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!