Featured Child- Jake A.

Jake A.


Jake A.
Jake has microcephaly, cerebral palsy, myoclonic , complex partial and gelastic epilepsy, mental retardation, and is on the Autism spectrum . He also has a variant/mutation on the gene for Rett Syndrome.
At 12 months he still could not sit up by himself or crawl. I had asked our previous doctor at every visit if Jake’s development seemed abnormal. He told me what I’m sure so many other parents have heard…”All babies develop at different rates”. I knew that was true, but I KNEW that something was wrong. He also never said anything to me about Jake’s head circumference steadily dropping down the chart.
We switched doctors. We were told that Jake’s head circumference was a little small and he was delayed in his development. Jake was sent for a CAT scan. It showed enlarged ventricles. We were then sent to a neurologist, where we were told he had cerebral palsy, microcephaly, and pending an EEG, seizures. He was given an EEG and MRI the next day We never went home from the doctors office. We were sent straight to the hospital where we stayed for 3 days. The EEG showed generalized myoclonic seizures and background slowing. The MRI showed evidence of mesial temporal sclerosis and microcephaly. The diagnosis of mts was later changed to PVL.
Jake started having myoclonic seizures a little after his first birthday. They manifest as single whole body jerks. In the beginning he would have maybe 10 of these jerks only at night as he was falling to sleep. We had no idea that it was seizures. By the time we got to the neurologist, he was having between 500-600 jerks a day, all day. He also occasionally has gelastic seizures and has had several complex partials sometimes with and sometimes without them going into generalized tonic/clonics.
The gelastic seizures (laughing), again, started at the beginning of sleep. It was just a little chuckle as if he were dreaming. But soon he was having them several times a day, all day. A lot of times it is just a little giggle, but sometimes he laughs hysterically. He will lose tone and fall flat on his face. Sometimes his eyes will roll, he becomes unresponsive, and he just smiles with his mouth wide open. It can last from 3 seconds to a minute, and has gone on for up to 20 minutes of intermittent laughing. He had 2 febrile seizures when he was 1 yr old.
Jake began physical therapy when he was about 13 months old. Soon after that he started speech and occupational therapy. He can now sit up, crawl (well bunny hop anyway), climb up onto the couch, push his wheelchair. He still can not walk independently, but uses a walker in therapy. He is non verbal.
All testing came back normal for years. The neurologist thought something such as an unknown virus when I was pregnant is the cause. The geneticist thought it could be something genetic. Regardless, we were told theoretically, there was a 25% chance of having another affected child, but because no one could find an actual genetic cause, we were told it would probably be fine, no reason not to. We waited and debated for almost 10 years.
Jake’s baby sister, Kaitlyn, was born on 8/7/05. We were surprised, but not totally shocked when she started showing delays and microcephaly. Looks like a genetic thing after all. On a chromosome test for Rett Syndrome, both kids show an unknown mutation on the MECP2 gene. Because I also have this mutation, the lab is saying it is not the cause of the kids problems, but our genetics still thinks it is a factor somehow.
To hear “Your child has cerebral palsy” is very hurtful and scary. Even though we knew there was something wrong with Jake, we were not expecting to hear that. That one sentence has changed our whole life. Most people worry about what color car to buy, which sports their kids will play, or what to do about a kid’s sassy mouth. Now we have to ask will a wheel chair fit in this car, will my son ever walk, and will I ever hear “I love you”.
We went through so many emotions in the beginning. Hurt, fear, anger, loneliness, bitterness, disappointment, sadness. And just when you think you’re over all that, it starts all over. It’s like we were given this wonderful little boy who was going to grow up and climb trees, play with bugs, chase his big sister, and play football (for the Kansas City Chiefs!!), and then it was like that wonderful little boy was just snatched away. And we were left with this empty feeling of loss. But we soon realized that Jake was still Jake. He was still our sweet and beautiful son. Of course I would do anything to take these problems from him, but I could not picture life without him, just the way he is.
Children with any kind of delay should be enrolled in a birth – 3 early intervention program. We had someone come to the house and work with Jake. They would come once a week for an hour and just sit in the floor and work on things like fine motor skills, putting things “in”, “reading” books, and anything else that I requested. He came off the program at 3 yrs old and was then enrolled in preschool at the public school. We homeschooled from age 6-8, and now he is back in public school and seems to enjoy it.
I started this web site because when we first found out about Jake, we felt so alone and helpless. Finding out your child has any medical condition is bad, and lack of information makes it worse. I have found that the more knowledgeable about Jake’s problems I am, the less helpless I feel. I know there are many other parents out there going through exactly the same thing. I may not know what caused Jake to have these disabilities, but I understand what’s going on and what I can do to help him. And I know that I am not alone. And that is very important.