New Hyperekplexia Society now on Face Book

I was really excited to find this a new Face Book group " The Hyperekplexia Society". The group was created by Andrew Latham who was diognosed with Hyperekplexia when he was 21 years old. He has a passion to raise awareness of Hyperekplexia and reach out and support others diognosed with Hyperekplexia. The group is growing rapidly and there are other members now in the Society that share their stories and offer support to others affected by the disorder.

The Hyperekplexia Society is an amazing breakthrough for Hyperekplexia Awareness!

Visit the network today >>> The Hyperekplexia Society

Hyperekplexia at the age of three

Jaydon is now 3 1/2 and doing well. Because of his stiffness in his legs which caused his toes to point he had a hard time walking. He has a heel cord release on both feet at Dupont Hospital for Children in October and is now walking flat footed. The surgery has improved his balance and Jaydon is now jumping and running which is something that we never thought he would do.

He still startles frequently while walking and is afraid to walk alone in public places. He does not walk at all around large crowds in fear of getting startled and falling. He does have the typical Hyperekplexia startle response and will fall like a log to the ground. I am not sure what the future holds for Jaydon as far as school goes or how he will be able to adapt to society but as for now we are grateful for the progress that he has made so far.

Hyperekplexia is a disorder that many more doctors need to be made aware of. As I take Jaydon to various Children's hospitals in search of answers I have yet to find a doctor that has ever heard of Hyperekplexia let alone knows how to treat it. I am on a mission to raise awareness of Hyperekplexia and pull more specialists into this unexplored world of startles, jumps and falls.

If anyone has been diagnosed with Hyperekplexia or has a family member with Hyperekplexia please contact me. I would love to hear your story and together we can become the support that these children need in a world that just don't understand.

Hyperekplexia: Ashley's Story

When I was in my mummy's tummy, I used to have strange movements. Mummy felt like I was having a seizure in her tummy. I was mummy's first baby and so she didn't know whether this was normal or not, although she was quite concerned. She asked her midwife, and the midwife assured her that It was hiccups. Mummy also spoke with other expectant mums and they also said it sounded as if I had hiccups. So mummy put her worries to the back of her head.

I was born on the 9th June 2005. Mummy and Daddy were very happy as I seemed very healthy and had a high Apgar score. It was only about 4 hours later when I was having a bath, that things got a bit scary.

During my bath, I started to get tense. The midwife noted this and went to call the doctor. While she was away, I started to have a seizure. Mummy was so scared as I had started to turn blue, she immediately pressed the call button and screamed for help. After that I was rushed away to the Special Care Baby Unit were I was to remain for just over 3 weeks.

I continued to have other seizures, and the doctors had no idea what was wrong with me. I had an EEG, MRI scan and lumbar puncture. Samples of blood and urine were taken. Mummy and Daddy were very scared as we though they might lose me. It was only after 2 and a half weeks that a nurse suggested Hyperekplexia. When they tapped my nose, my arms and legs would flay out to the side (like I was star jumping). Apparently, this nose tap test is one of the ways they diagnose Hyperekplexia. Blood was also taken, and after 4 months the blood result confirmed I had Hyperekplexia.

I was prescribed Clonazapam and sent home after 3 weeks and 1 day. I had an apnoea monitor, and mummy and daddy were taught how to do CPR on me. I continued to have severe seizures for about the first 9 months of my life. Usually baths and going over bumps when out walks in my pram would set them off. Mummy and daddy could bring me out of the seizure by "folding me in half". The doctors had shown then how do do this and it always worked a treat.

I am now 3 and a half. I walked at 18 months, although I am still very unsure on my feet. I fall easily and I still startle. I don't like dogs or traffic noise. I am developmentally slightly behind my peers. The strain of hyperekplexia I have is very rare and the doctors are unsure of how it will affect my future. Mummy and daddy both carry a faulty gene and I got the bad one from each of them, and that is why I am affected by Hyperekplexia. I am a very happy and loving child. Mummy says I am an angel! I now have a baby sister who does not seem to be affected by Hyperekplexia, although we are awaiting confirmation of this through her blood test results.

Hyperekplexia: a day in the life of a child effected

What is Hyperekplexia?

People affected with Hyperekplexia have an exaggerated startle reaction to stimuli. This stimuli includes visual, auditory and tactile stimulation.

A person affected with Hyperekplexia reacts to sudden stimulation by startling, this is a short period where voluntary movements are impossible, the stiffness is so severe that it prevents the individual from putting out their arms to protect themselves from falling thus falling straight to the ground like a log often resulting in injury.

Because of this exaggerated startle response the entire family must condition themselves to providing an environment within the home that is calm and quiet. Even simple things like closing a door, the volume on the television and washing dishes is enough to startle a child with Hyperekplexia. The outside world cannot be controlled. Barking dogs, cars and every day noises can make a child with Hyperekplexia feel insecure and frightened. Families must work together to provide a world within the home where the hyperekplexia child feels secure.

I would like to start a support group for families with a Hyperekplexia child. If you or anyone that you know has been diagnosed with Hyperekplexia please contact me carolstinson@yahoo.com.

Together we can make their world a better place.

Hyperekplexia: Jaydon's Story