Dillon | September 27, 1993
Dillon was our first born of 3 children. I had a relatively easy pregnancy… was induced at 42 ½ weeks. He was born via c-section, everything seemed fine with the exception of his white blood cell count, and Jaundice.
As a baby, he was very sleepy, many times I had to wake him for feedings. At about 4-6 months I became concerned. He wasn’t making eye contact, showed no interest in looking or picking up toys, and slept almost all the time. I remember he would stare at the ceiling holding his arms up and seem to enjoy looking at lights. We took him to our pediatrician with our concerns… He said, “He’s a little delayed but all babies develop differently.” and sent us on our way. As time went on it became clearer that something was not right. …
Around 9 months he was diagnosed by a pediatric neurologist as severely physically and intellectually disabled. This was probably the hardest day of my life! I can’t even put into words the different emotions I felt that day. I just remember how helpless I felt, cried buckets of tears, and knew at that moment that life was taking us into a different direction. The battery of tests started….Dillon was tested from Mitochondrial disorder, Leukodystrophies, to chromosomal abnormalities etc. His MRI was normal however the EEG came back abnormal. His hearing test was within normal limits and his vision showed that he was farsighted, exotropia, and strabismus and cortically blind. We tried glasses for about a year and didn’t notice any improvement. However, it was a constant struggle getting him to keep them on…
We immediately started OT, PT and speech Therapies. He sat up on his own at the age of 3, army crawled at 5, and crawled on all fours at the age of 7. He was able to learn how to take steps using a walker with assistance. I remember we would use food as a motivation when working on his mobility. He loved honey buns and a simple crinkle of the honey bun wrapper would persuade him to make steps! We used AFO’s, standing frame, and a gait trainer to help with his mobility. Dillon is non-verbal and I always say he speaks with his eyes. I do find that he uses his peripheral vision and responds to touch more than visual objects. He does recognize his name at times and responds better through sounds than visual.
When Dillon was around a year old he started having crying spells…they were usually only at night. I would try desperately to hold and comfort him but to no avail. I tried many over the counter sleep remedies and nothing seemed to work. The only thing that soothed him at times was a car ride. When he was 3 years of age he was prescribed Clonidine/Catapres for sleep and this has been a game changer for us.
I have never been able to get Dillon on a sleep pattern. Some days he sleeps 12+ hours and other days just a few. From the moment he wakes his hands are in constant motion until he falls asleep.
Dillon’s favorite things to do- bath time, chewing, eating, swinging, going for walks, being outside and he loves to be tickled!
When Dillon was 15 years old he stopped eating and a feeding tube was placed. After the surgery it was found that he had ulcers in his esophagus. We were prescribed Nexium and this has helped but I’m told due to the scar tissue he will most likely always have difficulty eating. Dillon doesn’t chew well but he can pick up food using the pincer grasp and feed himself soft sandwiches and loves a good Whooper and fries! Recently he had stopped eating and begin to lose a lot of weight. I’m thankfully for the feeding tube for it makes life easier when giving his meds and most importantly he’s able to get nutritional supplements on the days he doesn’t eat well.
In Dillon’s younger years he spent a lot of time crawling and sitting on the floor grabbing his favorite chew toys from his toy box. I remember when he started to pull himself up to stand. This could be challenging at times because he was unaware of danger. When sitting he would rarely use his hands and would use his abs and kind of roll his back to the sitting position. Over time I believe sitting on the floor somewhat hunched over he developed scoliosis. (75% curve) He had a spinal infusion when he was 18 years old. Unfortunately after the surgery he was never able to crawl or sit again despite going to therapy several times a week. I miss those day when he was mobile. I sometimes wonder if I had him more prone sitting in a rifting chair if this could have prevented the severe scoliosis.
It’s hard to believe that Dillon will 29 years old this year! He’s still much like his younger self…. I don’t know why but for the last several years he has gone through phases. He will have weeks of happiness and suddenly have weeks of extreme outbursts of hitting himself and wailing… When he goes through this it is accompanied with a fever and we found he has Tachycardia. We discovered this after bringing him to the ER… Immediately they noticed he had Tachycardia and was given a Beta blocker. Most of the time Clonidine and Risperdal help. But when he gets extremely agitated I’ve yet to find anything that will help calm him. The hardest part is not knowing if he’s having pain, and if so, where’s it coming from? We recently started him on a probiotic for his gut. He went from barely eating and just generally not happy to all smiles and eating regularly…For us a probiotic and been huge! I’ve learned changing his probiotic every few months seems to work best. There’s a lot of research online regarding the gut and the brain and now I’m a firm believer.
I have found that he has mellowed a lot in the last few years and even more in the last few months! He still requires medication for sleep but rarely do we need to give him daytime meds.
Dillon is my heart and although we’ve had many challenges I can honestly say that my love for him is like no other. He’s taught me so much through this journey and I couldn’t imagine my life without him.
We are all still learning about Baker-Gordon Syndrome and although I see many similarities each child is unique and they all develop differently. I just want to encourage our members to share their stories or concerns- because knowledge is power.
Lastly, Dillon was diagnosed through exome sequencing and I’m wondering is this how your child was diagnosed? Back when Dillon was tested our geneticist had no information on the mutation of SYT1. Thankfully I found a physician in Australia who referred us to Dr. Kate Baker and Dr. Gordon. I’m forever thankful for their research and identifying this mutation.♡