Our son has brought us so much joy and happiness and with his smile and contagious laugh. He brings that same joy and happiness to all. Even though we have our days of struggle, we are blessed with Jasper and he is our Lil’ Einstein.
What is Angelman Syndrome (AS)?
Angelman Syndrome (www.angelman.org) is a rare neuro-genetic disorder that occurs in one in 15,000 live births world-wide, with one in 5000 in the U.S. and Canada. Angelman Syndrome is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.
Jasper was born in Tomball, TX on April 2, 2015. He looked like your normal baby with no issues. His Apgar tests came back fine and we were released from the hospital in one day. We took him home and he was the best little baby. He hardly slept, but that isn’t uncommon. We had some feeding issues, but were able to overcome that. About the age of two months, he was rolling all over the place, which seemed to be advance for his age. He hated to be in anything that held him in place. He was very active. We started to notice him having these spells of staring and blinking a lot. At his doctor’s well-checks, we let them know our concerns, and the doctors would tell us nothing was wrong and that Jasper would develop on his own time.
At six months of age, another doctor’s visit. He wasn’t rolling over anymore and wasn’t trying to sit up or crawl. We were told, again, that Jasper would develop in his own accord. We felt something wasn’t right. We asked them about his spacing out spells and his eyes blinking and going back. They saw it and again, nothing is wrong. We knew different.
At nine months of age, we saw a different doctor in the practice in TX. This doctor finally saw that something wasn’t right and told us that as soon as we got to Colorado and got established with a pediatrician to get Jasper looked at and he recommended an MRI.
We moved to Colorado Springs in March 2016. Jasper was 11 months old. We were able to get him into a pediatrician in April. The first visit we had, we explained our issues and showed the doctor the spacing out that he did, and immediately she said it’s a seizure. She asked how many times a day Jasper would do this and we said at least 60 an hour. She was going to get him fast tracked into a Neurologist. She also mentioned that if we noticed them getting worse to take him into the ER.
That night we did our research and started to Google epilepsy, laughter, developmental delays and came up with Angelman Syndrome among other things. We just knew that we had an Angel on our hands. We felt it with all our hearts. His symptoms matched up with almost all of the characteristics of AS.
Within a couple of days, Jasper’s seizures got worse. He was having head drops. The ER doctor contacted the Neurologist to get Jasper on medicine immediately. Within a few days of the ER visit he was scheduled for his EKG to measure his brain waves. We were brought in for the diagnosis a week later. We voiced our concerns about Angelman Syndrome and the doctor was very surprised we knew anything about it. We told him he had most of the characteristics and we felt in our hearts that he had it. The neurologist agreed and said that without a genetics test he couldn’t formally diagnosis him, but he was 95% sure also.
Our next step was the MRI which came back fine. We got in contact with TRE -The Resource Exchange (www.tre.org), where they assessed him and saw his needs. He started with Physical and Speech Therapy. We were scheduled for a genetics test in Denver the beginning of July and he had his blood drawn and we got a diagnosis back within ten days. Angelman Syndrome – Chromosome 15 had a maternal deletion which means it was turned off.
Since then, Jasper’s had an ultrasound done on his kidneys, which are fine. Tests were run on his heart, which is fine. Both of those are characteristics with problems. His eyes have been a different story. He has strabismus (lazy eye) and his vision is poor. One side being worse than the other. He’s had surgery to correct the eyes and that has made a huge impact. He still wears glasses and probably will throughout his life.
Jasper currently is in Physical, Occupational, Speech and Floor Time Therapy. We are looking into Hippo (horse), Vision and Hydro (water) therapies soon. He has overcome so much in such little time. The doctor’s diagnosis was so upsetting at first. They told us he wouldn’t walk or if he did, it wouldn’t be able to until he was about five to seven years old. He will probably never speak. His developmental delay will be major.
Jasper is our Lil Einstein! He has beat the odds with his hard work! Our family works together every day to help Jasper! He is our ANGEL!
Jasper’s Mom and Dad
