Saints, Martyrs, and the gift of ALD

This is not a feel-good post.

I’m tired of fear and pity parties. I mean, don’t get me wrong – we’re all entitled to having a pity party sometimes – but after a while, our friends need to grab us by the shoulders, tell us to get over ourselves, and go send us out to help someone who has it worse off. Maybe to go help a LOT of people who are worse off until we get it through our heads for the time being that the present moment is actually just fine and our lives are not so especially disastrous.

I am talking, of course, about ALD.  What else?

I’ve said it before and I’ll say it again: ALD is frightening. Sometimes, it’s like you have arachnophobia and are forced to live in a tarantula house at the zoo. But, then you learn that the spiders really aren’t so bad, they don’t have it out for you (except for that one little bugger with the orange stripes. He’s a douchebag) , and they’re just doing whatever it is that spiders do as part of their life cycle. You’re just there. They don’t really have it out for you personally (just watch out for the orange jerk. He hates you and he’s poisonous). Of course, then one of them lands on you and you freak out for a while. But then you remember that it’s all going to be okay and at least it’s not snakes. Or starving tigers.

Living with ALD hanging over your head is exactly like that. 

Or at least it should be. 

Here’s the tricky part of living with a disease like ALD and AMN: it’s really, really easy to sacrifice yourself on its altar and become a martyr to it.  It’s expected. Neigh – it is applauded by society at large and parts of the disease community itself.  Society likes to memorialize us before our due and the community likes to get in pissing contests about how bad we’ve all got it. This is because in both cases, it makes our egos individually feel a lot better about whatever is going on in our lives. 

 The Buddha is credited with saying “have compassion for all beings, rich and poor alike. Some suffer too much, others too little.” I’ve always thought that the word order of that was an interesting choice because it eliminates the idea that it’s necessarily the well-off suffering too little. Along these same lines, there is a poem that circulated the internet memes to the tune of “I wish you enough” where the speaker wishes one enough rain to appreciate the sun and enough suffering to appreciate small joys. I particularly liked that one. Thomas Merton warns us not to try to avoid suffering because the harder we try, the more small and insignificant things begin to torture us. Suffering in life is important – it is what drives and shapes our journey. It’s what makes us who we are depending on how we choose to respond to it. Whether we stay attached to it and feed ourselves a story about how bad we’ve got it OR use it to be grateful for everything we DO have and be in the present moment is the perpetual choice.  And it’s a damned hard choice sometimes. But here is the cheat code for the video game of life: it’s ALL suffering. Your response to it is what decides whether or how long you actually suffer.

And frankly, I’m tired of hearing how bad we families with ALD have got it. I’m tired of hearing that we’re all facing one terrible fate and that fate is determined by our genes. So, I left my support group after almost two years. It was very helpful at times – I wouldn’t have gotten through the earlier days without them – but at others it was shackles around my ankles because I’m tired.

I’m tired of hearing about the “beast” our family fights every day as if it makes us special. It’s tough. But we’re not special and we’re not saints. Our prospects as parents are no worse than anyone else’s and our suffering is no greater than what’s expected of every human being on the planet. It’s been almost two years and Cutler and I have come to terms what living with ALD means. We’ve come to terms with the knowledge that there is a chance that Gabe could die because of his condition. But there is a greater chance at this point that he – and you or I – will die of heart disease. 25% of Americans die of heart disease versus 8% of males with the ALD gene who get cerebral form after childhood. The risk of cerebral will increase to 20% if he gets a formal diagnosis of AMN one day, but that’s still less likely than heart disease and cancer (we ALL have a nearly 25% chance of dying of cancer in America). Not all boys have this statistical chance, someone - 35% - will be that 35% with CCALD, but the fact that most boys DO have a better chance should give us ALL hope.

When a parent gets the diagnosis of ALD, sometimes it’s too late for treatments to be of much help. That’s because we don’t have New Born Screening in most states and children and their families are only diagnosed with they start to exhibit serious symptoms.  About 1/3 (up to 35%) of all males who have the ALD gene will get the worst form – childhood cerebral. Another 8% (20% of 40%) will go on to develop AMN that becomes adult cerebral. But the majority – the remaining 67% - will survive with either AMN of some degree, Addison-only, or no symptoms. The data on the percent of the population who are totally asymptomatic is low but inconclusive because until we get standard NBS, we will continue to identify patient populations based on the exhibition of symptoms.  The fact of the numbers does not seem to be one that is embraced outright by the ALD community because most people involved in the community are the 17% of carriers whose children developed the CCALD form. The statistic that their children are in the minority is not helpful for them when they are in pain. They don’t want to hear that most of us will be okay because they are not ok. (Where did I get 17%? A carrier has a 50/50 chance of having a child with the gene and a 35% chance of the 50% who inherit the gene getting CCALD. That’s 17% of the carrier population who will have a child with CCALD). That 17% percent is a very vocal minority and that’s GOOD because it’s them who are leading the charge for cures and them who really need it. But it skews the view of ALD for everyone else.  THAT is the trouble with support groups.  People who survive ALD and are doing fine generally don’t need support groups, so new terrified parents join seeking answers and are confronted daily by the experience of 17% of carriers and 35% of boys as if this outcome is the inevitability. It’s needlessly terrifying when what we should be doing is reassuring frightened people that ALD is not a death sentence. Not convincing them by the war stories of the minority that it is.

But as I said: I’m tired.  I’m tired of being scared and scaring people who are already frightened. I’m tired of bereaved women accusing carriers who decide to have their own children of child abuse by daring to have babies who have an equal potential to live with ALD as they do to have a baby who eventually dies of either cancer or heart disease. And yet don’t see the irony amid their accusations of child abuse for giving birth of their simultaneously pushing forms of abortion for mutants as compassionate (frankly, as one of the offending mutants, I’ll take living with nerve pain, etc  to the alternative, but that’s just me.) I’m tired of being made to feel like I should be ashamed of having this mutation and that it’s irresponsible for people like my son and I to exist because of community members projecting their own fear and guilt. I’m ready to just join the “normal” population again. Almost half of them will die of either cancer or heart disease. 10.4% will die of accidental death before they are adults. 100% of them and us are suffering. 100% will die at some point and most of the non-mutants don’t spend all their time brooding on this inevitability or convincing everyone else that their mortality is a burden. (except the goth kids, but we let them because they make funny movies with gallows humor).

Here is what I have learned from working in healthcare: being with the terminally ill and dying is – absolutely, without question – a privilege. We’re going to die. ALL of us of SOMETHING. If we’re LUCKY, we get to see it coming, come to terms with it, and say goodbye to the people we love. 10.4% of children and teens die of sudden, accidental deaths. Their parents don’t get to plan and say goodbye. I’m not saying it’s not completely horrible either way, but take your blessings where they fall.  At least we families of ALD are given the very tangible gift of knowing that our time could be limited and to make the best of it. We have an albatross hanging around our necks and it’s a gift. It tells us that life is PRECIOUS. We have been given the opportunity that parents who loose their children suddenly don't have.  Children with ALD and any other chronic or terminal illness are not sentenced to a life of suffering any more than each one of us are. We ALL suffer. That is what life is about – how we deal with life itself and all of its beautiful tragedy. Whether that is ALD, heart disease, cancer, loss of income, or any of the myriad other sufferings that humanity faces. It is not irresponsible to allow people like my son and I to live, it is not shameful that we have a genetic mutation, our genes are not our fate, and it is a privilege, not a burden, to parent a child with ALD because they tell us exactly how beautiful, precious, and precarious life is.

I’ll be afraid the next time Gabe gets an MRI. And then at some point I’ll shake off the spiders and calm down because at least they are not starving tigers. I know I’ll be afraid every time something changes, but I’m not afraid now and I’m tired of living under the proclamation from other parents in the community that I should live in constant fear and shame. This is the antithesis to my philosophy of life and I refuse to be a martyr. To quote that beautiful story The Fault In our Stars, ‘some infinities are bigger than others .’ There is no separation between me, the mutant, and you the non-mutant:  neither of us know if our infinity is contained in a second or an hour. The difference is that I just might be lucky enough to get to count the seconds. ALD gave me that. 

Wishes, Flying, and Meeting Mortality

2014 has already been a year filled with promise, challenge, and hope. Hope. I think that must be my theme word. As of May, Cutler is once again a cancer surviving champion! After a year of chemotherapy, his MRIs are clear and he's beaten brain cancer for an epic third time. Our Gabriel is still a story of hope and promise. He has made it to 11 years old with Addison-only type. His MRIs are clear and stable. Both Dr. Raymond, scientific royalty in the world of ALD, and his BMT care team believe that Gabe is more likely, at this point and age, to develop AMN (a more mild and tamable phenotype of ALD) in his 20s or 30s than he is to develop cerebral forms. I've been focusing so much on learning everything I possibly can about cerebral ALD that my knowledge of AMN has been, admittedly, rudimentary. I have some very good reasons to become an AMN expert now, but I'll save that for the next blog post which will be all about Adrenomyeloneuropathy. Today I want to talk about Gabe's Make A Wish trip: the excitement, beauty, and the surprising aftermath. 

I can not say enough about how perfect the Make-A-Wish trip was or about how amazing and kind each and every person - from the MAW staff and volunteers, especially Stephanie, Michelle, and Tobi, to Maggiano's Little Italy restaurant staff and theme park and resort staff members. All the way around, it was the experience of a lifetime and everyone involved worked hard to make it wonderful. Gabe was lucky enough to be treated to a Wish Enhancement Dinner from Maggiano's at Southpoint. Check out these fantastic photos on Make- A Wish- Eastern NC's Facebook page!  

When we were invited to the dinner, we expected something small – just a quiet dinner with my in-laws, our Wish granting volunteers, and maybe a Wish Coordinator to go over the details of our itinerary. If I’d known what was in store for us, I would have dressed a little more nicely! What they did for Gabe was beautiful.  A dining room decorated in a safari theme was set aside for our party and Maggiano’s staff volunteered their time to serve us the most delicious three course Italian dinner. The hostess, LeeAnn, looked adorable dressed as a safari guide and Gabe had an almond safari Mickey Mouse cake that tasted every big as good as it looked. I was moved to tears several times through the evening and everyone had a lot of fun. Then, they sent us away with leftovers! There was enough there that we froze them and made really yummy dinners for a week!

For a few days before the Make-A-Wish dinner, Gabe had begun complaining of stomach pains and feeling unwell. He’d run a low-grade fever at school that had responded to acetaminophen and stress dosing his hydrocortisone. We thought at first that the stomach pain might be attributed to digestive issues. During the dinner, though, he would have to take breaks and go stand outside the room because his stomach was hurting and he didn’t feel very good. We encouraged him to slow down on the cheese but nothing could deter him from scarfing those mozzarella sticks that he loved like they were going out of style! By the end of the dinner, he was feeling rough (all that cheese, I wondered) and the next day he started to run a low-grade fever again. When his symptoms responded to stress dosing, I decided that it was time to call the endocrinologist about my concern that the stomach pain and spotty fevers were the beginning of an Adrenal Crisis.

His Endo agreed. Gabe has grown a good bit over the last year and he looks healthier than ever, but his daily hydrocortisone dose has been the same for a long time. The endocrinologist increased his dose from 5mg three times a day to 10mg in the morning, 5 in the afternoon, and 5 at night. She is keeping the fludrocortisone at 0.5mg once a day for now. That did it! His symptoms resolved and Gabe was back to feeling good. 

Gabe sits on dad's shoulder to see the planes

Gabe is excited about the flight

As we counted down the days to Gabe’s Make-A-Wish trip, I couldn’t tell what he was most excited about: flying in an airplane, staying at The Animal Kingdom Lodge, going to Disney, or riding the big rollercoasters at Sea World and Universal. As we waited at RDU for our plane to board, Gabe watched the planes taking off and landing. 

Gabe and Cai at RDU airport

Despite how excited Gabe was about flying, he found it more scary than he expected. He sat with his daddy on the flight to Orlando and with me on the way home, but both there and back he got airsick and asked us to close the window blind so that he wouldn’t feel nauseous and nervous.  Our Southwest staff were very nice. They gave the kids first flight certificates and let them take turns sitting in the pilot and co-pilot seats. 

When we landed, we saw someone holding a sign and thought “Oh, that’s nice. They’re waiting for someone…” Then I read the sign! It said “Kornegay Family!” They were waiting for US to guide us through the airport to baggage claim and to our car rental! I’ve gotta say, that was a special touch, Make-A-Wish!

The view from the Kilimanjaro Club

The photos on-line of The Animal Kingdom Lodge do not do it justice. It was GORGEOUS. The attention to detail was perfect (light shades that were really drums, carvings and ornaments to be found in every nook, thatching and architecture that made you feel like you were in a fairy tale version of Afica), the staff was incredibly kind, and there were African Artifacts everywhere. And the animals! Our room had a balcony that was right over the “savanna” and the giraffes could have walked up and licked our faces if they’d wanted to.  I’ve never had the privilege of staying in a luxury resort before, but anywhere else of this caliber I would imagine that I would feel like the children needed to be subdued, stay at my side, and don’t touch the nice things on display... You know the type of best show behavior I’m talking about. But this was Disney! It was designed for children and the child-at-heart! Not only did I feel totally comfortable letting the kids explore, but the sight of all of the children running around being children and enjoying all of the activities that the Lodge offered was incredibly joyous. 

Our first day in Orlando, we had nothing scheduled besides exploring the resort, so we planned to head out in the evening to Downtown Disney and the giant three-story arcade there. If there is anything Gabe might love more than food and sports, it’s video games (though it’d be a tough call between soccer and the X-box). We were on our way out when the kids decided to go up to the fifth floor and walk across the suspended bridge over the lobby. From there, they thought that they could see a cave up on the top level, the 6^th floor.  They came down to get Cutler and I and up we went to check out this “cave” together. We had to scan our magic bands to get to the 6^th floor and when we stepped out of the elevator, we were greeted by a polite concierge desk who told us that many people think they see a cave but that this floor is the restricted club level. As we made our apologies, one of them asked about the celebration buttons we’d been given at check in. We explained that we were celebrating Gabe’s Make-A-Wish trip: his wish had been to stay at Animal Kingdom Lodge and he gets to visit the parks as well.

Gabe and Sam, our Disney Genie

Sam, the club level concierge, seemed surprised that his wish had been, specifically, Animal Kingdom Lodge. Most of the time, kids wish to go to Disney and they stay at this really neat place for Make-A-Wish kids called the “Give Kids the World” village. But, Gabe had wanted to feel like he was going on safari in Africa, so his wish had been to stay at Lodge. After a bit of chatting Sam asked us to stay there at the desk and disappeared. When he came back a little while later, he had a very special gift for Gabe: he’d gotten permission to give our family club level access for the week! We had a healthy breakfast every morning (their oatmeal with blueberries and jungle juice was divine), snacks (oh my, that coconut lemon pudding!), tea time, cordials… But best of all, Sam became Gabe’s special friend for the week. They fought light saber battles right there in the lobby and club lounge and Gabe, for all his shyness with new people, really looked forward to seeing him every day.  I hope that Sam got some recognition from Disney for what he did for us. He added the extra dose of magic to our trip that made it truly unbelievable.

Cai builds a fort in the Wish Lounge at Magic Kingdom

Gabe had some trouble dealing with the strenuous activity and heat visiting the parks every day, so we learned a new way to visit thanks to some of the experienced parents in our ALD support group. (What I would do without these people, I don’t know. I’ve never met most of them in person, but their support and advice and stories have made ALL the difference in how we have been able to handle ALD).  The first full day of park visiting we went to Magic Kingdom and Gabe got tired, over-heated, and felt faint about 2 hours in. We took him to the Wish Lounge to cool off and recharge and play with another wish family and their two children. Our teenaged daughter, Cai, is great with little children and she built a fort for the kids out of cushions.  When he was feeling better, we went back to the resort to rest, nap, and swim. Then, when we headed back to the park, we used a wheelchair for Gabe. Cai was very helpful and volunteered to push him around. It made her unhappy to see him in the wheelchair because she doesn’t like the idea of him being in one, but she liked pushing him and he liked learning how to wheel himself around (though we had some close calls with pedestrians and ramps).  The chair helped immensely. He was able to take it easy and stay out much longer. We repeated this pattern of going for a few hours, coming back to nap and swim, and going back out until late at night for the rest of the week with the other parks.

Gabe learns to drive

The highlight of our trip at Magic Kingdom was getting stuck – TWICE – and “evacuated” from Splash Mountain. What an adventure! Cai was particularly excited because we got to go through some of the behind-the-scenes tunnel system that she’d read about. The second time we got stuck, us and another family got everyone on the ride singing Disney songs! There is nothing quite like belting out “Part of Your World” and “Let it Go” with a bunch of strangers as Disney staff in adorable costumes “rescue” you from a water ride.  It was SO much fun!

Since he didn’t get the genie pass to let him go to the front of the line on rides because we didn’t stay at Give Kids the World, Disney customer service hooked us up with fast passes! He went on the Mission:Space at Epcot over and over again, loved the Tower of Terror at Hollywood Studios, and Expedition Everest at Animal Kingdom. He had to ride every rollercoaster in every park at least once. Each day, he bee-lined for the water rides and rode them as many times as possible, delighted in my [exaggerated for amusement] reluctance to get soaking wet. Our favorite was the Rip Roarin’ Rapids at Universal, but the Atlantis ride at Seaworld was pretty darn good with its surprise ending.

Safari Jedi Gabe

Gabe got to take the Sunrise Safari at Animal Kingdom and see all of the animals except the elephant (bummer – that’s his favorite) up close. He. Loved. It. We even got another look at Disney backstage (no pictures allowed). After the safari, we had a HUGE buffet breakfast that kept us all stuffed for the day. He liked the space ride at Epcot the most and made himself a cool double bladed lightsaber that he used to beat Sam and his single bladed lightsaber in unfair fights.

Our resort was a theme park in itself with pools, water slides, hot tubs, night time animal viewing with military grade nightvision goggles, drumming lessons, Disney movies… Gabe and Cai spent as much time as they could at the pool making friends and sliding down the water slide and I spent as much time in the hot tub as I could. We met some interesting people who were staying there, as well, but the most inspirational was a geneticist who talked to us about epigenetics and the stunning new advancements in genetic disease therapy! You guys, it’s like science fiction! They’re going to cure this thing one day in the not-too-distant future.

When I say that everyone went above and beyond to make sure he had an incredible trip, I mean it! The staff of Make-A-Wish, Maggiano’s, Disney, Universal, and Seaworld were all working so hard and being so kind to give him such a wonderful week. At Universal, he got a guide who brought him to the head of the line and characters all made sure that he got to meet them. I think his favorite part was climbing the alley wall. 

Now the not so great part: dealing with the unexpected aftermath. Since we got back, Gabe has begun to understand what ALD is in terms of how it could affect him personally. He saw the trip as a once-in-a-lifetime thing that he figured must have been given to him because he’ll never have the chance to do it again. He's afraid that it means that he won't live to grow up and have a family of his own. We explained that it’s not like that and talked about the power of positive thinking.  Plenty of children who have been granted wishes go on to lead long lives. It doesn’t mean he’s dying; it’s a break for kids who have to spend so much time dealing with a scary illness. It’s a chance to get away from all the stress. And it was! It was so amazing that none of us wanted to come home! If we could, we'd move right into one of those sweet little houses at Disney and stay there forever! But the weight of his own mortality is weighing heavy on him and it’s made him anxious and angry over the past few weeks.

The tipping point was when, shortly after our return home, we started (a little overzealously) making him wear a helmet to play any sports because of evidence that head injury can lead to cerebral demyelination in boys who previously had none. Gabe plays rough sports. Hockey and Soccer, especially, make him feel powerful and strong in a time when his life is uncertain and things are beyond his control. Gabe has always responded well to bluntness – we’re a very straight-forward bunch. He didn’t this time. He cried and fought with me – to my utter consternation – over helmets for soccer. He is afraid that other kids will laugh at him. “You wear a helmet or you don’t play” is what I finally said in frustration. And he agreed to do it. And I thought that was that and he was seeing sense. But, instead things just got worse and every loss of control or every moment of unfairness (being an inch too short to drive the go-karts when his sister and friends could) became a symbol of the injustice of the world and he raged against it. Then, I finally understood that he wasn’t mad about not driving the go-karts, he was mad about the unfairness of having ALD. I found this out when he finally yelled “It’s not fair! SHE (his sister) can drive them! SHE’S tall enough. SHE doesn’t have a stupid disease!” My heart broke for him. In the days that followed, we finally made emotional progress. 

I’m grateful for my son’s self-awareness. We sat him down and talked to him about the change we’ve seen come over him in the last few weeks. He told us about his fears of dying before he’s thirty and that he’s been really worried since I told him about needing to wear a helmet. He fought me on the helmet because he’s frightened. He’s already hit his head many times playing soccer and hockey and he was afraid he’d caused himself, by playing the rough sports he loves, to get lesions. We told him about all the times he’d bumped his head – even gotten concussions and stitches – as an adventurous small child. He climbed everything as soon as you turned your back and promptly fell off. And never, in eleven years of bumping his head while he played, had he developed lesions. His MRIs are still clear! It may have happened to others, but it never happened to him and his doctors think it probably never will. He needs to be careful, but he also needs to have hope and be positive. It was tough for me. I'm not used to this completely reasonable emotional response of anger. When Cutler had cancer - once, twice, three times - he was frightened but hopeful and optimistic. He became more spiritual, not angry. I understand Gabe's feelings, but learning to help him through them is new for us. Gabe thinks it would help him to hear stories about men with ALD and AMN who grew up and are doing well. I am thankful for my ALD family for sending stories of their fathers – some of them middle aged and totally asymptomatic - to inspire him.

I never thought I’d understand some of the choices that other parents have made that picked what we call “quality of life” over every possible protection. How dare Dr. Raymond suggest to me that “quality of life” may be more important than making sure we take every precaution – even the slim chances like taking Lorenzo's Oil and following a very restrictive diet for a child who is technically clinically too old to see the benefits -  to give him the best chance to grow up?! I would get so frustrated when I heard that other parents made calls that I never thought I would and couldn't understand. But now I understand what they all meant by "quality of life" and what the neurologist meant when he told me that I must weigh the cost and benefits of life style and activity choices. We have to choose well for our children and not take unnecessary risks, but we have to find the balance. Living in fear and precaution is not living a life. 

Helen Keller said it best when she said "Security is mostly a superstition. It does not exist in nature, nor do the children of men as a whole experience it. Avoiding danger is no safer in the long run than outright exposure. Life is either a daring adventure or nothing at all." 

Each of us on this journey with ALD must make the best choices that we can for our children’s health and safety and sometimes those choices don’t make sense to others on the surface. Gabe will have to wear a helmet when he plays hockey (everyone else does, too) and I'd still like him to take extra precautions and wear one when he plays other sports, but I had known how demoralizing the argument about the helmet would have been coming right on the heels of his Make A Wish trip and how it would solidify the fears he’d begun to develop, I would have backed off. And maybe I would have made the same choice that other mothers have made (which I didn’t understand at the time) and not been so open with him about ALD from the beginning.

Gabe's story is a story of hope. I hope he can inspire other families who are fighting this terrible battle and newly received a diagnosis because that first year is terrifying and I can't imagine the desperation my family would still feel today if it hadn't been for finding a family of other ALD kids, parents, and grown ups. Gabe is doing great and I think that because the internet is so full of stories of boys who aren't doing great, it's important for others to see a boy like him who IS! I just hope that he sees and believes the inspiration in his own story. 

Why NOT me? The Bittersweet.

I was crying on the couch beside my husband with my computer in my lap when Gabe came into the room. He should have been asleep; it was an hour past his bed time, but he was procrastinating to try to stay up as long as he could.

"Why are you crying?" He asked.

I paused for a moment, not sure whether I should answer him honestly or if I should just tell him that I saw something 'moving'. After all, I'd cried at a Jason Mraz music video, to my ten year old son's consternation, just the other day. It would be nothing new to him if I said I was crying over a video. In the end, I chose to tell him the truth. You see, we had just been celebrating great news from Gabe's neurologist and the results of his first eye exam. Gabe's Bone Marrow Team nurse had called earlier in the day to tell us that Gabe's latest MRI was normal and that Dr. D was thinking that he would do another MRI in 3 to 4 months and then may be comfortable spacing the MRIs out to every 6 months. This is great news for Gabe! It means that the BMT doctor is starting to worry a little less about his brain and how rapidly the disease could be progressing.

I've mentioned in previous posts that, even though ALD is caused by a mutation on the same ABCD1 gene in all boys (though not all boys have the same mutation. In fact, Gabe and I have one that was new to the database), it has a few different phenotypes and, even between identical twins, the disease may progress radically differently. No one knows why this happens. There may be some modifying genes at play, but no one knows what those are yet. Because progression, especially in children, can happen suddenly and be rapid, Gabe's BMT team has been ordering MRIs about every three months. If they spot any lesions on the MRI, Gabe will get a bone marrow transplant immediately with his big sister as the donor.

Gabe seems to be closing in on the upper age range for developing childhood cerebral type, the worst form of ALD. He could still develop cerebral involvement as a teen or an adult, but adult-onset tends to be more slowly progressive. I don't think we will ever be able to stop worrying, but we can start to worry a little less as time goes by. And it appears that the BMT team agrees as they are almost ready to move from 4 MRIs a year to 2.

Gabe's first visit eye exam went very well, too. We'd been told after his neuro work-up that he had some slowing of his left optic nerve that was typical of ALD boys. The optometrist told us that he is a little far-sighted, but that she was reluctant to have him wear reading glasses yet unless he starts getting headaches. From her end, his eyes and his optic nerves look healthy. So, all in all, we got some VERY good news.

So, why was I crying on the couch?

Another mother in our ALD support group, I explained to my son, just got her son's MRI results back, too. They weren't as good as his. We were very lucky, I told him, or blessed, or both that we live so close to Duke and that he had been diagnosed so quickly. The other family, I told him, has two sons who are close to his age. They only just found out that their sons have ALD and by the time they found out, their MRIs already showed lesions. I was crying, I told him, for their family.

"What would have happened if I didn't go to the hospital when I did?" He asked.

"When you went to the hospital, you were having an adrenal crisis. Your body was shutting down. If you didn't go, you would have died. We were lucky that, even though they thought it was just the flu, they checked everything and found out that you have ALD."

"So, I was dying when you took me to the hospital?"

"In short, yes.There have been other boys... other mothers I've talked to, who lost their sons during an adrenal crisis and only found out afterward that they had ALD. We were very lucky."

Gabe looked taken aback at first, then seemed to mull that over for a minute. He hugged me. "That's why I have  to save other people when I grow up."

I was really touched by this and I understand and share the sentiment. The help my family has received from the medical community and the support from family and friends is a major motivator in my working in EMS. I want to give back. Lately, Gabe has started telling everyone that he wants to be a pilot and a Paramedic. Maybe even a flight medic.

Then, my sweet little blue eyed boy grinned and said the most little BOY thing possible before dashing off to bed. "Wait until I tell my friends at school tomorrow! 'You know that time I was in the hospital? I was dying!'"

It may be a macho thing for him to brag about his brush with death to other boys on the playground, but for so many other families, it's a heartbreaking, nightmare of a reality.

I never (well, almost never, anyway) ask "why me?!" One of the things I learned from Buddhism is to never ask why ME, but rather "why NOT me?" What makes me - my son, my family - so special? Nothing.

Nothing.

My step grandmother, Connie, used to tell me, when we spoke of someone who was suffering (or even just annoying) "There but for the grace of God, go I. " It can be very hard at times to be part of the ALD family support group. I am grateful for the other parents and for the space to share our experiences and support each other, but there are days when I am so afraid for Gabe and reading about another family's loss makes it almost unbearable. I shamefully admit that some days, I scroll rapidly past their posts because I just can't bring myself to read them. I'm too scared. There are more days, though, when their stories are a connecting thread. When E posts about her son's latest "clean" MRI, her family is a symbol of hope that one more boy is beating this horrible disease. When K posts about her struggles with the healthcare of her son or a rough, sleepless night, I am strengthened by her strength.  I celebrate their triumphs and I grieve for them when they have set backs and losses because there, but for the grace of God, go I. 

There is no separation between them and me, their sons and mine. So, it is hard to celebrate and be happy that my son is, so far, relatively okay when another family hears that their son is not. There's no special diet that we feed our kids that they didn't. There's no special healthcare or life-style choices that we chose to follow that gave us "an edge." We aren't more pious, more worthy, more earth-centered, or more altruistic. There's nothing that we did that they didn't do. It just is what it is. We are grateful to our bones that Gabe's MRIs are still clear, but we weep for the boys whose MRIs are not. For the boys who are diagnosed too late and the ones who progress so fast. I pray with all of my being that my son's health holds, for newborn screening, and for a cure. Lord, bless our boys.