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.