Fighting colds

We are now on the third day of fighting a bad cold. Lots of congestion and coughing. The cold is serious as these are often fatal to MTM kids. Our pediatrician, who is wonderful, has been aggressive. We are doing multiple breathing treatments, steroids, and antibiotics. Mom has gotten sick too which had put additional burdens on dad.

Update:  The whole family got sick. Thankfully antibiotics and some rest has been the perfect cure.  Our pediatrician's philosophy of attacking colds early has proven time and time again to be the right treatment plan for William.

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.

William is getting stronger

Our physical therapist believes she is seeing an increase in strength. Great news.

Taking charge of medical care!

This week we were reminded that Williams's care and well being is not really the primary interest of all physicians. Our pediatric neurologist reccomended that mom get a genetic sequencing test. The amount of red tape that we had to cut through was unbelievable. First, the multiple physicians did not communicate and therefore no one could figure out how to get a blood sample to the proper facility. Next, two physicians failed to read the medical records properly. Their failure caused much undue delay and upset my wife. The end result was that I was forced to be very aggressive and demanding to get the tests. It's unfortunate that results were only obtained after I yelled. I wish yelling was not necessary to get people to do the jobs they are tasked with.

William loves sports.

One of the more interesting aspects of raising William is the different types of activities he enjoys. William has become somewhat of a TV junkie. He loves watching television. In particular, he loves watching sports. Last night he had become upset when our family attempted to watch the show Modern Family. His mood quickly changed and he was once again happy and playful once sports were put back onto the television. Hopefully the Chicago Bulls, Chicago Blackhawks, and Fighting Illini have good seasons as we will likely be watching more of their games than previously anticipated.

Managing Care

One of the more difficult tasks is managing the numerous physicians involved with William's care. The most recent example is genetic testing of family members. The coordination of the ordering physician, the lab taking the blood sample, the facility conducting the test and the referral has been rough. The frustration stemming from unreturned phone calls and improper medical orders is unfortunate.

Why we are writing about our journey

I am here to write about my family's journey because I felt this might be helpful for others in our situation.   So for starters, here is some background.  My wife and I were blessed with a loving daughter and decided to have a second child.  Our son was born one month early with significant breathing and muscle problems.  After several months of tests we finally received a diagnosis of myotubular myopathy.  The following posts will contain our journey.  Some posts will be about our family.  Some posts will be about the medical condition and what new families on this journey can expect.  Enjoy.

Here are the early pictures from the NICU.