The mitral valve is similar to a one-way gate in the left side of your heart. Normally, the valve only allows blood to flow from the upper to lower heart chamber. But if the valve becomes diseased or injured so it cannot close properly, blood can leak backward (regurgitate) into the upper chamber (left atrium). This un-circulated blood causes the heart to work harder to pump the extra regurgitated blood (volume overload).
Mitral valve regurgitation (also called mitral valve regurgitation, mitral incompetence, or mitral insufficiency) can either be chronic or acute. Chronic MR develops slowly, possibly over decades, and symptoms, such as shortness of breath, fatigue, and swelling in the feet and ankles may never appear. Acute MR is a medical emergency that requires urgent treatment to repair or replace the mitral valve.
 

   Treatment for MR includes medications for symptoms and eventually surgery to repair or replace the valve.
People who have mitral valve regurgitation may be at higher risk of heart valve infection (endocarditis). In these people, antibiotics may be prescribed before certain procedures (such as dental work) to help prevent endocarditis.¹
  

   Mild mitral regurgitation may not produce any symptoms. When regurgitation is more severe, people, particularly when lying on their left side, may have palpitations; that is, they become aware of their heartbeats, which are more forceful. Heartbeats are more forceful because the left ventricle has to pump more blood, to compensate for the leakage back into the left atrium. The left ventricle gradually enlarges and thickens to increase the force of each heartbeat.
  

   Similarly, the left atrium also tends to enlarge because it must accommodate the extra blood leaking back from the ventricle. A very enlarged atrium often beats rapidly in an irregular pattern (a disorder called atrial fibrillation), which reduces the heart's pumping efficiency. A fibrillating atrium is just quivering, not pumping. Consequently, blood does not flow through it normally, allowing blood clots to form. If a clot breaks loose (becoming an embolus), it is pumped out of the heart and may block an artery, possibly causing a stroke or other damage.
  

   If regurgitation is mild, mild heart failure can be treated with an angiotensin-converting inhibitor (ACE inhibitor). However, in people with moderate regurgitation, surgery increases the chance of a good outcome and reduces the risk of worsening heart failure.

1. Endocarditis is an infection of a heart valve or the inner lining of the heart (the endocardium). Infection can damage or destroy the heart valves and damage the heart.

Excerpt from http://my.webmd.com/hw/heart_disease/aa143445.asp 

Matthew Webb, Age 18

Hi Mary,  

   Mathew not sleeping well still, with the sleep apnea, still can’t get him to wear the mask to sleep.  Still trying sometimes,  it gets too much sometimes. 
   We also have the problem of working out what he does next year as he leaves school at the end of this year.  Waiting to see if we get funding for day support. 

Mrs. Carol Webb
Claremont, Tasmania AUSTRALIA
 

Dear Mary,
   Last time that I wrote to you I told you that Mark was going back to wearing a brace again for his back and that it was getting better. Unfortunately when he went back to the hospital on the 1st of July his X-ray showed that it was getting worse again and we are now waiting for him to fo into hospital to have metal pins put in.
He was meant to go in on the 13th of September but I have had to change the date for circumstances beyond my control. So I am waiting for another date which when I phone up I was told that it may not be till November or December that they would send me a date in the post.
   Anyway he is happy in his self. He has lost another tooth at the bottom , this time but his new on is coming through already and it must have pushed the old one out. Anyway as for his top ones that came out at Christmas and in February, they still haven’t grown back yet and I don’t know why. (Note: It is not uncommon for CLS kids to lose baby teeth prematurely and for the permanent teeth to take a long time to come in.—MCH)
   I will let you know when he gets his date to go into hospital to have his operation and how he gets on afterwards as I don’t even know if it will stop him from walking or not, or whether or not he will have to have time off of school when he comes out again.

Jacqueline Blyth
Bedford, GREAT BRITAIN

Hello,
   I'm glad to be here, meet you, and have a place to ask questions where people understand.
My sister's children, Josh and Coleman, are now 21 and 22 years old.  When they were diagnosed as toddlers with CL we didn't have computers, or access to one to find out anything.  We were told at that time there were 50 known families in the U.S. whose families carried CL. 
   My nephews were diagnosed at the University of Kentucky.  It was such a terrible shock - this doesn't seem to run in the family as far as we can search back.  There's simply nothing. 
I am the only other female sibling; my children don't have CL; we have a brother who is unmarried and not affected.
   I was up all last night looking at photos I found at one site of CL children.  My nephews look like they are more severely affected than some of the children I saw.
   They weren't toilet trained until they were in their teens.  The oldest one is deaf, the younger one we think has some hearing; they both have ADHD.  The older one has the bone problems, scoliosis, etc.; he can't hardly walk.  The younger one is having the 'drop episodes'.
   The doctors have always said the scoliosis so severe there's nothing to be done. Josh, the older boy has it far worse than his brother. He also has the other kind, I don't know the word, the opposite of scoliosis, that makes his spine curve the other way. That's why he's so terribly twisted. My mother worries very much that he's in pain and can't tell anyone. But he laughs, still tries to run although he falls.
They were diagnosed in 1983, way before there were even genetic tests for it. I'm so glad that's available now.
   They have no ability for self hygiene; they interact by pointing at something they want. They don't respond much to anything. They just go like they've been wound up, eating paper, breaking things, or trying to run from us, laughing like it's a joke.
   Thanks for listening.  I'll be reading.

Peggy Cunningham
Versailles, KY
 

Matthew Young, Age 34

Dear Peggy,  
   My heart goes out to you and your family. I know the heartbreak and frustration you feel. My son, Matt is 34yrs old. I haven't found anyone older than him with CLS yet so I know first hand how you feel.   (Note—there are about a half-dozen people in CLSF who are over the age of 34. Charles Corbiere is 60.—MCH)
Matt is a wonderful man now. We struggled through his formative years with 3 bouts of meningitis, 32 operations for chronic otitis media and extremely high cholesterol and diabetes. Knock on wood everything is now under control.
   After his last ear operation where everything in his inner ear including the eardrum was removed, he also had his mastoid removed and a cholestoma behind the mastoid removed at the same time. He now does not hear in that ear but no more infections nor pain.  
   He too,  was not night-time toilet trained until he was 14 yrs old. He suffers from drop attacks too which we have finally got them under control with 400mg of Lamictal daily. His attacks have dropped from 50+ a day to 3 or 4. What a relief.
   He doesn't walk and uses a wheelchair, like a speed demon, to get around. He is totally independent. He cares for his own daily care, makes his bed and cleans his room. He does the dishes, empties the trash, washes my van but not the roof as he can't reach it but I don't care. He vacuums the house and puts the laundry away for me. He just loves to help me all the time... we call him MR. MOM as when he gets bored he cleans the house ...lol.
   He is in a special program which he attends daily. He use to work at Toys R Us but now he just works at his program where he gets paid. He has a wonderful personality and everyone just loves to be around him. Rarely does he get angry.
   He has a girlfriend and they go to the dances each month at the community center and occasionally I take them to a movie together.  
   I have 5 children and Matt is the fourth one born. At first I was upset and confused and wondering what I had done. I now realize that it was God's gift to me. I am more patient and compassionate than I ever was. I guess I named him appropriately...Matthew...Gift of God..but I didn't know then that he would be such a wonderful gift.
   Matt's dad left us when Matt was three and I raised all the kids by myself until I remarried when Matt was 8 yrs old. His step dad adores him!!! So all in all I guess I have been really blessed!!!  

Barbara Westerhouse
Oxnard, CA
 

Joseph Fortune, Age 16

Peggy,
   I feel for your family. My son is adopted, he came to us at the age of 9. We have several children with disabilities and enjoy each one of them.
   Our Joey is now 16, he's the one with CL. He is only about 4 ft tall and isn't toilet trained, don't think he ever will be. He is non-verbal and MR. He can't chew, has to have pureed food. He does love to put together puzzles and can do 100 piece puzzles which amazes everyone at his level of functioning. He has had a spinal fusion for scoliosis but thankfully doesn't have drop attacks. He is a social little guy and happy most of the time.

Martha Fortune
Sebring, OH
 

Felipe Medley, Age 23

   My son, Felipe, had his tonsils taken out at age 5; which was exactly what he needed.  He also had sleep apnea, and after he had his tonsils taken out, he no longer had problems with breathing or snoring.  He too, had to be anesthetized for removal of wax in his ears.  However, now, he is able to sit still for the doctor to remove the wax out of his ears. 
   He presently attends a Day Program and he, too, is not potty trained.  He is, however, ambulatory, self feeds and works on puzzles.  He's really great at this. 

Gracie Sifuentez
Cedar Hill, TX
 

Dear Dr. Lewin,

   I only found this group a few days ago. I have two nephews with CL.  Their mother is my only sister and is a carrier.  We had never even heard of it until her children were diagnosed. However, we did notice that my sister seemed to sleep a lot as a child.  Our mother took her to the doctor for a checkup and he found no problems.  She doesn't have sleep apnea.
   I spoke with her yesterday and she described how she feels.  "I can sleep 12 hours, get up and feel pretty good, but only for about 5-6 hours, then I'm very sleepy again.  I have to work, and I stay awake, but I feel exhausted most of the time."
   This is the way she's always been.  At family gatherings, etc., after a while she'll disappear for an hour or two to take a nap.
 

Peggy

   Although the literature says that limotrigine may cause drowsiness in the short term, I haven't found that to be the case. Davis was oxygen deprived because of his sleep apnea and that made him tired during the day. There was marked improvement as soon as his tonsils were removed. He still sleeps a lot, but so does my other teenage son. Teenagers need 9 to 9-1/2 hours of sleep a night normally. Research shows that while teenagers sleep, hormones are released to promote growth and development. It's especially important that teens get enough rapid eye movement (REM) sleep to boost their learning and memorizing abilities.
Not enough sleep can make your teenager struggle to stay awake in school. It can also make him moody, lethargic, and unable to concentrate on important activities, like driving. See http://www.nationalyouth.com/teensleeping.html  for more info.
   Obstructive sleep apnea sufferers never get "a good night's sleep" because repeated apneas and arousals deprive patients of REM and deep-stage sleep, leading to chronic daytime exhaustion and long-term cardiovascular stress. See http://www.entcolumbia.org/osa.htm for more information.
-MCH

   You are right on regarding the impact of sleep apnea and adolescent sleep need.  One of the critical issues during adolescence is the timing of their sleep period.  There is a natural, biologically determined, shift in the timing of the sleep phase to a later period that often conflicts with school start times.
If an adolescent is getting an average of 9+ hours of sleep they should not be excessively somnolent during the day.  If they are somnolent, needing naps and are extremely tired when they wake up every morning their may very well be another sleep disorder.
   Sleep apnea is more common among CLS patients because of specific craniofacial features and hypotonia.  It is very important to treat OSA aggressively.  A baseline overnight sleep study lasting between 7-8 hours is particularly important.
   The history of drop attacks among CLS patients may be significant.  There are some genetic disorders (e.g., Nieman Pick) that  are associated with reduced hypocretin/orexin a neurotransmitter that has been implicated in patients with narcolepsy.  I would recommend that any patients with hypersomnia and drop attacks should have both an overnight sleep study and a daytime test that rules out narcolepsy.
If anyone needs referrals  to a sleep center in their area I'd be more than happy to provide some names and numbers.

Danny Lewin, Ph.D., D,ABMS
Licensed Clinical Psychologist, Diplomate
American Board of Sleep Medicine
dlewin@speakeasy.net
Danny Lewin, Ph.D.

Children's National Medical Center-GWU

111 Michigan Avenue, NW

Washington, DC 20010

DLewin@cnmc.org

Hi everyone,
   Our son, Chris with CLS is 16. He is 5 ft 7 weighs about 165lbs. Pretty average for a kid his age. He has had severe OSA (Obstructive Sleep Apnea) for about 5+ years now and has been on a CPAP machine for almost 3 yrs (since diagnosis).  He also has behavior problems and has been on Riperdol for almost 1 yr now. It helps some, but I feel we still need to do some tweaking where it is concerned. He too sleeps an abnormal amount of time. Even since his surgery for his apnea this past August. His surgery consisted of removing his tonsils, removal of the uvula, and removal of part of the soft pallet. He also had his deviated septum straightened. It was quite a long few weeks!!
   We have seen some improvement since surgery, i.e less snoring, drooling etc. He is up for another sleep study in a few weeks to determine just how much the surgery really did help. His doctor did suggest that we also look into the fact that for some reason Chris is not getting enough oxygen. After the surgery they had to keep him an additional night because his stats were way off. His O2 levels were way too low. Still don't know why. If this surgery was not enough of a success, he will go to the next level which is where they will break both his jaws and move them forward in order to move the tongue forward in his mouth. (See Maxillo-mandibular Advancement, below - MCH) With CL kids their tongues are enlarged and because of the lack of muscle tone, the tongue falls back into the throat blocking the airway, hence creating sleep apnea. This is a last ditch effort to cure him. Poor guy has 164 back to back episodes of apnea an hour during sleep. And only 3 seconds of REM sleep per hour.... Not enough to function on at all!!!
   Chris is still sleeping A LOT.  On a normal school day he goes to bed at 7:30 pm and gets up at 5:30 am. He gets home around 3:30pm and will usually take a nap for 2+ hours, then have dinner then go to bed again for the night at 7:30 pm.  On weekends, he will go to bed about 8:00 pm and sleep until between 11:00am and 1:00pm.  And most days he will still go down again later in the day for a nap of 2+ hours.
   Chris is mobile, potty trained (for the most part) feeds and dresses himself. He is somewhat verbal. But cannot voice when he is not feeling well etc....  Over the past few years he has had several episodes where he has collapsed. Two of the times he was incoherent and totally out of it for several minutes. Every time we have had him taken by ambulance to the hospital. We have no idea what is causing these episodes. He gets grey in color, very sweaty, and just goes down..... Are these drop attacks?
   Sometimes he is shaking. They have pretty much ruled out seizures. The latest Dr. suggested maybe they were Absence Seizures (petit mal). We have an upcoming appt with a neurologist. What are drop attacks like? Is it likely that at age 16 he could be getting them when he never had them before? (well, his first "episode" was age 14). Would appreciate any suggestions or comments. Thank you!!!

   My son Andrew had some of those very grey, sweaty episodes prior to his open heart surgery to replace his mitral valve, since the surgery those particular episodes are completly gone.

   He does however have drop attacks which are completely different in nature, they are more like startles, where he loses tone for seconds and would drop to the floor if he wasn't in a wheelchair, hence the need for the wheelchair.
   Andy has severe obstructive sleep apnea as well, he too has been on a CPap machine for 4 years now and is doing well with it, surgery is not an option for Andy since his Mitral he's been on a blood thinner called Coumadin, surgery would require the need to keep him off the Coumadin for a while and since he's doing well with the CPap it's been decided to leave well enough alone, therefore he'll be sleeping with a CPap unless that becomes a problem, it really doesn't appear to bother him much at this time.
He too sleeps a lot, although not as much as he used to before the heart surgery, he now requires about 10 to 11 hours of sleep per night and functions quite well with that.
   Anyway has your son's heart been checked, Andy's had several times and nobody had picked up on a problem until the grey episodes and our family doctor decided to get an EKG where it was discovered that Andy's mitral valve was stenosis as well as prolapse.

   Thanks for the info on the heart condition. As far as I know they have checked his heart, for sure the first two episodes. Did EKG, did a xray of the heart to see if it "looked" normal. He was followed by a cardiologist for awhile I also seem to remember. But maybe this needs to be looked at more closely. Will talk it over with my husband as well. He has been a paramedic for over 18 yrs (to me that qualifies as almost a Dr.) He too is quite knowledgeable in this area. And, would remember better than I what tests Chris has had and has not had. His brain just works that way being a medic and all. :-)
   When your son had the heart issues, did he also have trouble with his hands always being blue or red and always cold? Chris does..... we have often wondered what is the cause and have asked several dr.'s and no one seems to know. Could it be related to the heart issues if he indeed has any?
   Can you tell me more about what your son's "grey" episodes were like? What was he doing when they happened? Was he conscious after them? Was he quite weak afterwards and sometimes collapse again within minutes? Anything will help!

Laurie Michaelsen

Davis Illa, Age 17

   Davis has also had 4 episodes of syncope (fainting) in as many years. I only saw one of them. During two episodes, he was unaware of his surroundings for 1-2 minutes, in the others, he was aware. In all cases, he turned white - no color in his lips at all - and broke out in a cold sweat. There was about a 30 minute recovery period before he was really back to normal. He was always quite tired afterwards.  
   After the last one, I took him to a cardiologist for the second time. He had an EKG and ultrasound of his heart and was diagnosed with mild mitral valve regurgitation or insufficiency - his mitral valve doesn't close effectively between beats. His cardiologist didn't think this was related to the episodes, but I suspect there is a connection as there seems to be a consistent relationship in other kids. His first EKG several years ago didn't turn up this issue, but he was less cooperative at that time so they aren't sure if he had it then or not. It's important that the patient relaxes in order to get a good reading. If they are tense, it throws the EKG off with ambient "muscle noise". They sent him home with a Holter monitor but I haven't gotten the results of that yet.  
   There is a definite connection between sleep apnea and cardiac problems in adults but there isn't much research on children - it's also not the type of cardiac problems that we are seeing in CLS kiddos. That has more to do with arrythmia. It is not clear if there is a connection between sleep apnea and mitral valve issues, but I have to think that long-term oxygen deprivation has got have a negative effect on the heart muscle itself.  There is also likely a genetic predisposition to heart problems because of CLS.
Both the apnea and inefficient circulation can cause drowsiness.   Cold, blue hands sure sounds like as a circulatory problem. I'm going to pass some of this on to Davis's cardiologist.
 

-MCH
 

   Andy's hands were always very cold and so were his feet, they still are somewhat but definitely less than before the surgery, I agree with Mary that this is a sure sign of poor circulation which Andy's cardiologist agreed with that as well. He would turn very grey, his lips would turn blue, to such an extent that I recall calling his doctor once and telling them how scared I was, they in turn send us to the emergency room where they did a test to determine how much oxygen Andy was getting and it the instrument measured 60 which was very bad, it should of ran above 90. We were immediately sent by ambulance to a much larger hospital and they still didn't find the heart condition at this point. It took several test and many ambulance rides many as in at least 4 that I recall before they found the cause.
   There never seemed to be a certain time that he had them or a particular pattern to the times he would have the episodes, they just happened. Sometimes none in a day sometimes he would have a day that would stay with blue lips and lethargic all day. He would be very tired after these episodes and require a lot of sleep which also scared me. I'm just very thankful that they discovered the cause and that he did so well with the surgery.

Hope this helps.
Lynn Richards

   Maxillo-mandibular Advancement (MMA) or double jaw advancement is a procedure whereby the upper and lower jaws are surgically moved forward.  The concept is that as the bones are surgically advanced the soft tissues of the tongue and palate are also moved forward, again opening the upper airway.  The usual movement is about a half an inch.  Since the upper and lower teeth are moved the same amount, the bite would be similar before and after operation. 
   The MMA will always alter and often enhance appearance, but is not disfiguring.  The operation is accomplished through the mouth.  The jaws may be briefly wired closed following the operation.  The procedure is technically involved with the potential for complications as in any surgical procedure, but most patients recover remarkably well from this surgery. 

For more information, see http://www.osasurgery.com/maxillo.htm