Circle of Friends

Judith Fried

Santa Cruz, CA

Your CLS newsletter provides such helpful and useful information. I hope the enclosed donation is helpful.

In a listing of research articles you sent me, there is one by Crow et al, Cataplexy and muscle ultrasound abnormalities in C-L syndrome. If you have that available, could you send me a copy?

Also, is Dr. Grange Coffin of Berkeley, CA the original “Coffin” who noted the syndrome?

Thank you.

Judith Fried

I thought I had a copy of the cataplexy article until I went to the file folder for that article and found it empty. Does anyone else have a copy of that article?

Yes, that the Dr. Coffin at Berkeley is one of the two researchers who identified Coffin-Lowry syndrome. The other is Dr. Brian Lowery of Calgary, Alberta, Canada.—MCH.

Miss Michelle McGloin

Cleveland, Great Britain

Dear Mary,

Thank you for writing to me and introducing me into CLSF News. I have enclosed the form with a little information on Shanelle.

I would like to make a small donation as the work you do is very close to the heart and I was wondering how to go about it, whether you can take cash or postal orders and if it can be done using English or American money. It may not be much but a little something to keep the newsletters coming, as you and your work are greatly appreciated.

I was wondering if you yourself or someone close to you has CLS? The reason I ask is because I think I am a carrier even though I have no symptoms myself, but some health problems do run in my family on the female side, including back trouble, gum disease and depression. I have always had the feeling that there is something different about me and have suffered depression and have been on medication for over a year. There may be no connection but it will always puzzle me.

Good news has come out of Shanelle’s condition, it has made me realize how important my life is and how much I really adore my children, so much so I decided to stop medication and I have been off anti-depressants for 4 weeks now! I am determined to be as strong as possible and take each day one at a time. I think Shanelle’s condition has changed me for the better.

My next concern is to get Shanelle the proper help she needs and I am going to push the hospital into giving her the extra time at the special nursery. They do have full-time places where they will spend hours rather than minutes concentrating on her needs. I shall let you know how I get on (fingers crossed!) I have enclosed the picture I couldn’t find last time.

Thank you once again for the information you sent.

Yours forever grateful,
Michelle
 

It is much easier for me to accept donations in U. S. Dollars as I have to pay a hefty fee to have foreign currencies converted since my primary bank does not normally provide that service. Cheques, postal orders, money orders, all are acceptable. I would not recommend that you send cash through the mail. Thank you for asking.

My son Davis has CLS. He is turning 14 this July. He is the reason that the CLS Foundation exists. His picture is on the home page of the CLS website at http://clsfoundation.tripod.com 

I remember reading somewhere that depression is the single largest cause of disability and was far more common that I had realized. Depression, and the other conditions that you mentioned that seem to run in your family are probably not related to CLS. - MCH

Shanelle McGloin

Up until recently, I was taking Shanelle to “special nursery” parent and toddler which is only 1-1/2 hrs weekly which I know is far less than what she needs. We have missed 4 weeks now as I have no one to look after Brandon while we attend. My health visitor arranged a nursery placement for Brandon but I have heard nothing as of yet.

When we did attend, Shanelle saw the physiotherapist approx. 3 times lasting 10 minutes each time and only saw the speech therapist once who was nice and sent me tasks to do at home. As you can imagine being a single mum with 2 children, it’s impossible to get time alone with Shanelle to do these tasks and give her the extra attention she needs. To be honest I am furious, Shanelle has had assessments which state: 1) delayed speech and language skills, 2) delayed motor skills due to poor muscle tone, 3) delayed play skills, 4) an MRI scan showed delayed brain maturity and the list goes on and on and all they offer me is 1-1/2 hrs a week to fit in all her therapists.

When Shanelle was diagnosed with CLS, I had never seen the geneticist before and haven’t seen her since. She sent me one piece of paper with a picture of a boy with a badly deformed spine and a number for a support group in Great Britain which doesn’t even exist. I get no support from my family as they are too busy and all I can say is ‘thank God’ for you, Mary! I do now have a file full of information but it’s certainly no thanks to my doctor or any other professional.

Shanelle is very loving and affectionate but bites her brothers or herself. She no longer bites me anymore unless she has a major outburst. When upset & angry she is impossible to console or comfort.

She has had approx 5 “starting” episodes in the last 2 years—last one being bonfire night., Nov 5th, 2000. She looks quite unwell and lies on the floor starting, totally unaware & looking confused for 1-2 minutes. Then she cries and is back to normal within a few minutes afterwards. Could this be the start of “drop attacks”?

This doesn’t sound like drop attacks, more like a different kind of seizure.—MCH

Shanelle loves looking in mirrors, music, playing with my hair, food (will eat anything and everything), likes baths and playing with water. She won’t let me touch her hair, hates being cleaned, especially her face. She won’t let me clean her teeth and I normally have to pin her down to clean them.

This is normal for a sensory defensive child. Usually this gets somewhat better as they get older.—MCH

Lane & Hilda Ellzey

Jacksonville, TX

Hi Mary,

Lanette Sessions (my daughter) asked me to write and tell you about our grandson, Allen Ellzey. Lanette and her husband relieved my husband and me from the responsibility of raising Allen about two years ago when I did major damage to my ankle. We are still very close to him and try to keep him as much as we can. When he was about 16 months old he had double hernia surgery. During the surgery, his airways obstructed and caused a lot of concern among the doctors at Children's Hospital in Dallas, TX. He is now 12 years old. He never wanted to be fed with a spoon but eventually overcame that by the time he was 4. He never learned to chew so everything is still mashed with a fork and he has to be fed. He does not want any part of feeding himself. He has a hard time gaining weight and now weighs about 53-54 pounds. Allen is a happy fellow, almost always laughing and has to have a TV on wherever he is. He walks and tries to run but very unsteady. He is just a skinny fellow who is never still, always fidgeting. He doesn't play but loves to watch other kids and will try to follow them . Since he is deaf he doesn't talk nor does he sign but he does get his point across most of the time. He is due to have oral surgery the 27th of this month and they will put him to sleep to do this. He has had mild anesthesia a couple of times for different tests and he has done fine. We will keep you posted on how it goes next Friday.


Hilda Ellzey