Circle of Friends

Dear Mary,

   Enclosed is a long overdue donation to help you with the newsletter. The work that you do is so important and is so beneficial to all the parents of CLS children. We have been receiving your newsletters since our son, Kevin (who is now 7) was 2-1/2. That is when he was diagnosed at Children’s Hospital in Boston, MA. I began writing to you so many times but was never able to finish the letter. I have had a very difficult time accepting this overwhelming parental responsibility of raising a special needs child. To this day I find a lot of it very painful.
   Kevin is a delightfully happy and laid back child, but he is also very dependent on us to care for him and unable to do much for himself. He has no speech and is now using a PECS communication book to let us know his needs. It has only been within the last 6 months but he is picking it up very quickly.
   His health is very good now—as a small child he had lots of issues. He had bronchial issues, RSV virus, chronic ear infections necessitating ear tubes, sinus infections, mucous buildup and worst of all seizures. He is now very healthy—seizures seem to be under control with medication. He walks, runs, goes up and down stairs with minimal assistance and just seems less “floppy” than when he was younger. He understands almost all that is said to him but can’t communicate back. He is not toilet trained much to my dismay. I don’t know where to begin. He is always wet or messy—still uses 6-7 diapers a day. Hopefully in the future, that is a goal for us.
   Kevin goes to a Special Ed Classroom with only 8 children and gets PT/OT/ Speech and minimal sensory integration care. He also attends occasional typical classrooms with an aide for art or music. He loves his school and teachers and they love him also. He has a great smile and never cries or has temper tantrums. I have nicknamed him “Sunshine”.
Anyway I wanted to thank you for all your hard work and great information in every newsletter. Please keep up the good work. We really appreciate it.

Paul and Patti Wesolowski
 

Dear Mary,

   I just had Alex diagnosed with scoliosis. We are waiting to hear back from a specialist as to the degree of the curvature. If not for your newsletter, I would never had known to look for it. Thanks again Mary.

Carolyn Banchero 

   I have to tell you about Allen's latest visit to the doctor. We had been to the doctor on December 18 and were told be really be thinking about putting a feeding tube in Allen. He had virtually gained no weight in the last 3 years. He still weighed around 48 pounds..(Remember he is 12 years old) He is also around 48 inches tall. He is approximately the size of a 5-6 year old. He eats great, but he is hyperactive and must have an extremely high metabolism. We have aggressively been working on making "every bite count". We have added Ensure puddings, four times a day, added oil, sugar, honey, instant milk, gravy, syrup, and anything else we can in his foods to get some calories down him.. I have got his breakfast to around 700-800 calories.
   We went to the doctor yesterday and in three months, he has gained a little over 2 pounds. He has grown an inch taller though, so we are not out of the woods yet, but the doctor is willing to wait and see now. We have had a wonderful last 6-9 months. He has not been sick all winter!!!!! Maybe that is why he has kept the weight on :)
   Thank you so much for the newsletter and if you ever need info, please let us know.

Denny and Lanette Sessions
 

   Tim is having a real hard time with reflux. I was wondering what other parents who have had reflux issues are doing?
Thank you for the information as always my family appreciates all your hard work and dedication.

James & Kristina Smith
 

   Yesterday was Matthew's 2 week Cochlear Implant (CI) assessment at Children's Hospital in Birmingham. His CI has been 'turned on' for two weeks now. The initial stimulation was conducted on Feb. 20 & 21. Matthew did great! The audiologist was able to map (program) 14 of the 22 electrodes in the cochlear of his implanted ear on the first day. She completed the mapping of all electrodes the next day and even got in a hearing test. The hearing test showed responses within the speech banana (region on an audiogram where spoken language is heard). This is a BIG improvement for Matthew. Before his implant (aided with hearing aids), Matthew's responses during a hearing test did not fall into this region particularly in the high frequency range.
   Matthew has started Auditory Verbal (AV) therapy again. This therapy will help Matthew better understand the new sounds he is hearing. I had heard that the sound one hears via CI is different from 'typical' hearing and this was proven to me last week in one of Matthew's therapy sessions. Matthew was sitting on the floor and Nancy said to him 'Stand up, Matthew'. He turned and looked at her (he definitely HEARD her), and did nothing. She repeated this two more times - still no action from Matthew. Then Nancy did the sign for 'stand up' and he immediately stood up. It was difficult for me to comprehend that he understood certain words before and now post-CI, he hears these same words but doesn't understand what they mean. This must be confusing for him too, but he is taking it all in stride.
   Matthew seems to really like his new CI. He wants to put it on each morning and wants to keep it on all day (he wears a microphone hooked over his ear which is attached by wires to a transmitter, which is magnetically attached to his head (the implanted device which also contains a magnet is just under the skin) and to a processor/computer which is the size of a deck of cards. He wears the processor on his back in a little pocket sewn onto his undershirts. (Thanks to my sister, Linda, for making these shirts for him!) This has definitely been a learning experience for us as well. This new technology (new to us anyway) is amazing.
Send those battery coupons our way! We use 1 AA battery every day in Matthew's processor. We tried the rechargeable ones, but they didn't last long enough - and really were too much of a hassle!

Larry & Theresa Moxley
 

   Katie was readmitted to Hopkins on 3/6/2001. She began running fevers on 3/2/2001, the home health nurse was in and the doctor was informed. She went to see the doctor on 3/5/2001. They did a bunch of xrays and blood cultures and sent her home. Her fever rose to 103 and after contacting the doctor she was a direct admit- back again. After several days, they realized she was showing signs of a severe reaction to Zosyn - the antibiotic she was taking through a Central Line, an antibiotic for the post operative infection. They stopped the drug immediately and prescribed an oral regimen and sent her home. My insurance won't cover inpatient rehabilitation, which is what the doctors are requesting I do - she now has problems with her bowels and vomiting. She has trouble walking due to the paralysis - it has taken away her ability to balance herself. Katie, now is showing signs of having a really rough time. It seems as though they have broken her spirit. I don't see that smile, eagerness to tell me about her day, and general sweetness our kids are known for. Please keep us in your prayers.

Ms Tammi Lay
 

Dear Mary,
   My name is Michelle and I am a 24 year old single mum of 2, Shanelle 3 yrs and Brandon 2 yrs old. It seems my daughter Shanelle has Coffin-Lowry Syndrome and as my doctor, Health visitor and all other professionals which I have approached know nothing about it, I am having to find the information myself.
   Could you please print a small section in one of your future newsletters saying a big thank you to Bob and Monica Mitchell, grandparents of Dylan, Anissa & Katrina, also with CLS, for providing me with your address.
   Being on my own, with not much support, I would be truly grateful if you could add me to your mailing list. Unfortunately, I cannot get access to a computer and wondered if you had any ideas how I could raise money to buy one. Do you know of any charities which may be able to help? I just want to be able to keep in contact with you and other families with CLS as I need to educate my doctor for a change!
   It seems funny writing to a total stranger, yet feeling a bond. (You must think I’m mad!). After 3 years of wondering why my little girl was a bit floppy, slow and different from your average 3 year old, things are finally unfolding but we’ll never be 100% sure.
I have been told that the blood test we need to have done isn’t available anywhere in Europe and could be years before we find out. That means she can’t have a 100% positive diagnosis. Do you know any ideas on what we can do? I feel I need to know because if I’m a carrier, I could have another affected child, even though my son Brandon is unaffected.
   I’m not sure if you ever answer letters personally or not but it’s a great relief just having someone to write to who knows about CLS.
Please print my name and address (if you can) just in hope of some contacts, tips and ideas but most of all support.
   Thank you so much, looking forward to hearing from you!.

Miss Michelle McGloin
 

Dear Mary,
   Just wanted to say thanks for your newsletters and support. Our son Andres or better known by all, “Dude”, will be 13 next month. He attends Arizona State School for the Deaf & Blind. He loves it. He rides the bus to and from. Every morning he watches and waits patiently for it to come.
   He doesn’t speak, is not potty trained and they are considering a second fusion (doctors didn’t go far enough). Doctors are considering, but we aren’t. The 8 hour surgery went fine; it was the floor staff that didn’t believe an over-protective mom when I tried to explain something was wrong. He ended up in a drug overdose seizure. And while I was laying on top of him trying to control the seizures screaming for help I see two nurses aides debating on what to do. By the time we got to ICU he had turned blue and then it took almost an hour before they called his primary surgeon. All of this confusion along with the stress of having the tube shoved down his throat and IV’s jammed in (everyone was in a panic) all while he was awake was too much for him. So as you can see we don’t want to go there again. Sometimes we can see he is in pain, so we give him Children’s Motrin which seems to work.
But with these couple of problems, I couldn’t imagine life without our special happy camper. He is always in motion. He loves to help anyone anytime, from housework to fetching supplies. He loves to go, even if it’s to the dump. He loves to go to restaurants. He will even remember the waitress/waiter and sometimes if he is really hungry and service is slow, he will stop the waitress by putting his arm out as they walk by. This works for me.
   One special trick he can do is know which key fits what. You can give him a ring of 10 keys and ask him to open something he knows which one works or even if it’s on another ring. He loves animals, especially his dogs. He loves to go on rides on his quad or anyone else’s.
   Well enough about our happy little person.

Patricia & Danny Ruedas
 

Dear Mary,
   I thought I had better write to you as Mark is doing very well. He is 5 years old now. He had his birthday on the ninth of January. He has just started to walk but is still a little wobbly on his feet.
   Sometimes he hasn’t any sense of danger and if he‘s not kept an eye on he would fall down the stairs.
We are moving on the 17th of January. The house is really nice and it will be a lot better for Mark.
   He has one brother - he is ten nearly, and a sister - she has just turned 13. They are both very good with Mark.
   He is meant to have a back brace as he has a little scoliosis, but he was meant to get a new one in June but it was made wrong, so it had to go back and he had to have another custom made and that was made up it turned out wrong again and had to have some adjustment made to it. He had a fitting just before Christmas but I haven’t heard any more.
   I have enclosed a photo of him. He’s a lovely little boy. Me and his father got divorced four years ago now but he still won’t admit to anything being wrong with him, and won’t take him out in his special buggy that he has. I am taking him back to court to get my court order changed as he hasn’t been sticking to it. I’ve been on anti-depressants all summer as I’ve been depressed because of him. So I think that this move will do me and the kids a world of good, as he only lives four streets away at the moment.

Jacqueline Blyth

Dear Mary,
   Andrew started his 6th grade year well, in the same class he had been in the prior 2 years. Him and one of the girls went with two other classes to 6th grade camp! His teacher had to pretty much pry my hands from him! It was an exciting trip though, all is friends from the regular ed were there.
   His school year was pretty uneventful, aside from his falling and medications. Around the time of changing his medications he started to become dependant on diapers again. We used inserts during the day since it wasn't all the time and diapers at night. Though he didn't always need them. Now its diapers every night but pretty independent in the day.
   Towards the end of the year we started getting ready for the junior high transition, which came harder to me than anyone else in our house! We took him to meet his new teacher and aids there. He also had the opportunity to know one of the aids away from the classroom, she helped provide child care when a friend and I tried to get a support group going but unfortunately there wasn't enough parent interest!
   About two weeks before school was out we all found out the teacher would be leaving for another position! So we didn't know what to expect then.
   The really hard day came the day before the last day of school, GRADUATION! We all were crying of course, Andrew and his friend were on the front page of the paper with their teacher. They all made little caps and wore their best outfits. We have his certificate framed.
   During the summer he had an accident with the BBQ. He laid his hand on the lid and got 2nd degree burns! Only he didn't feel it enough to let anyone know. After he did it he went for a ride on a friends horse. When he was getting off it was noticed because the top of his left hand was one big blister. We immediately treated it and it took about 2 months to completely heal. You can still see the scar, but because we treated it well it’s not to bad.
   Summer was long because he went from year round school to traditional schedule. It leaves a 2 month gap in-between. With year round the longest he was out was one month. Finally the first day of school came. I let him ride his bus, then me and my husband went to his class after dropping off our other kids at school. I was glad to see that I wasn't the only parent having to be kicked out of the class!
   He recently had is IEP and will be getting his own aid due to safety issues with his falling and seizures; also to help keep him on task while working. Andrew uses his wheel-chair a lot now. Aside from the restroom across the hall, he doesn't leave the classroom without it.
   Due to having seizures at lunch he also sits in it during that time as well. So I am glad that he will be able to have someone available to him at all times. 
   While at home Andrew is mobile but still crawling a lot. He wears foot braces due to his arches falling and they help him walk. And for the last few months he has also been wearing a brace on his right hand and will need one for the left side soon. When he crawls he is turning his hands under and crawling on the tops of them.
   He likes to play outside, but that's really hard since he needs his chair so much. We are waiting to hear if he will be receiving a bike from a local agency. He loves to ride them, so I'm trying to get one that is adapted to him.
   The other day I actually took him roller skating at the local skate place. We took our other children and he begged us to go. So I had the staff tighten the wheels for him and took him around! He made it 4 times before he was tired enough to stop. He was so proud!
He will be getting dental "surgery" in the near future to clean his teeth and repair any problems. He now has lost both top middle teeth from falling injuries. We also have the whole toothbrush issue. But his dad got him one of those little electric ones shaped like a car and he actually likes it! He either uses that or his Buzz Lightyear one.
   Well that pretty much has been our last couple years! He just keeps on going! I really look forward to getting the newsletters every month. Take care of you and yours,

Kathy Davis