Circle of Friends

Kathy Davis, Turlock, CA

1/30/02

Dear Mary,

Hello, how is everything going since the holidays. Our email is changed again to this, but I will be keeping this for a longer time! Our other info is the same except the phone. We can be reached at 209-996-1176 for the time.

Well not much is changed for us. Andrew has changed doses of meds since my last contact. He is now taking 375 mg. Depakote 3x/day and 50 mg. Lamictal in the a.m. and 75 mg at night. He is doing well with it. His Dr. had him at 75 mg in the am but it was to much and Andrew was getting dizzy and weak. He still only weighs in at about 74 pounds if we are lucky!

He did end up getting an aid in school and that’s working out well. She and Andrew are very attatched to each other. One good thing since Christmas has happened. He finally got his new wheel chair! We had to wait longer due to the shipping problems caused by Sep. 11th. Along with a big new chair he got his standing frame, leg splints, wrist splints and shoe inserts. Andrew has been unable to wear traditional foot braces due to the blisters they cause, so he now has the small inserts that only cover the bottom of his foot. The standing frame is great! He gains 5 inches to his height! It holds him in a completely upright position and stretches his legs. He wears the leg splints at night also to keep him from curling into the fetal position. After sitting most of the day and sleeping that way I was beginning to worry about his muscles. His wrist splints are helping him to stop turning his hands under for support instead of using his palms.

Well he is halfway through the 8th grade! He will be entering 9th grade next fall! There is a new high school being built and it is hopeful the classes will be moved there instead of out of town.

Ron & Laurie Michaelsen, Half Moon Bay, CA

3/10/2002

Recently we took our son to see a new neurologist at UCSF. We were concerned about seizures due to some strange episodes Chris had had several weeks prior. Thankfully the dr. does not think it is seizures. But the Dr. did think that Chris has secondary ADD and Autisism.

Are there any other parents out there where your CLS child has also been diagnosed with these two things?

The Dr.s are leaning more toward vasil vagel (sp?) episode. But its characteristics were strange. He collapsed in the bathroom just after I cleaned him from a BM. He was shaking horribly, sweating, his color went a scary grey. He became unresponsive, on the floor, on his belly, for several moments.

I finally got him to a sitting position, where he was still unresponsive verbally. He was still sweating badly and his color had not returned. I had to practially carry him to the bedroom, where just as I was getting him to the bed, he collapsed yet again, same symptoms. The shaking was not a seizure type of shaking, but more like he had the chills very bad. He lay half on the bed, half on the floor while I called his dad. I have only been in Chris' life for a little over a year, but knew he had never had anything like this in the past happen. His father is a paramedic and Fire Captain for 18 yrs, so he was my best resource. He asked me to take Chris to the emergency room at Stanford. At Stanford they ran many tests (EKG, blood sugar etc..) but found nothing. The Dr. there couldn’t rule out seizures, but couldn’t confirm it either. I have seen all types of seizures, and I was left confused by this. He has not had any problems since. Also, he has never had drop attacks, but from what I have read this was not characteristic of a drop attack??? Any insights you have will be quite helpful! We are at our wits end right now trying to figure out some of what has been going on with him.

We are also have behavioral issues with him (one reason the neurologist thought he may be ADD) We don’t know if some of it is typical teenage behavior, or related to his apnea, or something else. He's begun acting out at school, and giving me trouble at home. He is also refusing to eat dinner at night, and sometime breakfast or lunch, but only when he is with us. When he is at school, he eats fine, no issues....…

Mark & Lynn Richards

Whitefield, ME

You should insist on having his heart checked, my son Andy has had some heart related episodes that sound very similar to this, his Mitral valve has since place replaced and he no longer turns a greyish, bluish color, he does however still have the drop attacks and they are very difficult to treat at this time, as they don't seem to be responding to any medications. Anybody out there have any suggestions, he's currently on Baclofen with no success at all.

Tammi Lay, Perryville, MD

It has been suggested that Katie has ADD and autism over the years - I think personally, sometimes it is a catch-all for “no other reasonable explanation”. Just recently, at age 18, she has been prescribed Ritalin to keep her alert. I was told many nursing home patients are currently taking this drug to keep them alert. We tried it - I did not see much of a difference, and stopped giving it - I like to see results when drugs are prescribed - I am the first to discontinue use if I do not like results and side effects. But, Katie has not been the norm for anything.

(Laurie Michaelson again)

He just turned 14. I have only been in his life for a little over a year. But yes, some of this could be puberty. We have often wondered how he (and us) would handle puberty. This is a whole separate thing I would love to talk to other CLS parents about. How do you handle it? I have a 6 year old daughter from my previous marriage, and am concerned she may walk in, or see something she should not one day as he grows up and begins to become curious about his body. He does not understand enough to sit him down and talk to him about it.... Any suggestions? Commmonalities?

Fiona Barnes, Bedford Bedfordshire, GREAT BRITAIN

As to a CLS child growing up that their understanding varies from one child to the next so of course needs to be dealt with accordingly. May be your daughter can be taught that her stepbrothers room is his and not to walk in uninvited. You or some other adult have checked to make sure that nothing she should not see be going on. I know it is difficult. My own son will be 17 this year so he is well aware of his body. He is taught in school things like sex education and it is done so that each child understands things to suit their own situation. It may take several tries before Phillip understands what is trying to be taught but he does learn.

He has to share his bedroom with his young nephew who is also a CLS sufferer. So the bathroom is the place marked as the one place that self-investigation can be conducted. Now the novelty seems to have worn off so to speak.

As far a puberty is concerned the hormones work the same in a CLS child as in a non-CLS child. The teenage tantrums etc. are there and I have found I can tell when it is hormones/teenage behaviour or CLS related. Phillip will go for long periods without throwing a tantrum. Behaviour connected to CLS I can see coming on long before he starts to misbehave, whereas teenage/hormones-related issues come from out of the blue. Thankfully neither last long. He knows that should he misbehave, he will be stopped from doing something he enjoys which could be a trip to the shops or not allowed to watch one of his favorite films. He has improved greatly in the last couple of years. Puberty was one of my worries however now I think that we can begin to move on to the next thing.

I am Jean François's mother; he has CLS and was born 23 June 1981. He is deaf and can't speak but can walk since the age of 40 months. He's on a treatment for epilepsy. He suffers heavy mental development problems but does make progress in understanding and finding his way about (orienting himself?). He is incontinent. He eats alone. He sleeps well at night. But he's not independent, needs to be looked after 24/7. Jean François had a half brother, Angelo, who also suffered CLS. He was born 24 June 1973 and died in his sleep of heart failure on 25 April 1989. Angelo was deaf and couldn't speak, he started walking after 3 years of physion and wearing equipment; at around 9 years of age he suffered a very bad scoliosis which was operated on when he was about 12 years old. At the time of his death we didn't know about his disease. Jean françois has three elder half brothers: Fabrice (37), Christophe (35), Ludovic (33) who are healthy [I think she means they don't have CLS]. I would like to get in touch with other families who have or have had children suffering from CLS in view of swapping information about the disease or to try and improve our knowledge [of it].

Dear Mary and Davis,

Thank you for keeping us up to date with everyone, the newsletter is a vital link to us and is greatly appreciated.

Since we last wrote our lives have changed enormously, in November 2000 our three year old twin grand-daughters came to live with Dylan and ourselves, and Bob left work to help at home as both girls are diagnosed and confirmed with Coffin-Lowry Syndrome.

Katrina is very similar in many respects to Dylan whilst Anissa displays few symptoms.

Dylan 18/6/95 - At school Dylan has progressed to Year One where his teacher Mrs. Hopper, and his personal helper Carolyn Blades (who has remained with him throughout school) are encouraging independence and working very hard to develop his knowledge and use of words and numbers. He is still using a few simple Makaton signs and uses symbols also in his communication. Occasionally he is asked to make short, unsupervised trips within the school, taking a note to another teacher, or collecting a book and he enjoys this immensely.

Observations have been promising, both the school staff and ourselves are very happy that Dylan is showing some capabilities in situations such as these. We were eventually notified, by Northern Genetics, of blood test results after almost two and a half years and repeated requests of progress. We voiced our concern at this delay and of the disappointing presentation of the document sent to us (merely a photocopy of an internal letter to other medical staff), and perhaps partly as a consequence we received results for Katrina and Anissa within a few weeks presented as lab reports.

Dylan was the subject of a paper written for The Journal of Dentistry for Children by Dr's Day, Cole and Welbury, of the RVI Dental Hospital - Newcastle upon Tyne, which documented the connection between premature tooth loss and Coffin-Lowry Syndrome. He has coped very well, having lost a great many of his teeth very early, there have been some eating problems and the lack of front teeth definitely compounded his difficulties with speech, but second teeth are now emerging and we are all looking forward to seeing his big beaming smiles once more. Although the Doctors have now moved on, the Dental Hospital Childrens Department continue to see Dylan regularly and also Katrina and Anissa, neither of whom exhibit any sign of dental abnormalities.

In play Dylan is very active, for short periods but remains very unstable and imprecise. He tends now to walk on his toes quite a lot, physio-therapy and shoe inserts have so far provided only a limited amount of improvement.

Dylan enjoys the garden play area and his trike which he now manages to propel without any assistance at all, it seemed to take such a long time for him to achieve this (almost three years) which we can only assume was due to a combination of his late development both physically and mentally, and his lack of strength and loose joints complicating his co-ordination, anyway we can't catch him now!

He has continued to enjoy horse riding with the Tyne and Wear RDA Group, during these activities he retains his attention and good behaviour for up to one hour. Dylan has retained his amicable, resilient nature and continues to display little, if any, signs of frustration when speech or mobility problems overcome him.

Katrina 28/8/98 - Katrina is very similar to Dylan in many respects, physical and facial similarities, developmental delay, and capabilities in general. For some time now she has been subject to the “Startle" or "Drop" attacks which have been described, in the CLSF newsletters by other parents. In Katrinas case these certainly appear to be related to an unexpected noise or physical touch, the resulting fall is extremely abrupt, her legs just seem to collapse completely, almost instantaneously, and she is left sitting down. These falls are entirely different to the regular trips and stumbles to which she is also subject and which we are well accustomed to with Dylan and have been appearing more frequently in the last six months. School staff are aware of the situation and wherever possible we record the details of these instances at home in order to be certain of the causes and to be aware of any stress caused to Katrina. At present she appears unconcerned but we acknowledge the probability of this attitude changing if the falls continue.

Katrina is never settled completely overnight, she appears to merely drift in and out of a shallow sleep from which she regularly awakes with shouts or screams. In an attempt to alleviate this our Consultant Community Paediatrician, Dr. M. Bagott, has recently prescribed Melatonin (2x1 mg capsules daily). This medication has seen only limited use in the UK, though we understand it is more widely available in the US, perhaps any other parents with experience could offer advice on its long term effectiveness.

Katrina’s joints are all extremely loose, as remains the case with Dylan, which is obviously a contributory factor to her difficulties in stability and co-ordination. She very often pays scant attention to activities involving others, or at times herself and she regularly experiences brief absences when she is entirely unaware of her surroundings. At school she is currently in a second nursery year where Lesley Bradley, a full time helper has been appointed. Their relationship is excellent and they have achieved a great deal together since November 2000. There has been some progress with speech, a short trial of the PECS scheme was introduced by Clare Drake, a Community Nurse. This was readily accepted by Katrina and we used it with her until we noticed a striking development in which many more everyday words were emerging combined with, occasionally two or perhaps three words as a statement or request.

By making regular toilet visits at school and at home (as is still the case with Dylan) there has been some occasional successes, but left to herself there often would appear to be no signs which Katrina interprets as a need to go to the toilet. In general this is very similar to Dylan as both have greatly reduced senses of awareness, with little or no attention given to discomfort or minor injuries such as cuts or bruises sustained at play, and neither show any regard for the potentially dangerous aspects of their surroundings whether indoors or out.

Anissa 28/8/98 - In contrast Anissa has, comparatively, little in the way of developmental delay, she is stable and precise in the majority of her movements and her joints and muscle tone are fine, her only physical symptom being the characteristic tapering fingers. There is a noticeable delay in her speech although Anissa has made far more progress in this respect than either Katrina or Dylan. She often makes conscious attempts at conversation but these cannot be interpreted even by close family at times.

Anissa's character is however quite complex psychologically, at times she is very playful and happily active, whilst at others she can be very withdrawn. She does not enjoy independent play, preferring the company of Katrina and Dylan or friends at school. She is currently in the reception class where Grace Downie provides close personal support, with the help and encouragement Anissa requires in order to maintain progress.

Although all three children enjoy playing together, Anissa and Katrina are very competitive and will vigorously pursue each other, or Dylan, in order to obtain an item they desire. At one time Katrina would often become aggressive, grasping at, and sometimes biting a playmate who would not relinquish a toy or book. Thankfully these episodes gradually became less frequent and it is now quite some time since we witnessed this alarming behaviour. Conversely, Dylan is not at all possessive and seldom disputes any request for playthings.

Ref:

Makaton—www.makaton.org - Basic sign language using symbols, simple physical signs to help communication and promote speech.

Melatonin—www.aeiveos.com/diet/melatonin.- Prescribed to establish consistent sleep pattern.

PECS—www.pecs.com - A picture exchange scheme, associating objects with photos or symbols and exchanging the illustration for the item desired.

RDA—Riding for the Disabled Association, providing (throughout the UK) riding facilities for those with physical or mental disabilities.