There are several cardiac conditions that are associated with Coffin-Lowry syndrome. Congestive heart failure due to mitral valve regurgitation has been described in a few patients (Temtamy et al.1975, Hunter et al., 1982, Machin et al., 1987, Charles et al., 1988). Autopsy revealed fibrosed and shortened chordae tendineae of the valve in one of these patients (Machin et al., 1987) and cardiomyopathy with endomyocardial fibroelastosis in a second patient (Charles et al., 1988). Massin et al., (1999) reported a patient with recurrent episodes of congestive heart failure secondarily attributed to congenital mitral valve regurgitation and primary myocardial disease. These findings and the previous ones suggested that a myocardial disorder may be part of the CLS.
 

Derived from the Latin, cardiomyopathy means `a disease of the heart muscle'. Currently four separate and distinct conditions of cardiomyopathy are recognized and these are:

Arrhythmogenic Right Ventricular Cardiomyopathy - ARVC

Arrhythmogenic is an electrical disturbance of the heart which tends to affect the Right Ventricle more than the left ventricle. Cardiomyopathy means a heart muscle disease. The most recent definition of ARVC is the following: a heart muscle disease characterized by the replacement of heart muscle by fibrous scar and fatty tissue. The right ventricle tends to be most affected. ARVC is often patchy in its distribution so abnormal areas may be surrounded by normal ones. If the heart is examined, the right side of the heart may appear to be thickened early in the disease, but later it may become dilated (enlarged) with a thinner wall. The muscle becomes reduced and instead there are thin layers of fat and fibrous tissue. It used to be thought that only the right side of the heart was affected but it is now recognised that the left side of the heart can also be affected. Progressive disease may occur, and may often run in families.

Dilated Cardiomyopathy - DCM
Dilated Cardiomyopathy (DCM) causes the heart to become enlarged, and to function poorly. As a result the muscle of the heart becomes weak, thin, or floppy and is unable to pump blood efficiently around the body. This causes fluid to build up in the lungs, which therefore become congested, and results in a feeling of breathlessness, this is called left heart failure. Often there is also right heart failure, which causes fluid to accumulate in the tissues and organs of the body, usually the legs and ankles, and the liver and abdomen.

Hypertrophic Cardiomyopathy - HCM

The main feature of Hypertrophic Cardiomyopathy is an excessive thickening of the heart muscle (hypertrophy literally means to thicken). Heart muscle may thicken in normal individuals as a result of high blood pressure or prolonged athletic training. In Hypertrophic Cardiomyopathy, however, the muscle thickening occurs without an obvious cause. In addition, microscopic examination of the heart muscle in Hypertrophic Cardiomyopathy shows that it is abnormal. The normal alignment of muscle cells is absent and this abnormality is called myocardial disarray

Restrictive Cardiomyopathy - RCM
Restrictive cardiomyopathy is the least common of the 3 clinically recognized and described cardiomyopathies. Its principal abnormality is diastolic dysfunction. Differentiation from constrictive pericarditis, a clinically similar entity, is difficult but important since the treatment options and prognosis differ drastically.
Pathophysiology: Restrictive cardiomyopathy can be idiopathic or secondary to a heart muscle disease that manifests as restrictive physiology. The common hemodynamic disturbance is impairment of ventricular filling due to the thickening and increased rigidity of the endocardium and myocardium secondary to infiltration by amyloid tissue or by fibrosis. Systolic function remains normal or near normal until late stages.

For more information, visit the Cardiomyopathy Association web site at http://www.rdiomyopathy.org 

Don't say you don't have enough time. You have exactly the same number of hours per day that were given to Helen Keller, Pasteur, Michaelangelo, Mother Teresea, Leonardo da Vinci, Thomas Jefferson, and Albert Einstein.

~Life's Little Instruction Book, compiled by H. Jackson Brown, Jr.

Gracie Sifuentez
Cedar Hill, TX
 

Felipe Medley, age 21.

Felipe experienced sleep apnea at age 3 and was resolved by having a tonsillectomy. During his stay at the hospital, however, he started to bleed and was required to go back to surgery for a corrodization procedure.

At age 3, (before the sleep apnea testing and tonsillectomy), he had a very terrible infection and every time we would take him to the doctor, he would just tell me to continue the medication given and keep an eye on him. Finally, one evening the only way he was able to sleep was by being in a sitting position. I took him to the Emergency Room and was shortly admitted. To make a long story short he was diagnosed with "croup" and shortly thereafter, he had an arrest. He then was transported via ambulance to Children’s Medical Center in Dallas, Texas. That’s when the tonsillectomy took place.
 

Felipe knows how to dress himself (buttoning, zipping, and snaps), but like many other CLS individuals, he does not like to get his teeth brushed. He himself is capable to doing this, but he chooses not to.
Felipe is nonverbal, but can say "Mom" when he wants to. However, he communicates very well with his eyes and by taking your hand and directing you to where he wants to go. He understands when you ask him questions like, "Do you want to go outside?" "Do you want to take off your jacket"? Please give me the remote control.
 

Felipe truly enjoys walking, (he too, walks with a gait). He knows how to put in and eject videotapes and will do so with his collection of videos that he has. He also has some favorites and will repeat playing them.
Felipe also enjoys and is very good at puzzles, up to 75 pieces and he truly enjoys sorting cards, by design, color, number and face cards.

James & Dana Bellosi
Owings, MD
 

June 2, 2002

Dear Mary:
 

I apologize for taking so long to write you with details of losing our daughter, Gabrielle. It has been a very, very painful time and even typing her name - breaks my heart. I do want you to know the issues surrounding her death so you may pass on to other parents the complications involved. Gabrielle died on November 11, 2001. I found her in her bed - she was gone. Time of death was determined to be "in the middle of the night". On her death certificate it was written 9:35 a.m. (which is the time the doctor at the hospital pronounced her dead.) An autopsy was preformed. It was ruled that she died of:
 

1. Seizure Disorder
2. Coffin-Lowery Syndrome
a. Dilated Cardiomyopathy
 

Here is a little history of her health. At age 7, she started having mild seizures (more like daydreams). Gabrielle was non-verbal and severally mentally challenged. So she could not tell me what was happening to her. That fact makes it even harder to cope with. Gabrielle's neurologist prescribed Tegretol. Gabrielle was also going through some behavior issues (I believe attributed to pre-adolescent puberty). Therefore, the doctor prescribed Risperdol. She started having breakthrough seizures after 6 months on Tegretol. The doctor then prescribed Trileptol. After 6 months again, she started having breakthrough seizures, this time they had progressed into gran mal seizures. The nurse at her school had never seen such a seizure pattern and questioned the Risperdol in conjunction with the Trileptol. Again, the doctor changed her medicine to Depakote. We never stopped giving her the Risperdol. I was assured that it was not the Risperdol making the seizures worse. My school nurse does not believe that to be true.

Almost like clockwork at the 6-month marker, she again started having breakthrough seizures. Each one landed her in the emergency room. She was slowly getting worse each time. The seizures would leave her very pale and exhausted. Her final seizure that I witnessed lasted 40 minutes. She was on her back, gasping for air; I cleared her airway and rubbed her face.

I told my grandmother, Nana, something very bad is going to happen to her. I just know it. If I were not there for the 40-minute seizure, she would have died, just as she did. Each time I called the doctor, I asked, "Can this kill her?" No, Mrs. Bellosi, as long as she has her medicine, it won't kill her. The doctor prescribed a new medicine known as Lamictal. Three days after her first dose - she died.

Please tell your parents of the question my nurse had asked concerning Risperdol with seizure medicine. I am told they should NOT be mixed. Risperdol wears down the resistance for the seizure medicine to work. Therefore, breakthrough seizures can occur. My question to you is Cardiomyopathy. How common is it with CLS kids? Have you ever heard of this? We had NO KNOWLEDGE of it with Gabrielle whatsoever. Unless they are doing a cardio workup on the child. It cannot be detected. Now I am worried about my other children having it. I was told by a doctor reviewing the autopsy report that cardiomyopathy would have killed her in the future without a heart transplant and because of all her ailments, she would have never been a candidate to receive a heart.
 

Handicapped children are treated so badly. It breaks my heart to know that maybe, just maybe, this could have been prevented. The coroner asked me point blank. Why did the medical examiner send her to him to be autopsied? She clearly was a very, very sick child, I was told. I never thought of her being that sick. She was robust. Healthy looking. Loved to eat. Was happy watching Barney. Why?

I will never be the same. I have so much guilt. Guilt that she never could tell me she was feeling" bad. Guilt that I gave her that medicine. Guilt that I trusted doctors so much.

Please cherish your handicapped child. I believe that each one is an angel from God. Sent here to teach each one of us trusted parents something so special. Humanity. I believe my little girl is in Heaven. She is perfect now.

She watches over us and keeps her sister and brothers safe. She has a special place in Heaven because she suffered so much on Earth.

Sincerely,
 

Dana Bellosi

P.S. Please thank the parents for all the warm thoughts and prayers that they sent in us cards.

Jacqueline Blyth
Bedford, Great Britain
 

Dear Mary,
 

I thought I would write and let you know now Mark is doing. He is getting on really well. He is so determined that he is going to do things he doesn’t give up very easily. He keeps on trying to do something till he can do it. He can now just about get his self dressed. He was meant to go to London to see a doctor about his scoliosis but I was told that I couldn’t have transport to get there, and I had no other way of getting there, and was told that the hospital would get back in touch with me, but they haven’t as yet.

Since the doctors told me that they couldn’t find the mutation in Mark and he’s not having as many appointments to keep an eye on him, I really feel as though I have been left on my own to cope.
I was wondering and as I am fed up of there not being any support groups in Britain, how I would go about getting one up and how I would get funding to do so. If you were wondering why I would need funding it would be to take the children on days out and the funding would be to pay for diesel or petrol and things.
A friend of mine would help me. We wouldn’t be doing it to make any money for ourselves, we would be doing it to help the families with Coffin-Lowry syndrome.

Yours faithfully,
 

Jacqueline Blyth

PS Mark is now 6 years old but I think that he is acting as a 2 or 3 year old would.

Mattina Mallos Alkyonis

Athens, GREECE

My daughter, Maria Karagiozi is a child with Coffin Lowry. Maria is 16 years old now.  We had visited the states in January 2000 and met Dr. Karen Harum. She saw Maria and she was the best help that I have had all these years.  Maria had broken two vertibraes from her 'drop attacks', and when we returned from the states she had three epileptic seizures in her sleep. She was taking TEGRETOL and still is but she has not had any more seizures and her 'drop attacks' are so much better now. Thank God my child is doing very well!!

My daughter was the first child in Greece with Coffin Lowry and now they have found two more boys. I am more than willing to help in any way I can. You have done a great job and may God bless you and your family!!

Best wishes,

Mattina Mallos

Lanette Sessions
Jacksonville, TX
 

Mary,
 

Thank you so much for the beautiful card that you sent. It is so nice to know that people are thinking about you and praying for you. We are doing better at this point. It has been about 6 weeks since Denny died and we are having to adjust. I don't think that Allen realizes what has happened. Denny worked a "swing shift" at the power plant and was gone a lot in the evenings. He worked a week of days, a week of evenings, and then a week of nights. It seems to really be a blessing that Allen is in his own little world. He had to spent 4-5 days away from me, but they were with his nurse (who has had for 8 years) and his teacher. He did not mind staying with them. He is doing good. We are going to have surgery on July 8 to take his tonsils and adenoids out. He has been diagnosed with sleep apnea and we are hoping this may help that problem. We have also learned that he is aspirating when he drinks milk, water, etc. and are having to thicken his fluids to help with this. I was at the hospital with him (and had been for 4 days) having these tests run, when Denny died and was not able to finish talking to the doctors about the situation. We will be going back on July 17 to do some follow ups with them.

Thanks again, for thinking of us and keep us in your prayers.

Lanette

Mark & Lynn Richards
Whitefield, ME
 

Hello everybody,

Just wanted to share with you that Andy has been accepted by Make a Wish Foundation to receive a Wish, as most of you are aware Andy has a heart condition that made him qualify. Andy's wish is to go swimming with Dolphins, we're all so excited about this. We're waiting to see if Andy's Doctor will ok it for Andy to fly, and if he does, then all is a go, we've met with Make a Wish people and they are absolutely wonderful, this will be an amazing time for all of us. Just wanted to share this with you all.
 

Hope all is well with everybody.

Lynn Richards

Note from Mary Hoffman:

When Davis was hospitalized in may for his second spinal fusion, he was also diagnosed with severe nocturnal breathing difficulties, and a full sleep study was recommended. We had the sleep study performed, and this resulted in a prescription for a Bi-Pap machine. Davis has been on a Bi-Pap machine for about 10 days now. A Bi-PAP is similar to a CPAP except that the pressure varies depending on whether you are breathing in or out.

The change has been dramatic. Before, Davis slept until 9-10am, took naps, and wanted to go to bed at 7:30 pm. Now he wakes up on his own at 8:00 am, doesn’t take naps, and is still wide awake at 10:00 pm. He’s eating more, because around 9:00 pm, he’s hungry again and has another whole meal. He would have slept through that meal before.

It takes as long as 6 months for the full benefits of the Bi-Pap to be realized, but I am very encouraged. Davis turned 15 in July.

Thanks for Caring!

I would like to thank the following families who have donated generously towards CLSF operating expenses:

Send your donations to:

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

Being a good parent today s a challenge. Here are some tips to help create a loving relationships with children and still set and enforce the limits they need.

When children misbehave, let them know you dislike what they did and not who they are.

Rewarding good behavior is more effective than punishing misbehavior. Whenever your child remembers to follow the rules, offer encouragement and praise about how well he did. You do not need any elaborate system of rewards. “Thank you for coming right away,” and hug your child.

Try to “catch” your children being good. Be generous with your praise.

Punishment should be used to help teach children about the consequences of their behavior. Never punish in anger.

Setting a good example is the best way to teach your children how you want them to behave.

Physical punishment teaches a child that hitting is OK.

Words hurt. If you tell children they are stupid or lazy, they will grow up believing that.

Make it a habit to spend time together. For example, make bedtime into story time and read together.

Offer choices whenever possible. By giving choices, you can set limits and still allow your child some independence. “Would you like to pick up your toys yourself, or should I help you?”

Make a game out of good behavior. Your child is more likely to do what you want if you make it fun. “Let’s have a race and see who can put his coat on first.”

Plan ahead. If you know that certain circumstances always cause trouble, such as a trip to the store, discuss with your child ahead of time what behavior is acceptable and what the consequences will be if he does not obey. Try to plan the shopping trip for a time when your child is well rested and well fed, and take along a book or small toy to amuse him if he gets bored.

When a child sees the natural consequences of her actions, she experiences the direct results of her choices (Be sure the consequences do not place her in any danger). If she spills her milk, she will not have milk to drink. If she throws and breaks her toy, she will not be able to play with it. It will not be long before she learns to not spill her milk and to play carefully with her toys.
When you use this method, resist the urge to lecture your child or to rescue her (by getting more milk, for example). Your child will learn best when she learns for herself and will not blame you for the consequences she receives.

Think before you speak. Once you make a rule or a promise, stick to it. Be realistic.