All About Ryan
Born 6 1/2 weeks early, Ryan was discharged from the NICU on his due date with an apnea monitor and oxygen. He slept in his pack and play in the living room with his mommy on the couch for at least 4 months. The pediatrician had us check into a pediatric developmental physician along with a pediatric neurologist and geneticist. A few months later, we started therapies as Ryan just wasn’t growing and learning as …what do you call it…”normal people” do. And a little help wouldn’t hurt.
He started Physical, Occupational, and Speech therapy when he was 8 months old as we knew something just wasn’t right. We did everything possible, creating different objects to surround him, to help Ryan sit up on his own, and he still wasn’t able to without support. We looked into the genetics testing and had some blood tests done, but everything checked out ok. There was a microarray test that the genetics counselor wanted to try next, but insurance wasn’t going to cover it just for global developmental delays. Ryan saw a neurologist and had some muscle tests, MRIs, and EEGs done through the years. When he was 16 months old, he was sitting up on his own, with little to no help with lots of muscle building still being the main focus in PT. He was tummy crawling using his arms to pull him, but he couldn’t get up on his knees and stay there to crawl. We started getting referred to have more MRI’s done and something just had to be going on genetically…but when.
Ryan wasn’t on the growth chart so he started seeing the GI clinic to see what else could be going on. He was prescribed Pediasure and we worked on getting him on a high calorie diet. He had homemade baby food with lots of butter and oils. In ways, this also helped with his constipation issue…
At well baby checks, the doctor mentioned that Ryan’s testicles were not descending and they should have by now. Another surgery in the books for Ryan before he was 18 months old.
After multiple MRI’s, there was a noticeable amount of fluid that was in Ryan’s ventricles. With the extra fluid there, the doctors realized Ryan had a Chiari Malformation which required surgery. Four days before surgery was scheduled, Ryan was not acting himself. I rushed him to the hospital where it was determined surgery would happen the next day, 2 1/2 weeks before Ryan’s 2nd birthday.
Ryan started having noticeable seizures 4 days after his chiari. They were once every 3 or 4 months to start and we tried controlling them with medication. But the seizures didn’t stop Ryan from growing and becoming more physical and doing things on his own. Due to the hospitalization, we were able to get the microarray testing done and complete. It could take months to get answers… so we waited. During his recovery, Ryan still saw his therapists so he could get his strength back and keep working hard to grow and excel.
During recovery from the Chiari, a walker was given to us to borrow from our physical therapist with the Birth to Three program and we will be forever grateful as Ryan started cruising around the house and up and down the driveway as time went on. About 2 weeks after the Chiari, he was cruising around furniture without his walker or us holding onto him. His determination and fighter attitude kept shining through.
January 2011 – we received word Ryan was diagnosed with Chromosome 18 abnormality. The results that came across from the genetic testing was like reading another language — no really. I’ll prove it: 46, XY, mos inv dup(18)(q11.2>q21.2::q21.2>q11.2::q22.1>qter)del(18)(q21.2q22.1)/46, XY, .
The genetics counselor told us Ryan was the only child they knew of who had a Chromosome 18 abnormality. They said they didn’t know what Ryan would be able to do as he grew. “Ryan will write his own book”, they said. “look into the Chromosome 18 Registry and Research Society or Unique…both contain information about Chromosome Abnormalities.”
Finally with a diagnosis, I thought we’d have more answers from doctors and therapists…but instead, doctors told us Ryan wouldn’t ever walk. He wouldn’t be able to talk. And if I thought he would ever gain weight or be someone some day – I should just stop dreaming for the person he could become.
After Ryan aged out of the Birth to Three program, the decision was made that he would attend a special needs school. He rode the bus to and from school everyday taking his walker with him. He learned to walk the halls and had a lot of help with the therapists there. He saw PT/OT and Speech every week while in school. He was becoming stronger, growing bigger, and starting to prove anyone who ever told us he wouldn’t….wrong!
However, as time went on, Ryan’s seizures progressively got worse and he was diagnosed with Mesial Temporal Sclerosis (MTS – Scarring on the brain). Medications were moved around and different medications were tried. There were some hospitalizations due to seizures and things were pretty stressful for everyone. MRI’s and EEG’s were done more and more and the mention of brain surgery was within the whispers of the neurology team. Ryan had neuropsych evaluations so we could see where he lied developmentally. The first evaluation, Ryan was diagnosed with POS-NDD (Autism Spectrum). Due to his MTS, this testing was important as it could spread or get worse as time goes on….and the doctors could use this to know if Ryan was growing or regressing within his cognitive development.
During a long term EEG and 2 week stay in the hospital during the summer of 2012, Ryan was taken off of all of his medications and didn’t have a single seizure. We saw a completely different Ryan that we were used to. Not one that was shut off to the world when he was taking those medications, but a little boy who actually loved and wanted to finally show it to the world and those around him. We ended up changing medications again and brought a whole new boy home from the hospital. Within a week, he was walking on his own and ended up staring school that year for the first time without his walker.
The medication change was a definite must and an amazing outcome. However, the seizures continued and were progressively getting worse as there were more of them. With more MRI’s and EEG’s, NeuroPsych evaluations, and another long term EEG — as seizures went from once every 3-4 months at the beginning, to once a week — a two part surgery was scheduled and complete.
Ryan had grids and strips placed on the inside of his head and directly on his brain for 2 weeks. He was taken off of all medications and they needed to see activity where he was having the seizures in order to be 100% certain what part of his brain they would take out. After 2 weeks, it was determined the area where the MTS was – in the left temporal lobe – was where the seizure activity was starting and spreading to other areas. The left temporal lobectomy was done December 23, 2013.
Since the removal of his temporal lobe, Ryan has proven to be seizure free. He has gone through a few spurts of losing strength but gains it right back and stronger. He has PT/OT and Speech at school and we have also picked some up outside of school as well – once a week. He has become more verbal, stubborn, and a lot more affectionate since the surgery.
This boy is full of so much love and will and fight – I can’t imagine my life without him! I am so blessed and have grown so much because of him, the people in our lives that continue to bless us and support us, and so much more…
He is definitely writing his own book…because if it was up to me, this definitely isn’t the way we would have started the first 5 1/2 years of his life. (Note – that’s sarcasm!)
Since January 2011 — the main diagnosis of Chromosome 18q-mosaic — the Chromosome 18 Registry and Research Society and the families involved in the registry, have become apart of our extended family. With the help, support, and donations of so many of our family, friends, and people that we don’t even know – we were able to join the Registry for the yearly conference in Savannah, GA in July 2013. We have continued to fundraise and will give back to the Registry as without their help, research, other families, and everything EVERYONE there does, so many people would be lost and without answers or help to advocate for their children. Knowing there is a place for us at a conference – even if it’s just once a year – physically, emotionally and mentally, we have a family with all of our Chromosome 18 buddies and their families.
If you feel you’d like to donate, please feel free to do it here – where family have started a donation page to help us with the costs of the Chromosome 18 conferences and what Ryan needs.
If you’re interested in donating to Britney’s cause with a Paracord bracelet in mind, please visit THIS page.
If you’re interested in giving directly to the Chromosome 18 Registry and Research Society through our team with the half marathon/walk/run happening July 20, please visit THIS page.
Thank you for reading Ryan’s story! We will update the blog as we have them. To get those updates in your email, click the “Follow” on the right side of the page and complete the prompts.