On March 21, 2018, our lives changed forever. We finally had answers as to why Levi has developmental delays and seizures.
When Levi was born on November 30th, 2016, our little baby boy was the most perfect little human being we had ever laid eyes on. Soon after bringing him home, we had noticed he had trouble eating. I gave up breast feeding after a couple weeks because it was so stressful. Next, was a bottle. I had tried 15+ different kinds with no luck. After a month of trying different formulas and getting nowhere, Levi was admitted to children’s for a week where we found out that he had a submucous cleft palate- the muscles that help with sucking were lacking. He needed to strengthen those muscles. He was still so messy drinking from a bottle, but was finally gaining weight.
A few months went by and he still wasn’t rolling over. I figured it was from the eating troubles that he had delays, so we had Early Intervention start coming in September of 2017. He started sitting up in the summer but would not move from that position. He did start rolling belly to back that time. OT worked with him every week, teaching us different exercises and finally around 13 months he rolled back to belly.
January 10, 2018-Levi had a fever for a day, so I was alternating Tylenol and Motrin which did help. That evening, he woke from a nap and was very lethargic. All of a sudden, he had staring episodes, then his eyes rolled in the back of his head and he became limp. Within 5 seconds he was back to his normal self. My first thought was a febrile seizure, so we made sure he was getting Tylenol and Motrin until this bug passed. The next day, he did the same thing two more times and I took him to Children’s Hospital where he had a third episode in the ER. Levi got an IV quickly after then had a CT scan of the brain, lumbar puncture, EKG, and an MRI of the brain, which were all normal. His influenza swab did come back positive for Flu A. The next day, the doctors wanted to do an EEG to rule out epilepsy. Within 20 minutes of connecting him up to the electrodes, the doctor came in and said he was in constant seizure activity and needed to give him several medications to try to break them. He was connected up to the EEG for 36 hours. Thankfully, they were less frequent and we got to go home a couple days later on Keppra, an anticonvulsant.
A few weeks went by and we did not see any difference in Levi. We can’t see the seizures he’s having, so it is very difficult to judge if he’s having them or not. He wasn’t progressing developmentally like we thought he would, so I requested another prolonged EEG.
February 10th, 2018- A 24 hour Video EEG turned into a 48 hour EEG and a 3 day hospital stay because he was still having seizures, mother’s intuition I guess since we can’t see them. Another anticonvulsant was added, Onfi, and genetic testing was ordered to see if something was causing these seizures. We immediately saw a difference after we were discharged. Levi starting army crawling, pulling up on everything, and furniture cruising. We thought everything was finally on track.
March 21st, 2018- The morning started off with a follow up EEG, just an hour, which actually looked even better than the previous one- so the medications are working. Yay! We had a doctors appt with the neurologist to discuss the genetic testing results. The doctor couldn’t have said the words fast enough, it’s like she was hesitant telling me the words I’ll never forget. The genetic testing came back positive. I was numb.
Levi was diagnosed with a rare genetic disorder called Angelman Syndrome. A lot of you are probably wondering what Angelman Syndrome even is. Don’t worry, you’re not alone-most people never have even heard of it, because it is so rare, one in 15,000-20,000 births. Levi is missing his UBE3A gene on the 15th chromosome coming from the maternal side. This is the answer to all of his problems; his low muscle tone, submucous cleft palate, developmental delays, seizures, and sleeping disturbances. He will have trouble walking and it will take him longer like it did for every other milestone. Some kids unfortunately never walk or talk.
His speech will be a big issue-most kids only say a handful of words, so alternative communication will be in our future. What seems so easy and natural to a baby or toddler was a struggle for Levi. It means he will have to work harder to accomplish simple tasks. It also means that every accomplishment will be a huge victory for him. He has come so far in such a short amount of time, we could not be happier. We are going to kick AS. We look at his obstacles as challenges that he can and will overcome. Someone telling you that your child is not perfect is the last thing you want to hear, but he is perfect in our eyes.
Today, Levi is pulling up on everything, babbling away, when he whines it’s “mamamamama”, he furniture cruises, he army crawls to places he’s not allowed, he pushes himself up into sitting postion, drinking out of a straw sippy cup, eating with a fork, and is crawling more and more on his hands and knees, one step closer to walking.
June 2018- He started at Your Child’s Place, a daycare for kids with special needs. Levi goes there Monday through Thursday where he receives 14 different therapies. 14. Can you believe that is all possible because of this daycare? We are so thankful for the staff at YCP, Early Intervention, and Washington Health System Children’s Outpatient Therapy. He was fitted for SMO’s, ankle braces, to help him stabilize while he stands and walks. He was also fitted for a gait trainer to assist him in walking.
We are in the process of setting up a trust for Levi because he will need lifelong care and we won’t be here to help one day. The Foundation for Angelman Syndrome Therapeutics (FAST) helped fund the first clinical trials in kids 13 years and older. We hope one day that there will be clinical trials for Levi’s age.
December 2018- This will be our first year going to The FAST Gala. There is also a scientific symposium where scientists will discuss the upcoming clinical trials to CURE Angelman Syndrome. They have already cured it in mice. Everyone there either has a child with AS or knows someone with AS, so it will be a great opportunity to have a huge constant in common with several other families.
We have had the best support throughout all this and I could not ask for better family and friends. So this is our story. It may not be the life that we had planned, but I could not imagine life without Levi. Thank you all again for your donations, it means the world to our family.
We’ve created this page because I'm inspired by the breakthroughs being made by FAST, and I want to do my part by raising money to fund clinical trials for Angelman syndrome (AS). FAST researchers know exactly what causes AS and have already cured it in the laboratory. Today, five therapy strategies are in development to treat Angelman syndrome. Your donation to my page helps fund all of them. Please help me support this critical research by clicking the “Give Now” button and donating whatever you can. Every single dollar counts and is appreciated! The more people that know about FAST, the greater their impact, so please also spread the word by sharing my page with your contacts. Since AS is a rare disorder, we truly rely on the support of friends and family members to fund this groundbreaking research. Thank you in advance for your generosity.