Circle of Friends

Reading the things I've found on the internet about Coffin-Lowry is like looking at a picture of my son. He has many of the characteristics that are described. The drop attacks that have gotten progressively worse, we use a wheelchair for him just for his own safety. He has fallen in our bathroom and caved in a portion of the wall. Luckily he didn't injure himself. He has caved in a wall in my mothers bathroom as well as our hallway. He crawls or uses a walker unless assisted by someone. His fear of walking is intense. He has had many injuries due to his falling in the past. He is the most loving person most of the time.

One of the things that does not pertain to him is his size. He is almost 6' tall and heavy. This is such a relief to me to finally have a diagnosis for him. It has been a long time of wondering and doctoring and testing. Fighting with the doctors to proceed and find out what really is going on with him. Sometimes I don't understand why doctors are so reluctant to research when something is staring them right in the face.

Kevin has one more year of high school so at least I can save the expense of child care for him this summer. I have been an advocate for the disabled since Kevin was first diagnosed as mentally retarded at the age of 3. I helped our county get started with the Family Support Program along with a few other parents. We have been on the advisory board for this since its inception. I am also a member of our board of education for the Port Washington Saukville School District, in part because of Kevin and my daughter who is learning disabled. She is now out of school and doing quite well. She is still living with us but will be getting married next July. I would be happy to speak to any parent about Kevin and/or their situation.

Thanks for your help!

Matthew Hawthorne, Age 7

Dear Mary

First of all I would like to thank you for a nice intro to the CLS foundation.

At 3 months old Matthew started taking seizures. He had 14 in one day, that’s when everything started. Matthew didn't walk until he was 2 and a half, he has no full speech just a few words but we can understand him.  We were constantly up and down to the hospital with him, but over the past few years things have settled down. 

We were always wondering what the diagnosis was for Matthew until I wrote to his GP requesting that he see a Geneticist. All was arranged and Matthew was diagnosed on July 17, 01. 

Matthew is now 7, attends a Special Care School. He's still in nappies and shows no signs of toileting. As you know we live in Northern Ireland and were told by the geneticist that we were only the second family in Northern Ireland to be diagnosed with this syndrome. We feel very isolated as this is very rare, but thanks to the Internet we can make lots of contacts with other families.

Matthew is very outgoing, loves music, dancing, eating, buses, cars and has a very loving and caring nature. I work as a Care Assistant in a Day Centre for Adults with Learning Disability, Christine my wife is a homemaker. Matthew has 1 brother Daniel who's 4, and 1 sister Rebekah who's nearly 2. If anyone would like to know more about Matthew don't hesitate to e-mail us or write.

Bye for now

Mark and Christine

Aida L. Lauricella

Long Beach, NY

Alexander R. Hammerstein, Age 19.

My son Alexander is a very well-adjusted, happy-go-lucky child who has no fears. He's very affectionate and wants to please those around him. He loves music and dances whenever the mood strikes him. He's always moving (though not hyper). He's a joy!

We recently had a choking episode which had us running to the hospital. It appears that he has a herniated sac in his esophagus. Sometimes when he swallows, the food goes down the wrong way and he chokes. The ENT (ear, nose and throat) specialist had to anesthesize him in order to remove the food lodged in his throat.

Alexander also has had a front and back spinal fusion (Nov. '99). He rebounded miraculously. After 8.5 hours of surgery and 5 days in intensive care, he walked to the amazement of the hospital staff and everyone who witnessed this miracle. It took him about 1 month after surgery to get back to his normal schedule of activities.

As far as grooming is concerned, it is very difficult for him as his fine motor skills are not too well formed. Though he tries very hard and has had OT and PT since he age of 2, his movement is still difficult when required to use fine motor skills. Alexander needs assistance in everything when it comes to grooming. However, he will model new clothes (I guess his vanity is showing). He doesn't enjoy being dirty (not even as a baby).

Another major problem is Alexander always picking his skin. He suffers from psoriasis and is constantly picking, never quite allowing the scabs to heal. Does anyone know of anything I can do about that?

Alexander is a social butterfly. Probably takes after me. He loves people. We entertain a lot. He's included in everything we do. I try to give him no limitations unless I feel he might hurt himself. Being in NY, there's always something to do. He loves music and dancing, going to restaurants, seeing the family, car rides but most of all his dog,

Maddie.

Larry & Theresa Moxley

Madison, AL

Hello Mary!

Hope you are doing well. The newsletters are great. They are my information hotline. Several of the professionals we work with read them and use them as well, to provide the best care for Matthew.

I was wondering, could you tell me the percent of people you know who are diagnosed with CLS who also have a hearing Impairment? Is it 50% or less than that?

We started school last week.  Matthew moved on to 2nd grade. He was excited - they get their own desk in 2nd grade. One of the 2nd grade teachers requested him to be in her class! That was really exciting for us. I hope Davis will have a good school year.

Take care.
Theresa

I have a total of 13 children registered with CLSF who have reported hearing loss, usually sensorineural deafness. This is out of the roughly 180 families in my database, so the percentage is relatively small, around 7% —MCH

Sheri Barber contacted me regarding a recent episode when Dylan stopped breathing after anesthesia. —MCH.

Sherri Barber

Holly Hill, SC 

Dear Mary,

Dalton & Dylan both seem to be ok, for now . They both seem to have a cold and a sore throat, it tough when they cannot tell you what hurts, but we can normally tell. The real big problem I find is when they have a drop attack and they hurt themselves and they cannot tell you exactly what hurts.

Dylan goes back to the orthopedist on the 1st. We are still having night mares about the episode and still a nervous wreck, guess it will take time. Hope everything is going well with Davis.

Sheri
 

Ila Alldredge

Minden, NV

Mary,

Zenny and his family have moved to Lutz, Florida but their email address is still the same.

Zenny's heart condition continues to deteriorate but the lower altitude has helped temporarily. He has really hung in there---much longer now than was originally believed. He has become a quite grown up thirteen year old.(April 28th) He will be having another little brother in about four months. We really appreciate all you do. Thanks so much!

Ila Alldredge

Helen Thomas

Gosport, Hants GREAT BRITAIN

I have a son aged 23 with Coffin Lowry Syndrome. We live in England and know quite a bit about CLS but want to know more. I have three questions to ask you: 1. Is there a contact group in England, to help give more information? 2. Is there a recorded age for the oldest person with CLS? 3. Is there going to be any more research done in England or America in the future? Any information would be most appreciated.

Thank you

Mrs Ann Thomas

Try Mrs. Lindsey Nolan, Coffin-Lowry Syndrome Support, Group 23 Harcourt Road Copnor Portsmouth, HANTS P01 5RQ I don’t know if she is still active. 

I don't know that there is any "official" oldest person with CLS. In my database, of the people for whom I have birtdates on record, Charles Corbiere is the oldest at 57, although I have heard of others who are older. I have three individuals in my database in their 40’s.

Bear in mind that CLS is not well known, and was only identified in the early 1970’s and that there may be older people out there with CLS whose families have given up looking for a diagnosis long ago, or whose parents have passed on.

Yes, research is going on all the time somewhere in the world. I make my readership aware of anything I find out and encourage them to submit anything they find out to me.—MCH

Kim Dabe

Ashland, KY

Lucas David Dabe, Age 4-1/2

Lucas is the 4-1/2 year old son of David and Kim Dabe. He has a sister, Jerrica, and two brothers, Dustin and Aaron McWorter.

Lucas came home at 5 months old. He was on oxygen for 1 year and breathing treatments for 2 years. He has BPD (brochial pulmonary dysplaysia), asthma and emphysema.

His first year and a half home he was frequently in and out of the hospital for respiratory problems. He is doing really well now.

He also had right ingranol hernia which he had surgery on that twice at 6 months old. Also had tubes put in his ears at 2 years old.

Lucas started Head Start on 9/5/01. He is really doing well. He sits at the regular table and chairs while eating with other kids (usually eats in highchair)

Lucas received speech therapy 2x weekly for 30 minutes each, PT weekly for 45 minutes, and OT weekly for 45 minutes. We are really satisfied with everything therapy does. Therapy balls tend to do really well for giving him more exercise to hold his head up.

No behavior problems. Mentally & physically he is one year old. He likes his brothers and other children, swimming, bye-bye, game shows, cars (toys), being outside, eating, pets. The only thing he does not like is carrots.

Overall, Lucas is a very happy child. He is very determined, if there is something he wants, he does not stop until he gets it. The only time he fusses is when he is ready for his nap or at bedtime. He is always laughing and smiling.