Two Fridays ago, W and I headed up to St. Louis for two follow-up appointments with his specialists at Children's. First we saw his Hematologist and there were two big topics of discussion--Neupogen dosing and baby #2's cord blood. W's doctor received dosing information from the Severe Chronic Neutropenia International Registry for Neupogen that differed from her dosing. She's waiting on the literature/studies that based their decisions but she basically told us that we have two options when it comes to dosing W's Neupogen: 1) current dose that's given on MWF (her suggestion), or 2) smaller dose given every day of the week (SCNIR's suggestion). I found some Neupogen curves online that demonstrate the difference in dosing and how it affects ANC counts, risk of infection, and bone pain. Although the MWF dose is currently working, I can see the benefits for giving Neupogen daily. However, that's 7 pokes for W in one week, rather than 3. Any advice from other SDS-ers?
The second topic of discussion with W's Hematologist was the various possibilities since I'm expecting baby #2. Like any genetic disorder, the likelihood of baby #2 having SDS is 25%. So, leaving a 75% chance that the baby will not be affected by SDS, we want to save the cord blood for Wade, IF he were to ever need a bone marrow/stem cell transplant and IF baby #2 has the same HLA match for Wade. Once again, a 25% chance exists that baby #2 would have the same HLA as Wade, making it a good match for W to receive the cord blood if needed. I asked the doctor about a cord blood registry that she knew of that banked cord blood privately for a sibling donor. She told me about the St. Louis Cord Blood Registry, a public bank. Although this is a public cord blood bank, they also do what is called a directed donation, meaning that the cord blood from baby #2 will be saved in our family's name only. They are no time constraints on storing the cord blood and no fees in collecting or storing the cord blood. The only time fees would come into play would be if we get the cord blood out specifically for Wade. However, if baby #2 is not an HLA match with Wade or if Wade were to not need a transplant, we can always donate the cord blood back into the "public" part of the bank to be used by anyone else who may need it.
After Hematology, we saw W's GI doctor. I had some questions regarding W's lack of weight gain in the last six months (total gain of 6 oz in six months = not good enough). We are still waiting for a food log analysis from W's dietitian, but I can already bet that W's pancreatic enzyme dosing needs to be increased. I believe he's eating more than what the enzymes can digest, resulting in loose stools and no weight gain. His current dose is 1 capsule for solid food and 2 capsules for a bottle of Pediasure. The GI doctor also thinks that W's enzyme dose needs to be increased, but he would first like to see the food log analysis. Because I'm me, I asked the question, "What if increasing his enzymes still won't help him gain weight?" and his reply was, "Well, if that's the case after optimizing his enzyme dose, then I would refer you to endocrinology, because we would have exhausted the possibilities on the GI and metabolic side of things." So, that's still a possibility if increasing enzymes still won't help W gain weight. SDS-ers: Is this common to have an Endo specialist? What is their role with the treatment of SDS?
So, after a morning full of labs, appointments, and questions/answers, my brain is now overflowing with "what if's" and endless possibilities that I have to wait out....and I'm not a very patient person!
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
June 25, 2012
April 09, 2012
Update on Recent Testing
Update on Liver Enzymes:
Due to Wade's elevated liver enzymes, he had some blood work and urine tests collected to test for mitochondrial disease or any metabolic issues. (see this post). These tests all came back normal and the reason why his liver and pancreas looked the way it did in the ultrasound is because of SDS, not anything else. Thank God!
Update on Bone X-Ray:
The geneticist ordered a full-body bone x-ray since SDS patients typically have skeletal dysplasia (see this post). The results from the x-ray indicates what they would typically find with SDS patients. The geneticist did not find any additional concerns with Wade's bones. He just suggested continuing physical therapy to increase muscle tone.
Update on Parental Genetic Testing:
To confirm Wade's SDS genetic confirmation, they tested me and Adam (see this post).We're currently still awaiting these test results.
**4/26/2012 Update: The genetic test from me and Adam confirmed that each of us carry the SDS gene. Therefore, since we are both carriers, it is a 25% chance that other children we conceive would have SDS too.
**4/26/2012 Update: The genetic test from me and Adam confirmed that each of us carry the SDS gene. Therefore, since we are both carriers, it is a 25% chance that other children we conceive would have SDS too.
Weekly CBC's:
As a way of figuring out the best dose for Wade's Neupogen, we do a CBC weekly--on Monday's. We originally had Wade on Neupogen MWF for about three weeks. Then his counts were too low on Monday, so we changed the dose so he would receive it M-F. After one week of M-F, they noticed that his ANC was still too low on Monday. So next they changed him to receive Neupogen daily (M-S). After one week of daily injections, his ANC count on Monday was 9,450! WOW! So, the Neupogen really does work but the hem/onc doctor said it doesn't need to be that high. So now we're back down to 5 days a week, but instead of skipping Saturday & Sunday, we're skipping Tuesdays and Fridays to keep his counts a little more balanced throughout the week.
March 23, 2012
Testing and Then Some...
Yesterday was a long day in St. Louis full of medical tests--for all three of us!
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!
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!
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