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.
Saturday, March 23, 2013
Friday, March 15, 2013
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 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.
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.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.
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.
Sunday, March 3, 2013
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.
Saturday, March 2, 2013
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.
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.
Tuesday, February 26, 2013
Spirituality in Crisis
Spirituality and religion can be touchy topics and I don't want to alienate any of my readers, but for many people, connecting with their spiritual side is an important part of the coping, care, and healing process. I promise not to proselytize on my blog (that's not the point and, besides, whatever your beliefs are is perfectly okay with me), but since it's supposed to be a chronicle of our family's experiences, our spirituality will inevitably be a part of our experience of this journey. So, here's the post tackling spirituality in crisis.
I have a bit of a patchwork quilt of a spiritual background. Born into a maternal family proud of its Catholic heritage and adopted into a paternal family strong in their Episcopal faith, I split my childhood between the two religions. To this day I have a preference for some of the Anglican prayers and sometimes accidentally say them during Catholic Mass, and I still consider my father's church part of my family. I admit that I miss their musical arrangement of the Doxology. It's prettier than ours. A crisis of faith in my teens and twenties led me to try out as many religions as I could, eventually leading to serious study of Buddhism. I still have quite a fondness for world religions and Campbell's archetypes, but today I call myself a Catholic with a deep appreciation of Buddhism. My husband, I think, calls himself a Buddhist with an appreciation of Catholicism. Call us Southern, but we both believe in prayer and miracles.
The hospital where I work has a small children's chapel that has always been one of my favorite places to visit. My whole life, I have been drawn to numens of various sorts, be they quiet groves or towering cathedrals. I'm almost convinced that I would have become a nun of some kind if I had never married because of how much I wish I could live in a church and attend Mass all the time. It's just so comforting and centering to me to be in a place where human beings gather to pray and meditate. I often find my way down to the hospital chapel over lunch break where I sit and pray for our patients. Sometimes I pray for my own patients and sometimes I just open the prayer request book and pick a few recent names - those can be the most difficult because they are usually letters written by parents for their children. It reminds me of the connection between us all and of the way that each of us are faced with times of fear, suffering, and hope, and of the spiritual crisis that so many face during illness. A hospital is a place just full of human emotion and full of people praying, worrying, hoping...In a way, it's like working in a cathedral except that we have no formal ceremonies of celebration and our rituals consist of taking vital signs, charting rounds, changing linens, rinsing bed pans... I try to make my job a working meditation and, with 12 hour shifts over night, I often have quite a lot of time to pray. This month, it's been harder to think of my patients and most of my prayer has been selfish.
When your child is sick, it can be so hard to have faith. It was hard for me, even though if anyone should have unshakable faith, it should be my family! You see, this is not our first journey with a frightening diagnosis. At 23, my husband was diagnosed with brain cancer - a grade 3 anaplastic astrocytoma. Over the next 5 years, he came through two brain surgeries, chemotherapy, and radiation and today, miraculously, is none the worse for wear ...except that he now has a great excuse for forgetting to take the trash out! Cutler's brain cancer deepened both of our spirituality and was, in the end, an experience that we are thankful for because of what it taught us about living and about faith. It also served to make us pretty loyal to the skills of the professionals at Duke Hospital. However, when I learned what "Adrenoleukodystrophy" was, I'm almost ashamed to say that I found myself struggling with a selfish faith. I stopped to pray for others, but mostly I was too consumed with my own worry to be very diligent or to think very hard about the suffering of my patients. When I went down to the chapel, I said a general prayer for the loved ones of all of the parents who came here to pray, understanding now how they must feel, but I spent most of my time thinking about my own son. I didn't want to carry my Sorrowful Mother rosary, my favorite because of the beautiful, old frosted blue beads and the lovely, delicate picture of Our Lady. I didn't want to think about the possibility of having certain of those sorrows in common with Mary. I caught myself bargaining:"God, if You make him okay I'll volunteer with the hospital ministry...." "Mother, if you intercede on his behalf, I'll take Third Order Vows..." (which weren't even fair bargains since I've been considering them, anyway!). I'd catch myself and say "I'm sorry. Even if you don't, I'll try to do it. I know You don't bargain."
Maybe I sound like a religious nut right now (maybe I AM a religious nut). It strikes me that perhaps I should be concerned that I'm making others uncomfortable with all this prayer talk. Maybe I should take a second again to reassure you that despite whatever neurosis I may or may not have centered around spirituality, it really doesn't bother me what your own beliefs, non-beliefs, and practices are. I really don't intend this to be a judgement of anyone else's beliefs, just a chronicle of my own struggles with faith during this time.
It occurred to me that maybe I should be mad at God. After all, this is really NOT FAIR. Haven't we paid our karmic debt when it comes to healthcare? Haven't we shown how grateful we are for Cutler's health? Didn't we learn a whole lot? Don't I work in healthcare now? Don't I volunteer all my free time with the rescue squad? Aren't I paying it back?! But, despite thinking that maybe I ought to feel angry, I didn't really. I understand the people who do feel angry and anger is part of the coping process, it's totally normal, but I didn't feel angry. Not really. Okay, a little flabbergasted and annoyed -what more?! - but not ANGRY. I don't feel angry because I know that God doesn't cause suffering. Now, Pat Roberson might blame the bad things that happen on the feminists, the pagans, and the gays, but I'd like to believe that I know better. I don't believe in a God that causes suffering; I believe in a God that is love.
My favorite quote is from Thomas Merton and he says "Souls are like athletes that need opponents worthy of them if they are to be tried and extended and pushed to the full use of their powers and rewarded according to their capacity." I believe that suffering is just a part of life and that it's meant to bring out the best in us, to bring us closer to that which we call "God." Still...Still, even knowing this, I do have moments when I am frightened that I am being punished. Now, think of how egotistical that sounds! That God would cause my child to suffer to punish me for being a bad mom, for not being good enough. Rationally, I know that this is ridiculous...but rationality and emotion don't usually go hand in hand. Despite feeling a little guilty for being so consumed by worry, feeling so frail in my faith, I know that THIS IS OKAY. My sensei back when I was studying Buddhism told a story about a man who said that he was struggling after his wife died. Buddhism teaches non-attachment (surprise! So does Catholicism!), but he was suffering a great deal, missing his wife, and didn't find it possible to not be attached right then. His sensei said to the man "That's okay! You're only human! Don't get too attached to non-attachment." I'm only human. I don't think God expects perfection; I think that maybe that we sincerely want to be more perfect is enough. I guess what I'm trying to say is that I'm okay and you're okay. Whatever you're doing, wherever you're at, you who are struggling with crisis, with faith, who is feeling imperfect, who is failing... Whatever it is you believe, you're okay. We're all only human.
I have a bit of a patchwork quilt of a spiritual background. Born into a maternal family proud of its Catholic heritage and adopted into a paternal family strong in their Episcopal faith, I split my childhood between the two religions. To this day I have a preference for some of the Anglican prayers and sometimes accidentally say them during Catholic Mass, and I still consider my father's church part of my family. I admit that I miss their musical arrangement of the Doxology. It's prettier than ours. A crisis of faith in my teens and twenties led me to try out as many religions as I could, eventually leading to serious study of Buddhism. I still have quite a fondness for world religions and Campbell's archetypes, but today I call myself a Catholic with a deep appreciation of Buddhism. My husband, I think, calls himself a Buddhist with an appreciation of Catholicism. Call us Southern, but we both believe in prayer and miracles.
The hospital where I work has a small children's chapel that has always been one of my favorite places to visit. My whole life, I have been drawn to numens of various sorts, be they quiet groves or towering cathedrals. I'm almost convinced that I would have become a nun of some kind if I had never married because of how much I wish I could live in a church and attend Mass all the time. It's just so comforting and centering to me to be in a place where human beings gather to pray and meditate. I often find my way down to the hospital chapel over lunch break where I sit and pray for our patients. Sometimes I pray for my own patients and sometimes I just open the prayer request book and pick a few recent names - those can be the most difficult because they are usually letters written by parents for their children. It reminds me of the connection between us all and of the way that each of us are faced with times of fear, suffering, and hope, and of the spiritual crisis that so many face during illness. A hospital is a place just full of human emotion and full of people praying, worrying, hoping...In a way, it's like working in a cathedral except that we have no formal ceremonies of celebration and our rituals consist of taking vital signs, charting rounds, changing linens, rinsing bed pans... I try to make my job a working meditation and, with 12 hour shifts over night, I often have quite a lot of time to pray. This month, it's been harder to think of my patients and most of my prayer has been selfish.
When your child is sick, it can be so hard to have faith. It was hard for me, even though if anyone should have unshakable faith, it should be my family! You see, this is not our first journey with a frightening diagnosis. At 23, my husband was diagnosed with brain cancer - a grade 3 anaplastic astrocytoma. Over the next 5 years, he came through two brain surgeries, chemotherapy, and radiation and today, miraculously, is none the worse for wear ...except that he now has a great excuse for forgetting to take the trash out! Cutler's brain cancer deepened both of our spirituality and was, in the end, an experience that we are thankful for because of what it taught us about living and about faith. It also served to make us pretty loyal to the skills of the professionals at Duke Hospital. However, when I learned what "Adrenoleukodystrophy" was, I'm almost ashamed to say that I found myself struggling with a selfish faith. I stopped to pray for others, but mostly I was too consumed with my own worry to be very diligent or to think very hard about the suffering of my patients. When I went down to the chapel, I said a general prayer for the loved ones of all of the parents who came here to pray, understanding now how they must feel, but I spent most of my time thinking about my own son. I didn't want to carry my Sorrowful Mother rosary, my favorite because of the beautiful, old frosted blue beads and the lovely, delicate picture of Our Lady. I didn't want to think about the possibility of having certain of those sorrows in common with Mary. I caught myself bargaining:"God, if You make him okay I'll volunteer with the hospital ministry...." "Mother, if you intercede on his behalf, I'll take Third Order Vows..." (which weren't even fair bargains since I've been considering them, anyway!). I'd catch myself and say "I'm sorry. Even if you don't, I'll try to do it. I know You don't bargain."
Maybe I sound like a religious nut right now (maybe I AM a religious nut). It strikes me that perhaps I should be concerned that I'm making others uncomfortable with all this prayer talk. Maybe I should take a second again to reassure you that despite whatever neurosis I may or may not have centered around spirituality, it really doesn't bother me what your own beliefs, non-beliefs, and practices are. I really don't intend this to be a judgement of anyone else's beliefs, just a chronicle of my own struggles with faith during this time.
It occurred to me that maybe I should be mad at God. After all, this is really NOT FAIR. Haven't we paid our karmic debt when it comes to healthcare? Haven't we shown how grateful we are for Cutler's health? Didn't we learn a whole lot? Don't I work in healthcare now? Don't I volunteer all my free time with the rescue squad? Aren't I paying it back?! But, despite thinking that maybe I ought to feel angry, I didn't really. I understand the people who do feel angry and anger is part of the coping process, it's totally normal, but I didn't feel angry. Not really. Okay, a little flabbergasted and annoyed -what more?! - but not ANGRY. I don't feel angry because I know that God doesn't cause suffering. Now, Pat Roberson might blame the bad things that happen on the feminists, the pagans, and the gays, but I'd like to believe that I know better. I don't believe in a God that causes suffering; I believe in a God that is love.
My favorite quote is from Thomas Merton and he says "Souls are like athletes that need opponents worthy of them if they are to be tried and extended and pushed to the full use of their powers and rewarded according to their capacity." I believe that suffering is just a part of life and that it's meant to bring out the best in us, to bring us closer to that which we call "God." Still...Still, even knowing this, I do have moments when I am frightened that I am being punished. Now, think of how egotistical that sounds! That God would cause my child to suffer to punish me for being a bad mom, for not being good enough. Rationally, I know that this is ridiculous...but rationality and emotion don't usually go hand in hand. Despite feeling a little guilty for being so consumed by worry, feeling so frail in my faith, I know that THIS IS OKAY. My sensei back when I was studying Buddhism told a story about a man who said that he was struggling after his wife died. Buddhism teaches non-attachment (surprise! So does Catholicism!), but he was suffering a great deal, missing his wife, and didn't find it possible to not be attached right then. His sensei said to the man "That's okay! You're only human! Don't get too attached to non-attachment." I'm only human. I don't think God expects perfection; I think that maybe that we sincerely want to be more perfect is enough. I guess what I'm trying to say is that I'm okay and you're okay. Whatever you're doing, wherever you're at, you who are struggling with crisis, with faith, who is feeling imperfect, who is failing... Whatever it is you believe, you're okay. We're all only human.
Monday, February 25, 2013
A Day for Hope
The phone was already on my lap when it rang this morning. We'd been waiting for this call since Saturday and I recognized the number right away as Dr. H, Gabe's endocrinologist. Her voice was bubbly when she said her hellos and good mornings and I found myself wondering if it was because she had good news...or maybe because she had bad news and was compensating with a cheerful tone...or maybe it was because she's really a cheerful person in general and the news she was about to deliver had nothing to do with her tone of voice.... I didn't have to dissect her motives for long, though.
The preliminary report on Gabe's MRI had come back and the verdict is that his brain looks.......... totally normal! I took my husband's hand as she kept talking, trying not to sob with relief into this lovely doctor's ear. Saturday morning, Gabriel went to Duke Hospital for an MRI. He was in that room for an awfully long while, and I sat there, rosary in hand, and prayed the entire time, half-convinced that it was taking so long because they found something they wanted to look harder at. Over the rest of the day and Sunday, I worked on coming to terms with hearing the worst. I dared to hope that the damage they found would be minor, despite Gabe being on the upper age limits of diagnosing childhood ALD, and so a bone marrow transplant would still be an option. I barely hoped that there would be no damage at all. I thought about how we would cope (IF we would cope) if they found too much damage to make a transplant possible. When friends asked me what I thought, I told them that I thought there would be demyelinization, but thought it would be less severe because _____ and here I'd list the reasons for and against my hopes as if by quantifying them it would make whatever the doctor said more easy to handle.
Sunday, I spent the day doing whatever the children wanted to do. Gabriel wanted to go bowling and when he asked for one more game, I was want to say no. But, then I thought "what if I never get to bowl with him again? What if today is the last time? What if he never walks again after the transplant? What if he goes blind? What if...What if he dies?" How much would I regret not saying 'yes' to one more game? So, we laughed and played, danced to the terrible "young and hip" music the DJ was playing, and we bowled one more game. Then, we went out for ice cream to Maple View Farm, a great local dairy farm where they raise their own feed, make their own antibiotic and hormone free dairy products, and all the dairy cows have names. I love them, and their ice cream is superb, but they make me think of a Portlandia skit every time I describe them. A clown named Willy made them balloon animals. Gabe chose a hot pink elephant- his favorite color and animal. Cai chose a dog and got a bonus capybara. It's Cai. Don't ask. By the time we went to their favorite park, a place with spinning cup seats and a jungle gym made of ropes, Gabriel was feeling sick, cranky, and tired, but Cai charmed him into playing by spinning him in the cups until he couldn't see straight and both could hardly breathe for laughing so hard. I took a million pictures and I wore sunglasses. That's a tip for you parents out there: sunglasses. When watching your children play together and worrying about the worst, sunglasses hide the tears that spring to your eyes. We had fun together, we laughed, and played for all we were worth. But, it was bitter sweet. All the while I couldn't help but think "What if it's the last time? What about all those parents who never get to know it's the last time? What about the children who are taken suddenly and all the lasts are in retrospect, never planned? At least we have this."
And yet, this morning, there was hope. The news was better than I dared to believe possible. Dr. H said that the bone marrow team will be going over Gabriel's MRI with a fine toothed comb. They have to give him something called a Loes Score, which is a point system for rating the amount of abnormalities and atrophy in the brain that goes from 0 to 34. A normal, healthy brain will have a score of 0 to 0.5. A brain with severe damage has 14 or more points. In order to qualify for a Bone Marrow transplant, the damage has to be below a certain number - usually an 8 or 9. For numbers higher than this, a bone marrow transplant may not halt the demyelinization process and may even make things worse. Dr. H said that she doesn't know at this point what the team will want to do and whether they would even want to proceed with a transplant if his brain is showing no evidence of damage. Thursday is the magic day when we find out what the team has learned from the MRI analysis and whether they think that Gabriel should have a transplant.
I think I'd temporarily forgotten what it felt like to feel so happy or so grateful. Thank you all for your prayers, your kind words, your love. We're moved beyond belief by the sentiments of friends, family, and strangers. Not every parent who hears that their boy has ALD will get to hear such wonderful news as we heard this morning. Not every child with ALD is a candidate for transplant and not every mother will get to say that today is NOT the last day at the park. We're never promised tomorrow, but today we have hope. I pray that Gabriel's blessings can give hope to another family. Keep faith, savor each moment, say "yes" more often, and love harder. Today is a day for hope.
Sunday, February 24, 2013
Adrenoleuko-WHAT?
"What is Adrenoleukodystrophy, exactly?" That's the first question our friends and family want to know. We could point them to websites that give a general overview like this one or we could point to more in-depth scientific articles like this one, but what they are usually looking for is a quick, bite-sized explaination. So, we should go ahead and get that out of the way first thing. Adrenoleukosytrophy, or ALD, is a genetic disease caused by a mutation of the ABCD1 gene on the X chromosome. That sounds like we're about to launch into an episode of House, especially when it's said in the detached analytic tone I suddenly get when I start talking about the objective side of medical science. It's a pretty easy explanation actually, and it only requires the most basic grasp of genetics. Do you remember biology class way back in high school or college? Remember drawing little squares that you filled up with lower case (recessive genes) and capital letters (dominant genes) to decide if Gregor Mendel's pea plants would be purple or white? How about the table you made to predict if some hypothetical baby would be blue eyed or brown haired depending on the genotype of its parents?
Yes? No? Ringing a bell? Now, think about the next (easier) part of inheritance you learned about, which was probably infinitely more interesting to you - meiosis (sex cell division) and baby making. What makes a lady zygote are two X chromosomes (XX). What makes a gentleman zygote is an X and a Y chromosome. (XY). When the mom's egg cells are made, they get one half of her genetic code in each cell. All that mom has to give are X chromosomes because she only has Xs. When the dad's sperm cells are made, each one gets half of his genetic code. Dad's cells are going to get either an X or a Y because he has one X and one Y. When the sperm and egg combine you have (Captain Planet!) a full genetic code for a baby: Half are the dad's chromosomes and half are the mom's. Whether you have a boy or a girl, then, is entirely up to the daddy and which of his two chromosomes, the X or the Y, is inside the winner of this little swimming competition.
In this illustration, we're combining the two things we talked about above: Recessive genes and sex chromosomes. The mutation that causes Adrenoleukodystrophy is on the X chromosome. In this illustration, the affected X is colored red. A mother with one mutated X chromosome and one normal X chromosome, like me and the mother in the illustration, is called a carrier. She may show some symptoms of ALD, but these are usually mild and develop later in life. When she partners with a dad who has a normal X (i.e. does not have ALD), she has a 50/50 chance of passing the gene on to their offspring. Her daughters who inherit the mutated X chromosome will also be carriers. Boys with a mutated X have no other, normal, X chromosome to compensate for the damaged X (they only have one X and one Y), so they will have Adrenoleukodystrophy. Boys can not get ALD from their fathers because they got their X from Mom and their Y from Dad (if dad gave the X, he would be a she).
Adrenoleukodystrophy comes in a few different flavors. The childhood form is usually the most aggressive and Gabe is on the older end to be diagnosed with that as it usually is diagnosed between 4 and 10. The body is unable to break down very-long-chain-fatty-acids, leading to a build up of these substances that cause a break down of the adrenals and the myelin sheaths of the nerves and brain. Untreated, or detected too late for treatment, this eventually will lead to a vegetative state and death. Other less aggressive forms might only attack only the adrenals or may attack the perpheral neurons, but might not attack the brain. Treatment during an early stage of this disease can halt the demyelinization and consists of bone marrow and stem cell transplants. At this point, we don't know exactly what form of ALD Gabriel has. We are anxiously awaiting the results of his MRI to give us some indication as to the status of his brain. Gabe has an appointment on Thursday, February 28, to meet and be evaluated by his Bone Marrow Team at Duke.
From a human side, the outside, what does this actually look like? For Gabriel, it looked like a very small boy who never seemed to gain weight and was perpetually too short for the good rides at the fair or theme park, a great tan compared to the glow-in-the-dark complexions of the rest of the nuclear family, bouts with depression and anxiety, and increasing difficulty with ADHD symptoms. What finally led to his diagnosis looked like a very sudden and bad case of stomach flu. He wound up in the ER in an adrenal crisis: vomiting, weak, severely dehydrated, with ketotic hypoglycemia, a blood glucose around 30, an altered mental status, pale with blue lips and extremities, slow capillary refill, and having lost several pounds of water weight over the course of a day.
What does it look like from a parent's point of view? Terrifying. Like a giant hole of near-hopelessness. Like trying to be strong for your little boy while you just want to throw a giant screaming tantrum and cry yourself to oblivion. Like saying the rosary and "I love you" more than you've ever said anything before.
Yes? No? Ringing a bell? Now, think about the next (easier) part of inheritance you learned about, which was probably infinitely more interesting to you - meiosis (sex cell division) and baby making. What makes a lady zygote are two X chromosomes (XX). What makes a gentleman zygote is an X and a Y chromosome. (XY). When the mom's egg cells are made, they get one half of her genetic code in each cell. All that mom has to give are X chromosomes because she only has Xs. When the dad's sperm cells are made, each one gets half of his genetic code. Dad's cells are going to get either an X or a Y because he has one X and one Y. When the sperm and egg combine you have (Captain Planet!) a full genetic code for a baby: Half are the dad's chromosomes and half are the mom's. Whether you have a boy or a girl, then, is entirely up to the daddy and which of his two chromosomes, the X or the Y, is inside the winner of this little swimming competition.
Adrenoleukodystrophy comes in a few different flavors. The childhood form is usually the most aggressive and Gabe is on the older end to be diagnosed with that as it usually is diagnosed between 4 and 10. The body is unable to break down very-long-chain-fatty-acids, leading to a build up of these substances that cause a break down of the adrenals and the myelin sheaths of the nerves and brain. Untreated, or detected too late for treatment, this eventually will lead to a vegetative state and death. Other less aggressive forms might only attack only the adrenals or may attack the perpheral neurons, but might not attack the brain. Treatment during an early stage of this disease can halt the demyelinization and consists of bone marrow and stem cell transplants. At this point, we don't know exactly what form of ALD Gabriel has. We are anxiously awaiting the results of his MRI to give us some indication as to the status of his brain. Gabe has an appointment on Thursday, February 28, to meet and be evaluated by his Bone Marrow Team at Duke.
From a human side, the outside, what does this actually look like? For Gabriel, it looked like a very small boy who never seemed to gain weight and was perpetually too short for the good rides at the fair or theme park, a great tan compared to the glow-in-the-dark complexions of the rest of the nuclear family, bouts with depression and anxiety, and increasing difficulty with ADHD symptoms. What finally led to his diagnosis looked like a very sudden and bad case of stomach flu. He wound up in the ER in an adrenal crisis: vomiting, weak, severely dehydrated, with ketotic hypoglycemia, a blood glucose around 30, an altered mental status, pale with blue lips and extremities, slow capillary refill, and having lost several pounds of water weight over the course of a day.
What does it look like from a parent's point of view? Terrifying. Like a giant hole of near-hopelessness. Like trying to be strong for your little boy while you just want to throw a giant screaming tantrum and cry yourself to oblivion. Like saying the rosary and "I love you" more than you've ever said anything before.
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