Did you know?

Even babies can feel pain.
Even young children can communicate and describe their pain.
When strong pain medicines (narcotics) are used for pain, addiction rarely occurs.

Your child often has some pain from surgery, injury, disease, procedures (such as needle pokes), or the side effects of treatment. Sometimes the pain is brief (acute) or may last a long time (chronic). There are many ways to reduce pain and provide support.

Sadness, fear and worry can make pain worse. Pain can also increase when a child feels a lack of control, is tired, or is in a strange new place without their family.

Every child reacts differently to pain. Your child may be quiet and less active or restless and easily angered. He may lose his appetite or change sleep patterns.

For toddlers up to age 3 years, or Developmental ages 1-2 years—use the FLACC (Faces, Legs, Activity, Cry, Consolability) Pain Rating Tool. (below). Rate child in each of the five categories, add together, and write down the total pain score (0-10).

For ages 3 to 7 years, you can use the Wong-Baker FACES Pain Rating Scale.

Point to each face and read the words to describe how strong the pain is. Ask your child to choose the face that best describes their pain and record the number.

It is best to use medicine to keep pain away, not to “catch up” with pain that is already severe, so it’s best to give pain medicine regularly. For example:

After surgery pain medicine is often ordered every few hours. This schedule might be kept up for 3 or 4 days after yoru child goes home depending on your child’s needs. A numbing cream (EMLA ®) can be put on the skin one hour ahead of time for IV (Intravenous) lines, blood tests, or port access, if the procedures do not need to be done on an emergency basis. EMLA ® cream may help reduce the pain of the poke in some children. Sedation may be recommended for select procedures. Talk with your child’s care team.

The amount of medicine depends on your child’s weight, type of pain, and health. Medicine for mild pain is most often given by mouth. Acetaminophen (Tylenol ®) or ibuprofen are often used for this type of pain. They work very well to control pain, even pain after surgery. If these are not effective, a stronger type of pain medicine such as codeine or morphine may be prescribed. From mild to severe pain, a combination of medicines is often used to promote comfort. It is important to work with your care providers to choose the pain medicines that will work best for your child. Even common over-the-counter medicines sych as Tylenol ® or ibuprofen have the potential for interaction with certain prescriptions or medical conditions.

Other strategies: Along with medicine, it is very important for you, the nurses, and other staff to use “behavioral” methods or comfort techniques to help relieve pain. These include:

Controlling pain is very important to promote healing. Research shows that short term use of narcotics or other pain medicine in children does not lead to addiction. Some children who need long term pain control may become tolerant (or get used to the medicine) and higher doses of pain medicine. When the pain is better, the dose of pain medicine is slowly lowered rather than stopped suddenly in order to prevent discomfort from withdrawal.

All narcotic pain medicines may have side effects. These can include nausea, vomiting, itching, constipation and sleepiness. Medicines will be ordered to treat side effects if they occur.

Your biggest job is to support your child: be his or her coach, provide comfort and reassurance, and help discover what works best to give your child relief. It is helpful to:

Your child will hopefully be able to get through unpleasant medical tests using pain control strategies including his own coping skills. If your child starts becoming anxious, you can:

Our son, Jeremy, has recently been diagnosed with CLS. He was adopted from birth and we have ongoing contact with his birth mother, his maternal grandparents and his biological siblings. We suspect CLS in his siblings and birth mother, and are arranging for the tests to be performed to confirm this.

We are beginning to learn about the syndrome. We have had one session of genetics counseling here at Toronto's Hospital for Sick Children. In many ways, they are telling us what we already know.
We have been treating Jeremy's symptoms since he was one. Sensory integration OT, speech therapy, hippotherapy and aural processing therapy have helped on a number of levels: balance, gross and fine motor development, motor planning, low-tone, self-confidence, etc. etc. We have also used naturopathy successfully to bolster his immune system at an early age. He was prone to frequent lung and ear infections as a baby, which we were able to clear up in his second year. We have an excellent pediatrician and have been frequent visitors to Sick Kids' for tests and consultations over the years.

Jeremy is under the care of various specialists, most of whom have rarely if ever encountered CLS. As this is a syndrome, I assume various symptoms are related somehow in a dynamic way.  Reading the newsletters has been an education. One thing I've noticed is that few folks have turned to alternative medicine for help. We never gave much credit to naturopathy until it cured Jeremy's respiratory problems so well. We now look to conventional and other approaches to see what might work. We are interested in making contact with other CLS parents in our area. I look forward to getting to know everyone. Thanks for making it possible for us to find one another.

Alan and Diane Engelstad
Toronto, Ontario, Canada
 

Hi Mary.

It has been a long while since you have heard from me. John "Bubba" is still going strong. They detected a heart murmur at his last doctor visit. I have to schedule a new appointment. He is in second grade special education. He can not sit still long enough for anyone to keep his attention. He amazes me still. I feel lucky sometimes. I read the stories in the newsletter and I am grateful for each day I am given. We are now stationed in Mississippi. So I thought I would give you our new address.

He can ride a bike and he loves to skateboard. I pray that he never gets really sick from the syndrome. That God give him the time we need with him. I know he will never be a doctor or lawyer. Just a chance for at least a normal life. My heart goes out to all the parents and children stricken with this syndrome.

Sincerely

Debbie McCasland
Gautier Mississippi

Hi

My name is Cruz. I have a three year old son that was just diagnosed with Coffin-Lowry Syndrome. He is developmentally delayed. He does not talk, but seems to understand. He started to walk after the age of 2. He has just transitioned from Early intervention to 1/2 a day of school.

He was diagnosed with sleep apnea in 11/02. He was only getting 68% oxygen to his brain when sleeping. In February 2003 he had his adenoids and tonsils removed. We also believe that he had 2 episodes of drop attacks. He has 2 heart murmurs that do not need further treatment as of this point. He has lost 3 teeth prematurely. He has hypotonia, abnormal bone structure, missing ribs, and abnormal chest.

We just recently had an appointment with the endocrinologist, and they tested both his growth hormone level and thyroid level. Both were normal. The reason for the study was to determine why he is so small.
The doctor said that even though his study results were normal that he could still have growth hormone therapy. The reason he can have the therapy is that he stopped growing at 7 month gestation. My question is that do you believe that he should have the growth hormone therapy and if it would benefit him? Is there a case where a child with Coffin-Lowry Syndrome has received G.H.P.

Cruz and Angel Vargas
Allentown, PA
 

Our son, Matthew started on growth hormone therapy (Humatrope) when he was 3-1/2. He was on it for three years. We decided to stop, for several reasons. Mainly, he was having so many behavior problems, we thought we would give him a break for while. It was about the same time that we discovered he had a considerable drop in his hearing (he already had a severe hearing impairment) and became a candidate for a cochlear implant. With this surgery (Jan. 2001), we thought we would focus on his hearing and let the growth hormone slide for awhile. Also, over the last three years, Matthew's drop attacks have been increasing. We can't help but think that the bigger he gets, the harder he will be falling.

The growth hormone definitely worked. We saw a drastic improvement in his growth. It wasn't much fun though. We gave him nightly (6 days a week) injections. Also, the drug was very expensive. It was an exclusion to our health insurance, so we had to petition the insurance company to cover it.
We wrote may letters and finally got it approved.

We still see Matthew's endocrinologist every 6 months (every 3 months while on the growth hormone). We talk about putting Matthew back on the hormone therapy just about every time we see him, but we aren't really sure what we are going to do. The doctor says he will support us with either decision. We are still dealing with several behavior issues and the continuing drop attacks. Maybe we will, but I don't really know now. He is growing some, but now much.

Larry & Theresa Moxley
Madison, AL

Matt Young, Age 33

Matt still has the drop attacks. Nothing has helped and he has refused to walk.We can find nothing physically wrong and he is now always in a wheelchair. We figure he was too afraid of falling and hurting himself or me as he has done so many times before. He is over 6 ft tall and weighs close to 200 lbs. The doctors do not feel he is overweight although I do watch his diet as much as possible due to his cholesterol, which was 800, and now is a comfortable 153 controlled with Lipitor, Trico, Zetia and diet.

He recently was diagnosed with diabetes, 600, and it is now 123 to 154 controlled with Glugophage and diet. Getting his diabetes under control had also helped his cholesterol as they are linked.
His last ear operation, in 99, at the House Ear institute in Los Angeles has really helped him. He no longer has ear infections. They removed all the bones, eardrum, mastoid and a cholesetoma behind the mastoid. He now can’t hear in that ear but that is minor compared to the infections and the 3 bouts of meningitis he got from the infections.

He is in a program now that he likes. Unfortunately there are very few jobs for the clients here, especially non-ambulatory one. He goes to college each day. He is taking classes in weight training, which he loves. Last semester he took swimming, which he tolerated..LOL Other than that he is great!!!
Are there any other CLS patients Matt's age? Especially older ones. I could use some input from someone who has a child his age, so far everyone seems to be so much younger than he.

Lucas was born premature and weighed only 1lb 11oz at birth. He was in NICU until age 5 months. He had tubes in his ears, 2 hernia repairs and was in the hospital numerous times for respiratory problems during his first year. He was also oxygen dependent.

He started walking at age 3. He is now age 6 and very small for his age. He cannot talk yet but can understand most of what is said to him, Like “bring me your shoes" or “Do you want me to rock you". He is a very loving and happy child. He loves to hug, give kisses and being rocked to sleep. He climbs out of his crib now and is going to get a hospital crib that he can't climb out of. He is not potty trained yet, but loves to take his diaper and clothes off. He has been in Head Start for the last 2 years with a one-on-one aide. He got his first tooth at 3 months when he weighed only 3 lbs. He lost his first tooth at age 3. He has lost a total of 4 teeth with no permanent teeth in yet.

I would to hear from other parents or grandparents of children with CLS.

Rita Roberts
Ashland, KY
 

Genetic Testing for CLS Now Available in U.S.A.

GeneDx, Inc. is now offering molecular diagnostic testing for Coffin-Lowry syndrome. For more information, contact:

Sherri J. Bale, Ph.D., F.A.C.M.G.
President and Clinical Director GeneDx, Inc.
207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100 (direct line - ext 102)
Fax: (301) 519-2892
e-mail sherrib@genedx.com
http://www.genedx.com 

The forms are posted at http://clsf.info on the Frequently Asked Questions (FAQ) page, under “Is There a Test for CLS?” Included on that page are an information sheet about the test, a consent document, sample submission form, payment option form, and instructions for collecting either a blood sample or cheek swab. GeneDx will supply cheek swab collection kits at no charge upon request.

Thanks for Caring!

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

Linda Guy
Birmingham, AL
In honor of the birthday of her nephew, Matthew Moxley

Barbara Bond
Charleston, SC
In honor of Travis Miller’s adoption

Send your donations to:

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

FDA Approves Humatrope for Short Stature

In July, 2003, the Food and Drug Administration (FDA) approved a new indication for Humatrope (Somatropin, rDNA origin, for injection), a brand of growth hormone, for the long-term treatment of children with idiopathic (of unknown origin) short stature, also called non-growth hormone deficient short stature.
"Short stature" has been defined by the American Association of Clinical Endocrinologists and the Growth Hormone Research Society as height more than 2 standard deviations (SD) below the mean for age and sex. This corresponds to the shortest 2.3 percent of children. This new indication restricts therapy to children who are even shorter, specifically more than 2.25 SD below the mean for age and sex, or the shortest 1.2% of children. For example, for 10-year old boys and girls, this would correspond to heights of less than 4' 1" inch. This would further correspond to heights of less than 5' 3" and 4' 11" in adult men and women, respectively.

Today's approval was based on 2 randomized, multicenter trials, conducted in approximately 300 children with idiopathic short stature. The diagnosis of idiopathic short stature was made after excluding other causes of short stature, including growth hormone deficiency.

The pivotal trial was a randomized, double-blind study in 71 children aged 9-15 years. Patients received injections of either Humatrope or placebo three times weekly until adult height was reached. Thirty-three patients contributed final height measurements after a mean treatment duration of 4.4 years. Mean final height of the Humatrope patients exceeded that of the placebo patients by approximately 1.5 inches.
In a second study, patients received one of three increasing doses of Humatrope, in divided doses six times weekly. The average duration of treatment to final height was 6.5 years. Final height exceeded that predicted at the time of enrollment in the majority of patients, and by up to nearly four inches in some. In the high-dose group, mean final height exceeded mean height predicted at baseline by nearly three inches.
The safety profile of Humatrope in children with idiopathic short stature did not differ from that in children with other conditions for which growth hormone is indicated.

Various growth hormone products are currently indicated in children for short stature associated with growth hormone deficiency, chronic renal insufficiency, Turner syndrome, Prader-Willi syndrome, and in children born small for gestational age.

Humatrope's new indication for idiopathic short stature is the first indication for growth hormone in children that specifies a height restriction (see above).

On June 10, 2003, the application for this new indication was presented to FDA's Endocrine and Metabolic Advisory Committee for public discussion and consideration. The advisory committee voted 8-2 in favor of approval.

The manufacturer has advised FDA that it will not engage in direct-to-consumer advertising of Humatrope and will limit the marketing of this product for this new use to pediatric endocrinologists in order to better ensure the proper use of this product in the indicated pediatric population. In addition, the manufacturer intends to tightly control the distribution of Humatrope.

Humatrope is manufactured and distributed by Eli Lilly Co. of Indianapolis, Ind.