Fourteen years ago November 24th, I gave birth to Gabriel via emergency C-section following nearly 48 hours of labor. It wasn't a miserable screaming 48 hours. The first 36 hours were spent at home. The next 12 hours were at the hospital resting comfortably, including the final 6 hours being tame enough to allow me to sleep, save for the occasional interruption by nurses checking my progress.
It just so happened that the day of Gabe's birth was also Thanksgiving. When the nurses changed shifts at 7am, my new nurse was concerned that Gabe's heart rate was decelerating frequently, so she paged my doctor who immediately ordered an ultrasound and called for the Cesarean. When Gabe was born at 9am that day, the doctor discovered the reason for the heart decel - the cord was wrapped very tightly around Gabe's neck several times. Dr. T told us that Gabe would have never survived natural childbirth. I spent that Thanksgiving under the influence of narcotics instead of tryptophan, being ever so grateful for a wise physician.
Following his birth, he seemed perfectly healthy. Other than frequent projectile vomiting after eating, it didn't appear that he was anything other than a typical infant boy. As time progressed, though, we began to notice that he might not be reaching his developmental milestones as quickly as our first two boys had reached theirs. Gabe was not feeding himself. He was not sitting up alone. He was not standing alone. He was not holding toys well. He was not talking at all. He was content to lay on the floor or be held. And he was always happy. Always smiling and laughing. A very happy little boy. By the time Gabe was nine or ten months old, it was obvious that he wasn't progressing at the rate he should have been, so our family doctor referred him to a child neurologist.
We had absolutely no clue just how much maturity we would experience during the next few years!
We visited doctors in Toledo, Ann Arbor and Cleveland. We scheduled appointments for therapies and early intervention. We became proficient at rattling off medical terms and diagnostic tests. We formed friendships with hospital personnel while they explained Durable Medical Equipment and insurance policies.
While the demands of Gabe's schedule were sometimes stressful, we felt like we were in pretty good control of our situation. That changed when he was two and a half. Two weeks before I gave birth to Savannah, Gabe began having seizures. These were no minor little things - it meant ambulance rides, calls from our doctors to bigger hospitals discussing possibilities of Life Flight, massive amounts of anti-convulsants being pumped into his uncontrollable body, and panic. The first night in the hospital, his seizures were so bad and his heart was working so hard that the doctor called for the crash cart to be brought into the room. We were scared to death that we would lose Gabe.
That first episode of seizure activity finally resolved, and after several days, Gabe was released from the hospital with a new diagnosis - Epilepsy. We still had no idea WHY he had epilepsy. It would be another 9 months before there was even a small clue about what was going on with him.
Over the next several months, Gabe became a regular at our local hospital. Every pediatric and ER nurse knew Gabe well. They knew what his favorite blankie looked like. They knew what he liked to eat. Every time he'd catch a cold, we'd worry that his fever would send him back to the hospital with seizures. Often, it did. We learned all kinds of interesting facts about anti-convulsant therapy. We religiously stuck to his medicine schedule. We read books and researched on the Internet. We suggested different drug possibilities to the doctors, and presented questions about symptoms of various diseases he could have. We knew which lab technicians were skilled. We spent a lot of time looking at hospital linen and sleeping in uncomfortable recliners.
When Gabe was three and a half, his Cleveland doctors decided to try to videotape him for 48 hours with EEG monitors on his head, so they could get a clearer picture of what type of seizures he was having. They said that a possible diet change might help control his seizures. So off we went to the Clinic, to try and keep Gabe occupied for two straight days of wires all over his body. As a precaution, they said, there was some blood work they wanted to perform to "rule out" any metabolic disorders that could worsen if they tried this diet routine we'd been discussing.
A few days after being discharged, (with no noticeable seizure activity during the stay, I should point out!) the phone rang with the news that doing this precautionary lab work proved to be very helpful, as it looked like Gabe might actually HAVE a metabolic disorder! Of course these results meant the diet changes we had been pondering would have to be nixed, but with other diet changes, IF these results were correct, Gabe might actually be able to have a normal life. We had to go back to the Clinic for further testing.
While the tests showed the doctors many different metabolic disorders that Gabe DIDN'T have, they could not pinpoint exactly which one he DID have. They decided to have us start him on the modified diet anyway, and see how it went. After consulting with the nutritionist, we began feeding Gabe a strict regimen of fruits, vegetables and very limited protein, with absolutely no meats.
Within 5 days, his seizures STOPPED completely! For several months, he was seizure free. We began to think that maybe he'd be able to stop his medications. We had tried many different combinations of drugs, and nothing had controlled the seizures nearly as good as the diet was doing.
Over the next couple of years, Gabe made lots of progress in his gross motor skills. We had to keep him on medication, because when he would be sick for any reason, he would have breakthrough seizures. By the time he was six, we had found the right medications in the right combinations that worked quite well.
Shortly after he turned six, we were visiting the Clinic for a regular followup. His neurologist happened to have hired a new nurse. Upon seeing Gabe for the first time, her reaction was to say "Has he ever been tested for Angelman Syndrome?"
Apparently not - we'd never heard of it. We consented to having more blood drawn, and went home full of questions. We knew it would be a few weeks before we heard of the results, so we had plenty of time to do our own research.
After reading just the basics of what Angelman Syndrome is, we knew what the phone call was going to tell us. We were not surprised in the least when the nurse said "The tests came back positive. Gabe does have Angelman Syndrome."
As Gabe's mom, this changed my outlook. When I thought Gabe just had a metabolic disorder, my hope was that he would "catch up" and "be normal". He could someday play ball with his brothers. He would ride a bike. He would drive a car. He would get married and have children.
Facing the information I had about what Angelman Syndrome involves, I knew the likelihood of most of those things ever happening is pretty slim. Naturally, the first thing I wondered was "will this affect his lifespan"? I was relieved to see that he would probably live a typical lifespan, and that his condition wouldn't deteriorate. But beyond that, what?
That "what" is always changing. I have accepted that my son will always need care and supervision. I have learned to ask for help. I have admitted that I just can't do everything for him. I have agreed to let others offer their expertise. I have allowed others to learn about him. I have realized that other people can love my son unconditionally. I have fought for him to be educated well. I have witnessed my other children show compassion and protectiveness. I have discovered friendships in hidden places because my son is an Angel.
I can not know what Gabe's future holds. I can not predict what might happen. I can not control the uncontrollable. I can not list what Gabe will someday accomplish.
I do know that Gabe is smart. I do know that he's creative. I do know that he's loved. I do know that he knows more than we think he knows...