CLSF News 

Symptoms include:

	Watery diarrhea (at least three bowel movements per day for two or more days)
	Fever
	Loss of appetite
	Nausea
	Abdominal pain/tenderness

If you are infected you can spread the disease to others. However, only people that are hospitalized or on antibiotics are likely to become ill. For safety precautions you may do the following to reduce the chance of spread to others:

	Wash hands with soap and water, especially after using the restroom and before eating;
	Clean surfaces in bathrooms, kitchens and other areas on a regular basis with household detergent/disinfectants.

Circle of Friends

Privacy Statement:

Personal contact information only appears in the hard copy of the newsletter, not on the web site. The newsletter is mailed to CLS families without internet access and a small group of medical professionals and others with direct involvement with CLS. CLS does not share its mailing list with any other agency or business.

Introducing Moritz Tanner, Age 18

Moritz Tanner is an 18-year old young man with CLS living in Switzerland. He has no other relatives with CLS. —MCH

Moritz is a gentle, happy person who gets along with everyone and wants to help.  He loves to be needed and likes to help those who are more handicapped than himself.  He now is 18 years old and in Switzerland,  he is no longer allowed to go to school.

He now works at a supervised candle making factory with other handicapped individuals.  It is a normal 40 hour a week work schedule and soon he will be able to continue his occupational therapy once a week. 

He is able to dress himself, brush his teeth,  eat, take the bus alone, work the TV, computer, mobile phone, etc.  He is a good skier and is able to ride a bike. 

He was recently diagnosed with Coffin Lowry, so it is all new to us.  It was a spontaneous mutation and  therefore, we do not have anyone else in the family with this disability. 

He is  the middle child with an older brother and a younger brother. We speak English at home and they all go to  French school.  My husband is Swiss-German and therefore, German is also part of our life.  I am Chinese American, so we are a mixed family and have lived mostly in Switzerland but have been to the US for one year and Malta for 4 years.

We have always pushed him to try to do things like his brothers.  He is always willing to try and does many tasks on his own.  If necessary he  will ask us to help.  He has weak hands, so we help cut his meat and to cut  his nails. 

He is able to live independently at a home of handicap individuals. He takes his own shower, bathroom, etc.

Moritz was tested by our university hospital in Lausanne, Switzerland ( CHUV) and his blood test was done at the university hospital in Strasbourg, France.  Because he tested positive for this mutation, they also did a blood test for me.  They found that I was not the carrier for this mutation in my X chromosome, so it was diagnosed that his CLS is from a spontaneous mutation or an act of nature.  I would be happy to share with you other information if it helps other families to compare or learn more about what we have been doing or learning. 

This genetic testing was done this march 2007 in Strasbourg and we found out in October 2007.

Eva Tanner, SWITZERLAND

(The picture shown was taken about 4 years ago.)

Kelly Gallagher Selected as Feature Artist

http://www.angelboyart.com/

Kelly Gallagher, 16, of Williamstown, Massashusetts is an emerging artist from the Berkshires, world-renowned for its famous artists (Norman Rockwell, Stephen Hannock), galleries (Mass MoCA, Clark Art Institute), dance (Jacobs Pillow), and music (Tangelwood). Kelly's first major piece is "Razzledazzle", an acrylic on canvas that required over 40 hours to complete. Prior to completing this piece his dad says that "most of his paintings were constrained by his limited use of color and lack of flair."   In retrospect, Kelly simply had not been expanding his artistic horizons in his day-to-day work. Dad says that Kelly may not have been confident to take more risks with his brush. About one year ago Kelly changed all of that - and here-in lies the unique aspect of Kelly Gallagher.....It has been said that artists are attuned to color, line, texture, shading, touch, motion, seeing and hearing in harmony. Did we mention that young Mr. Gallagher is legally blind?   Kelly's present work demonstrates the amazing quality of his painting, with a skill level much farther advanced than his earlier work. His dad says that "Once he let loose he used more paint, big, bold slashing strokes and bright, rich color." Kelly's work also has a very delicate quality, a softness that begets his attention to detail. Safe to say that the senses of artistic individuals seem more keenly tuned than those of others.   When complimented on his work Kelly responds with a hearty, "OH MAN!"

Angel Boy Art Incorporated is a nonprofit private foundation dedicated to exploring the myriad of ways art can benefit special needs children and their families.

Angel Boy Art Incorporated has three main goals:  To help children with special differences flourish, communicate and express themselves through art; To raise money for special needs children and their families by selling their art; and To raise public awareness about special needs children and break down the stigma that a handicapped child cannot communicate.

Introducing...Minas Kolanian Neto, Age 18

Minas Kolanian Neto was born January 20th, 1990.

We are from Brazil, and we would like to have contact with other families that have to deal with this syndrome, to know more about it and to share experiences.

In Brazil there are not many researches and people or doctors who know the diagnosis, so we went to Boston, 10 years ago, in the Boston University School of Medicine and the doctor Aubrey Milunsky gave us the diagnosis, but at that time there wasn`t the genetic laboratorial exam.

Minas has scoliosis and severe sleep apnea.

I am very glad to know that there`s a website like http://clsf.info to let me know more about my son’s syndrome. He is 18 and he is very social, cheerful and smart. He illuminates our lives.

Daniel and Maria Helena Kolanian, BRAZIL

Introducing...Luke Colman, Age 2

Luke Colman is a 2 year old boy living in Arlington, MA who was just diagnosed.  He is a delightful toddler who loves playing with his cat and his big sister, Natasha, age 8.  He is cruising and walking with a push toy.  He has just started to say a few  words.

His mom, Jill, is interested in corresponding with other families.

Jill Colman,  Massachusetts USA

Federico Coronese, Age 13

Hello Mary,

I'm Massimo Coronese from Italy. Excuse me for my slowness to answer you, but I had some problems lately. My child is well, he is thirteen years old.

Thank you for news about CLS. In these years my child had good progress. He walks with tutors and stays at school during the morning and sometimes in the afternoon. He eats anything and he is a happy child.

I send you a photo of Federico's birthday.

Bye bye from Massimo and Federico

Massimo Coronese, ITALY 

B. J. Myers, Age 18

B.J. will be 19 in April. The positive things that are happening is that he is still the happy boy he has always been. He loves to listen to his MP3 player, and play his drums. He just bought himself a I-Dog and loves to make it dance.

Mentally he his learning more everyday. He can recognize about 25 sight words. He starts conversations with the people he knows, like ‘you going to work, dad’ or ‘dad, you going fishing today’. He also ask his dad when he comes home if he caught a muskie?  It is so great to see and hear him interact with others and talk to them.

Physically he is going downhill. His chest protrudes badly. His legs can not go straight no matter what we do. He does therapy every day and we exercise him constantly but it does not help. He can barely crawl any more.

If we hold him up some he could walk some, but he can not do that now. His left leg turns out and he is so weak from the waist down it is heart breaking. When he sits he will lay on his right side he can not sit straight with out leaning. We are constantly repositioning him to get him to sit straight. His hips and shoulder are off.

He still attend public school in a self-contained class. He is doing well and we are starting the transition from school to a program through Greene ARC next year and it will continue until he graduates. He then will attend Greene ARC full time if all goes well.

Thank you for everything do.

David and Kathy Myers, Pennsylvania, USA

Pneumonia vaccine available

Source: http://www.medicinenet.com/pneumococcal_vaccination/article.htm

The last time I picked up a prescription for Davis, I noticed a sign on the counter that read, “Flu Shots—$10, Pneumonia Shots—$40”. I had not heard of pneumonia shots, so I asked the pharmacist, a small, sincere man, what the difference was. He said, “The flu shot is for flu and the pneumonia shot is for pneumonia.” 

OK, so I phrased the question poorly. Anyway, what I meant to ask was how it worked, because the flu shot is for flu viruses, and pneumonia can be either viral or bacterial. He then said it was only for the bacterial type, and the protection lasted for years. If your child is prone to pneumonia like mine is, this may be of interest to you. When I got home, I did some research on it. What follows is an excerpt from the link shown above.—MCH

Medical Revising Author: George Schiffman, MD
Medical Revising Editor: William C. Shiel Jr., MD, FACP, FACR

What is pneumococcal vaccination?

Pneumococcal vaccination is a method of preventing a specific type of lung infection (pneumonia) that is caused by Pneumococcus bacterium. There are more than 80 different types of pneumococcus bacteria–23 of these are covered in the current vaccination. The vaccine is injected into the body to stimulate the normal immune system to produce antibodies that are directed against pneumococcus bacteria.

This method of stimulating the normal immune system to be directed against a specific microbe is called immunization. Pneumococcal vaccination is also referred to as Pneumococcal immunization.

Pneumococcal vaccination does not protect against pneumonia caused by microbes other than pneumococcus bacteria, nor does it protect against pneumococcal bacteria strains not included in the vaccine. It is reassuring do note that of the 80 different serotypes, the vast majority of infections are caused by the 23 serotypes contained in the vaccine.

How is pneumococcal vaccine administered?

The pneumococcal vaccine is given as one dose for most people. The vaccine is injected as a liquid solution of 0.5 mL into the muscle (intramuscular or IM), typically deltoid muscle, or under the skin (subcutaneous or SC). The area injected is typically sterilized by rubbing alcohol onto the skin prior to the injection.

Persons vaccinated prior to age 65 should be vaccinated at age 65 if five or more years have passed since the first dose. For people with lack of spleen function (such as in sickle cell disease or after spleen removal), transplant patients, patients with chronic kidney disease, immunosuppressed or immunodeficient persons, and others at highest risk of fatal infection, a second dose should be given at least five years after first dose.

Vaccination of children recommended

In July 2000, the American Academy of Pediatrics (AAP) and the CDC jointly recommended childhood pneumococcal immunization, since pneumococcal infections are the most common invasive bacterial infections in children in the United States, causing about 1,400 cases of meningitis, 17,000 cases of blood stream infections, and 71,000 cases of pneumonia every year in children under age 5.

The new AAP/CDC guidelines stipulated the use of the newest form of the pneumococcal vaccine, the heptavalent pneumococcal conjugate vaccine (PCV7) and recommended it "for use in all children 23 months of age and younger. Although other pneumococcal vaccines are available, PCV7 represents the first pneumococcal vaccine approved for use in children younger than age 2. The policy recommends that PCV7 be given concurrently with other recommended childhood vaccines at 2, 4, 6, and 12 to 15 months. The number of PCV7 doses required depends upon the age at which vaccination is initiated. The vaccine was also recommended for all children 24 to 59 months of age who are at especially high risk of invasive pneumococcal infection. This includes children with sickle cell disease, human immunodeficiency virus (HIV) infection, and other children who are immunocompromised." 

Worried about drug interactions?

http://www.drugs.com  has a great page for researching drug interactions. 

From their site:

“Drugs.com is the most popular, comprehensive, and up-to-date source of drug information online. Providing advice on more than 24,000 prescription drugs and over-the-counter medicines for consumers and professionals”

The Drug Interactions Checker allows you to type in the medications that you or your child is taking, and then presents you with a list of the possible interactions that those drugs can cause with each other. For example, there are 1,245 other drugs that are known to interact with Depakote. 

It will even show you what foods can cause adverse reactions with those same drugs, or foods that may limit their effectiveness.  Did you know that Risperidone oral solution is not compatible with either tea or cola?

See http://www.drugs.com/drug_interactions.php 

Sodium Oxybate and CLS

Another option for Drop Episodes

About 10% of people with CLS experience drop episodes.  Drop episodes are a sudden loss of muscle tone, often triggered by an unexpected touch, movement or noise. Drop episodes can be debilitating.

Treatments include clonazepam, tiagabine, felbamate, selective serotonin reuptake inhibitors, and tricyclics, with varying degrees of success. A recent case study report in Pediatric Neurology describes a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram. He was given a trial of sodium oxybate. There was complete cessation of these drop attacks within 1 month of achieving the full dose, and the patient has been well-controlled at this dose for 1 year, with no further events. The patient experienced vomiting as a side effect of the medication, which was controlled with the use of ondansetron.

 It is not clear at this time why sodium oxybate is effective in treating drop episodes associated with CLS.

Sodium oxybate is another name for GHB, a substance that is often illegally sold and abused, especially by young adults in social settings such as nightclubs.

GBH is a highly regulated and controlled substance currently approved since 2002 in the United States for the treatment of cataplexy in association with narcolepsy. It increases slow-wave sleep, decreases nighttime awakenings and arousals, and improves sleep efficiency. 

Sodium oxybate is not without risks.  If you take too much sodium oxybate, you may experience life-threatening symptoms including seizures, slowed or stopped breathing, loss of consciousness, and coma. It is possible to develop a dependency on sodium oxybate. After taking BGH for a period of time, withdrawal symptoms may also occur if you suddenly stop taking it.

Sodium oxybate may cause serious side effects even if it is taken as directed. It should not be taken with antidepressants; medications for anxiety, mental illness, or seizures; sedatives; sleeping pills; or tranquilizers.  It may not be appropriate for people who have sleep apnea,  lung disease, difficulty breathing, seizures, or depression.

Sodium oxybate is not available at retail pharmacies. A special program is in place to distribute the medication and provide information about the medication. Your medication will be mailed to you from a central pharmacy after you have read the information and talked to a pharmacist.  More information can be obtained at the FDA website: http://www.fda.gov/cder/drug/infopage/xyrem/medicationguide.htm.

Sources: Treatment of Drop Attacks in Coffin-Lowry Syndrome With the Use of Sodium Oxybate Navasuma Havaligi, MD, Chandra Matadeen-Ali, MD, Divya S. Khurana, MD, Harold Marks, MD, and Sanjeev V. Kothare, MD Pediatr Neurol 2007;37: 373-374.

Medline Plus listing on Sodium Oxybate

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

Hiroatsu and Laoru Hirayama, Japan

Robert & Madeleine Klein, Maryland, USA

Judith Fried and Robert Scowcroft, California, USA

Jack & Debbie Write, California, USA

On behalf of Scotty

 

Grange S. Coffin, California, USA

 

Tina and Bryan Duff, Washington, USA

 

R. McCord, Missouri, USA

Send your donations to:  

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

Donations are tax deductible.  EIN 20-3377465 

"Be who you are and say what you feel, because those who mind don't matter, and those who matter won't mind."

~ Dr. Seuss