Come What May & Games We Play

Nathaniel's Story

Five months into marriage, Doug and I discovered that we were pregnant. This news was greeted with so much happiness and hope. An estimated due date was calculated to be the 31st of March, just two days after my birthday. What a wonderful present for me!

I had a healthy pregnancy and went into labor a few days before the estimated due date. Nathaniel was a small baby at 6 pounds 6 ounces and 19 inches long. He had a soft cry and slept most of the time. At first, I had trouble feeding him. He could not latch on long enough to feed properly and could not take more than half an ounce of formula. Tests were ran and Nathaniel was transferred to NICU for jaundice. More tests revealed that he also had low platelet count, low blood sugar, and a heart murmur. A very eventful beginning indeed!

After nine excruciating days in NICU, Nathaniel pulled through and was finally discharged. We enjoyed a blissful day and a half at home. After a pediatrician check-up, a low platelet count led to another hospital stay for Nathaniel. Discussions of blood transfusion took place but Nathaniel responded to the second round of IVIg treatment so after a short stay Nathaniel got to go home!

For the first few months, Nathaniel felt like a little teddy bear, soft and cuddly. Little did we know that he has hypotonia or low muscle tone. A condition that would make it difficult for Nathaniel to meet early developmental milestones. At six month of age, Nathaniel still hadn't roll over or grasp objects. With a diagnosis of global developmental delay, Nathaniel saw more specialists to determine the underlying cause. We were hopeful and not at all prepared for what about to come. At 11 month of age, we learned that Nathaniel has a complex chromosomal abnormality. Nathaniel has deletions of genetic material on chromosome 5 and chromosome 12. In addition, there is also a duplication on chromosome 12. All of which were de novo events which mean they were not inherited from us but happened by unfortunate random occurrences. What does all that mean? Our geneticists provided us with some insights on a rare syndrome that Nathaniel has: Cri Du Chat. It was the most devastating news for us. Among other things, we were told that Nathaniel will need family assistance for the rest of his life and he may or may not develop speech due to the substantially large deletion on chromosome 5. However, the deletion and duplication on chromosome 12 seem to alter and modify Nathaniel's Cri Du Chat syndrome. But at the moment we don't know if this modification will help or harm in the future. Nathaniel is now 14 months old. He is unremarkable compare to his peers but not any less lovable. He continues to fail so many assessments that it's easier to list the things he can do than the things he cannot. Nathaniel cannot do many things that his peers can, but for all the things that he can do, we are happy with those small triumphs.

Click here to learn more about Cri du Chat Syndrome