"There's something wrong with my baby boy!"
- Daniel's first year -
- Daniel's first year -
Dan and I were driving in the truck to his Challenger League Baseball Jamboree (he loves his Blue Jays team). I got lost. Not unusual I must confess. I got cranky, edgy, snappy. I hissed at Dan when he started whining, "Quiet, I'm trying to concentrate!" After I stopped and got directions, my adrenaline subsided and I felt badly. I said, "Dan, I'm sorry if I was cranky, was mommy cranky?" His answer was an emphatic "Uh huh!" No holding back. I laughed.
How can I explain to someone what a moment like that means to me? My son is 13 now. And we communicate. And we annoy each other and laugh together and care for each other and love each other. Everyday. But there was a time, when I saw no hope of this type of relationship with Daniel.
My dark haired, doe eyed babe was so beautiful. My beautiful boy. But, in the core of my soul, I knew there was something amiss with my son when he was 6 weeks old. He didn't eat. It's a hallmark of Potocki-Lupski Syndrome, 'failure to thrive'. My breasts ached to feed him, and he would not nurse. He would not take a bottle. He would eat no more than 2 ounces at a time. I think there is something instinctual, something primitive about a mother's desire to feed her baby. There is this amazing satisfaction, not just the oxytocin release, but the knowing that your baby is content and at peace. Full and asleep. Little traces of milk in the corner of their mouth. With Daniel, from the earliest moments, instead of that blissful time of serenity, there was this sense of panic. Deep in my heart I worried, 'Will this baby survive?' It wasn't conscious. It was in my heartbeat every time I tried to feed him.
There was something else. When I held him, the hair on my arms stood up as if he was filled with static. I used to say that he felt electric. I had so looked forward to rocking my newborn, to hearing his sleep breathing as I put off laying him in his bassinet. Those are some of my treasured memories of my daughter's infancy. But, Daniel was electric. Charged. I couldn't figure it out....
Natalie was an energetic, joyful 7 year old when Dan was born. I have a horrible memory. Dan must have been about 2 months old and my beloved girl bounded into the room when I was trying to feed him. She interrupted his feeding, which in my heart meant he would starve for another 4 to 6 hours. I lost my mind and I screamed at her. I don't remember my words, just my panic. Something was terribly wrong.
Daniel threw up everyday of his life for the first 18 months. What little he ate he threw up. No medication was offered to us to help, just wedges for the crib mattress to keep him propped up. He napped in his swing. I always feared laying him flat. What if he choked?
My fear of his choking was not unwarranted. He seemed to choke and gag very easily. I hoped solid foods would improve the situation. Then, one day he choked on his rice cereal. As I was feeding him he began to choke and couldn't clear his airway, couldn't cough. His eyes bulged, but he was silent. His face turned a grotesque shade of purple. As I was about to begin the Heimlich maneuver he inhaled a gulp of air and his color returned. From that point on, anytime a spoon approached his mouth he would shiver so slightly with fear, then gag and throw up just at the sight of the spoon. He was about 7 months old. Despite all of his challenges he learned that lesson very quickly.....spoons are very scary.
Dan didn't sleep. Another hallmark of PTLS is sleep apnea. His typical pattern from infancy on is that he'd fall asleep and wake up a few hours later. Then, he'd stay up all night, no matter what I tried. Dan might finally collapse from exhaustion at around 4am or so. (And at 3 years old when he was expected to attend early intervention programs, waking him up in the morning was all but impossible).
I knew there was something wrong. I knew it, I knew it, I knew it. For a long time no one listened. No one. He looked fine. I spent entire days and nights trying to get formula down him, ounces at a time. This kept him on the growth charts, barely, 90% for height, 10% for weight. I am 5' 10 1/2" tall, so doctor's thought he just took after me. I knew better. I knew in my bones, in my marrow, I knew.... I was in a constant state of quiet panic.....there was something wrong with my baby.
I remember at 6 months old taking him to a pediatrician. In my never ending search to try and figure this child out, I thought a specialist might have some insight my family doctor didn't. I can still see him smiling at Dan and holding him up in the air playfully and reassuring me that he was fine. I was not even a little reassured. He was hitting his developmental milestones on target. He looked fine. But I knew.
Then, things took a terrible turn. Daniel had a vaccine injury. I'm sure of it. No one can talk me out of it. I know he was born with PTLS, but what happened next turned a strong wind into a hurricane. At six months old my son didn't eat, didn't sleep, but he did smile. Though his interactions seemed stiff, he did interact. He looked at me. I remember that. After his six month vaccinations he became very ill and we ended up in the ER on an IV to hydrate him. He was never the same. He stopped smiling. Still, everyone thought he was fine. One doctor told me I was not affectionate enough with him and this explained his change. Really.
He crawled. He walked at 11 months old. But he was jerky. His movements seemed tense. He didn't explore. He didn't babble. He didn't interact. He didn't eat. He didn't sleep. And though no one was paying attention, I now know that his fine motor skills were very delayed. No imitation. No patty cake. No peek-a-boo. He didn't bring his hands to mid-line ever. And I certainly never had to worry about him putting anything in his mouth. But, he was adorable. Still, no one suspected except me.
When Daniel was one year old we were visiting a neighbor. Dan had been working hard to open a cupboard door, it took great effort for him. When he finally did it we clapped and cheered for him. Daniel didn't look up. He seemed deaf. My neighbor inadvertently said, "That's odd." I was done. I called my doctor in hysterics, "There's something wrong with my baby boy!" Dr. Schneeweiss agreed to see us. Thank God, he gave Dan an objective screening. Ron Schneeweiss had delivered my son and was a devoted family doctor. The next moments with him are burned in my memory. After just about 4 or 5 questions, Ron put his paper down and with a graveness I had never seen in him before, looked me in the eye, "I'm referring him to the University of Washington's Center for Human Development and Disability". Finally! My heart sank, but I was so relieved at the same time. I wasn't alone, my doctor knew now too. - And, thus our journey began.
Please feel free to contact me at any time, marianhonda@msn.com.
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October 4, 2010
Dan came home from school today and was channel surfing. He landed on the Maury Povich show. It was a people screamin', who's the baby daddy?, DNA testing, kinda show:
"Dan, change that, it's awful, people are being too mean."
"No."
"Dan! People are being mean to each other and it's hurting my heart. Please change it!"
"OK" (Hands me the remote), "I'll go watch it in the bedroom."
"Daniel! That show cannot be on in this house!"
-silence-
"Dan! Change it or the TV goes off!!!!!!!!!"
-reluctant compliance-
10 minutes later...... in a whisper, "Can I pwease watch channel 13?"
I love that conversation with Daniel for about a million reasons. I think because of his special needs and how hard he has worked to come as far as he has, I appreciate and value things differently than typical moms. When I reflect back on our journey, I guess it's not hard to understand why.
After Dan's first year we began the journey of diagnosis. It's a journey that I'm hoping most parents in our PTLS family will avoid. But, before the genius of Dr. Potocki and Dr. Lupski and their findings there was no PTLS. There was just this kid who had stuff not working right, but didn't really fit any diagnostic criteria out there. I have a great deal of ambivalence about diagnosis....but the thing is, I always felt that if we could figure out what was wrong with Daniel, we could figure out how to fix it. And fixing it was what I intended to do.
At a year old Daniel was referred to the University of Washington's Center for Human Development and Disability (CHDD). But, the waiting list was 9 months long, and there was no way I was waiting 9 months for anything. I got an appointment at Seattle Children's Hospital with a Pediatric Neurologist I will not name (because I'm occasionally polite). Dan was about a year and a half now. I vividly remember a small stark white exam room, an unusual room at Children's. It felt sterile. The doctor walked in and sat across from my son and me. I don't remember his questions. I also don't remember any examination of my son. I do remember Dan trying in his way to interact and connect with that man. He was sitting on the exam table kicking up his skinny little legs, being coy and trying his best to flirt with this doctor and get his attention. It was subtle, but I knew my son and I knew what he was doing. - I think the kindest thing I can say about that 'expert' was that he was glib, "Well, he has autism, or pervasive developmental delay". - In 10 minutes the flat pronouncement was made and he left us in that room, me, Dan and God, to wrestle with the news that my son is autistic.
This was some 13 years ago and the public conversation about autism was still pretty much a whisper. My image of autism was still antiquated and involved profoundly impaired people in institutions. Needless to say I was devastated. The blessing was the journey to follow. The autism diagnosis brought me in contact with a group of parents who were fierce. From Seattle's 'Families for Early Autism Training' (FEAT of Washington), I learned how to fight for my son. I learned a lot. I learned about therapies, law, school districts, insurance companies.....and I joined the war on the front lines. So, I am to this day grateful to that cold, distant doctor who diagnosed my baby in such an aloof fashion.
I'll talk about therapies in a different blog entry. The diagnosis journey was only beginning for Daniel that day. It would last until we got a call from Baylor trying to explain Potocki-Lupski Syndrome to me. By then Dan was 10.
When we finally ended up at the CHDD, we were prepared for bad news. We'd already survived it. The testing there was comprehensive, caring and very informative. It was an exhausting, but very worthwhile experience. A child psychologist, speech therapist, audiologist, physical therapist and developmental pediatrician tested and examined Dan over the course of 2 days. This time the diagnosis was a little muddier. Essentially they thought he had Pervasive Developmental Delay. I interpreted this as 'kinda a little autistic sort of'.
We went back to the CHDD when Dan was 3. Diagnosis was even muddier then. By now Dan had had year of ABA therapy (I'll talk about that next time), so he was a very different kid at this point. He had speech, but I was his interpreter. His apraxia was so profound that he was unintelligible. Every area of language was severely impaired. He still had severe problems with both eating and sleeping, although his growth was still in normal ranges. It was obvious now that although he had hit developmental milestones, both his fine motor and gross motor skills were delayed. He had social skills, but they were odd. But, one thing that stands out about that visit was our time spent with the developmental psychologist. When language was removed from the equation, Dan did ok. Visually this kid could process his world. The psychologist looked at me and seemed almost confused by him, which is pretty much how I always felt. "He will always be underestimated", those were her words. I knew she was right.
At that visit it was decided to do genetic testing to rule out fragile X, the most common genetic form of mental retardation. When we returned we were told that Dan had a duplication on the short arm of chromosome 17 at 11.2. They might as well have been speaking martian to me, this news meant nothing to me. I had no frame of reference for it. I noticed the social worker was giving me a sad look, so I thought to ask, "Is this why Dan is delayed?" The answer was also fairly muddy....'Probably."
Daniel was still in 'no man's land' as far as his diagnosis went. I found that I had no real way to talk about Dan. He was kind of autistic, but then put him with a group of autistic kids and he was so not autistic. Yes, he was developmentally delayed, but he learned, and he learned well, as long as language wasn't involved. Nothing fit.
Next, he started with strange athetoid movements typical of kids with cerebral palsy. Took him to a specialist. New diagnosis: right sided hemiparesis.
Then, the staring. He would have the weird movements and then stare. New diagnosis: complex-partial seizures.
Also, Daniel developed severe tics around the age of 3. It started with an eye twitch and progressed to the entire left side of his body. It was awful. Diagnosis: movement disorder/possible tourettes syndrome.
As if all that wasn't enough, Daniel also had severe 'sensory integration disorder'. This disorder made taking him out in public a huge challenge during those early years. At a playground, if he got overwhelmed (which was typical), he would cover his ears and shriek in decibels that would nearly burst peoples' eardrums. Grocery stores, the mall, any new situation could over stimulate him.
Are we having fun yet? (Where's my sarcasm font when I need it!)
Medications were tried trial and error style. I hated medicating my baby. But, when you are told seizures could cause brain damage, there doesn't seem to be any choice. Nobody mentioned the devastating side effects of anti seizure medication. We lost at least 6 months of development using them. He started wetting himself, lost language, became a zombie. I lost my mind. I took him off those meds and never looked back. The frustrating part of that story is that when the meds were prescribed there was not even a conclusive EEG proving he was having seizures.
The blessing was the medication given for his tics. It is guanfacine, which he still takes. It is also used for ADHD, which although Dan was never diagnosed with this, I'm convinced he has ADHD. This medication is benign, very mild side effects and controls very effectively his tics, his athetoid movements (no he doesn't have cerebral palsy) and helps with focus and attention. There was not a pediatric neurologist in Seattle who could explain the tics, movements, staring...and I took him to 4.
Nobody could diagnose the cause of his feeding and reflux problems. No one had medication to offer that might help him. The only person able to support us with this huge daily challenge was an occupational therapist who I will never forget. Her name is Dr. Gay Loyd Pinder. When it came to working with Dan, there were a few professionals who were like masters and could reach him and connect with him. I would watch and learn. She was one of them. She didn't blame me, she told me, "Keep doing what you are doing." So I did. I would cut off of the top of a baby bottle so that the opening was wider and create a concoction of protein powder, supplements, formula......and he drank it. I felt better. At least he was getting some nutrition of some kind. It's all I knew to do.
I will never, ever forget the first time I read the Potocki-Lupski web site after getting the call that Dan's genetic abnormality now had a name. I read the description of that syndrome. It was my son to a tee. My eyes welled with tears. There it was. It explained everything. And, it was ok with me. It was ok.
~From the PTLS website:
Duplication of chromosome 17p11.2 – Potocki-Lupski syndrome (PTLS) (OMIM #610883) is a newly recognized genetic condition with only a few dozen cases reported in the medical literature. Patients who have this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy, and also present with delayed development of motor and verbal milestones. Many individuals who have PTLS have difficulty with articulation and language processing. In addition, patients may have behavioral characteristics similar to those seen in persons with autism or autism-spectrum disorders. Individuals with PTLS may have heart defects and sleep apnea. ~
