Great News

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

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

This was about to all become moot.

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

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

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

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

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

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

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

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