We would like to apologize for waiting so long to send you another newsletter. We were busy sending MTM information to each hospital in the US that has neonatal or pedi services in hopes that more MTM children get an earlier diagnosis and the very best medical support that is possible. A few other moms have helped with getting this information to several hospitals in Canada.
The pulmonary doctor tells us that it has been a very bad year for RSV. From talking with many of you we can tell this is right. Lots of our kids have been sick with RSV this season.
One of the things we started using while XXXX was in the hospital and after we got home was a chest percussor. This really is easier for us to do CPT because it seems to be more comfortable to XXXX than our cupped hands and once it is on XXXX's chest we just move it around and he can't get his grubby little fingers in the way like he does when we use our hands. He also sleeps through CPT with this percussor and he could not sleep through hand CPT. They are not cheap...about $450...but we love it.
Since there are so many things that our sons can not do we want to pass on one thing that may work for your sons when they reach 1st grade. One child is in the Boy Scout program (Tiger Cubs for 1st grade) and it has been wonderful. He was in the Christmas parade and sat in his wheelchair on the flat trailer that we decorated as our float. The activities that the scouts do can be modified and these groups of scouts are usually very small (4-7 boys). His scout leader is a fireman so they have been to the fire station several times....twice to help sort food for the needy. They do lots of "go and see its" such as the police station, the horse stables to learn about horses, and the newspaper to see how a paper is printed.
There has been some misinformation about MTM being spread sround. Unfortunately some of the information is being spread by doctors. We asked Dr. Gail Herman to write a short article explaining MTM and it is enclosed in this newsletter. Dr. Herman is leading the MTM research being done in Houston. We will visit with her later this month and get a research update but they are very close to locating the exact gene that is defective.
We have found 55 boys with MTM since we started our search. As always many of the parents were told that there probably aren't anymore MTM kids out there. That is why the information we are sending to hundreds of hospitals is so important. There is not enough information on MTM available to parents faced with this muscle disorder. We have 2 MTM families in England that we share information with and have found a 19 year old here in the US.
We have also had some very sad deaths in the past months. Our sympathy and our prayers go out to those families. These boys are not on earth any longer but they certainly knew that they were loved while they were here and are still loved and missed now.
One of the things that Dr. Herman and the hematology researchers are checking into is the link between red blood cells being destroyed prematurely in some of the boys. There may be a link between abnormal red blood cell life span and MTM. If there are any boys that have had problems with gall stones please call Dr. Herman or me.
Some parents do not want vents because they think that a trach is needed. Non-trach ventilation is becoming quite popular and our respiratory therapist gave me some articles to share if anyone is interested. Enclosed is an article about non-trach ventilation and some parts or articles about studies done by medical groups. If you want more information we will be happy to send it to you.
If there are parents who do not have any nursing help but would like some or parents that do have nursing but would like to save part of their insurance money spent on nursing coverage please check out the model waiver program for your state. This is available through either the Dept. of Human Services or Dept. of Health. It has different names in different states but each state should have a model waiver program (sometimes called a "Katie Beckett" waiver) for handicapped kids. If you need help with this just call.
If anyone wants a complete list of the researchers that are doing work on MTM both here in the US and in Europe let us know and we will send it to you. If anyone moves, changes phone numbers, or gets an E-mail address please send it to us so we can keep in touch.
We think of all of you often and all the MTM families are in our prayers every night. Please let us hear how your children are doing and send us a picture if you can.
Myotubular Myopathy causes weakness in the skeletal muscles which not only affects the patient's mobility but can also affect the respiratory system. The intercostal muscles (muscles between the ribs) play a major role in respiration and are weakened by the myopathy. An article entitled "Respiratory Rest Therapy" (attached to this newsletter[not on this internet page, reference available upon request]) discusses research on the effects of Respiratory Muscle Rest (RMR) in patents with inspiratory muscle weakness. Their research has shown that "inspiratory muscle weakness predisposes an individual to inspiratory muscle fatigue." Inspiratory muscle fatigue can then lead to shortness of breath, decreased oxygen saturation, increased PCO2, and decreased alertness, all due to inadequate ventilation.
RMR can be provided in many ways. The two most common ways in children with Neuromuscular disorders are by-pap machines used with a face mask and with ventilation used with a tracheostomy or nasal cannula.
There are varying degrees of muscle weakness associated with Myotubular Myopathy and other neuromuscular disorders. Some patients benefit from RMR at night and/or when recovering from an illness while others are dependent on ventilation 24 hours a day. Some patients require no RMR.
A lot of the kids with X-linked Myotubular Myopathy find that RMR at night while they sleep (and full time when they are sick) allows them to maintain very active schedules while breathing on their own during the day.
For example, after several unsuccessful attempts at weaning from a ventilator, one child had been sent home with a home ventilator set at rate of four breaths per minute. Severe weather left the family without power for a few days; the ventilator ran off batteries but the air conditioner did not. In order to make the child more comfortable during the hot, humid days the mother increased the breath rate to ten breaths per minute. Within a short period of time the parents were amazed at the improvement in the child's mental and emotional condition. He became much more alert, smiling at his parents, responding to their voices and attempted to communicate. Since then he has made progress mentally and physically where before there was very little response.
Another affected child using RMR is active in Cub Scouts and attends public school where he maintains an a A average.
While RMR can't guarantee straight A's it can provide the rest necessary for a productive life.
[The author is a registered nurse with over five years experience caring for a boy with X-linked Myotubular Myopathy.]