Today I'm going to interrupt my regularly-scheduled narcissism with a few words about someone else, my husband. It will only be a few words, though, since Matt has a more-highly developed sense of privacy and personal pride than I seem to have. "Do you have any boundaries?" he used to occasionally ask in response to my tell-all posts on Paul's old Caringbridge site. "Any at all?" Hmm. Good question. However, nothing I'm going to say today is anything people who know us don't already know.
My whole family helped write the little description under this blog title. My kids are "description-resistant" because Ian kept coming up with more and more superlatives to describe himself but didn't care for some of my more-realistic adjectives, while Paul just wanted to be called "nice." Matt and I together came up with his descriptive phrase, "increasingly-gimpy-but-charming." We had a discussion about the placement of hypens, with Matt initially lobbying for no hyphen between "increasingly" and "gimpy." This, I pointed out, would imply that he was becoming more charming with every passing day as well as becoming more gimpy, when in fact his level of charmingness has remained fairly stable over the years.
If you're thinking that "gimpy", by the way, is not a very nice word to describe someone who a physical disability that results in a gait disturbance, you would be correct. I think it's one of those words that you get to use only if you actually have such a disability, or are married to someone who uses it.
Matt has a rare and incurable neurological condition called adrenomyeloneuropathy (AMN), which is the adult-onset form of adrenoleukodystrophy (ALD). AMN/ALD is an x-linked genetic disorder, which means that it is passed down through the X-chromosone and only seriously affects males. Females with the gene are carriers. All males who inherit the gene will develop either ALD or AMN. Symptoms are caused by demyelination of the nerve sheaths. Without myelin, nerve signals cannot travel where they need to go. If signals cannot travel, the nerves themselves become not so much useful.
If symptoms present in childhood as adrenoleukodystrophy (ALD), the disease is devastating. Demyelination happens in the brain, causing a boy to lose all his faculties one by one until he is in a vegetative state, a process that typically takes about two years. It is always fatal. For those of you old enough to remember the 1993 Susan Sarandon/Nick Nolte movie "Lorenzo's Oil," that movie is about ALD.
If symptoms present in adulthood, the disease is called adrenomyeloneuropathy (AMN) and is usually much milder, though there is a wide variation of symptoms and severity. More than half the time, demyelination is confined to the spine.
Matt (along with his two brothers) inherited AMN/ALD from his mother's x-chromosone. It also means that if Matt had had daughters, they would have had a 50% chance of inheriting the gene. More to the point, though, it means that Matt's sons are 100% free and clear. Instead of Matt's problematic X-chromosone, they have my stellar, disease-free one. No worries there.
If you click on the links above, and if you know Matt and have seen him walking around, you will quickly realize that so far, Matt has been extraordinarily lucky in the mildness of his symptoms. There is no doubt that they will progress, and we don't know when, how, or how quickly, but so far he has been incredibly fortunate.
Not everyone in his family has been. Both of Matt's brothers are far more severely affected than he is. Also, about 14 years ago, when Matt and I had been married just a couple of years, his cousin Zach was diagnosed with ALD at age 7 or so; it is because of Zach that the rest of the family was tested and diagnosed. Zach passed away a few years ago.
And finally, the fact that prompted this post. Today, Matt is attending the funeral of his cousin Chris, who died of AMN this past Wednesday. He was 43.
I'm so sorry for your loss. Our thoughts and prayers are with all of your family, Matt. We're here if you need anything this weekend, Lynn.
Posted by: Adrian Buchanan | 11/14/2009 at 10:26 AM
I'm so sorry to hear about Matt's cousin.
Posted by: Laura | 11/14/2009 at 03:42 PM
I am so sorry to hear about Chris. I have always thought that the worse thing in the world to bear is the death of someone who should still have more time with us.
It is hard for me to have words of comfort when I know that the pain is so great, I guess we just have to hang onto the happy memories, work through the hurtful times and get the most out of each day.
I love you all,
Aunt Sandi
Posted by: APeacefulSunrise | 11/22/2009 at 09:10 PM