20 Weeks and Counting!

So, the half way point in my pregnancy has finally arrived! The second trimester is treating me pretty well and feeling the baby kick and move around is truly awesome! So far, the pregnancy has been great--including less morning sickness than with W! However, I'm gaining weight and showing different than before--my love handles have expanded even more and I hate it!

Yesterday, we had our 20 week ultrasound and met the Maternal Fetal Medicine doctor for high-risk pregnancies. The ultrasound was very exciting and we found out the gender--GIRL!!!! Now my mind is racing with nursery decor, bedding, names, etc! Although we'll re-still use a lot of Wade's equipment and things, I'm still excited about seeing some pink in our house! 

Since we're not doing an amniocentesis test to check for the SDS gene, the only thing the high-risk doctor can do is keep an eye out for IUGR (inter-uterine growth restriction) with this baby. We aren't sure if Wade was IUGR because of SDS, for a reason created by me, or if something went wrong with the pregnancy or development of the placenta. The measurements taken of Baby Girl in the ultrasound showed measurements right on track for 20 weeks. That was a big sigh of relief to hear that the development is normal so far. However, we'll repeat another ultrasound in 6 weeks to check development and growth again. I'm so glad that with this pregnancy, we'll be more cautious and actually do more than one ultrasound! Still praying for a healthy baby! She sure does look cute already!

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.

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.

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!

Filling in the Gaps

W was born at 40 weeks and he was 4 lbs, 12 oz. They considered him IUGR (intrauterine growth restriction) because of his size and my placenta was tested and came back positive for placenta inefficiency. Initially, he did well with APGAR scores of 8/8, but at about 7 minutes of age he developed grunting, retractions and poor color. 


W was diagnosed with pneumonia and we were told he would be in the NICU for 7-10 days to receive antibiotics. He was intubated, then on a CPAP machine for about 2 days, then finally weaned to a nasal cannula. His first CBC at one hour of birth was normal, then WBC and ANC decreased and remained neutropenic since. Assuming he had an infection, an infectious work up was done but tests for Parvo, CMV, HIV and respiratory PCR were all negative. After a few days, they allowed me to breast feed, however, I also had to pump. Due to slow weight gain, we fortified my breastmilk and we did pre and post weights for intake. W was also tachypneic (breathed fast) and was not allowed to breast or bottle feed if his rates were above 80bpm--so they gavage fed him sometimes. After his dose of anitbiotics, negative reports for infectious diseases, and a passing car seat challenge, W was discharged from the NICU on oxygen. He was in the NICU for 20 days and remained on oxygen at home for 2 weeks.

Getting ready to go home from the NICU!

Due to his complications, we knew we had to see several specialists to figure out why he was so small (IUGR) and had low white blood cell counts (ANC). Read on to see his series of specialist visits...


In February 2011 (2 months), W was classified as Failure to Thrive with slow weight gain. He was sent in for labwork to test for cystic fibrosis and other malabsorption issues. All labs came back normal!


In March 2011 (3 months), he saw Hematology and was diagnosed with benign congenital neutropenia and we were told to complete monthly CBCs and report to the ER if he had a fever of 101.5 or higher. During the months, his ANC numbers were consistently low, even as low as 32 in July and 0 in August 2011. The hematologist wrote in her doctor's notes that she suspected Shwachman-Diamond Syndrome, but never mentioned it to me.


In April 2011 (4 months), W's pediatrician diagnosed him with low muscle tone. We were referred to an early intervention screening and we began the process to receive physical therapy and occupational therapy services.


In June 2011 (6 months), W started physical therapy once a week and occupational therapy (for feeding) twice a month. He also saw Neurology because of his low muscle tone and they discovered a very mild case of spastic diplegia, but it was recommended to just continue with physical therapy.


In July 2011 (7 months), W saw a Cardiologist because he was sweating during some feeds. The cardiologist didn't seem concerned and an EKG was normal, so he referred us to Pulmonology because of his fast breathing. The Pulmonologist ordered an upper GI  swallow study to look for obstructive lesions but none were found. We also saw a GI doctor in July because of W's acid reflux and our concern with the large volume of his spit up. He said reflux was so common with this age, that basically he would have to outgrow it.  He prescribed Periactin as a way to increase gastric motility, however, the medication made W a zombie, so we took him off. The GI doctor did tell me that he agreed with the Hematologist about "her hunch with Shwachman-Diamond Syndrome".

In August 2011 (8 months), we finally got in at the Genetics clinic. The geneticists job was easy because two other doctors had already suggested Shwachman Diamond Syndrome and all he did was order the genetic test to confirm it. We also moved from Colorado to Missouri in this month!!


In September 2011 (9 months), we met W's new GI doctor in STL. By this time, W had learned to sit up and his spit up amount decreased, so we discontinued his acid reflux medication. We also started services in Missouri for speech therapy (feeding), nutritional consultation, and occupational therapy.


In October 2011 (10 months), we received the lab results that confirmed that W has Shwachman Diamond Syndrome. We also met his new Hematologist in STL and she answered the many questions we had about SDS. She also ordered a bone marrow biopsy in December 2011. She explained that he would have to undergo a BMB yearly to detect any changes that could lead to leukemia.


In November 2011, (11 months), W had an ear infection.


In December 2011 (12 months), Wade had his 1st birthday!!! He also had another ear infection. Also, his GI doctor ordered lab work to detect pancreatic insufficiency, since that is hallmark of SDS patients. W also survived his first bone marrow biopsy!

In January 2012 (13 months), lots of information came in. He had his third ear infection in a row and was referred to an ENT specialist (we see her next month). W's bone marrow biopsy reported no abnormal cells! However, his ANC numbers are so low that his Hematologist recommended Neupogen shots 3x/week (which he begins in February). Also, his pancreatic tests came back and indicated that he does have pancreatic insufficiency and needs enzyme replacement therapy. We started enzymes and ADEK vitamins on January 17. Also, on January 19, his occupational therapist noted that he needs more services, especially physical therapy due to him locking his hips all the way out and in for stability.

13 months old!