Writing a personal story, read by others, tells our community that no one walks alone with a CCDS diagnosis.
To share your personal CCDS story, submit entries to email@example.com.
-Submitted by Melissa Parker, In Loving Honor of her Son, Will Parker.
“There have been angels in my life….” This was written to me on a thank you note by the wife of a friend who passed away suddenly. For some reason, that quote always stuck with me. It meant even more to me when Will was little and his babysitter took me aside one day to tell me “something wasn’t right”. That was angel number 2. She was 73 at the time and had kept practically every child in our hometown. Everyone knew her and everyone trusted her. I was no exception. We trotted straight to the doctor, then to another doctor, then to another. Cerebral Palsy was the diagnosis. “Put him in physical therapy, occupational therapy and speech therapy,” the doctor said. Have a nice life Parker family. He didn’t say it, but I felt it. He was NOT angel number 3, and Will did NOT have CP. We switched doctors and over the next few years both she and I decided he had Will Parker Syndrome. Why not name it after him? She had no idea what was wrong. She became angel number 3.
Will Parker Syndrome was adequate for a while. We just dealt with the lack of speech, the way behind motor skills, the tantrums and the reflux – which almost changed his diagnosis to Will Parker Demonic Syndrome. How could that much come out of one little body?! Then a friend of mine suggested we investigate the possibility that he had some type of mitochondrial disorder. Was this out of the blue? No. Her child died from MCAD (Medium chain acyl CoA dehydrogenase deficiency) and her fight to have this condition become part of the newborn screening required in Mississippi became Ben’s Law. Angel number 4.
That conversation took us on a journey that brought us to Mayo Clinic and Dr. Jerry Vockley. His team tested, and scanned, and interviewed, and tested again, and measured and well, you get the picture. Things were starting to fall into place. By the end of the visit and subsequent visits after that, we determined that Will probably had a mitochondrial disorder, but they could not definitively tell us which one. So our diagnosis became Will Parker Probably Metabolic Disorder Syndrome, this was much longer and more impressive to the medical community. Mayo Clinic became angel number 5.
Will turned 12 and then came the seizures. Oh yaaay! This was a new manifestation of this illusive condition. There is nothing like a grand mal seizure at home to enlighten you on how you and your husband respond to an emergency. I think we forgot the number to 9-1-1 and as I recall, all my shouting from Will’s room prompted a sprint down the hall by my husband – a hall recently dust-mopped with pledge. He can’t skate so you can imagine how that turned out.
Angel number 3 (the doctor) suggested we visit with a new geneticist at the University of MS Medical Center, which is close to our home. “He is young, aggressive and excited,” she told us. “I think a new pair of eyes is what we need.” I guess by that time I was ready to ditch the Will Parker Probably Metabolic Disorder Syndrome. It was making me tired saying it, and I thought there is no way I can be more tired than right now.
Will was on enough medicine to open a pharmacy in my kitchen and his behavior was enough to put me in a nut house. It was like Mayo Clinic, the sequel, but we answered the geneticist’s questions and he simply said, “I think I know what is wrong with him.” Huh? Are you kidding me? He must have been in my medicine cabinet. I thought he was young and aggressive alright…and as nutty as me! He ordered some tests and after a week or so we had our answer – Creatine Transporter Deficiency Syndrome. He explained that he felt there were many more kids like Will whose parents are roaming around in the developmentally delayed, mental retardation, seizure disorder world. He wasn’t nuts after all. He was angel number 6.
So our journey continues with Will. He just turned 18. We decided a few years back that I was never going to open that pharmacy in my kitchen, so we took him off everything except seizure meds and a small dose of Clonidine. The seizures have stopped, he’s talking more and when I look at him, he’s in there.
Today, I’m finding more people just like us, more angels to add to the list. I know they have been placed in my life for a reason. I’ve connected with another CTD parent to talk to, that seems to have gone through the exact same timeline of life that I’ve had with Will. We are able to laugh together in our “CTD journey” and it helps me appreciate the many blessings that I have. You see now that I can really count, Will is my angel number 1. He wakes up happy. He loves his family. He especially loves his Daddy (who still cannot skate but is also on my list of angels). He does not meet a stranger, and I cannot tell you the times I’ve met people because they have met Will out and about. Tony and I used to think about what it would be like if “Will were normal”. What we’re finding is that Will is perfectly normal. He has taught us so much about what it truly means to love a child, what it means to be married and how to open your heart no matter what the consequence.
I have often wondered what in the world God was doing thinking we could handle this. Did He not know how hard this was? Then someone said to me, “God must have thought a lot of you and Tony to give you Will.” So I guess He did.
Parents have a sixth sense about their children. Call it a hunch, a gut feeling or a Mother’s/Father’s intuition, but it is real. I think as parents we feel like we have a responsibility to society to be logical and methodical. We don’t like making assumptions based on a mere feeling, but instead want evidence to show proof and validation. Afterall, that’s what we’ve been taught. It is a terrifying thing to come to the realization that there might be something wrong with your child, but it’s even worse not being able to prove it.
It’s that gut feeling that pushed me to keep searching for a diagnosis for my then-2-year-old son, Reid. For me, and for so many others out there like me, the road to a diagnosis can be a long journey. It is tiring and it’s easy to run out of gas. I found myself searching for something I KNEW was there, but without direction I was forced to pave my own way. I took wrongs turns, but I stayed the course because I couldn’t give up. On my quest to uncover Reid’s diagnosis, I heard it all. We were told our son was delayed, to put him in therapy and that he might grow out of “this.” We heard words like cerebral palsy, autism and failure to thrive. It was that feeling inside that urged me forward. If Reid was all of those things, then I wanted to know why.
After visits with over 20 specialists and years of dead ends, we felt like we had exhausted our resources in the Austin area. I was determined to find a specialist who was progressive and who wouldn’t just stick a label on Reid and wish him well. I wanted someone who would see Reid as a whole and not just treat his symptoms. I packed Reid in the car and we drove to Houston hoping that Texas Children’s Hospital would have the answers. On that drive along Interstate-10 from Austin to Houston I wondered if I’d ever find a team who would champion this child. Three days later, on my drive back home to Austin, I was confident that Dr. Michelle Holick and Texas Children’s Hospital were the champions I had been looking for.
After more than two years of, Dr. Michelle Holick at Texas Children’s Hospital diagnosed Reid with X-linked (SLC-6A8) Creatine Transporter Deficiency. While I listened to her tell me how our lives would never be the same, I felt relief that the road to a diagnosis had finally come to an end.
If I could tell parents one thing, I’d tell them to persevere. Listen to your intuition and follow that for as long as it takes. Just because it hasn’t been found, doesn’t mean it isn’t there to find.
Today, Reid is four-years-old. He battles daily with muscular and movement disorders, global developmental delay, expressive language delay, mental retardation, autistic behaviors and seizures. Thanks to Dr. Holick, I know for certain that he will not grow out of “this”. Reid will live a life of constant care. But, he will smile and play and love. He will infect us with his energy and bring us joy. He will meet milestones at his own pace and I’ll continue to be there every step of the way.
When Trenton was born in New York, he weighed 7 lbs 2 ounces. Before we left the hospital, he dropped to 6lbs 12 ounces, by our first appointment 6lbs 9 ounces and stayed there. He was bottle fed and projectile vomited often. I took him to the pediatrician and they just kept informing me that baby spit up is normal. No matter how much I argued with them it was not just spit up, they didn’t begin to do anything until he finally projectile vomited on them. We were in and out of the doctors at least 2 times a week for approximately seven months. They just kept switching his formula. He got a GI scan and that came back normal. No one knew what to do but he was finally gaining weight so they just dropped it.
Trenton didn’t sit up until he was nine months, did not crawl until after age one, and did not walk until almost two.
We moved to Colorado when he was 11 months. Every time I would take him to his new pediatrician, I was told he was healthy. I would bring up his developmental delays and I was informed that he was fine. A month after he turned two, Trenton would get upset about little things and hold his breath until he passed out. He would get up right after and be back to normal. One day while we were at my parents’ house, he was on the porch with my husband and my dad while I was in the house with my mom. My husband came running in the house carrying Trenton who was not breathing and having convulsions. We could not get him breathing, called 911, and my brother had to give him chest compressions to get him breathing again. That was the absolute worst day of my life. We almost lost him that day, and that was the most painful thing I have ever felt. He got a CT scan which came back normal. We went to his pediatrician and she referred him for an EEG. That came back normal as well. I brought up my concerns again with her about the breath holding spells, developmental delays and speech delays. I once again was told he was fine and as far as the breath holding spells, he would grow out of them. Those were not good enough answers so I started searching for a new pediatrician.
When I started taking him to his new pediatrician, I instantly liked her. His first visit with her, she told us there were some concerns. She referred us to get him evaluated for autism and genetically tested. I called to set him up appointments, and talk about waiting lists! Finally after about a year and a half of waiting for answers, he was diagnosed with X linked creatine transporter deficiency. He was also diagnosed with ADHD, and mild autism, but the autism diagnosis is only because of his lack of speech.
Trenton is now 5 years old and in his second year of preschool. It has been a battle with the school due to his behavior. He is extremely hyper all the time, and puts himself in danger quite often. He does not have seizures. His speech is still limited. He says a few words and can sign 2 words. I will always remember the moment he said his first word, mama. It was like music to my ears. Trenton has a way to make you want to pull your hair out one second and then melt your heart the next. He is so full of life and loves everyone. He says “hi” to almost every person in the store, as long as he’s not in one of his moods. His smile can light up a room. He learns a lot from his little sister, which amazes me every day.
I took his diagnosis hard when we first found out. To me, the unknowns in this diagnosis are the scariest. Even though it’s been a hard road to travel, we will never give up on this little boy. He has opened my eyes to so many things. With my family and I and my husband and his family, Trenton has a great support group. When he was first born, I kept looking at him and saying how perfect he was, that has not changed, he will always be perfect in our eyes and wouldn’t trade him for the world.