, Nathan, lived there and it sounds cool

9.       If you had one super power, what would it be and why?

TO FLY! Because I really want to do it

10.   What is your happiest memory?

Disney World because I had a blast. We got to ride in an old fashioned  fire truck at the front of the parade

11.   What advice would you give to your parents?

To stop worrying so much.

12.   What is your favorite family tradition?

Struffalies. They are yummy stuff. They are awesome because I’m a kid…and I don’t know much about them except that they are Italian and everyone makes them together                         

[insert impromptu song by Gabe about rolling dough and my hands hurting]

13.   What is your favorite movie?

Wreck It Ralph

14.   What is your biggest fear?

[Answer redacted]

15.   If you had one wish, what would it be?

That I had a hover board

16.   What is your nickname, why do you have it, and do you like it?

Bob. My parents call me Gabobriel and Bob for short. I used to hate it and I would say “I’m not Bob.” My parents would say “Hi, NotBob.” Then I would say “I’m not NotBob!” so they would say “then, you ARE Bob?”  Yes, I like it now.

17.   What is your favorite animal?

Elephant. I rode one in the zoo once and it was cool

18.   What is your favorite holiday?

Christmas. It’s kindness and Christmas and kindness and more presents and more kindness and family time, then more presents and kindness and a lot more presents.

19.   How do you feel about your illness?

I’m scared and I hate it

20.   Are you afraid? Do you feel brave?

I do not feel brave. Yes, I am afraid. 

Planet Moodswing: Side Effects of Hydrocortisone

Welcome to  Planet Moodswing! Ride the exciting roller-coaster of dueling emotions, test your stamina on the tower drop of depression, swing to all new heights on the sky flier of hyperactivity. Every moment is a new adventure!

I'm tempted to paint Gabe like an idyllic child, to give him that perfect veneer that we think comes over Sick Kids. You know the saintly glow I'm talking about: the one that seems to surround every child on every St. Jude's commercial or G105 telethon ever. Part of me doesn't want to share anything that might be seen as negative because I think I'm afraid that somehow we have this subconscious opinion that if you're not perfect, you have it coming. This is exacerbated by the fact that I recently heard a second hand comment from a friend that another friend didn't understand why this is happening to us because we "seem like such good people." As if, for some reason that they are unaware of, we have this karmic retribution coming to us. I've already talked in my last post on spirituality about this subject: suffering is simply a part of life, a requirement of the human condition, not punishment meted out for our failures. But, it strikes a nerve, nonetheless. It makes me, on some level, not want to admit that Gabe is just a boy like every other boy. He's no more perfect than you and I.

Gabe is a beautiful, wonderful child. He is bright, he likes to read,and his performance is usually above grade level. He cares about others, he's funny...or at least, he tries to be; we might not always get his humor. He wants to be a firefighting pilot when he grows up because those are the two best jobs he can think of. Being a pilot lets him fly, being a firefighter means being on a team of superheroes. Gabe's older sister is our independent spirit whereas Gabe needs more approval from others. He likes to be held, he likes to hug, he likes to be underfoot. Gabe is an active little boy who loves Nerf guns, soccer, rock climbing, and building forts in the woods. Right now, as I type, he's outside teaching his big sister to play a war game with the other kids of the neighborhood. I heard him enthusiastically explaining it to her when they came in to get her a coat. He loves Superman, video games, and Bible stories. His favorite color is hot pink and he'll proudly wear it no matter what others think about boys and the color pink.

Gabe can also drive you crazy. His propensity to be underfoot for attention means that sometimes he can be TOO underfoot and sometimes the grown-ups have to say "kid, go play! Go be a kid!" He is a typical little brother and he and his sister bicker over silly things: who ate the last doughnut, who left the bowl of cereal on the table, who went in who's bedroom, who's turn it is to feed the dog or clean their bathroom.  He has had a great deal of trouble this year with ADHD symptoms that are typical of boys with ALD and his teachers and I have talked many times over this school year about Gabe failing to live up to his full academic potential because he didn't read the question or didn't focus or lost his papers. He is clumsy, falling and muddying up or tearing his clothes frequently. He breaks things by accident through curiosity or playing too roughly. Sometimes he makes bad choices. Some of these things are because of his genetic disease and some of it is just normal kid stuff.

Gabe is just a regular child with all of the shades of grey that come with being a human being. The good in him far outweighs the negatives. He strives to be one of the good guys, but he's not somehow especially beatific because he has a genetic disease and he's not a bad kid who is being karmically punished for his behavior. He's just a regular, wonderful little boy who's family and friends love him. Just like any little boy.... but he's MY little boy.

That brings us to his steroids.

What is it like to have a child on steroids? Mom and dads, sisters and brothers, welcome to the wacky world of Planet Moodswing. Before the steroids  Gabe struggled with anxiety and depression. As I pointed out, he can be unfocused and hyper. I kind of expected to see this stuff drop off or chill out since the hydrocortisone is replacing hormones that his own body is failing to make in an adequate amount. I thought this would mean a more emotionally balanced Gabe. I was wrong. Now, at any given time, Gabe could Hulk out or turn into that guy on the "Best Cry Ever" meme.  It doesn't last for very long, but it takes a bit of patience. His mood lability has increased rather than decreased and he can suddenly become aggressive, agitated, angry, or have intense inappropriately sad or guilty reactions.Here are a few examples of what I am talking about. When he accidentally hit me recently, he practically crumpled in tears. "Oh, I am so horrible and bad! I accidentally hit my mom!" Everyone reacted with surprise and reassured him that not only was I totally unhurt, but didn't care at all! It was just an accident! When he threw a paper airplane and hit some figurines on the mantle, I admonished him not to throw things in the living room. Gabe responded by crumpling and ripping up the airplane, then storming out of the room. When his sister was playing with him and wanted to take a turn, he flipped out and called her a jerk. I took him aside so he could calm down and talked to him about taking turns when you play together. He apologized  gave her a turn, and they continued to play and have fun together for quite some time. The intensity and sudden onset and disappearance of these reactions are not like Gabe. They are consistent, however, with the side effects of taking hydrocortisone.

I don't know yet if these symptoms are temporary or if Planet Moodswing is a long-term destination. I plan to bring it up with his endocrinologist the next time I talk to her. One thing is certain: Gabe needs to take steroids. His adrenal glands are barely functioning and the cortisol that they are supposed to produce is a necessary thing. Since he doesn't make enough himself, it has to be replaced with medication. The alternative is terrible: without taking the medication, another adrenal crisis could be deadly. Therefore, requiring extra patience or not, the side effects are worth it. We can handle a little mood instability! Besides, if it makes anyone feel any better, The Beast and The Hulk were valuable members of their respective superhero teams.