Circle of Friends

Paul and Joan Heggie

Middlesex, England

Hello Mary Hoffman,

May we please introduce ourselves to you. Our names are Paul and Joan Heggie and our youngest son Michael has CLS. We were searching for information on the web when we found your excellent site. Michael is now 13 years old. There are no support groups in the UK that we know of so it has been a very lonely experience not knowing if physical and emotional developments were common to children with CLS. After reading through your newsletters we are now able to give Michael's teachers more information on behavioural problems in particular.

Michael was born on the 12 September 1987 at Queen Charlotte’s hospital Hammersmith London. He was very small (6lb-3oz) and went down to 5lb-12oz and did not put on any weight for over a month. He was a very sickly baby and spent a lot of time in hospital with breathing and chest problems. He first saw a genetic specialist in his first year and Coffin Lowry Syndrome was confirmed at 2½ years old although the genetic specialist, Dr. Winter of Northwick Park hospital Harrow suspected CLS when he first saw Michael.

Michael started physiotherapy at 8months old and this continued until he was 2 years old and he took his first faltering steps. He was also undergoing speech therapy and using Makaton signing. Michael also had problems with his ears and had grommets fitted at 3-4 years old. He also had an operation for a hernia during this time.

Michaels back was also a major cause for concern and he was seen by a scoliosis specialist and was put into a full body plaster cast. These were put on under general anesthetic and changed every 3-4 months over the autumn and winter periods and from May to September he was wearing full body plastic braces. This continued until May 2000 when he underwent surgery to insert metal rods in his back. After the first operation, Michael contracted MRSA (the hospital bug) and had a terrible time. He was discharged after three weeks and sent home in a full body plaster cast for 6 weeks. When he went back after 6 weeks, his back was in a terrible state and he was immediately re-admitted. He was operated on 2 days later to have his back scraped and cleaned and spent the next 6-7 weeks in an isolation ward on the strongest antibiotics they could use. Michael came out of hospital and was taken of his medication last week. His back has healed well and the MRSA seems to be under control. He has another hernia and is waiting for surgery.

Michael attends a school for children with special needs and is getting on well. His attention span is not good and he finds it hard to do tasks that require fine motor skills. He started having drop attacks about 3-4 years ago and now uses a wheelchair for his own protection. His walking is fairly good apart from this. He still needs help with washing and dressing.

His speech is improving all the time although some words are very hard for him to pronounce. For example, hospital is hosterbottle and wicked witch became (and will always be to us) bicked bitch. He is a very polite, affectionate and outgoing boy who loves music, cars, computers, art, cooking and children’s programs on television or video. His favorite’s are Thomas the Tank, The Tweenies and the Teletubbies.

Michael has started to develop an emotional behavior problem when for no reason he will get very upset and cry and shout, throw things and hit out. This behavior does not last very long and he is always sorry afterwards but cannot say what has triggered the behavior.

Sorry this has been so long winded but 13 years of history is hard to get down in a few words. If there is any other information that may be of use to yourself or any other families, please do not hesitate to ask. It is nice to be able to talk to someone after so long.

Very best wishes
Joan and Paul Heggie

We hope to hear from you soon and we will also contact other families in the UK.

Tammi Lay

Perryville, MD

Mary:

Katie was readmitted again to Hopkins - this time for illis(spelling?) of the bowel. She could not keep anything down - including meds and her bowels were - the term the doctor's used were “paralyzed”. They just wouldn't move so nothing could go down either. By Wednesday, she was dehydrated again so they admitted her. She came home last night, actually more of herself than I have seen in a long time. Oxycotin - a very strong pain relief for her brachial plexus nerves was at the root of all of this, in addition to some other constipating drugs. Since she has been off of the oxycotin, I got her back. They are just going to give her neurotin and celebrex. Her doctor has been hard at work fighting the insurance company to get her into rehabilitation.

Right now, we believe, that she will begin a day program at Kennedy Krieger. We had an evaluation done yesterday. It is a four to six week rehabilitation program where she would receive physical and occupational therapy at least three times per day.

I finally broke down and took a leave of absence. I am a little worried about that, but her arm is more important. Our doctor gave a deposition on Thursday and it appears as though the brachial plexus injury was a result of the initial infection from 1998. I have read on the net about that occurring but really found it hard to believe.

Anyway, the home health agency is totally responsible for all of the pitfalls we have encountered, regardless of her syndrome, which is good. I am going to speak to our State's Attorney about prosecuting this home health care nurse on a criminal level. She really does not need to be treating anyone anywhere. Things are brighter, we appreciate your concerns and prayers. Again, Katie is stronger than Mom and has endured so much. I would not have done as well.

Mrs. Patricia McCabe

Greenwich, London

Dear Mary,

I read April 2001 newsletter and came across Michelle’s plea for any UK based charities. The Joseph Rowntree Foundation is a very good charity that deals with children with disabilities until they reach the age of 16 years of age. You can find more information about them at http://www.jrf.org.uk/ hope this little bit of information helps out Michelle.

John has been attending lots of medical appointments for his spinal problems, and he also has to go see a heart specialists, As at his school medical his nurse picked up signs of a heart murmur He has an appointment to see the orthopaedic about his feet as he is finding it very difficult to get mobile. I hope everything is fine with you and thanks once again for keeping me informed, hope to hear from you soon.

Mercedes Butts

Granada Hills, CA

Dear Mary,

It has been a long time since I have contacted you. A year ago my middle child, Matthew, was killed in a car accident and since then things have been turned upside down! Two weeks ago, Mark was diagnosed with cancer. He has two large tumors in his tummy and it is very aggressive and has spread to the bone marrow and bones. He is currently treated at Children's Hospital in Los Angeles. We had never gotten around to doing the chromosome test for CLS and now we have requested the Drs. at CHLA to do the test.

They are not aware of the test being done in the USA, I had previously contacted Cedars Sinai in LA and they had indicated that they could do it. Now CHLA is under the impression that it is only done in France, do you know of any labs that do the test in the USA?

They are afraid of the Chemo and it's stress on his kidneys and heart. Any info you can give me will be appreciated. I love your newsletters, but I have been neglectful in reading them these last few months. I am so overwhelmed with life right now!

Thanks for all you do, 

Merce

I forwarded Merce’s email to Dr. Andre Hanauer, and he referred me to a Dr. Charles Schwartz in Greenwood, SC. The following response is from Dr. Schwartz:

Thank you for your inquiry.

We have been doing genetic testing of some CLS patients and would be interested in testing other boys with CLS. However, before you begin recommending families, I will need to discuss the details with people here to determine when we would be able to meet the demand. CLS genetic testing is time consuming because the gene is large and each family has a different mutation. As such, there would also need to be some charge for the testing and I will need to determine a reasonable amount.

I am trying to arrange a system within my own group where this testing can be offered on a non-research basis so that we can cover some of the costs. As with Andre, we have a grant pending to cover other types of testing of CLS patients (cognitive, MRIs) but not gene testing specifically. I hope to be able to clarify this is the near future,

Nonetheless, I am touched by Mrs. Butts' situation, having lost a young son myself. I would be willing to accept a sample on her son for testing now. Please have her contact a Dr. John Graham at Cedars-Sinai Medical Center in LA at 310 423-9909. He is an excellent clinical geneticist and can arrange to see her son and obtain the material I need for testing.

Sincerely,

Charles Schwartz, Ph.D.

Director, Center for Molecular Studies

J.C. Self Research Institute

Greenwood Genetic Center

One Gregor Mendel Circle

Greenwood, S.C. 29646

Tel: 864 941 8140

FAX: 864 388 1703

e-mail: schwartz@ggc.org 

This is the most hopeful news that we have had yet of finding a source for CLS testing in the US. If anyone else has anything to add to this subject, please let me know.

Denise Christian 

Charles City, VA

Dear Mary,

I have been busy in and out of the doctor's office with Brandon. Brandon's sinusitis has gotten so bad that he was hospitalized in March. Two weeks later he came home and he was sick again with another sinus infection. So he went to see the Ear Nose & Throat doctor at St. Mary's hospital in Richmond, VA where Dr. Brager decided to remove his tonsils and adenoids. Brandon had to stay in the hospital overnight to be watched because of his mitral valve regurgitation. He won't be able to go back to school for two weeks.

So far so good. He's drinking a little but don't have an appetite. But the doctor said that's to be expected. I was told by one doctor that even though Brandon has the mitral valve that he still can develop the scoliosis. I was wondering was that true? Because I thought you either had one or the other.

Brandon's cardiology doctor want to know about other CLS kids who has the mitral valve regurgitation. Dr. Falterman at Henrico Doctor's Hospital noticed that Brandon heart was enlarged and “shaggy” looking but he has a good heartbeat.

Brandon has started having episodes where he gets clammy and sweaty and has a rapid heartbeat that only last for second. He has chest pains but it only last for a short period of time so the doctor can't figure out what's going on. He has had two heart monitors, one in Dec and one in Jan, and he didn't have the episodes while wearing the monitors.Dr. Falterman said it might be a seizure of the heart but we don't know that. Any information that you or other parents have will be very helpful.

Brandon also had surgery March 23rd on his feet. His feet had started to curve inward so Dr. Mogi at Children's Hospital did the surgery at MCV Hospital. He had to take bones from his leg and replace them in his heels. The surgery took three hours and everything went fine. He had to stay over 2 days. He is now having homebound schooling. He will be out for a month but he is getting around fine crawling on the floor and using his wheelchair.

I haven't forgot about the Workman family, my heart go out to you, I am so sorry to hear about the passing of Randall. God bless you and all the CLS families, we are blessed every day to have special need children. Just remember the lord don't put no more on us that we can bare, and remember don't question why every thing happen for a reason. Keep up the good work on the newsletter.

Denise Christian

It is quite possible to have a cardiac defect along with scoliosis. They are not mutually exclusive conditions.

If anyone else has any experience with mitral valve regurgitation, please contact Denise. -MCH

Barbara Bishoff

Ottowa, KS

Thank you for the back issues of the newsletter. I've learned a lot more. I've told Joel's Sp. Ed teacher about them and hopefully she'll subscribe. For seven years we've been trying to find a name for what was wrong with Joel and it helps knowing we're not alone. I have many questionsHopefully, soon we'll have a computer. I'd love to hear from other parents. I'm kind of shy, so I'll have to get over it in order to make the first move. Thanks again and God bless you and yours.

Barbara

Barbara and Mark Bishoff have three children with CLS:

Joel is mainstreamed with regular 2nd graders. He gets Special Ed OT, PT and speech. When he was younger he had sleeping problems. Plus he's VERY shy. He had hypotonia at birth. He doesn't do well with change.

He loves music. He will watch CMT for hours. He demands it. He watched that channel since he was 1 year old. I would put him in his walker and he'd calm down. He was fussy because of ear infections. He wasn't on meds until he was 3-1/2. He also loves riding in a vehicle, probably because we used to drive him around all night to get him to sleep. Of course he's a charmer and very loving. He dislikes the normal things, being told "no". Joel's a very good child, well-behaved and easy-going. My angel.

Sean gets DT, PT and speech therapies. He also goes to a play group 3 afternoons a week which is where he gets the therapy. Both boys do better away from mom.

His moods change quickly and he butts his head on things - wall, floor etc. This scares me the most. The rest is probably his age, I hope. Developmentally, he seems to be doing better than Joel.

Sean loves all of the Nick and Disney programs. He loves playing with his trucks and push toys. When we play music both boys dance. The boys also love horse play and being silly. Sean is all boy, "truck" was his first word. He also a major daddy's boy. His attitude is a problem but he's not bad all the time. When he's not being bullheaded he can be very sweet. He likes giving kisses and he'll say "Luv ya".

Erin is too young to tell how this will affect her. I pray it won't be as bad as the boys. She has some signs of CLS but I've had her screened and she was where she was supposed to be. Monday we took Sean to see Dr. Ardenger and she had a Developmental doctor come along. She checked Erin and believes her muscle tone is good.

She's very alert and loves playing. When I read to her she coos and tries to turn the page. I've overwhelmed her with developmental toys.

She just got her first tooth. Everyone says she's too young, but Joel had 2 teeth at 3 months. I'll let you know more when I know. All of the features Erin has, I had at that age.

Helen Thomas

Gosport, Hants, England

Dear Mary

I was in contact with Lindsey Nolan about twelve years ago, although I don’t think the group is still running I shall try and find out, as I live not far from Portsmouth.

Some years ago my family were part of a research project carried out by Newcastle University, England. A group of geneticist’s started to research for the gene that carries CLS, the research was backed by an American company called Welcome Foundation Trust. However, this has come to an end now, as they were unable to find the gene with the technology available at the moment.

I have three children all grown up; my eldest daughter Hazel aged 26 has CLS mildly, she works part-time in a café. My son Paul aged 23 has CLS severely although he is very active and does things for himself he still needs to be in the presence of an adult 24 hours a day. My second daughter Helen aged 22 is free of CLS completely, and is studying at university. Helen helps me send these E-mails, as I’m not too good on a computer.