Nothing new comes with the diagnosis ... except ... I surprised myself by bursting into tears and sobbing my heart out when I heard it, because I had almost convinced myself (subconsciously) that Peter's current vim meant that his bone marrow might not have failed, that maybe there was more than 5% working now, and all of this was a fading nightmare. Yes, he really is going to die young. Before he's 30, probably, from infection due to a low white count, or bleeding due to low platelets. The longer he lives, the higher the chances that he will develop leukemia or aggressive cancer. Unraveling DNA does bad things. Cancers can't be treated effectively because a person with DC can't tolerate chemo or radiation, which are already harmful to DNA.
Of course, it's also good to know for sure what is going on, to have a name, and to be able to join a support group. There aren't nearly as many resources out there for DC families as there are for Fanconi families, but there are still a few opportunities. I'll be joining in a Skype call next Sunday. It will be good to connect with other moms and dads like me.
As usual, this new information prompted a wee-hours literature search online, to glean anything new I could find about DC and other telomere disorders. I am very eager to hear (eventually) about the results of DNA sequencing currently underway at Rockefeller University. They have a sample of Peter's blood and are putting his DNA through a rapid sequencing process that focuses on a relatively small part of the genome where the majority of genetic disorders have their origin. As in Fanconi, there are a number of different genes that are implicated in DC. There is evidence of differences in the course of the disease depending on the type of inheritance (autosomal recessive, x-linked, autosomal dominant) and the gene(s) involved. The length of the telomeres is a factor in life expectancy, but there are other telomere chemistry disturbances that also play a role, so length alone doesn't say much.
Based on Peter's signs and symptoms and age of bone marrow failure onset, I am guessing that he has an autosomal dominant form and that his defect is in the TERT, TERC or TINF2 genes. That means less of the visable signs that make for an earlier diagnosis in many cases: degrading fingernails, web-like pigmentation differences, and white patches in the mouth (leukoplakia). If I'm right, then his course will be characterized more by bone marrow failure, leukemia and malignancy. 30 would be a good guess as to his "likely" life expectancy, though that is just an average, and with his bone marrow failure already apparent, that is probably a stretch.
In addition to all of the above, I learned some amazing things from the explosion of research in DC that has recently happened. One of the reasons why scientists are so interested in DC is that some of its symptoms are similar to premature aging. Understanding the mechanisms behind a genetic telomere defect will carry over directly to a better understanding of the aging process -- and possibly finding ways to increase healthy longevity in genetically normal people. You can only imagine how big a deal THAT would be!
So ... shorter telomeres are linked to stressors during pregnancy. My poor little guy inherited his disorder, but most likely it was exacerbated by what must have been a really difficult prenatal environment based on what little we know. Neglect and deprivation are also linked to shorter telomeres. At least we don't have that to feel bad about. A very recent study demonstrated that people with DC (and short telomeres) are much more likely to have diabetes (an age-related disorder in most people). There is also a newly-discovered link between short telomeres and ... wait for it ... BIPOLAR DISORDER. All of this is new in just the last few years.
After the recent learnings about aging and shortening of telomeres, there are companies offering telomere analysis to predict a person's likely lifespan. Do not be deceived. The scientists who really understand this stuff say that the best simple predictor of your lifespan is still your date of birth. Think of all the money that will be spent on this nonsense by people who believe the hype.
Peter continues to be hale and hearty. His latest blood counts were almost identical to the previous round of tests last summer. His white and red counts are just below normal. His platelets remain very low (around 25) but that is not a "dangerous" level yet. We got him a flu shot. Last winter he was very healthy except for the diabetes that nearly dispatched him to the beyond before we identified it. Ever since we treated the diabetes, he's been much better. However, he is needing more and more and more insulin these days. Early organ failure is part of DC. People can even develop prematurely grey hair. Peter's pancreas is clearly toast at this point.
I wish I had a picture to share from the Homecoming Dance last weekend. Peter's special ed group went out to dinner at a nice restaurant and then went to the dance, where they had a special area and refreshment table for those who wanted it. Not Peter. He was out in the middle of the floor. He doesn't want to hang out with (his words) those "handicapped kids". He didn't dance WITH anyone, but he says he danced. I believe him!
At the start of school, Peter's drama teacher from last year, who has taken a shine to him, asked him to be her assistant for the year's first musical, Xanadu. So Peter has been caught up in a whirl of rehearsals where he has become an integral part of the cast and crew. It's not clear what he really does, but it's very clear that he loves it and that everyone loves him. Performances started on Thursday and continue through tonight. On the first performance day, Peter was presented with a card signed by everybody involved. He wouldn't let us look at it ("I got a card but you can't look at it because it's mine and I want to 'treasure it' on my own.") Of course I sneaked a peak. My eyes welled up. An outpouring of love. Last night he came home with a small bouquet of roses, given to him by one of the leads in the show. Tonight he'll experience the incredible fun and emotion of a cast party. Since he has another 4.5 years of high school, this is a wonderful development in his life. Something important to be part of. There is even the possibility of community theater down the road. What a blessing! Drama was one of only 2 or 3 "regular" classes he'll ever take.
I tried to talk to Peter about getting something nice to wear to the Homecoming Dance, but he refused to discuss it -- typical bipolar behavior. Then the night before the dance he suddenly wanted a sport coat. A sport coat? For a kid under 5 feet with a 44" chest? He begged. I couldn't imagine where to go, but eventually settled on Men's Warehouse. I knew that for Peter, if he had to roll up the sleeves, it would be OK as long as he had a sport coat. So in we went, and with great gravity, Peter asked for a sport coat in his size. The salesman measured him and immediately found a jacket that looked perfect. He quietly slipped it onto Peter and then -- magic. Peter stood in front of the mirror and his eyes just sparkled and sparkled. "I think I'll take this one", he said, with enormous dignity. It fits perfectly, and the sleeves are only an inch too long.
Before we went shopping, I found a pair of khaki dress pants that I had bought before Peter lost all the weight last winter due to untreated diabetes. Time was short, and my sewing stuff is packed due to my upcoming move, so I hemmed them with duct tape. (He's gained back all the weight and more, so they fit well). I figured he'd be happy with dress pants and a jacket. But after we bought the jacket, Peter suddenly said, "OK, mom, now we need dress shoes". DRESS SHOES? This boy wears the same pair of sneakers year in and year out. He'd wear the same pair of socks if he could. It is like moving a mountain to get him to change his socks. The stench can be dreadful sometimes. So off we went to Payless. I was anxious, because he rarely shops without a loud meltdown in public, and he had done so well at Men's Warehouse. I hoped we would find something quickly, but Peter's feet are malformed and therefore odd-shaped. We were lucky to bump into a neighboring dad who knows Peter well and -- in his youth -- sold shoes. He helped us find a perfect pair of slip-ons that Peter insisted on wearing out of the store. We couldn't leave, though, until he got some dress socks too.
I assumed that Peter would wear one of his spiffy extra-short extra-husky polo shirts with his new dress clothes. When left to his own devices, he typically puts on a polo (with jeans and sneakers) when other kids are dressing up. Thus, I was shocked and appalled when he came out of his room proudly wearing ... ugh ... a huge baggy men's v-neck undershirt from Wal-Mart. I had just bought some for him to keep him warm under his shirts and hoodies this winter. I did everything possible to convince him that an undershirt that was longer than his sport coat was NOT COOL (even daring to induce a meltdown) but he could. not. be. moved. He loved the undershirt, because it was a MEN'S undershirt. So off he went with great pride. I only wish he had allowed me to take a photo. He did look absolutely marvelous despite the undershirt.
That's my Peter. Making ever day count in his own peculiar way. May it always be so!
