playing in water and making new friends and she has Angelman Syndrome. Angleman Syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births and is characterized by
developmental delays including difficulty speaking, seizure disorders, and
symptoms of autism, cerebral palsy and even more. However, individuals with
Angelman Syndrome are often full of smiles and laughter, leading to the term: “Happy
Puppet” and Sophia is no exception. Please support and celebrate Sophia and all
those who are affected by rare diseases this Thursday, February 28, for Rare
Disease Day. For more information on Angelman Syndrome, please visit www.angelman.org.
Isaac Sintz was born on August 5, 2006. He was born a healthy child with no complications.
At the age of 6 months he had a febrile seizure after immunizations. Again at 9 months and 12 months Isaac had febrile seizures with immunizations. At that point we stopped immunizations and we were told that he would outgrow the seizures. He did stop having seizures. He was in preschool reading and writing and doing very well. He was even advanced for his age. He had developed and progressed completely normal, until he was 3 1/2 years old.
In December of 2009 Isaac had a non-febrile seizure at a birthday party. It was a tonic-clonic seizure that seemed to last for hours, but in reality was maybe 4 minutes. We have no idea why he would have a seizure completely out of the blue after all of these years. After going to the emergency room, they told us his EEG was normal and he would still outgrow the seizures. Exactly two weeks later he had another seizure. After another trip to the emergency room, they then diagnosed him with epilepsy. This was heartbreaking. Why was my son, that was otherwise so healthy, having seizures?
He began having seizures every day. All of the seizures being tonic-clonic. He was seizing and sleeping and never coming out of it. He was put on a medication that didn’t help his seizures, but started to cause horrible fits of rage, crying, and horrible body pain. Two weeks of that and we stopped that medication. We continued doctors orders, trusting that they would be able to help my son and stop the seizures.
Once again, the medication did not help control seizures at all, but caused horrible side effects.
During the next couple months his seizures picked up pace at full speed. He would seize every hour and then sleep, seize and sleep non-stop. He wasn’t waking up to eat or take meds. We were shoving meds down his throat to get him to take them. We had to syringe fluid in to his mouth to keep him hydrated. We were in the hospital for two weeks, out for one, in for three weeks, out for one, etc. for three months. The doctors had no idea what was wrong with him. They would get him stabilized and send us home. The minute we were home, the nasty cycle would start all over again. The rescue meds stopped working because we were using them so frequently. Even when he was awake it was like he wasn’t alive. He wasn’t able to talk or communicate to us. We were carrying him around because he couldn’t walk. He was back in a diaper.
At one point, after being in the hospital on and off for months, they told us he would never walk or talk again. Once again our hearts were shattered. But there were no answers as to what was wrong with him. Why was he having all these seizures and losing all of his abilities??? Finally they did some genetic testing while he was in the hospital. We then got a call to tell us that he had Dravet syndrome.
I had never heard of Dravet syndrome. I immediately started researching this disease. It was worse than anything I could have ever imagined. The information I found told me that my son was going to have intractable epilepsy for the rest of his life despite medication. That there was a high fatality rate and that he would not live in to adulthood. That he would be mentally and physically disabled. That my once healthy normal child would never be the same again. We went through the grieving process. We had lost the child that we once new. It felt like our world had been completely shattered, fearing the unknown and the unexpected.
We love our Isaac more than words could ever express. Our Isaac is just a new Isaac. We have a new normal. Our life has completely changed. Because of Isaac’s seizure threshold we are not able to live as we used to.
Isaac now has failure to thrive and is fed through a g-tube. He doesn’t regulate body temperature and has seizures when he overheats. He has ataxia and falls and hurts himself very easily, etc. We have to be very prepared every time we leave the house for any kind of emergency. We can’t do a lot of the things we used to do because Isaac can’t mentally or physically handle the strain and commotion. But, through these challenges, our family has grown closer together. We don’t take anything or anyone for granted. We appreciate each other more fully and respect each other for all that we have to sacrifice for each other. We are loving each other through new and improved eyes. This has changed us all for the better. We have learned valuable life lessons and met incredible people dealing with similar things that we would have not met under any other circumstances. We are so blessed.
Isaac is doing much better now. After meeting with doctors who specialize in his disease, we have been able to get him the treatment he needs. Isaac is walking, talking, riding his bike, and going to special needs school. We have also learned that there is more hope for Isaac with the more recent research on the outcome of the disease. We have hope. He may never learn to read or write, but he is still our little ball of fire that we are able to put our arms around and hug every single day. To see his smile, makes it all worth it. He is our Isaac and we love him more than anything in this world.
– April Sintz
This is Isabelle. She is 8 years old and has
Rett Syndrome. Rett Syndrome is a rare genetic condition that affects almost
exclusively girls and includes symptoms of Autism, Epilepsy,
Parkinson’s syndrome, Cerebral Palsy and anxiety.
2004 to join her siblings, Emily and Tom. She was small at birth and the nurse
exclaimed “What a little peanut!”. Peanut has stuck ever since. After 6 days of
life, Izzie gave us quite the scare; she was blue in her crib. We know now that
was her first seizure. After a week in the hospital with lots of tests, she
went home with a heart lung monitor and oxygen.
and between 9-18 months they regress much like an Autistic child. However, they
continue to lose skills and develop symptoms of Cerebral Palsy. Isabelle is A
Typical in that she never had developed milestones. At 8 months, she was
not rolling over or sitting up. At that point, we decided to take action. We
were huge fans of the movie “Mr. Holland’s Opus” and became convinced she could
not hear. It took 16 audiologists before we were convinced there was nothing
wrong with her hearing. We moved on to a behavioral developmental specialist
who gave us a clinical diagnosis of Angelman’s Syndrome. A few
months later, she scared us with her first recognizable seizure: A grand
mal. Back off to the hospital for another long stay. After 2 years of
testing, and little developmental progress, we learned she has Rett Syndrome.
foods on her own, and the muscle tone to chew anything. She was placed on a
feeding tube, which is common in Rett, and has been doing very well with it.
She is wheelchair bound and is learning to use her eyes to communicate with a
computer. We have found that she has a wonderful sense of humor and a strong
is very smart girl who loves flirting with her sister’s boyfriend, baby dolls
and the color pink. Everyday we see more
of her personality coming out. She loves music and dancing, Dora the Explorer,
television segment in Canada as a spokesperson for Rett Syndrome (and got to go
swimming with the dolphins for the shoot!). This Thursday is Rare Disease Day
and we celebrate all those diagnosed and those yet to be. For more information
on Rett Syndrome, please visit www.rettsyndrome.org.