My Journey with Jude and 15q24 Microdeletion Syndrome
June 10, 2013
On December 23, 2012 I gave birth to Jude Thomas. Once we got home, Jude would sleep so much I could not get him to eat. I was so relieved the morning we headed to the pediatrician’s office for the first visit. Sure enough he was not eating enough and dropped to 5 pounds 11 ounces. It took two weeks of lactation consultants, support groups, doctor visits and no weight gain to realize he was not going to breastfeed. In his best interest, I started giving him a bottle and pumping eight times a day. He finally reached his birth weight at a month.
Everything was going well with his weight, but every time I watched my sweet baby sleep I became concerned by some of the features on his face. In the hospital, they had mentioned he had a single transverse palmer crease on both his hands. At the time, they did not think anything of it. Considering all of these concerns, I started searching on the internet for some answers. I could not find anything that fit Jude, so I decided to just keeping observing him.
On March 10th, Jude had a fever and became sick with bronchitis. Due to the fact that he was less than three months, we had to have a chest x-ray and blood drawn. It was awful watching him in so much pain, and I was not able to do anything. Later that day, we were sent home with an antibiotic. After a week, he was back to eating and being as sweet as can be.
Later that month, I noticed Jude was not holding his head up. In fact, his head would not even bob. Every time I did a sit-up with him, his head fell forward or back. At a follow up appointment, I brought it to the attention of my pediatrician. She agreed and diagnosed him with hypotonia (low muscle tone), and he went through the evaluation process so he could start therapy. Jude spent a lot of time doing tummy time and other therapy. He always works so hard and even when he gets tired he keeps trying. It is amazing to see how much effort a baby puts forth.
Along with therapy, we were sent to neurology because hypotonia is a condition and, therefore, we had to find the cause.
On April 26, we met with neurology. All the features I questioned turned out to be a true concern. The neurologist informed us that Jude had dysmorphic features and when coupled with hypotonia that usually means a chromosomal disorder. Blood work was ordered and we were told we would have to wait ten days before we would hear the results. It felt like someone punched me in the stomach. I knew something was wrong and I could not bear the thought of waiting ten days to know what his life might entail.
That weekend, Jude became sick again. He seemed to improve but after a few days his cough became so bad he was not able to sleep. I took him to the pediatrician’s office. The nurse checked his oxygen level and it was in the 80s and dropping. What seemed like 10 seconds, doctors and nurses rushed in to give him oxygen treatments, ambulance was called, and I sat there holding him in shock. We rode in an ambulance to the hospital. He was admitted to the hospital for pneumonia, and we stayed there five days. The days were filled with doctors, specialist, nurses and watching Jude hooked up to machines. Many days I sat there wondering why all this was going on, but like usual, Jude would see me and smile. He ALWAYS smiles. He was so brave and happy even when he was in pain.
Four days after leaving the hospital, Jude was ordered to have a swallow study which found that he was aspirating and we were ordered to thicken his formula.
On May 9th, we met with the neurologist who informed us that Jude had 15q24 microdeletion syndrome. Of course, I had no idea what that meant and we had two weeks till we met with genetics, so I began researching. I found that there are only 33 reported cases and not every case has the same concerns/delays. The major concerns are cardiac, breathing difficulties, seizures, intellectual disability, vision, hearing, gross/fine motor delays and speech delays. This was more than overwhelming. We had 10 appointments in the next month, including Jude’s appointments for his helmet. This suddenly became my full-time job, and the Cleveland Clinic started to look like home.
As of today, May 24th, Jude has had his heart examined and everything looks great! He will have more testing to look at his breathing, etc. Unfortunately, most of the concerns and delays will not show up until later, so it is a waiting game.
When I surprised my husband with news that we were pregnant or when I held Jude in my arms the day he was born… I never imagined that we would be dealing with a genetic disorder. But who would ever imagine that? It is really hard not to think about what could be and to not get upset. Every time I start to feel that way, Jude smiles at me and I remember what a precious and perfect gift I have been given.
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