The Genetic News

I went to the geneticist on Thursday thinking that the worst news I could get would be that I had Vascular Ehler-Danlos Syndrome. Once again I had a failure of imagination.
Before I left for the big city I picked up a copy of my mom's autopsy report that I had had faxed to my internist's office shortly after her death.
Thanks to my nurse's training I could instantly translate the jargon that protects most of us from the more horrible details that it contained and quickly realized what the doctor later told me, that she was surprised that Mom lived to be 64. At the time of her death she had 5 aneurysms, a torturous (twisted) aorta and several other findings.
Even though I was standing there as evidence that my mother had obviously given birth at least once, she continued to ask me about my mother's pregnancies. I told her that she had been pregnant twice, at an early age, 20 and 21, delivered us both at 34 weeks and then had not been able to get pregnant again. I was taken aback when she told be that was a good thing. She then went on to quiz me about the pregnancies of my aunts, cousins and nieces with emphases on their ages at deliveries, gestational ages, which seem to have been fairly early upon examination and was relieved to discover that no one had ever had a uterine or aortic rupture or died during pregnancy. Of course most of the women in my family give birth early in their lives, one or twice and then never again.
Finally at hour 2 of my appointment is where thing went from interesting to scary. She noted my widespread eyes, that I artfully disguise with makeup, my velvety skin, my translucent skin through which you can see all the blood vessels in my chest,my poorly healing skin as evidenced by various scars and surgical incisions and my old hands (her words, not mine, that one hurt).
But the one that tipped the scale was my unique and and seemly harmless bifid uvula. Yup, that little thing that hangs down from your throat should not split in two like a snake unless you have a cleft palate, or are American Indian or unless you have Loeys-Deitz Syndrome.
After I shared my bifid uvula with all the learning interns and residents they could round up (I am that kind of patient, thank God I wasn't in the stirrup!), we finished the rest of the exam and then the doctor shared with me the very scary news and implications of the bifid uvula, the rest of my physical exam and the finding of my mother's autopsy results.
The short version is that she thinks that based on these things she thinks I should have my mother's tissue tested for Vascular Ehler-Danlos and Loey-Deitz Syndrome and them when she tests positive for one we will know which to test the rest of the family for. She would also like my uncle's tissue's as well to test, both died in 2006 and were autopsied, so this should not be difficult, other than contacting my aunt and the authorities. However, the down side is the cost, which is $3000.00 to test each.. Not covered by insurance, and we are pouring our money into our post Ike recovery, so we will most like just go with genetic testing for me. The blood has already been drawn and I am thinking to just test my mom's tissue once we know which one I have that will save us some as it seem likely that we have the more serious Leoy-Dietz.
I am in a fog and have felt like I should have a sign above my head exclaiming "Dead Woman Walking". My husband and I have tried to use humor to deal with this horrible turn of events but I am just barely keeping my head above the water. The life expectancy of those with Vascular Ehler Danlos is between 44 to 48, 36 for Leoy-Deitz . I just had my 45th birthday.
I am still processing and have not yet told my daughters about this horrible turn of events. I am praying that the genetic clues are wrong and do not really lead to this disease and that we can continue to search for something that won't have a 50 percent mortality rate during pregnancy and doesn't involve a disease that is autosomal dominant as both of these are. Both of my daughters share my mystery affliction with me.
It is for them that I am most sad, sad at the thought of their shortened lives, to have to risk child bearing with a 50 percent mortality rate with a 50 percent chance of passing this disease on to their child? What kind of risk is that, simply unacceptable is what I think and I am overwhelmed with sadness that I have done this to my children.
My days are passing in a familiar pattern of waking, going through the motions and then being so grateful to tumble to bed at night to toss there with thoughts of "no more babies", not just for me but for my girls, ever. It breaks my heart.