Everything MTM for the newly diagnosed.

This post will contain the info that we had to search for.  It is a continuing work in progress. I hope it helps.

Background: 
William was born with severe hypotonia. The doctors had difficulty diagnosing the cause of his problems. He was on a vent for a short period of time and then transitioned off of breathing assistance. He had silent aspirations when we attempted oral feeding. We requested a G-tube as we were not comfortable with tube through the nose. After two months in the NICU we were sent home without a diagnosis.

Getting to a Diagnosis:
It took nearly six months to get a diagnosis.  Initially, the physicians believed William most likely had Prader Willi Syndrome.  Once prader willi was ruled out; they ordered tests for SMA and congenital myotonic dystraphy.  All of these tests only required a blood draw.  We began treating with a neuro-muscular specialist who recommended an EMG and biopsy.  The EMG was essentially normal.  The biopsy revealed centronuclear myopathy suggestive of myotubular myopathy.

A blood sample was then sent to the University of Chicago.  We have been told U of C is the only facility that will run a genetic sequence for myotubular myopathy.  The genetic testing confirmed X-Linked Myotubular Myopathy or MTM1.

Due to the results they have requested that mom be tested to further confirm the X-Linked diagnosis.

Early Management:
We have been fortunate to have a pediatrician who has handled many complex cases.  Her philosophy is to be the aggressor against all colds and the flu.  It is her belief that prevention and early intervention will help prevent pneumonia and other conditions that often prove fatal with those with MTM.

Feeding:
William had a nasal tube while in the NICU.  The physicians offered to place a G-Tube prior to leaving the NICU.  A G-Tube is a nozzel that is placed into the stomach and exits the abdomen area.  You can then "plug in" a feeding tube into the G-Tube and the food is pumped directly into the stomach.  This eliminates tubes taped to the face and the re-positioning of the nasal tube.

Bottle feeding was started prior to a diagnosis.  William suffered from silent aspirations.  He would not cry, cough or show any signs that formula was entering his lungs.  The problems revealed themselves during a "swallow study."  In retrospect, William struggled more with breathing and cold like symptoms when attempts were made with oral feeding.  We have now stopped all oral feeding attempts as we do not wish to get him sick during the winter months.

Where to Go for Help:
Here are the websites.  Some are better than other.

http://www.mtmrg.org/
This link has not been updated recently, but is widely considered one of the best single source of info.

http://www.mda.org/
The MDA provides lists of physicians and a multitude of other resources.

http://www.myotubulartrust.com/
This is one of my favorite sites.  Tons of information and frequently updated.
Only site to give harsh facts. 1 in 50,000 - 1 in 100,000 children affected.
Only 20% of boys with x-linked myotubular myopathy survive to 1 year of age.
Only 1% lives past 10 years of age.

Great info on research, links and personal stories.  This site is scary for those recently diagnosed, but it does a great job of answering the hard questions that are tough to discuss.

http://www.joshuafrase.org/
Great Source of Info.
The Frase Family has done so much for all of us.
This is the organization that is raising funds for our kids.

BEST SOURCE FOR SUPPORT AND TO GET QUESTIONS ANSWERED
http://www.facebook.com/groups/MtmCnmFamilySupportandDiscussion/
Join this facebook group.  The other parents are the single best source of info and support.  Info on just about all of the day to day questions can be found in this group.