Our first son was born in June of 2007. During my pregnancy I gained a LOT of weight. Towards the end of the pregnancy the baby moved less and less. Finally upon my request they induced labor. As we waited the monitors showed that our baby was under stress and the doctor told me that an emergency c-section would have to be preformed. As Noah came into this world the doctor exclaimed "That is a REALLY BIG head" followed by "And a BIG body to match." This was my first introduction to our little giant.
Noah was 11 pound 1 ounce and 23 inches long. He was so large the nurses had to go to the pediatric floor to find clothes that would fit this new baby. He was not like other babies. He cried so loud that he woke the other babies in the nursery. I tried to comfort him but he cried and cried. Finally I unbundled him and placed him on the bed next to me. He stretched out with his arms above his head and went to sleep. Though I tried to nurse him he had a difficult time latching and I was forced to give him supplements.
I felt like he was a difficult child. He had lots of tummy aches, ear infections, and sleep issues. When he started to miss the milestones I assumed it was because of his size (delaying crawling, standing, walking) and/or the repeated ear infections (delaying speech and communication). At first his pediatrician didn't seem concerned.
By six months of age the pediatrician started to express concerns about Noah's head size. He wanted to test him for hydrocephalus, a condition in which excess fluid collects in the brain. Noah had his first CAT Scan on March 17, 2008. They said the results were normal, but this didn't appease the pediatrician. He requested more tests. Noah would have to go through another CAT Scan, an MRI, and a visit to a neurologist before his pediatrician was satisfied. All tests showed that everything was fine. At this point his pediatrician told me that Noah's developmental delays might have no medical explanation.
None of the various specialists gave us any of advice on what to do about his delays. Luckily the audiologist who conducted Noah's hearing test told me about the Early Intervention Program. We enrolled in the program and it was a great experience. He really enjoyed the playgroups and the one on one attention he received from his therapists/workers. I think one of the most helpful parts of the Early Intervention is meeting other people who are dealing with similar challenges and learning about their experiences. From these parents I learned about more services available.
At this point I was still far away from a diagnosis. Even a Developmental Pediatrician couldn't give us any ideas. It didn't occur to me that his large body and head were a symptoms. I thought they were simply cosmetic... and it seemed the various specialists agreed. It wasn't until my brother told me about a condition called Sotos Syndrome that I started to research genetic testing.
As Noah approached his 3rd birthday I was able to schedule an appointment with a geneticist who tested him for Sotos, PTEN and Fragile X. When the results came back we were told that Noah was a very special case. Though many PTEN mutations have been diagnosed only a handful of PTEN Deletions have ever been diagnosed. They told us that there was no information available, and no way of knowing what kind of life he would have.
I really wished that someone, somewhere could give me some information on how PTEN Deletion affected their lives. I wasn't able to find anyone with this specific diagnosis. Hopefully, this blog will reach the next family to face this rare diagnosis. I hope our sons stories comfort some of your fears and uncertainties.
Noah is an exceptional child. He has a spectacular memory, and often recites books and movies from his memory. He says things that he thinks are appropriate instead of what pops into his head. He says things like "Oh Mommy, I'm so happy to see you." He is kind, loving, and very brave. He never cries for attention when gets hurt. He is always quick to say "I'm okay" when he falls down. When he gets sick he is so nice and always thanks his mom for taking care of him. His smile lights up the room. He is adored by adults because he makes them feel like they are his favorite person in the world.
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