As published in CLSF News, Vol 10 Issue 2, March 2001
Circle of Friends
Larry & Theresa
Moxley
100 Kentish Place
Madison, AL 35758
256-461-0199
tlmoxley@knology.net
Our youngest son, Matthew, has gone
through an extensive reevaluation process through Children's Hospital in
Birmingham and it has been determined that he is a candidate for a cochlear
implant. Matthew's hearing has worsened to the profound range over the past few
years to where hearing aids just aren't getting him the amplification that he
needs.
The cochlear implant is surgically implanted under the skin
behind the right ear which was chosen since it is his 'worst' ear. The implant
includes a receiver/stimulator to receive and decode the electrical signals and
an electrode array to deliver these signals to the cochlea. A cochlear implant
changes sound into electrical code and transmits this code to the auditory
nerve, and on to the brain where it is interpreted as sound.
Matthew's surgery was preformed by Dr. Audie Woolley at
Children's Hospital on Thursday morning, January 25. Matthew was in the hospital
overnight. He did great! The surgery was delayed a bit (due to an emergency),
but that didn't bother Matthew at all. He was enjoying playing with all the
toys, provided to pacify the kids while they wait. He even got to drive a little
red 57 Chevy convertible back to the operating room (he chose driving the car
rather than going back on a stretcher.) The surgery took a little longer than
anticipated because his mastoid bone was small and dense (appar-ently due to his
many ear infections as a baby.) He finally got to his room at 5 pm. Matthew was
pretty groggy after the surgery and even though he didn't like that HUGE bandage
on his head, he slept through the night with it on. We were able to return home
the next morning, right after they removed the bandage.
The incision is healing nicely. He has had a little swelling
and has been a little clumsy/awkward but that seems to be improving each day.
One of the biggest challenges has been trying to get him to understand why he
can't wear his hearing aid in the implanted ear. I think he thought we had lost
it!
I will be at home with Matthew, the rest of this week while
he recovers. He should be able to go back to school on Monday, Feb. 5th.
The implant will be mapped/programmed (or turned-on) on Feb.
20 & 21st. He has his post-op visit with Dr. Woolley (the surgeon) this
Wednesday in Birmingham.
We are very excited to also begin working (again) with Ellen
Thomas, AVT therapist here in Huntsville. We are very confident in Dr. Woolley
and the entire team. He has been in Birmingham for 4 years now and has performed
~70 implant surgeries.
The device we selected for Matthew is a Nucleus 24 Contour.
This latest version of the Nucleus Implant manufactured by Cochlear Corp., was
just approved by the FDA, for children, on November 1, 2000. As of January 1,
2001, ~30,000 people have received a Nucleus cochlear implant.
We want to thank those of you who have already provided us
with so much information and support during this phase, especially the parents
of other children who have received cochlear implants. We wish the best for you
and your children.
Theresa and Larry Moxley
Philip and Lynda Heald
32 Park View Road
Lytham, Lancashire
FX8 4JE
GREAT BRITAIN
Tel: 01253 739992
Email: philip.heald@which.net
1/6/01
Thank you for sending us the newsletter—we
always read it with great interest.
Here’s an update on our son Jack who has just become a
teenager. He is so big now—we can’t believe the rate at which he is growing.
He is so cuddly and affectionate—you certainly know when you have been hugged
by him! He has his favourite people and has a lovely relationship with them—particularly
Mandy - his escort on the school bus and his 1:1 support assistants at school.
He continues to be a happy, placid boy who enjoys life to the full. We have
recently bought a specially adapted tricycle for him from a company called ‘Theraplay’
- he loves it although he hasn’t quite got the hang of it yet and Phil and I
still have to do most of the work. We’re hopping that eventually he’ll get
the idea that he has to actually push with his feet instead of just being pulled
along!
We’ve still not got a firm diagnosis for Jack but he
certainly resembles many of the children in the newsletter. We had hoped that
Jack would not suffer from drop attacks or fits—he is a very healthy boy
usually and we read all the letters detailing hospital visits and treatments
with great sympathy. However, last August while we were on holiday in Spain,
Jack had a grand mal epileptic fit which really scared us all. We were so lucky
to have a retired nurse of 30 years experience living in our apartment building
who couldn’t have been more helpful and reassuring.
Jack rapidly recovered from the fit (more than can be said
for Phil and I!) and thoroughly enjoyed the rest of his holiday. He’s been for
a brain scan and we are awaiting the results. We were hoping that it was a ‘one
off’ due to tiredness and the heat but unfortunately he had another fit in
November whilst at school—where they are very much more used to dealing with
them than I am—so we will just have to wait and see. Thanks again for the
newsletter—best wishes.
Lynda, Phil, Robyn and Jack Heald.
Alicia and John Bourdon
24B Ranger Drive
Hudson, NH 03051
603-886-9086
Kaila Bourdon is a 9 year old girl with an unconfirmed diagnosis of CLS. Kaila and her family are new to CLSF.
We have joined the YMCA to do aquatic
therapy and help with fine and gross motor skills in the rec room. Kaila also
gets physical therapy in school.
Kaila attends a regular school with modified classes, and a
lot of 1:1 attention.
At age one, Kaila had surgery on her tongue. It was
completely attached to her gums all the way around. They cut 1/2” across and
1/2” back to “make” Kaila a tongue. She also had her tonsils and adenoids
out at about 3. The doctors couldn’t believe how infected and large they were.
She had a history of pneumonia as an infant. She has a lack of muscle tone and
some weight issues. Kaila has no behavior problems other than being a very slow
learner.
Her current level of ability is about 2-3 years behind her
age of 9 years. She still can’t brush her teeth or hair properly. She can’t
wipe right after going to the bathroom, or wash her hair on her own. Dressing
herself is okay depending on how oversized the clothing is. She still walks up
and down stairs one step at a time and is not very coordinated.
She likes to watch movies. Doesn’t like to do activities
that require her to hold her balance.
Greg & Lissa Walter
20863 Tyler St. NE
East Bethel, MN 55011
612-434-4341
LWa1991@aol.com
Dear Mary,
Just finished reading all the recent issues of newsletter,
LOVE the format. Previously I had so much trouble with scrolling, etc. Wish my
printer was not on the blink so I could print them!
My son Jake is doing well, we started on the drug Clonazepam
for his drop attacks and he takes half a pill (0.5 mg) at morning & bedtime.
Too soon to tell if its helping, sounds like this one sometimes doesn’t work
after a while, but I wanted to start with this one due to the lack of blood work
follow up needed in comparison to the Depakote which was recommended by 2 other
doctors.
Jake is in 2nd grade and doing well, at last orthopedist appt
his scoliosis went from 15-15 degrees to 20, but he never stands the way they
want him to, so hopefully it was just a fluke. If not, we may have to get him
into braces.
We are going to Florida Keys in April to have Jake in a 3
week program to swim with the dolphins. I saw this program on a cable TV show,
and a Down syndrome child from England said his first word. That is my dream for
Jacob, to speak. I know it's probable that it will never happen, but if it does,
GREAT, if not, we will have a very memorable and beautiful family vacation in
Florida. We will be MUCH poorer but hopefully the kid's memories will make it
all worthwhile. My husband is going to drive our camper the 2000 miles from
Minnesota to Florida and I am going to fly with all 3 kids to Orlando. We're
going to Disneyland for 1 day (I know it's INSANE) then drive together to the
Keys.
We sent blood work (me, Jake & my daughter Gina) to
someplace in Philadelphia thru our geneticist and they said it was "incon-clusive"
- I assume it means they did not find the mutation in Jake's DNA? I wonder if
this place really knows what to look for - seems like Dr. Hanauer is the
expert??
Thanks for all you do, keep up the good work!
Lissa Walter
A person can have CLS and not have the RSK-2 genetic defect—apparently, there are multiple causes for CLS. In those cases, a “clinical” diagnosis is made based on the similarity of the individual to known characteristics of the syndrome.—MCH
Sherry Medek
621 Pepperbush Court
Wilmington, DE 19808
302-239-1013
Hi Mary,
I don't remember when I last wrote so I
thought I would give a quick update. Ryan had surgery in March, 2000 to remove
the hardware from his back because there was still infection present. His C
Reactive Protein level stayed at about 12 no matter what they did. The surgery
was performed at Children's Hospital of Phila. and went well.
After surgery they treated him IV with Vancomycin for almost
4 weeks and his CRP dropped to below 1. His surgery was scheduled for June to go
back in and repair the large psuedarthrosis that is causing him all the pain.
Two days before surgery he was diagnosed with Cardiomyopathy. Surgery was
cancelled because they thought he was too high of a risk.
After 7 months of heart medication, it has been decided that
we will proceed on with the surgery. He is still a high risk due to the heart
but his quality of life has been so impaired. He is now fulltime in a
wheelchair. His surgery is scheduled for 2/13/01, again at CHOP by Dr. Denis
Drummond.
There is much discussion as to how to fix the problems either
anterior or posterior and to date that decision has not been made. If it is
posterior he will spend six weeks in a Clinitron bed after having plastic
surgery on his lower back. There is not enough tissue left after 4 surgeries to
cover the hardware.
We are not looking forward to any of this but feel we have no
other choice. I will keep you updated and please say a prayer for him.
Fondly,
Sherry Medek
Jennie Rios
5605 Nona Way
Sacramento, CA 95824
916-393-3351
I received a phone call from Jennie who is looking for advice on how to deal with schools who are not providing adequate care for your children. If anyone has advice for Jennie, please contact her or myself and I will post the answers in the next newsletter. Thank you. –MCH
James & Dana Bellosi
1170 Amber Way
Owings, MD 20736
301-855-0413
Dear Mary:
Just a note to update you on Gabrielle's progress. She is now
9 years old and still attends the Country Day School here in Calvert County,
Maryland. Jay and I made the difficult decision to seek residential placement
for her in the Benedictine School in Ridgely, Maryland. The tuition is $85,000
per year. The State of Maryland is not complying. While we were categorized as a
"Crisis Household" we have received no help. We are seeking legal
action now.
Gabrielle is beginning to show signs of puberty. She is
getting so big and her mood swings are horrible. She has begun having seizures
on a regular basis. She is taking Tegretol to control them. MRIs show nothing.
She is taking Risperdol for behavior as she has become quite aggressive. She
will scratch, pinch and push me. Still no verbal communication. Still lots of
autistic qualities. She has to be sedated for routine blood exams. It is a very
challenging situation here.
I can relate with Ms. Malak's concerns about medicine. I
refused to experiment with the behavior meds until now. Gabrielle's pediatrician
had recommended behavior meds since she was 4 years old. I felt just awful
"doping her up." She is much calmer at school this year and will
tolerate a lot of hand-over-hand activities. Before she would attack her
teachers. Now acts of aggression are few when she is on the meds. The Tegretol
has caused her to gain a lot of weight. Approximately 4.6 pounds every six
weeks.
She went from a size 7 pants to a size 12 in 3 months. It is
alarming and I have to monitor her food (fat free, low calories, etc).
She chews constantly - anything she can get a hold off. Bad things. Glass, wood,
paper, etc. She has only lost 5 baby teeth. The dentist said she is very slow at
losing them. No signs of tooth decay but a lot of wear on her front teeth.
Probably from chewing on her brother's matchbox cars.
I am sorry I do not have a more positive report. I keep
saying "That what does not kill us makes us stronger." Its a motto
I've come to use everyday. Hope you and your son are doing good. Take care.
Dana Bellosi
Carolyn Banchero
1735 Lincoln Avenue
San Jose, CA 95125
650-584-1942
Mary,
My son, Alexander (8 yrs old on Feb 23rd), has CLS - just
diagnosed last year. He is not talking yet, and not even remotely interested in
potty training. I am currently fighting with the school district to get him
additional therapy. It seems they want me to shove it down their throats, and
are making it extremely difficult for me. He is also starting to develop
scoliosis.
I feel bad that I haven't really written and introduced Alex
and myself, but I think I've just been so overwhelmed with everything that I
just couldn't bring myself to do it. It seems that it's much easier to live it
than to talk about it.
Thank you, Mary - for taking the time out of your life to
allow us the opportunity to connect with others that are in the same boat. In
it's own bitter-sweet way, it's almost comforting to know we're not alone.
Carolyn Banchero
Ms Tammi Lay
16 Anchor Court
Perryville, MD 21903
410-658-3111
Well, it seems that things have not gotten
much better for Katie. We went through the January 31 spinal fusion again, only
to immediately
develop a serious infection again. They had to due a second operation and placed
antibiotic beads on her spine; they also grafted an artificial bone graft which
may be more resistant to the effects of infection. Also, during the first
surgery, they positioned her wrong and she suffered a brachial plexus injury
that has left her right arm paralyzed.
As I write this to you, I take a deep breath, this experience
has been surreal and tragic for Kate. It has started to take a toll on her. She
has developed a lot of nervous ticks and feels her arm will never work again.
She has become very depressed and frustrated. She came home after a three week
hospital stay - it was that or inpatient rehabilitation - which I don't feel at
time is good for her mental health. I have learned some nursing skills. Kate is
given seven intravenous antibiotics a day through a central line. This will
continue for six weeks. She begins occupational therapy on Friday. I will keep
you updated, and on a positive note, this situation is not the "norm",
but please, never minimize the effects of scoliosis.
Scoliosis is a serious condition if left untreated. However, corrective surgery is not without risk as well. Take time to research your options, and find out about the success rates of your orthopaedic surgeons on special needs kids. - MCH
Robert & Kim
Bockhahn
2601 Route 39
Arcade, NY 14009
716-492-5042
kimbockhahn@yahoo.com
Dear Mary,
I’ve been going to write for sometime. The last time I
wrote I let you know that we were going to Cleveland clinic w/Missy. And also to
let you know that her drop attacks had turned to almost seizures. When we
arrived at the Clinic for the doctor’s visit, he admitted Missy to the EEG
monitoring unit to rule out Epilepsy. Missy was in the unit for 4 days with an
EEG monitor & camera on her at all times. Epilepsy was ruled out definitely,
but the seizures she was having were called startle seizures.
These doctors were familiar with drop attacks and felt that
this was the right diagnosis. The thing that did puzzle them, Missy didn’t
have startle attacks until she was 8 or 9 years old. And then they progressed
instead of degressed, Usually they will grow out of them not continue to worse.
Before we were released an MRI was scheduled. Missy has white matter disease of
the brain. This is something that we knew but none of the other doctors had done
anything with. But these specialists had never heard of this with Coffin-Lowry.
They checked her for a storage disease (muccopolysaccahrides). All tests came
back normal. So Missy has something to add to Coffin-Lowry, white matter disease
of the brain. Please let us know if there is any other CLSF child with white
matter disease.
I was so stunned to read the Dec issue of CLSF. Kathy (33) having seizure
symptoms. Missy went from having 15-20 drop attacks a day to having these
seizure attacks. Which we now know to be startle seizures.
While we were in Cleveland it was decided to try different
meds on Missy. She was previously on clorazepate. Then to klonepin, then
klonepin and depakote. At this time she is on Clomipramine, which is an
anti-depressant and not an anti-anxiety med. For right now it seems to be
working.
Before Cleveland Missy was dependent on her wheelchair for
security and safety. At school, stores and everywhere but home. The start of
xmas vacation she was no longer using the wheelchair at school or the stores.
She was walking the halls, joined chorus, went to the stores willingly and even
sits at the table without having 3-4 seizures while eating. She has commented
“It is no nice to have my old self back!” I had tears in my eyes when she
told me that.
As with any drug, we don’t know how long it will last, but
we are enjoying every minute of it. I hope this information helps somebody.
Thanks for the newsletters, especially the toothbrush article. I thought we were
the only ones.
Kim and Bob Bockhahn
“Startle seizures” (also known as hyperexplexia or
hyperekplexia.) usually do not present in CLS until age 4-10, then gradually
worsen over time. I don’t know how bad they ultimately get or if they
eventually level off, because we usually control them with medications before
that happens. They are not seizures in the classic sense and usually do not
respond to traditional seizure medications.
I am not familiar with “white matter disease” of the brain, although there
have been articles published about people with CLS who have anomolies in the
white matter. This may be the same thing. Most MRIs come back normal, so this
may be something that only occurs occasionally with CLS. -MCH