Ryann
Ryann’s dream to have her own iPad, that will help her with therapy
Ryann was born June 15, 2009. She was a blessing after two miscarriages. Her older brother was excited to finally have a baby sister!
Ryann’s nurses quickly noticed she had an asymmetrical cry and later note a click in her hips. This click became one the first symptoms for Ryann. She was diagnosed with hip dysplasia and spend the first 2 ½ months of her life in a Pavlik harness to correct her hips. During that time she also saw her first neurologist for her asymmetrical cry which at that time was determine to be an undeveloped muscle. We would later find out it was more than just that muscle.
At the age of 6 months Ryann was not hitting milestones like her older brother. It took her months to gain control of her head. At 6 months she could not pull her head up of the floor if she was on her belly. She looked like a fish out of water when placed on her belly. The typical 6 month milestone of sitting up on her own was nowhere close to happening. Our world was changing fast. We were referred out to genetics and back to neurology. We were told by Ryann’s orthopedist, who was following her hip dysplasia, that something was not right and he suspected Cerebral Palsy. This began the world of MRI’s and lots of blood tests. We begin Early Intervention therapies almost immediately. Ryann had weekly session of physical therapy and occupational therapy. Later adding speech therapy and special education services
Ryann’s MRIs were normal and so were the multitudes of blood tests they ran. Just be patient they said. Let’s test for this and test for that. The only thing the doctors were certain of was that Ryann had hypotonia or low muscle tone. Ryann was falling further and further behind her peers. She did not sit up until 17 months. She didn’t crawl until 24 months. At just shy of two year old, Ryann through another curve ball at us.
She spent a month spitting up more and more until she was projectile vomiting everything. We spent a week in the hospital and determined that Ryann had temporary gastroparesis. The doctors said it was also related to her hypotonia. The combination of hypotonia, reflux, and a stomach virus had shut down her system. We also learned that Ryann had dysphasia meaning she didn’t swallow things correctly. So we added feeding therapy to the list of Ryann’s weekly appointments.
At this time I started looking elsewhere for answers. We started seeing a team at John Hopkins Children’s Hospital that specialized in kids with hypotonia. More tests were done to rule out metabolic issues, Angleman’s syndrome, Kabuki Syndrome, Retts Syndrome, MECP2, and more. Everything was coming back normal. Once again we were told to be patient. The doctors thought the Ryann would be a good candidate for whole exome sequencing but it was still in the testing phase and not available through insurance at that time. We were referred to Kennedy Kreiger to be followed by a developmental pediatrician.
Ryann was and still is performing 50-75% below her peers. She finally learned to walk on her own at the age of three. She is also considered to be intellectually disabled. Heart breaking words to hear as a parent. In February of 2013 Ryann was approved to have whole exome sequencing completed. After 6 months of waiting the test results were finally in.
It was determined that Ryann has a de nova mutation in a gene called HIVEP2. This gene had just recently been identified as a gene linked to human disease. My stomach sank but at least we had an answer, right? Yes and no. Yes we know the probable cause from Ryann’s global delays but there is only one other identified case in the world. There is one other young lady in Germany that also has a mutation in the same gene.
We continue to live in the world of the unknown. Ryann suffers from hypotonia, intellectual disabilities, dysphasia, reflux, and global delays. She is nonverbal with only a few words that are used here and there. She cannot sign due to her hypotonia which affects all the muscles in her body. What we do know is that Ryann is a beautiful little girl who loves life. She is extremely motivated by music and electronics. Ryann only has a couple words she will use consistently. One of those words is Ipad. It sounds like “bipad??? but it’s a word. We have been working on getting Ryann her own Ipad or tablet but they had always been out of our budget with therapy bills, doctors bills, and the daily bill involved with having 2 children and only one working parent.
A couple months ago a close friend of mine met a young lady named Jamie who ran a nonprofit organization called Jamie’s Dream Team. This dream team was going to give her daughter a dream princess party as she fights her battle with lymphoma and short bowel syndrome.
On November 30 I had the pleasure of meeting Jamie in person at the beautiful princess ball for Brielle. Everything little detailed had been planned horse drawn carriage, ballet dancers, and even Santa. Jamie noticed my daughter Ryann, her contagious giggling, her excitement watching the other children, and her drive to move to the music in her own way. There is something about Ryann that lights up a room. Jamie asked if I minded telling her about Ryann. I explained the world of hypotonia and the journey of endless testing, feeding issues, global delays, and the unknown of HIVEP2 . I told Jamie Ryann’s story but never imagined what unfolded that night.
My daughter has just a few things that really catch her attention and motivate her. We had discovered through hours of therapy that Ryann LOVED the Ipad. She would try to walk across the room to get to one. She even will say “bipad??? if it means she gets to play with one. As I mentioned before she only has a handful of words. She will try to do just about anything to play with an Ipad. She has also been learning to communicate with a tablet during her therapy sessions. I mentioned to Jamie that this was something we wanted to get for Ryann but it was out of the budget right now. Jamie and her team quickly moved into action. Within just a few hours her team made another dream come true. My daughter now has her own Ipad to learn with at home presented to her by Hello Kitty. My daughter was memorized by Hello Kitty as I held back the tears. It may have seemed like a small gesture to some but to Ryann, her father, and I it is huge! It opens a whole other window for Ryann. She even has another word thanks to the Ipad and Jamie…???melmo??? . In Ryann’s world that means Elmo.
Jamie, we cannot express how thankful we are for you and your wonderful team members. You reached out and helped when many other organization won’t. I thank you from the bottom of my heart!