First of all, I should probably begin by saying that Adam and I both joined the Be The Match bone marrow registry in hopes to save someone's life if we were to someday be a match to one in need of a bone marrow transplant. After only being in the registry for 4 months, Adam received a call and was told that he was a possible match for a 61-year old man in Indiana with leukemia. For confirmatory testing, Adam had some blood drawn to double check that he was a good match for the recipient. It came back that he was a good match and Adam will be donating his stem cells via PBSC in April. The video below explains the donation process.
The appointment yesterday at St. Louis University Hospital yesterday was for Adam's information session. Adam completed a full physical with a hematologist/oncologist, received an EKG and chest x-ray, and provided a urine sample and blood test. We also got to see where Adam will be doing his donation--which will take five and a half hours! Yet, a small price to pay for potentially saving someone's life!
After all of the testing for Adam at St. Louis University Hospital, we headed over to St. Louis Children's Hospital for Wade's appointment with a geneticist. Although we already know Wade has SDS, we wanted to follow up with a genetic counselor in St. Louis to talk about parental genetic testing to confirm that the two genetic mutations Wade has for SDS came from each parent. This is the most common explanation for Wade's diagnosis-- making me and Adam each a carrier of SDS. However, sometimes, in rare instances, both mutations can come from one parent. All of this information can help determine the likelihood of another child's chances of having SDS. If Adam and I are both a carrier of SDS, the chance of having another child with SDS is twenty-five percent (shown below).
The genetic counselor also discussed the options available for prenatal testing when we decide to have another child. They will be able to test the baby for SDS with the amniocentesis test. She provided us with the phone number for the Prenatal Genetics clinic at Children's.
After talking to the genetic counselor, the geneticist came in and provided us with information about Shwachman-Diamond Syndrome (nothing we didn't already know). He then said that he would like to do a full-body x-ray in order to get a good look of his bones. So we left the clinic with three orders--genetic test for Adam, genetic test for me, and x-rays for Wade.
First we hit up the lab, where it took forever to register three different people. (I'm so freaking sick of signing the HIPAA). Since they were unsuccessful drawing blood from Wade last week, they had to try again. Luckily, a really good phlebotomist was able to get a vein on Wade (which is near impossible)! There were tears, but at least it was only one stick. They also had to take blood from me and Adam for the parental genetic testing--and no tears from us!
Lastly, we headed down to the Imaging Center for Wade's x-rays. The x-ray technicians were awesome in getting the images taken quickly, since Wade was crying from being held down. It actually wasn't a horrible experience like I thought it might be. Maybe I expected the worse--but it was relief to be done in about 10 minutes!
So, a long day came to an end around 5:30pm! Adam and Wade were both troopers for having so much work done on them. We anticipate all of the results and I'll fill you in when I know more!
No comments:
Post a Comment