Marc Has PTLS & CMT:
Marc was my fourth pregnancy, I knew there something was different with this pregnancy I did not feel well the whole time and was not able to put on much weight . I was very scared and anxious that something was wrong. When I went for my first ultrasound they told me I was going to have twins and everything was normal, except for Marc's size and my amniotic fluid was low. The other baby's size was in the normal range.The Doctors sent me to the high risk clinic because I also had been exposed to Fifths Disease, I was told that this could cause the fluid to be off when you have been exposed to it in early pregnancy. At almost three months I started having heavy bleeding and when I went to the hospital they told me I was miscarrying the twins. They sent me home and told me to come back in a week for a DNC to just clean everything up. When I went back to the high risk clinic with a broken heart to have the DNC done they did a ultra sound first and to everyone surprise one baby was still in alive. It was Marc, the smaller baby of the twins. After all the crazy events the doctors had me come in every two weeks for ultra sounds to watch Marc. Everything always looked good except he was always small and my fluid stayed on the lower end .
I was scheduled to be induced on the morning of Nov 19, 1998. I was very sick with a bad respiratory infection, and I did not have a good feeling about being sick and having the doctors induce me but the doctors still wanted to move forward. I was in labor for ten hours and I spiked a fever of 104. When that happened the doctors wanted to get Marc out fast and they had me start pushing, after two hours of pushing Marc was finally born. He was not breathing and he was so tiny. The nurses and doctors were working on him when I took a bad turn. I had lost consciousness and my heart rate was irregular. My husband had to choose between going with Marc to the NICU or staying with me while they worked on me. He was so scared, luckily we had family there. When things finally calmed down and I was doing better and Marc was now breathing on his own. After they brought him to me, I noticed that something was very different with him compared to my other three kids. He had very low muscle tone and a very weak suck. He hardly every cried at all in the hospital and had to be woken up and kept awake to eat, it would take two hours to get 2 ounces. The doctors told us not to worry that he had a hard delivery. They had to put him in the warmer at the hospital because he had a hard time regulating his temperature. He was 3 pounds, 12 ounces, the smallest of my babies.
After we went home Marc still never cried, he slept all the time and had to be woken up to be fed. He was back and fourth at the ER for months with dehydration and body temperature issues. He wasn't gaining much weight and at 2 months he weighed only 4 pounds. The doctors said he had failure to thrive. Marc was very sick for the first year, it was a long road. Only to learn it was going to get harder it took us until five years old to get a diagnosis of PTLS and CMT. We had been in and out of the hospital for the past five years. At a year old he only weighed 9 1/2 pounds, and at five years he only weighed 29 lbs and still was not eating well at all.
Marc Is now 11 1/2 years old he has had heart issues from birth starting with the Increased heart rate and other heart problem. He has had to have four open heart surgeries, he is 100% depended on a pacemaker now do to damage to his heart from his last surgery. He will need more heart surgeries in the future. He has had to have two spine surgeries and will also need more of them. Marc has Sleep Apnea and trouble with falling asleep he has a c-pap but he will not wear it at night and we give him melatonin at bed time.
Marc has Hyperactivity, OCD , Anxiety and has Separation anxiety . He is on the Autism Spectrum Disorder, has a lot of Repetitive Behavior and he is Developmental Delay. He is functioning at a 3 to 6 year old depending on the task. Marc has on going Feeding problems. He had difficulty suckling as a baby , he still has some mild issues with swallowing and can choke easily. He can not eat any soft foods and the foods he will eat are very limited, he goes 2 to 3 days at a time with out eating . He has had to battle with failure to thrive on and off since birth. Marc has Verbal Apraxia, speech delay, he can only say a few words but has managed to get his needs and wants across to us. He does know a little sign language also. He has had low muscle tone since infancy, and he has been getting a little worse of the last few years. His joints have been coming out of place and he does have the CMT 1 A pmp22. He has had a lot of muscle wasting in the last 2 years from the CMT also.
Marc has had seizures in the past and is on medication for them but he has been doing better with that over the last year. He does have poor vision but wears glasses. For school Marc is home-bound so his teacher comes to the home two times a week and his therapies also are done in the home because Marc gets sick very easy and does not recover very easily.
He loves to watch movies, look at books, and play on his swings. Marc is a very loving boy, he has never been aggressive to anyone. He is potty trained for number 1, he does not go on the potty for number 2. He still wants to go in a diaper but we are trying to work on that. I think it is a sensory issues, he also does not like change so I think that is an issue also. My husband and I have been all over the United States to many different hospitals to get help for Marc where each doctor has been able to help us piece things together to help give him the best medical care we can. The journey has been long and hard, also financially hard on the whole family. I feel at times that my other kids have lost out on something as they grew up. But We have learned as a family to take each day at a time and that we are blessed to have Marc in our lives. We have learned that each day always hold a new surprise. Marc is our angel sent from God with a broken wing. I Got this from a beautiful poem. Here is a copy for everyone to read, I read it when the road seems to hard to remind me that I have a special angel that God has trusted in me to take special care of.
God Sent to Me an Angel
By Paul Dammon 11/96
God sent to me an angel,
it had a broken wing.
I bent my head and wondered
"How could God do such a thing?"
When I asked the Father
why He sent this child to me,
the answer was forthcoming,
He said "Listen and you'll see."
"My children are all precious,
and none is like the rest.
Each one to me is special,
and the least is as the best.
I send each one from Heaven
and I place it in the care
of those who know my mercy,
those with love to spare.
Sometimes I take them back again.
Sometimes I let them stay.
No matter what may happen
I am never far away.
So if you find an angel
and you don't know what to do,
remember, I am with you,
love is all I ask of you."
