Nemaline Myopathy Support Group

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NM Newsletter #1

Krystyn&ChelseaKrystyn Plymell started the original Nemaline Newsletter in 1990. A great number of families contacted her over the years, with a few actually meeting up and becoming good friends. Unfortunately, Krystyn does not have the time she would like, to spend on publishing the newsletter. And therefore has passed on to me, all the paperwork she collected over the last 10+ years. We are all very grateful to Krystyn for starting the NM publicity ball rolling and wish her and Chelsea good health for the future. Krystyn lives in Kansas, and can be contacted at is krystyn.plymell@gmail.com . Dave (1999)

Volume 1, Issue 1, July 7, 1998

ChelseaChelsea Lauren Buchanan was born on July 18, 1992, at Alexandria Hospital~ in Alexandria, VA. She was a full term, normal pregnancy. There was little movement while in utero, but no one suspected anything to be wrong. She was born c- section and was breech. Her apgar was 7, and her cry was very weak It was not till she was fed that we knew something was wrong. She had no suck or swallow, and choked when the nurses tried to feed her. She was put on an NJ tube and was tube fed for a few months. After countless hours of O.T. and exercises she learned to suck and swallow on her own. Once she could eat well on her own the tube came out. She started very young, 2-3 months old, on thick milk with rice cereal and was introduced to baby food at 4-5 months. She could swallow thick liquids but still had a hard time with the thin regular ones. By the time she was 10 months old she was eating cheerios, cut fruit and veggies, etc. Today Chelsea can eat just about anything she wants. Her appetite is good, three meals a day plus snacks, but her weight is still under normal. She is always going to be under, I suppose?

Chelsea walked between 2 and 3 years old. It is amazing she did, not only because of her nemaline, but because her right hip was dislocated at birth. She had surgery before her 2nd birthday to fix her hip. She was attempting to walk before the surgery and had to start over again after her operation. Her head control was not as bad as other children affected with nemaline but her spine had a curve, and as she got older it became worse. We tried a variety of TLSO body jackets. Between 3 and 4 years old she had a Halo put on, and finally at 4 and 1/2 the doctors and myself made the decision to fuse her spine. It was a long, long recovery but Chelsea is again amazing and came through like a champ. She learned to walk again for the 3rd time and is stunning the world with her accomplishments. Chelsea attends a regular elementary school. She can get around by herself but for safety reasons she has a walker. She is gifted in math and reading and is enrolled in special upper level classes for this, while still remaining with her peers and grade level. Her speech is excellent and clear. She can dress herself, go to the bathroom by herself (while at home), and each year becoming more and more independent. Chelsea fortunately has never had serious pulmonary problems. She had mild sleep apnea at birth but nothing since then. Recently she made the headlines. Through the MAKE-A-WISH Foundation, she entered a contest and won. She wrote a letter to the Universe and NASA picked 65 letters to go up in space with its 25th mission. Five of those were read by the astronauts and Chelsea's was one of those five. (see below)

Chelsea's letter to the Universe!

Chelsea"I wish people would help other people! There are people who are old and sick and can't do everything for themselves. They need people to hold their hand and say I love you. It makes me happy to see people laugh and smile!"







Joshua Gibson

"Rest in Peace" 2/3/78 - 5/9/97

"IF I HAD A WISH"
HANDICAP


I WOULD CHANGE A LOT
I WOULD CHANGE MY HANDICAP
AND I WILL BE HAPPY
I WILL NOT BE TEASED
AND WILL NOT BE PUSHED DOWN
NOR BE TORMENTED


I WANT TO DO THINGS
I WANT TO PLAY BASKETBALL
I WANT MY SPEECH CLEARED UP


PEOPLE STARE AT ME
I HATE WHEN PEOPLE STARE AT ME
PLEASE! DON'T STARE AT ME!


I WISH TO BE STRONG, STRONG
SO I CAN CLIMB MOUNTAINS, RIGHT NOW


I'M TOO WEAK
I WANT TO SWIM FAST
I LIKE HELPING PEOPLE
GOD WILL HELP ME TOO


THESE ARE MY WISHES
I HOPE THESE WISHES COME TRUE
FOR NOW THEY'RE ONLY MAKE-BELIEVE

The following letter was written for the newsletter by Dr Carina Wallgren-Pettersson, M.D., Consultant in Medical Genetics, Finland

I am drafting this third newsletter to families with nemaline myopathy because several persons have contacted me recently asking about potential benefits or harm of tyrosine treatments for nemaline myopathy. The questions have been raised following publication in the Journal of Orthomolecular Medicine of a report by Dwight Kalita, Ph.D., about the beneficial effects on himself and his son of tyrosine treatment for nemaline myopathy.
I have contacted my colleaugues in the ENMC (International Consortium on Nemaline Myopathy) as well as some colleagues with some expertise in metabolic disorders, and found out that if patients have no impairment of liver function, this kind of treatment, if not overdosed, is not likely to be harmful. Colleagues in Pediatrics, however, stressed the opinion that for children, no treatment shoud be recommended which has not been extensively tried by adult patients and found to be safe. (For Dwight Kalita's reply. See issue 2.)

Update on Nemaline Consortium

The Nemaline Consortium, sponsered by the European Neuromuscular Center (ENMC) met again in the Netherlands in October 1997. It is now evident that there are at least three abnormal genes associated with nemaline(NM:NEM1,NEM2, and NEM3. NEM1 is also knownas the TPM3 gene and several mutations(abnormailities) have been identified in patients. TPM3 normally is responsible for production of tropomyosin, a protein important in muscle contraction. Most mutations in TPM3 are inherited as dominant traits, i.e.: parents pass the disease to children. However, there is also a possibiliity that one or more mutations may be recessive, so that siblings may have the disease, while parents are carriers without symptoms. Scientists in the Consortium have located the NEM2 gene on chromosone 2 by studyingpatients, but they have not identified the abnormal gene. Work is ongoing to find this gene. Several genes in the vicinity of NEM2 mst be studied for mutations; this is laborious work but may result in key discoveries in the next few years. Patients with NEM2 seem to have a recessive form of NM. NEM3 may be the most severe form of NM, affecting newborn infants and causing early death from respiratory complications like pneumonia. This gene has not been located and will require careful study as well. These cases are much more rare than most NM. The consortium will be looking for cases from around the worldin order to move this research forward. Protein chemists among others are interested in determining why an abnormality in the tropomyosin gene would cause the weakness seen in NM patients. This interest is directed at studying the production and function of contractile proteins, the molecules that are active during muscle movement. My lab is particularily interested in the production of these proteins during development in tissue culture. We have obtained the abnormal TPM3 gene and hope to transfect normal muscle cells with it in the next six months. If we are successful, the tissue culture system will give us a model of NM and perhaps give us some clues as to how the nemaline rods are formed. The keys to the succes of the consortium are an international communication and referral of newly diagnosed cases for participation. Anyone can contact me in Dallas or Alan Beggs in Houston.

Dr. Iannaccone, MD, FAAN
Professor of Neurology
University of Texas
Southern Medical Center Director of Neuromuscular Disease and Neuro-rehab.
Texas Scottish Rite Hospital for Children

Miriam Clint Emmett
Mirriam Spiegel
February 16, 1993
Clint Drake
May 21, 1991
Emmett Fuerst
February 1, 1996
Dakota
Nicholas
Tyler
Dakota Williams
March 29, 1995
Nicholas Marrone
February 14, 1996
Tyler Braginton

Plant a tree for NMSG

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Purchase a tree to dedicate to anyone with NM and help us raise funds for our next convention.

Planting a tree is a great way to mark an occasion or to remember a loved one. I am offering people the opportunity to plant a tree in celebration of a family member or friend with nemaline myopathy and at the same time raise funds for the Nemaline Myopathy Support Group.
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