Mothers Day 2018.
33 years ago I was about to give birth to my first child, who ended up being born on Memorial Day, 1985. I originally went into labor two days earlier, but a trip to the hospital with irregular contractions resulted in returning home “to wait” Two days later, still no regular contractions, almost two weeks overdue and exhausted, it was decided to induce. I thought at that time parenthood would be the easiest job I ever had. First mistaken notion.
“Warren” came out after a difficult delivery, very depressed. His first Apgar was a 6, but his second a 9. They rushed him off to the nursery and had the neonatologist follow his care. He was “floppy”, had a huge startle reflex, was very sensitive to touch, would nurse for a few minutes and then fall asleep, but after 3 days they released him as an “essentially healthy infant”. I thought everything was fine. Second mistaken notion.
He was a challenging baby. He never, ever slept more than two hours at a time. Never nursed well, we had to supplement after a week when he continued to lose weight after coming home. He had terrible reflux, would spit up through his nose; he was slow with motor development. The startle reflex continued. If I walked from a dark room to a lit one with him, his whole body reacted. Still, he was sweet natured (still is) and was gaining weight and at 3 months the doctor said he was doing great.
Then he had his first DPT shot. That night his fever hit 105. He laid on my chest for three days and hardly moved. At my pediatrician’s insistence he never received any part of the “pertussis” vaccine again (actually none of my children did). I don’t think the vaccine caused any of his disabilities – but maybe opened a door to let what was lurking there in a bit sooner, and more strongly. This is just my opinion, and most professionals will tell me I’m crazy, but they weren’t there.
When Warren wasn’t walking by 18 months, and barely crawling, we started our first round of visits to Children’s Hospitals. There I was told – and I swear to God this is the truth – “You definitely want to go through genetics because you wouldn’t want to produce another one like this” and at the next visit – “don’t fret, I have parents of gifted and talented children who don’t know how to raise them either”. Third mistaken notion – the experts know best.
We received the diagnosis of “developmental delay” – Fourth mistaken notion – that delay meant late, but just like an airplane it would get where it needs to go eventually. I did not know it was a euphemism for “we don’t know what is wrong with the child, but things don’t look good, and might never”.
Years go by – we run all the tests, nothing comes back with a reason for the “delay”. We end up with a diagnosis of autism at age three and the pronouncement by many experts that this would never happen again….and so my daughter was born. She was the complete opposite of her brother, walked at 9 months, had words at a year (Warren has never spoken one word to this day). All the doctors and friends assured me she would be fine. And so her two brothers followed. And then she started getting “weird” – perseverating on objects and actions, single words never turned into sentences. At age 4 she also joined the ranks of special education. Side bar here – Emily has been diagnosed with what is very clearly autism – and manifests some bipolar tendencies, but does not have KAT6A – which surprised the doctors. Her brothers are neurotypical and doing well.
Warren learned to walk, for awhile he was successful with limited sign language, but his fine motor skills have always been very poor. I was the only one who understood his signs and they were limited. After two years on baby food he started eating solid food, but to this day, refuses anything highly textured. His weight, even now, is a concern. At 5’8” he has never been heavier than 158, and now is 143 pounds.
Over the years there have been a number of medical problems – he developed aerophaghia – air swallowing. There is no treatment and it can be fatal. But thanks to some wonderful therapists and doctors we got this under control. His motor skills led to a diagnosis of mild CP. He never outgrew his strabismus. But he enjoyed school, became somewhat independent, but the combination of his disabilities meant he could never master his personal care skills independently. He still has toileting accidents occasionally, needs to be fed, dressed, bathed, but he does cooperate and assist with all of these, and he is ambulatory. On the surface, judging by his skills, Warren would seem to be very cognitively impaired. But there have been some things he has demonstrated that clearly indicates his understanding of things is far higher than appears.
And then at age 9 the seizures started. Nothing helped. They were called partial complex seizures and he did not convulse, but it was more than just the staring of absence seizures. Eventually, a brave neurologist tried a new medication that had just been approved in the US, but had been used in Britain for awhile – Lamictal. That, with Topomax, stopped the seizures for several years. But, they did come back, and this time as grand mal seizures. We have tried every combination of medications, and we went through periods of calm, only to have them come back in clusters. Last fall he had a Vagus Nerve Implant, which was a very difficult adjustment, but now seems to be helping. One seizure since January.
We raised all our children at home – under circumstances at times that were harder than anything you can imagine. My daughter’s autism manifested itself with aggression and violence at times, but with the help of incredible staff, and wrap around services, our family stayed in tact.
I had wanted Exome testing done since the first time I heard about it. I wanted to know why this happened to us, and was sure there would be a diagnosis that applied to both Warren and Emily. However, my insurance would not cover it and it was impossible for us to afford. I had applied for the Autism Speaks credit card and charged everything I could so that they would receive 5%. One day I received a phone call that they were sponsoring an Exome study at NIH (around the corner from me) and we would be able to get the Exome testing for free – was I interested? Of course I was. Sign us up! And then they said, if Emily and Warren could not give “informed consent” then they were not candidates.
Mistaken notion 5 – I thought we were all in this together. Bless my dear friend who works for a genetics company who was able to arrange for our family to have the sequencing done for what the insurance would cover. When the results showed that Warren had KAT6A, but Emily did not, it was a blow. Things were just getting rolling with KAT6A and Warren was, and I think still is, the oldest person diagnosed. Many became interested and asked to use him in studies and publications and we readily agreed. Here was one answer as to why this happened, and it wasn’t hereditary, and it wasn’t caused by something I did. All good news.
Over the years I can’t begin to tell you the things my husband and I tried to “find the cure” – some ridiculous, most expensive, all bringing marginal change. Warren to this day is a lovely young man who loves music, movies and pretty girls, but he requires a lot of help. I was warned that other KAT6A families might seek me out to know what the future of their young children would hold. I know what it is like to think that if you keep trying, one day you will find the answer to what will help your child. I have been fearful that if I revealed the extent of Warren’s limitations it would not be welcome information to these families. I have purposely stayed in the background.
But that doesn’t mean I’ve turned my back on things. I confounded a nationwide organization called KEEN (Kids Enjoy Exercise Now) that provides free recreational opportunities to children with severe disabilities. I have served on Boards and Commissions serving the disability community at my county and state level for 20 years. I initiated and chair a Developmental Disability Advisory Committee. My work at this point is devoted to improving the quality of life for the developmentally disabled.
Three years ago Warren and his sister moved into residential settings. They live in side-by-side townhouses ten minutes from our house. They have roommates and round the clock staff. They work and play in their community and we see them every weekend. It is a pretty good life for them, and at age 63 and 71, a blessing for my husband and me to know they will be cared for when we are gone.
But three years ago Warren had a bad fall, broke his femur, and after two months of recovery, had a seizure and another fracture. Now it seems this might be related to the KAT6A – but it also could be the epilepsy drugs he has been on so long. Who knows, but once again, we are trying to see if there is something else we need to do to help him. Thus, this blog, and emails to Dr. Kelley.
When I was asked to write this, I asked what should I write about – I was told tell us about birth on. I know I have given you more than you ever wanted to know, but once I started, I couldn’t stop. I wish you all the happiest of Mother’s Days. Your children are very lucky to have you.
