We would like to inform the CLSF about GENDIA, an international network of diagnostic genetic labs (GENDIA stands for GENetic DIAgnostics) that offers diagnostic genetic tests for CLS.

The GENDIA network was formed to facilitate access to genetic tests, as in many countries genetic tests for genetic diseases are still difficult to obtain. This certainly applies to CLS as a genetic diagnostic test for this disorder is not widely available in many countries.

Nevertheless, CLS is one of the genetic diseases for which genetic testing is very valuable because most CLS patients have a mutation in the CLS gene RSK2.

GENDIA now offers mutation analysis of the CLS gene RSK2 at 630 EURO (750 USD) in the proband*. Once the mutation is found in the proband , family members can be screened for this mutation at 150 Euro (180 USD).

GENDIA now decided to give 5 % of the costs of all diagnostic genetic tests to the specific patient organisation that referred the patient.

GENDIA geneticists will also be available for counselling of the patients and their families if there is nobody available locally.

Over the past months GENDIA has informed many geneticists about its services, and now GENDIA wants to inform patient - and parent organisations such as the CLSF. The families facing CLS are nowadays well organised in patient networks defending their own rights, and we realise that these organisations form an ideal platform to inform patients about these new diagnostic possibilities and even organise diagnostic testing in those cases where it is not available locally.

Patrick Willems, MD, PhD
Director GENDIA network
Email : patrick.willems@aml-lab.be

GENDIA – Genetic Diagnostic Network
Terbekehofdreef 20
B-2610 Antwerp, Belgium
Phone : + 32 3 877 28 17
Fax : +32 3 877 29 57
E-mail : info@GENDIA.net
Web : http://www.GENDIA.net

* Proband: The affected individual through whom a family with a genetic disorder is ascertained; may or may not be the consultand (the individual presenting for genetic counseling)

Dear Members,
   I am new to the CLS Foundation. My 18 year old daughter was recently diagnosed with Coffin-Lowry Syndrome. We have lived in two states and have seen countless specialists. Every Pediatric Neurologist, Family Doctor, O.T., P.T., Speech Therapist, Teacher, etc. were interested in Ashley's seemingly unusual disabilities. But no one could give us any help in a diagnosis. Luckily, we found a wonderful Neurologist that was curious enough about Ashley's condition that he kept his ears and eyes open for any leads. He came across a small article that mentioned "drop attacks in children with CLS", he mentioned it to us and ordered a Genetic Screen. The Geneticist is certain that Ashley's symptoms fit perfectly with the diagnosis of CLS.
   Ashley has had a positive upbringing. She has enjoyed her Moderately Handicapped Special Education Classes, Church activities, Special Olympics etc. She has been very pleasant and social. However, this past Spring, she experienced a "break down" of sorts. This resulted in extensive treatment at a "Day Program" at our local Hospital's Behavioral Health Center. The Psychiatrist has called her condition "depressive psychosis." It came suddenly and unexpectedly. She has experienced delusions and hallucinations along with severe depression. We are trying to manage this with medication. And after 6 months we have seen an improvement, but she is not back to her old self. In my reading, it mentions that this has appeared in teenage girls with CLS. I was wondering if anyone has any experience with this aspect of CLS? Our Psychiatrist is one of the leading Adolescent Psychs in the State, and he has had to read about CLS in his text books. He asked if I would post this query and see if anyone has found treatment that has proven to be successful.

Rev. Marc and Julie Hayden
Indianapolis, IN

Chris Michaelson, Age 15

Hello -
   We are about to embark upon yet another attempt to find a ENT that will grant us surgery for our 15 yr old son Chris, with CLS, and severe sleep apnea. The last ENT we talked to said that having the surgery would little improve his apnea, and therefore did not recommend it. We still believe that even some improvement is better than none at all. Currently Chris needs a minimum of 14 to 15 hrs of sleep a night, and that is with the aide of the CPAP machine. Even then, by the end of the day come dinner time, he is a walking zombie and can barely function. He gets up at 5:50 each morning, and we have to have him in bed no later than 7 or 7:30 each evening. And its still not enough. And, this is no life for a teenager.
   I would like to hear from all of you parents who have had the surgery for your kids, successful or not. I need to build my case for the next ENT we see, and show him that yes, there has been success with our kids having this surgery done. Please, any input would be appreciated, we are at the end of our rope with these Dr's telling us no. Somewhere, there will be one that will grant this to us.....

Ron & Laurie Michaelsen
Manteca, CA
 

Davis had a tonsillectomy on Sept 18th. It takes about a month after surgery for all the inflammation to go down before you know for sure if the surgery will correct the apnea. It is now October 18, and he has been off the Bi-Pap for about two weeks and seems to be doing fine.

MCH

Philip Barnes, Age 17

   Six months ago as many of you know my son Phillip had surgery to fuse his back. Now yesterday 18th Sept he had to see his consultant for a check up. We have been told that the brace that he had been wearing for the past six months can come off and that he can start swimming once again. A sport that he loves had is quite good at. So after having gone through our hot weather melting in the brace, it is now no more. He has been so very good all the time and never so much as once complained about anything. Hoping that other peoples problems can be helped and find a solution too.

Fiona Barnes
Bedfordshire, GREAT BRITAIN

Bradley Lambert, Age 4

Dear Mary;

   It's been a long time since we sent you an update on our grandson, Bradley Lambert. Bradley is doing fine. His stature is now 3 feet, 4 inches and he will be five years old on April the 3rd 2004.
   He is on no medication and has had no more ear infections and no tubes in his ears in the last year or so. His motor skills are fine. He has already lost five of his baby teeth. He had to be put to sleep in order to have his teeth fixed and one extra tooth pulled out. He is still seeing a chiropractor twice a month, which seems to be helping him a great deal. As we mentioned before, the chiropractor he is seeing, treats by touch only. It's called "Network Spinal Analysis". If you would like to contact his chiropractor, his name is Dr. Steve J. Gall, and his phone number is 204-489-1600. Bradley is a very loving child, and we are very proud of him.
   His speech is the most affected to this point. He has a vocabulary of approximately 100 words. He also speaks several words in French. He will repeat just about any word after you, and learns new words very quickly. He is starting to put together short sentences. His pronunciation is not very clear, but it's improving every day. He can understands everything you tell him. He has been going to "Mini-School" twice a week since last September. He gets a one-on-one there, and he enjoys it very much. He can count by himself up to twelve. He loves music and enjoys his "Wiggles" videos and loves dancing to them. He also loves going to the amusement park, tobogganing and many other outdoor activities. We used to have a real fight on our hands when it came to cut his finger or toe nails, but he's not fighting us near as much now. He's is not potty trained yet. (Any suggestions, anyone?).
   Thank you again Mary, for your great work and support. We enjoy the Newsletters very much, they are a great help.
   We would also like to be making contact with other CLS parents or grandparents.

Lucille & Georges Lambert
Oak Bluff, MB Canada
 

Fumiatsu and Takaatsu Hirayama, Ages 7 and 11

Kanagawa, Japan

Conversation: Help in School

Shanelle McGloin, Age 5

   I’m looking for some advice on what extra help Shanelle, 5yrs, could be getting at school. I have just had another meeting with her teacher who basically has asked me to find out about CLS and learning difficulties, as her annual review is coming up where I can request extra help for her. She is in a mixed mainstream/special needs school and currently gets physio, speech therapy and is on the waiting list for an occupational therapist. She cannot do any of the work her classmates can. She has no concentration what so ever. She doesn't receive one to one but works in a small group of about 4 children. Both myself and the teacher are concerned as her classmates are beginning to realize that Shanelle is different, and isn't doing what they do. I would like her to stay at the school she is at and not have to place in in a special school, as it has took her a long time to settle in here. Is there any personal tuition she might be entitled to or any other
therapists that could help her on 1-2-1 basis? She is making progress but it is at an extremely slow pace and is simply way behind all others. If i can find out what help other children with learning problems receive, then i can put it to the school. Thanks in advance for any help you give.
 

Michelle McGloin
Cleveland GREAT BRITAIN

Dear Michelle,
   I can feel your frustration! My daughter is now 18 and considered a senior in High School in a "moderate Special Ed. Class". We finally received a diagnosis of CLS this year. We have lived in AZ and IN while Ashley has been in school. In the early days she received Speech Therapy, Occupational Therapy and Physical Therapy. All of those things helped her strength, coordination and listening skills. When the schools worked too slowly we paid for them on our own - but by law you are entitled. Sometimes you have to have a doctor's recommendation for programs and services.
   When Ashley was younger (early elementary) her skills were behind, but there is a wide range of developmental abilities and therefore her delays were not as obvious. Ashley was in a mainstream class for Pre-Kindergarten, Kind. and 1st grade. She was then placed in a "self-contained" class for children with Mild disabilities because her skills were 3 - 4 years behind. I was okay with that because I wanted a teacher that was especially trained in teaching special needs children. However, many times they have too many children with a variety of abilities. By Middle School Ashley's peers were so far ahead, even in the Mild class, that it was recommended that she be placed in a Moderate self contained class. We have continued to request O.T. and P.T. and we see the specialists on a "consulting" basis a couple of times a year. I am a teacher myself. I recommend you learn the laws of your state and become very aware of your daughter's rights. We have to be an advocate for our children. As a side note, I have found that through the years we have always received more help when we have requested things in a positive way.

Rev. Marc and Julie Hayden
Indianapolis, IN
 

   My step-daughter started in a developmental program when she was three years old. When it was time for her to begin Kindergarten she was also mainstreamed. Because she doesn't live with us full-time I can't tell you everything her school offers or what services she has available to her. However, I can tell you that Cassie seems to have made much more progress since starting in a self contained special education class. The class is small, 8-10 kids, with a special-ed teacher and a para-ed (teacher aid) so it allows for Cassie to receive closer attention, one-on-one, when she needs it. She also has a home room which is her class she goes with to art, computers, music, pe, etc. This allows her to be involved with other children who are not in her self contained class.
   My best friend is a special education teacher who has encouraged my husband and I to contact the Department of Developmental Disabilities (and Mary Hoffman also suggested this to us). It is my understanding that they will be able to give us a lot more useful/helpful information regarding services that are available. Even though my friend is very knowledgeable on what IS available she admits there is lots more out there that she is not aware of. I also encourage you to look into this as they may know of a lot more services/options for you and your daughter.
   Lastly, if your daughter is in need of physical therapy, you might check with your health insurance company. My husband's insurance pays 80% of Cassie's therapy and it has been wonderful for her. She loves her sessions as they are very "kid" oriented where she goes. I know physical therapy in the school is usually an adapted physical education class and if it is actually with a physical therapist, it's only 30 minutes a week or something really ridiculous like that!
   I know this can be frustrating and stressful at best. I maintain a pretty close relationship with my daughter's mother and she has often told me of her frustration with the school and teachers Cassie has had.

Kara Osborne-McCord
Issaquah, WA

   My son Matthew is 33 yrs old. He started in a special program at age 3 and has stayed in special classes since then. I wanted him to go to a regular school too but by the time he was of school age he was so far behind that we kept him in a special class. There he was never behind and although he still can't read and only write his first name he is a truly exceptional person.
   I often wished that he could accomplish as much as the other so-called "normal" kids but in the end he's accomplished more than we have ever really expected. If a normal class environment is not going to be the best choice then reconsider a special class. There are excellent teachers and therapists there to always help them succeed.
   When you feel as if you need more then there are advocates and special needs agencies out there. Fight for what you want for your child and never take no.
   When Matt started in a program in Texas they had never take anyone under the age of 5 yrs, but after much arguing they decided to give him a try and it so wonderful him and them. Now all ages get the help they need.! I only wish i could have started him earlier!!!!
   Here (CA) we have so many agencies available to assist us in are searches.

Barbara Westerhouse
Oxnard, CA
 

   My son, Felipe, is now 22 years old. He was on an HCS waiting list; which is Home and Community-Base Services Program (group home). The HCS program began, I believe, in 1985, and at that time the waiting list was about five years. His name did come up on the waiting list and is now living in an HCS group home (4 bed). There are several agencies that provide this service and you have to visit, talk to the various agencies and ask to speak with other parents who also have their child(ren) there. Felipe has his own room, which is great!
   There are other programs, for instance, the ICF-MR, (6 bed) group home. In this set up, two people will probably have to share a room.
   Two group home programs, one waiting list. Within these programs, come several services. In Dallas, Texas, the agency to contact is Dallas MetroCare of Dallas. They are able to share the various services available. Unfortunately, in Texas there is a 1,200 person waiting list! Approximately 10 years. I would encourage you to add your daughter to both waiting lists even though the need may not be now. We never know when our situation will change and the need will be necessary. And, we as their parents want to be able to make the decision of where our children will live to ensure that it is the best place for them. Felipe’s Dad still brings him home every other weekend and I make several surprise visits to ensure that all is good.
Also, have you applied for Guardianship for your daughter? In Texas, when an individual turns 18 and unless an application for guardianship is made through the Courts, they become a ward of the state. Thereby, the parents no longer have any say-so regarding the mentally challenged adult. I am Felipe’s guardian and must submit an annual report to the court in order to continue to be a guardian.

Gracie Sifuentez
Cedar Hill, TX
 

Mark Blyth, Age 8

Dear Mary,
   I’m writing because I would like to thank the person who collected the money to help me get Mark to London. He has been now and has had to have a plaster jacket on to straighte his back. He had it put on in September. He has to go back on the 18th of December to have it checked. As far as I know he will have to have another one on at some stage, but eventually he will have to have an operation.
   He’s getting on ever so well. He has lost two of his front teeth. He will be eight years old in January.
I still have bad days with him and since he has had his plaster on he has got more bad tempered and keeps on falling over as he is top heavy. He is saying a lot more now and I think that he is looking forward to Christmas. I just found out that his sister has flat feet now as well it may be that’s because she may be a carrier of CLS.

Jacqueline Blyth
Bedford, GREAT BRITAIN

Matthew Moxley at the Special Olympics

Andrew Ausdenmoore, Age 12

   Hello there, this is Lori Adkins. I am Andrew Ausdenmoore's mom. I have gotten remarried and have a new address (below). We recently met with a new neurologist and he mentioned he has seen two other children with CLS here at Keesler.
   Andrew is doing great! He is going to be 12 yrs old next week. He is in a regular Public School 4th grade class and receives special ed and therapies (OT, PT and Speech). Over the past year his drop spells have been getting more frequent and a little more serious with the outcome. We are waiting on an appt for an EEG to see what and if any changes going on.
Thanks for your help,

Lori Adkins
Biloxi, MS

Brett Smith, Age 19

Dear Mary,
   It's been a very long time since I contacted you but we've continued to enjoy and benefit from your news letters. Brett is now 19 years old. He still attends public high school in a special education program. Although the school has tried to do vocational training with Brett, he tends to be pretty uninterested - pretty short attention span.
   Brett is generally a healthy guy. In his younger days, he required ear tubes twice but has experienced no hearing loss as a result. Brett does have scoliosis and wore a back brace for a couple of years. The curve progression seems to have stopped since he seems also to have stopped growing at age 19. He does take meds for asthma as he has always suffered from some kind of bronchial problem or other. At 19, he is small for his age (4'10" and 96 lbs). He luckily has not been afflicted with drop attacks that seem to be somewhat common with CLS kids.
   He does experience some behavior problems which seem to be associated with his impulsiveness and lack of emotional control. We are planning to see a neurologist next week about any possible treatments for this type of behavior. Over the years, Brett has taken several drugs, such as Ritalin and Adderol, but we were not impressed with any or felt that they were of much benefit. He does startle easily which can bring on some pretty loud reactions! He is really generally a pleasant child but does have those very challenging moments!!
   One behavior that Brett does, that I have seen mentioned in other letters, is that he does compulsively 'pick' at any skin blemishes and ends up causing scabs and scars that are a problem to heal. We've gone through a heck of a lot of band-aids over the years but only for temporary relief. Compulsive behavior, like repeating things and not liking change, are definitely a challenge! I know we, as parents, are always looking for better ways to deal with our special kids but I think the one thing we all have in common is our acquired patience. This is the one thing that works the best but is sometimes the hardest to have - don't you think?
I want to thank you especially for the great service you provide for us all with your web site and news letters. I've seen the group grow so much over the years and really benefit from the knowledge of others.

Sincerely,

Steve and Sherri Smith
Garland, Texas
 

Matthew and Michael Moxley, Christmas 2003

 Madison, AL

Thanks for Caring!

The following families or individuals have recently made generous donations to the Coffin-Lowry Syndrome Foundation:

Maddie & Bob Klein
Olney, MD

Hal & Pam Leibel
Lakeside Auto & Paint
Lino Lake, MN

Hilda Ellzey
Jacksonville, TX

Kaoru & Hiroatsu
Hirayama
Yokohama-shi Kanagawa, Japan

Send your donations to:

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

One of the members of CLSF has just left the group as her daughter has been re-diagnosed with Cohen syndrome. Since Cohen syndrome has characteristics in common with CLS, I am including a brief description here in case the syndrome strikes home with other parents. The syndrome can present with tapered fingers.

Source: http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=240 

Cohen syndrome
Norio syndrome
Pepper syndrome

Cohen, M. Michael, Jr. (Canadian oral pathologist and human geneticist, born 1937)
Norio, Reijo (Finnish human geneticist)

Summary: Obesity and hypotonia in association with delayed mental development, characteristic facies, and slender hands and feet. The syndrome is divided into two forms: one which is manifested by the symptoms as outlined by Cohen and the other characterized by chorioretinal dystrophy, leukopenia, and lack of obesity, known as the Norio syndrome. The syndrome is sometimes is referred to as the Pepper syndrome after the affected family. Mirhosseini-Holmes-Walton and Cohen syndrome share many common characteristics

Head and neck: A mild to moderate microcephaly is present in about half of all case but macrocephaly may occur in other cases. Hypoplasia of the maxilla associated and mild micrognathia are usually associated. The upper midface has a narrow appearance.
 

Eyes: Downslanting palpebral fissures, retinal colobomas with or without microphthalmia, myopia, hemeralopia, constricted visual field, optic disk atrophy, chorioretinal dystrophy, strabismus, and retinal pigmentary abnormalities
 

Nose: Short philtrum and high nasal bridge.
Mouth and oral structures: Open mouth, exposed upper gingiva, prominent central incisors, arched and everted upper lip, and high and narrow palate are the main oral features.
 

Hand and foot: Slenderness of the hands and feet and syndactyly of the fingers may occur in some cases.
 

Extremities: Slender arms and legs due to a decrease of muscle mass, cubitus valgus, and hyperextensibility of the joints occur in about half of all cases.
 

Spine: Kyphosis and kyphoscoliosis are believed to be caused by severe hypotonia.
 

Cardiovascular system: A small number of cases present heart defects which include floppy or prolapsed mitral valve and ventricular septal defect. Early systolic murmur usually disappears later in life.
 

Hematopoietic system: Occasional leukopenia.
 

Growth and development: Mental retardation is a constant feature and growth retardation occurs in most cases.
 

Behavior and performance: Muscle hypotonia exists from infancy and persists into adolescence. Delayed puberty occurs in most instances.
 

Heredity: The syndrome is transmitted as an autosomal recessive trait and both familial and sporadic cases have been reported, some of which include children of consanguineous marriages. The gene has been mapped to long arm of chromosome 8.
 

Epidemiology: Early reports indicated a relatively frequency in Ashkenazi Jews but later the syndrome was found to also occur in the Finnish and other populations.
 

Additional features: Obesity occurs in many but not all cases.