We got a call last night from our geneticist, Dr. Golabi, and Sharon, our genetic counselor. While they've yet to receive the written report from Germany, the initial results came back negative for Multiple Pterygium Syndrome. Needless to say, we were shocked, since all signs pointed to MPS as a diagnosis. It's not certain that Cayden didn't have MPS, but the genes tested thus far (CHRNG sequence) came back negative. Dr. Golabi and Sharon are already seeking out other resources, labs, doctors who may be able to conduct additional testing with the fibroblasts harvested from the skin biopsy taken before Cayden died.
They told us we also need to be open to other possible diagnoses, despite everyone's hunches that MPS was it. Pena-Shokeir Syndrome (I) is another disease that Dr. Golabi mentioned in the past, that we may revisit now. Pena-Shokeir is even more rare than MPS, with only 80-100 cases in the literature. Info on this disease can be found at: http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,520/
It is not completely clear to us at this point, but it does not appear that genetic testing is available for Pena-Shokeir, other than using ultrasound to look for symptoms during pregnancy. This is hugely distressing, as we would like to be able to test subsequent pregnancies early, which we thought we'd be able to do with Multiple Pterygium Syndrome. If it's determined that Cayden had Pena-Shokeir, it doesn't seem like we will be able to do prenatal testing.
We were definitely surprised by yesterday's news, but will wait as patiently as possible to get more information. We are confident that we are in the best place with the best possible team working extremely hard to get us answers.
support group
10 years ago
3 comments:
Paige,
Hang in there. I am sure it is difficult to be patient for answers. As you said you have a good team of doctors and we are also fortunate to be living in a time where so much has been studied and more is known now than ever before. My thoughts are with you all the way, every step of the journey.
Karen
Wow... I'm speechless. The not knowing is so hard, isn't it? Takes away even more of the sense of control we thought we had.
I don't know if this is possible, but a friend whose first child was born with another rare condition (I can tell you the details if you want), when they were planning a second pregnancy, they wanted to do prenatal testing early on to see if that child would have the same condition (a one in 4 chance, I think). Such a test didn't exist, so they contacted the Mayo Clinic, and paid to have Mayo create such a test, which now exists for others. Where there's a will, there's sometimes a way...
I was sent here by the lovely Gal. A very sad welcome to this awful club no one wants to be a member of. Cayden will be loved and remembered here always.
Huge hugs from afar,
Sally
Post a Comment