Living with MPS disorder: Mitch's story. (Family * Friends * Community).
When Mitch was born he Was such a joy. We were the "perfect" family: a beautiful wife, a daughter, a loving father, and flow a son. Even though he was always a little sick with bronchitis and colds, I thought everything was normal. He was healthy, strong and always had a great appetite. I remember that during his first year it was very hard to wean him from breast-feeding.
Mitch started to walk when he was a little over a year old; this too seemed normal. I loved to watch him move around. He was very active and curious. By his third year, Mitch had developed quite a personality; he was very demanding and had become quite a little bully.
When Mitch was three, he did not talk as well as we thought he should have, so we became concerned about his development. We compared him to a cousin who was six weeks younger than he and to our daughters development at that age. We expressed our concern to his pediatrician, who referred us to a local school for tests: developmental, physical and hearing We were told that he was developmentally delayed and that they could not role out mental retardation.
A few months later, we took Mitch to the pediatrician for an exam and the doctor noticed that his liver was enlarged. He referred us to the genetics clinic at a major regional hospital. There they measured his head, hand, legs, liver and spleen, and did a biopsy of his hand. I had no idea what this could possibly mean, but I knew something was wrong by the way the doctors were whispering to each other. I felt sick. What could possibly be wrong with my son? I prayed that everything would be okay. I held him tight and reassured him. A week later, Cheryl and I received a phone call from the doctors saying that Mitch was diagnosed with Hunter syndrome (severe), MPS II. We were told that it was terminal and that he would not reach his teenage years. This was devastating news. I was very upset watching my wife cry and told myself I would be strong for her. Many nights I would cry, thinking about what I could do for my son. I didn't care what the doctors said; we would give Mitch the best life we possibly could. Shortly thereafter, I watched Cheryl turn into the strongest person I have ever known. She was there for Mitch 24 hours a day, 7 days a week, and 365 days a year. She took care of all of his needs and held down a full-time job. I do not know how she did it.
Mitch started going to Rolling Road School, a special school in our area. He loved riding the school bus, and I think it was the highlight of his morning. He carried his own bag and was quite proud of it. Mitch loved and respected all his teachers; it was amazing how much they could get him to do that we couldn't. He was a stubborn little fellow most of the time.
Because he loved school, he progressed significantly, learning to communicate rather well. He always talked in short sentences and phrases. I admired his vocabulary: just the basics. He knew and said people's names, he knew food very well and he communicated his needs. This was a blessing to us.
When Mitch learned something, he would drive you crazy with it. For instance, when he learned that the stove was hot, he would ask me 100 times a day, "Daddy! Daddy! Stove hot?" I would say, "Yes, Mitch." He loved pots and pans; he would pull all the pans out of the cupboards and pretend he was cooking. My wife didn't like this, but every chance I had, I'd let him do it. This made him so content.
Mitch became very hyperactive from ages five through eight. These were trying and challenging years. For example, he loved to make noise by turning the TV to maximum volume or banging the silverware drawer. He also enjoyed going outside; he would just start laughing and become ecstatic. He loved to laugh. One of the hardest things we tried to do was potty train him. Later, we found that it was not worth the trouble. At times, we almost had him there but he would often regress.
Mitch started losing some skills when he was about 8, including his speech. We later realized that this was the disease taking over. Hunter syndrome is very hard to accept because it gradually robs Mitch of all his basic life functions. As I watched my son deteriorate between the ages of 10 and 13, it just tore my guts out. When Mitch was 12, I thought that we were going to lose him. He was totally out of it, all the time. He couldn't eat or hold his head up.
We took him for G-tube surgery. Although this was a tough decision to make, it was a wise one. He needed it because he aspirated everything he ate or drank. He seemed to do a little better after the surgery, but he still seemed to be out of it. Our doctor told us that tests indicated that Mitch had hyrdrocephalus, and he recommended that Mitch have a VP shunt to relieve the pressure. The surgery was successful. Before it, Mitch had not smiled or held his head up for months. Afterwards, as I walked into the recovery room, I noticed that Mitch had a big smile on his face. This experience has taught me never to give up hope and to always have faith.
Today, Mitch is almost 15-years-old and he is doing well. Though he cannot walk, stand, talk, roll over in bed, eat by mouth or support himself sitting up, he can look at you and tell you exactly what he wants with his eyes. He can still watch TV. He groans when he wants to be turned over. His smile can melt a thousand hearts. He's the love of our life. He keeps our perfect family as one. He's the bond among all of us, teaching us how to love, laugh, hope, pray, and to give unconditionally. Without Mitch, I don't think I would ever have learned the true meaning of love.
Mom's Perspective by Cheryl Moore
My husband Mitchell and I have been blessed with two children, Michelle Lynette, 21 and Mitchell Warren II (Mitch), 14. At birth Mitch did not show any signs of having Hunter syndrome. He crawled and walked at a normal age. However, after a few months, he began to have respiratory problems: he was hospitalized with brochitis at both five and six months of age. He had frequent colds that would last for several weeks at a time. We later learned that respiratory problems are one of the early symptoms of Hunter syndrome.
At the time of Mitch's birth, Michelle was 6 years old. She and MAtch have always had a close relationship. As the years have gone by, Michelle has substituted many times as a second mother, always looking out for his best interests.
When MAtch was 3 and a half, his pediatrician noticed that he had an enlarged liver and spleen and referred us to Johns Hopkins Hospital, Baltimore, MD, for testing. The diagnosis was a severe form of Hunter Syndrome (MPS II), a rare genetic disorder in which an enzyme essential to breaking down mucopolysaccharides is missing. Its absence causes progressive damage because the incompletely broken-down mucopolysaccharide remains stored in the cells. Hunter syndrome affects only males, though female siblings may be carriers. The news of Mitch's illness and prognosis was devastating to us. We had never heard of MPS disorders.
Mitch's speech developed slowly; he spoke only a few words until he was 4, when he started to speak in phrases and short sentences. Mitch could name anything he wanted to eat or drink. For example, he would say "Juice, soda, hot dog, pizza, and hot meat." It was easy for us to encourage him to say specifically what he wanted because of his love for food. By the time he was six he could count to 10 and name most colors. Mitch would call all family members by name, including grandparents, aunts, uncles, and cousins.
Mitch loved to sing, too; his favorite song was "All Day, All Night, Angels Watching Over Me." It lifted my spirits to hear him sing. I always felt that there was something spiritual about Mitch. He loved to go to church on Sunday with us. To my surprise--and the amusement of the congregation--Mitch would say "Amen" during the sermon. His speech progressed until he was seven or eight, when words began to disappear from his vocabulary. This was a gradual process. Initially, he stopped saying everyone's names except for Mommy, Daddy, and his sister, Chelle. As time went by, though, he eventually stopped calling us by name as well.
As a child, Mitch was hyperactive; he loved to run, jump, and make a lot of noise. His hyperactivity really kept us on our toes; now that he has slowed down, though, we really miss that time of his life. It is more stressful now that he is not able to do the things he used to be able to do.
When he was 10, Mitch's motor skills gradually started to decline. Within a year, he stopped walking independently. Now he must use his wheelchair full-time.
Mitch also began to have problems swallowing. He was aspirating all the time and he was hospitalized many times with pneumonia. In November 1998 he had a G-tube inserted. It was difficult at first for us to accept the idea of a G-tube because Mitch loved to eat. Looking back, it was the best decision we could have made; he has fewer respiratory illnesses and he has not been hospitalized since May 1999.
The last three years have been very hard. Mitch began having frequent seizures in 1998. He was sleeping all the time, had stopped smiling and seemed to be in pain. We discussed the symptoms with his neurologist; she arranged for a head CT scan and an MRI, but these tests did not offer enough information for a clear-cut diagnosis. Mitch then had a spinal tap and was diagnosed with hydrocephalus, caused by increased accumulation of cerebrospinal fluid within the brain. To drain the fluid and relieve the pressure, he had a VP shunt placed, and a revision was made several months later. Since the surgery, MAtch has been doing very well. His seizures are under control and he has a much better quality of life.
I worked full-time as long as I could. Still, it became more difficult to work as Mitch was in the hospital so often. I spent nights at the hospital and full days on my job, and kept this pattern up for his entire stay. I often look back and wonder how I did this. Leaving work was a difficult decision to make because it meant going from two incomes to one, but I thank God that I did it in September 1999. That fall we had to take MAtch out of school He was not sleeping well at night and became restless and sleepy during the day. At present he receives tutoring and physical therapy at home.
It was a struggle for us to acquire professional help for Mitch; in May of this year, we finally started to receive home nursing care. This has been a blessing and he is adapting very well. It came at a time when I was on the brink of physical and mental exhaustion; caring for Mitch 24 hours a day was taking a toll on me. Home nursing has helped me to get some rest and have some quality time for myself.
As a family, we have had many ups and downs, and it has been hard to do things that other people take for granted. Mitch is our first priority in any decision that we make. We don't travel anymore because his health is too fragile. We take one day at a time and we put our faith in God.
Mitch is such a sweet child and we love him very much. He is a gift from God, as all children are, and we are so thankful for him.
Sister's Thoughts by Michelle Moore
Having a sibling with a genetic disorder can have a profound effect on someone, it has taught me not to take life for granted. Most of us don't realize how very fortunate we are. I have deep compassion for people who have ailments that restrict their lives, especially those who do not have a strong, supportive and caring family as Mitch does. He has been blessed, and gets as much love and attention possible. Even though I wish that he did not have Hunter syndrome, I am glad he is with us. MAtch is the greatest gift my family could ever ask for.
I remember, as a young child, always wanting a little brother. When I learned that my mother was pregnant, I told her that I wanted a brother, not a sister, and that's what I got. On November 17, 1986 MAtch was born, the cutest baby I had ever seen. I remember sneaking into his room all the time to play with him and talk to him. As Mitch began to grow up, everything seemed normal; he walked and talked. We would do everything together: fight, play, sing, you name it. I even taught him how to count. I just knew that we would always be close.
Then one day, I noticed that my parents were sad. I heard my mother crying, and she and my father talked all day. I had no idea what was wrong, but I knew that it was serious. I just listened, and wondered what could be the problem. Not too long after that, I found a letter from the genetics clinic. It said that Mitch had Hunter syndrome, and that it was terminal. I did not see any problems with him! I was so upset, I cried and cried. I tried to look up Hunter syndrome on my own, but I could not find any information. Later, I learned that this is a rare condition (affecting 1 in 100,000-150,000 male births). Eventually my parents did tell me about MAtch's condition and I even went to some of his genetic appointments.
As the years went by, things seemed to be going well with MAtch. He was a little slow for his age, but he was still getting around He loved to sing, play, eat and bang things. He loved noise, or maybe he just loved to drive us crazy. If he could get something in his hands, anything, he would bang it. When we would try to make him stop, he would laugh at us and run away. He also loved going to school, where he was very popular, even with the older kids.
Gradually, he began to say fewer words and he wasn't able to get around as easily. I know that the skills disintegrated little by little, but it seemed more like one day they were there and the next day they weren't. These things that we take for granted were given to a little boy and then taken away. A scary event was the first time he had a seizure; I did not know what was wrong or why it was happening. He must have had four or five more seizures that day.
Mitch began having difficulty eating and drinking, causing him to aspirate. This became very troublesome. We started cutting up and mashing his food, and then gave him baby food. Even this was tough for him to swallow, and eventually he had to get a G-tube. After the surgery, he seemed much healthier.
Then a time came when he seemed so out of it. He never smiled anymore and and he was constantly tired. We found out that he had hydrocephalus, and he had a second surgery. We could definitely tell the difference. Soon after the surgery, Mitch was smiling and laughing. It was something we hadn't seen in a while.
Another great moment in MAtch's life was when our mother stopped working. Her decision was definitely helpful. For a time, Mitch was frequently sick. Since she has been home with him, he has been in better health. He can't do anything for himself now, but you can see that he is happy. He gets home schooling, physical therapy and, just recently, home nursing.
It feels good to see him doing well, because he has been through a lot in his life. Coping with this reality has been tough at times, but overall I accept it and am thankful that he was sent to my family. Whenever times get hard, I just say Reinhold Niebuhr's "Serenity Prayer." It gives me comfort and strength.
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|Title Annotation:||Hunter syndrome|
|Publication:||The Exceptional Parent|
|Date:||Dec 1, 2001|
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