Re: Phelan-McDermid Syndrome

So we have come to see that James has fewer symptoms than other but one that we are most concerned of is his bodies inability to sweat normally as normal healthy people do. Simply holding hands and walking in a circle singing with classmates allows his body to heat up. A few times he has had small events that resulted only in him emptying his bladder and then going into a deep sleep for 15 minutes or so.

We let his teachers know of this so they can encourage him to drink more water and have time to cool down. The last time he has a seizure was three weeks ago. It was very similar to a grand-mall Seizure which includes convulsions, eye open and rolled back and foaming at the mouth. The latter is caused by the seizure allowing the saliva glands to over produce saliva which with his quick breathing causes it to foam up the saliva. He had a small event in the morning of 101 degree Fahrenheit, then six hours later he had his major seizure and his temperature was 105.9 both are called Fibril Seizure. But his fevers are caused by his body overheating.

He also has short term memory loss. He cannot remember things even one moment to the next. It takes us constant repetition and over months to get him to remember things. some of his seizures have resulted in him also loosing things he had learned. It took a year just to get him to spell his first name and after one seizure he had forgot. He will be 10 in December but his mental ability is about a 2 or 3 year old.

He is a happy child, very carrying and loving of others. He has learned to be respectful of others but like a child he desires attention of all. When he gets excited he flaps his hands, often this is called an Autistic spectrum, he lines up his cars sometimes bumper to bumper sometimes side by side. Aslo a spectrum of Autism.

He will be intellectually disabled for his life. But we will continue to support him as if he is a normal child and lead him in the direction of normalcy of life. He currently has about 50 words most of them not completely understandable but if you know his context you can understand him.

If you have some one like James please share your child's or adults experiences and abilities. Tweet