Noah was born on April 17, 2008, at the hospital in Newton, MA. He was two weeks earlier than expected. He weighed 6lbs, 7 oz and 19.75 inches long and had a normal delivery.
He had some developmental delays, but his pediatrician wasn’t too much concerned and assured us that he will be fine. A week before his 6-month appointment, Noah started to have seizures. We took him to the pediatrician and he sent us directly to the children’s Hospital, Boston. They identified it as infantile spasm and put him on ACTH injection for 28 days. But, he continued to have seizures and the children’s hospital couldn’t diagnose him properly, though they have done extensive blood work and other related tests. At this point, his neurologist put him on Topamax. Noah didn’t have seizures for a while, but his doctors couldn’t figure out the actual cause of his symptoms.
In the meantime, we found a wonderful neurologist, a doctor at the Children’s hospital in Rhode Island. Even on the first visit, she suspected about Noah having Menkes disease and it proved right. There were many obvious symptoms like coarse hair, low body temperature, bladder diverticula, and low muscle tone and subdural hematoma when he was born. All these symptoms were overlooked by other doctors.
We tried copper chloride injections as it was the only available medication for this disease. We had to stop the injections after a month as not even slightest improvement was visible. Also, the injections were very painful to his small body and seizures became quite frequent.
Noah had severe Urinary track and some respiratory infections. So many medications administered on daily basis to treat his symptoms, yet his condition deteriorated. At this point, after talking with the PACT team at a children’s hospital in Boston, we decided to keep him comfortable with no more hospitalizations. The PACT team helped us tremendously to cope with emotional and mental trauma we had to undergo. Noah had continuous UTI toward the end and foley catheter was the only option. It was real challenge o keep him comfortable with all the complications he had. With the help of PACT team and couple of wonderful nurses we kept him comfortable as anyone could imagine.
Noah departed on April, 15, 2010, two days before his second birth day at home to a world where there is no sufferings and pain. His mortal body is buried in cemetery close to our home. He was loved by everyone in his short period of life here. We are convinced that he is enjoying his heavenly life with angels in his new home, though it breaks our heart when his older brother asks us “when will Noah return from heaven so we can see him again?”
Santhosh & Sumy, parents of Noah
Posted: June 2011