Our story is a long one because it spans 65 years and 3 generations my mom, myself (44 year old women) and my two teenage sons. Our journey continues till this day. To look at us you might not know that we have a form of Muscular Dystrophy. If you saw us run or jump you would suspect a problem. In a conversation you might notice that our voices change pitch. The diagnosis that we were given in 1990 was vocal cord paralysis with an underlying myopathy. I knew we all had muscles weakness but never actually researched myopathy. All my Doctor told me was to have the boys see a neurologist when they get older. That before they had children we should look into the muscle problem. Believe it or not, we are just getting muscles biopsies in this new year 2006. I am now 99% sure that the 4 of us MTM.

If you are a new parent or family member of a child with MTM, I think our story will give you some hope. The best advice that we could give you and why we think our two sons have done so well living with MTM:

1. Transferring them from your local hospital to the nearest children's hospital immediately.

2. Trach and g-tube placement immediately.

3. Early Intervention Programs before age 5 and an I.E.P.'s when they reach school age.

4. Having emotional and physical support from our family and friends kept us sane and we could always use an extra pair of hands.

I believe my children are the third generation to have MTM. My mother was born in 1940 she had breathing problems and muscles weakness that went untreated / undiagnosed. At 15 she had a spinal fusion due to a severe case of scoliosis . When she was pregnant with me in 1961 her Doctor, family and friends could not believe the size of her stomach. In all probability, she had polydramnions (extra amniotic fluid).

I was born in 1961 via a c-section. I was a few days old and not yet released from the hospital when I developed breathing problems. Doctors never found a cause but did perform a tracheostomy. I had muscle weakness. I was very floppy. I was de-canulated at 9 months of age. After the trach was removed I continued to have difficulty breathing, swallowing and sucking, which caused insufficient weight gain and had the croup often.

During my first pregnancy in 1990, I developed polyhydramnions. My OBGYN ordered an ultra sound to check the baby's kidney's. His kidney's were fine. He told me we probably will never know why I had the extra fluid. I was 10 days late when my Doctor induced labor and had to break my water. Meconium was found in the amniotic fluid. Which meant that the baby at some point had been in distress. Then a short time later the baby started to show distress on the fetal monitor (fetal bradycardia). My Doctor decided to do an emergency c-section. Daniel was born and he did not make a sound. He was very floppy, 'frog legs' like a rag doll. He had to be intubated and artificially ventilated. Doctors told us that he had to be transported to our nearest children's hospital. Within 24 hours he was taken to St. Christopher's Hospital for Children in Philadelphia by ambulance.

Dr. John Tucker, ENT scoped him in the NICU. He told us his vocal cords were paralyzed. Actually, the nerves that make the cords open and close were under developed. This meant that he could not breath or swallow on his on. Daniel was trached when he was 4 days old. In 1990 I was 28 years old. With Daniel's diagnosis came my diagnosis, so we thought. Also came the diagnosis for the extra fluid (polyhydramnions) during my pregnancy. He was not swallowing the amniotic fluid.

Daniel was refluxing and unable to suck or swallow so at 3 weeks old a Nissen Fondulplication was preformed because they were worried about aspiration. A gastrostomy tube was inserted for bolus feedings. He was in the hospital for 29 days. Even at 29 days he had no head control. His muscle tone was very poor. His gross motor was diagnosis to be Hypotonia, and his hands were very tight (Hypotonia). His fingers have sever contractors. Fortunately, his hands are functional. He has Tarsal Coalition in both feet (fused ankles / no R.O.M.). His right ear is deformed, it looks closed but his hearing is normal. I used a passy muir which is a filter that attaches to the trach. When he wore it he was able to handle his oral secretions on his own. For us this meant less suctioning with the machine. We did not find that it assisted him in talking or making sounds. He figured out on his own that if he covered his trach with his neck and chin that he could make sounds and say words. He would cover it and say dad-dad-dad.

* Helpful hint: Our ENT Doctor never put the boys on a decongestant for a cold. His opinion was that he did not want to suppress their secretions. It was best for them if we suctioned them often. He worried that if we tried to dry up their secretions there was always the possibility that the sections would sit in their chest. He wanted to keep their secretions loose, up and out. It was hard on us when they got a cold because they had to be sectioned constantly. His opinion proved to be right because they never they had a chest infection.

He was de-canulated at age 4. Till this day he is on night tube feedings. He is unable to gain or maintain weight on his own. A small amount of food fills him up. If he pushes that one extra bite he starts to reflux. The specialist told me that he will have to be tube feed until he is completely finished growing. The reason being, when you stop growing you do not need to consume as many calories as you did when you are growing to maintain your weight.

Fourteen months later I had my second and final child. In my fourth month an ultra sound was preformed. For the second time I had developed polyhydramnions. So for the remaining 5 months of my pregnancy, I knew I was going to have a second son with the same medical problems. I could not breath, eat, shower or function with the extra amniotic fluid. I had to go for an ultra sound every other day to have the fluid measured. Thank God for my family. My sister had to drive me every other day to my ultra sound appointments. My parents had to take care of Daniel and my husband had to go to work. When I reached week 34 of my pregnancy a Doctor that I had not seen before that treats women with high risk pregnancy came in and saw the amount of fluid I was carrying. He informed me that my stomach was the size of a women full term carrying triplets. I had six weeks left to go. I had to be admitted immediately to the University of Pennsylvania Hospital. I had two or three amniocentesis, 1-2 gallons of fluid was removed each time. Removing the fluid gave me some relief.

I was scheduled for a c-section ten days prior to my due date. Steven was born and cried, it was music to our ears. Only 30 minutes went by when he started having difficulty breathing. He was intubated and put on a ventilator. He too was floppy, 'frog legs'. Within 24 hours he was at St. Christopher's Hospital. Doctors wanted to wait and see if he would get stronger to avoid traching him. His case was mild compared to his older brother, so we thought. He did not improve and was trached when he was 10 days old. He was refluxing. A Nissen Fundulplication was preformed and a g-tube inserted when he was 3 weeks old. He was also diagnosed with Hypotonia muscle tone of his gross motor. He was in the hospital for 29 days. The exact number of days as Daniel. I found out from another mom, not our Doctor's, that our medical insurance company might pay for at home nursing care the day I delivered Steven. We never knew that nursing care was even an option. Daniel's Doctors never mentioned it to us. When I asked them why we were never told that we may be able to get home nursing care, they told us they did not mention it because we were doing such a great job of taking care of him on our own. It never occurred to them. I knew that I was taking baby number two home and would now have two trachs and two g-tubes you better believe I looked into it. It started a week after Steven came home. Our insurance company told us if we put them in the same bedroom that the 11 p.m. - 7 a.m. nurse would take care of both of them. So we did just that. We had two of everything. Cribs, suctions machines and feeding pumps and we were getting some much needed sleep. I would tell Daniel's surgeon that he was not tolerating his bolus feedings. He would turn bright red, scream and cry and pull his legs up. They just told me to make sure the formula was warm and to feed him very slowly. I had been doing that all along. One of the boys nurses said to me, 'this child needs to be on a continuous feed with a feeding pump'. Daniel's bolus feedings changed to continue pump feedings. Steven never had bolus he went right to pump feedings.

Steven's trach and g-tube came out a two years old. He has never had trouble gaining weight. Steven's Orthopedic Doctor told us that his knee caps are not in the right place. They are positioned higher than they should be. He has Osteochodritis Dissecans in both in both of them. He is followed yearly for a mild case of scoliosis. We were first time parents and only knew that Daniel had weak muscles. We did not have the MTM diagnosis. So we never questioned IF he would walk we just questioned WHEN he would walk. For both boys usual milestones such as sitting without support, crawling and walking were delayed. We were so proud of them because they both started walking at 17 months. We thought that was great considering how floppy they were when they were born. Currently the are considered 12-18 months delayed in regard to puberty and growth. They both received PT , OT and speech therapies immediately. In fact the staff at the hospital had everything scheduled and in place before I took them home. They were in B.A.R.C. and attended Ken-Crest pre-school in Warminster, PA. Ken-Crest was a pre-school that mainstreamed special needs children with typical children. We believe they have made such great progress because of all the early intervention programs. We took advantage of every opportunity. If it was going to help them, we signed them up. We kept them away from cigarette smoke and never let anyone sick be around them. Avoided crowds, such as malls and restaurants. I think it helped them tremendously. Neither one was ever hospitalized for chest infections or any other complications.

I remember Daniel's Doctor telling me that we needed to start teaching him sign language. I cried and told her that that would not be necessary that he would talk. Her response was, he probably will but in the meantime he needs a way to communicate so he does not get frustrated. When he was 10 months old his speech therapist started to teach him sign language. Not your typical alphabet signing but words such as, cookie, please, love and his favorite more. His therapist encouraged us to stick with any sign that he made up on his own. Which he did often. He made up a sign for 'Grammy'. By the time he was 2 years old he knew 110 signs. Also his speech therapist introduced baby food to him in her sessions when he was 10 months old.

My mother, myself and my boys have never been able to run, jump or do a sit up. We have to use the handrail when going up steps. If we are sitting down on the floor we cannot get up without using our hands. Minimal physical activity causes up muscle fatigue and muscle pain. We have low physical stamina / endurance.

Jackie Tyre can be contacted at: jgt712@msn.com.