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Sam's Story.

If you had asked four years ago what our reaction would be to having a child who could not walk, talk, eat or hear at the age of three, we would have said it would be a nightmare. Life often doesn't go as planned--our three-year-old boy, Sam, faces all those hurdles.

Ruth's pregnancy, her first, was normal. Our business specializes in books for the body, mind and spirit, so she lives a healthy lifestyle. Sam weighed over seven pounds at birth and his Apgar scores were 8 and 9.

Two months after his birth, Sam's weight gain slowed down. He was often crampy after eating but we didn't think anything of it and neither did our pediatrician. When Sam was five-and-a-half-months old, the nurse practitioner at our pediatrician's office commented on his "floppiness." Sam hadn't reached normal developmental milestones, such as head control and sitting up. His weight had been stuck under 11 pounds for almost three months.

A month later, we took Sam back to the pediatrician with a fever. He was alarmed at how Sam was arching his back and crying. He took a closer look at Sam's floppiness and noticed his bifid uvula (a cleft in the soft hanging structure at the back of the throat) and small head. He referred us to the University of Michigan's Emergency Room to have Sam evaluated. We had gone to the doctor's office thinking we had a healthy baby with a virus. We left his office trying to absorb a new reality--our child might have serious medical problems.

The next three months were very difficult. Sam was seen by pediatric neurologists, endocrinologists, metabolic geneticists, gastroenterologists and a dysmorphologist. He received batteries of tests--blood tests, urine, organic acids screens, MRIs and muscle and skin biopsies. His blood carnitine level was low and he was immediately put on Carnitor[R]. Many disorders and syndromes were eliminated as the focus turned to something called short-chain acyl CoA dehydrogenase deficiency, a fatty acid oxidation disorder within the larger category of mitochondrial disorders.

Meanwhile, Sam was not growing or making any physical or cognitive progress. When we asked whether we could still hope that Sam might live a normal life, we were told Sam "was at great risk for that not being the case."

We struggled to comprehend the clinical and biochemical language thrown our waY We honed our skills in dealing with "experts," questioning doctors and therapists until we were sure we understood what they were telling us.

We quickly learned that we were responsible for getting necessary information rather than relying on them to give it to us. We, too, needed to become the experts on Sam! A persistent yet non-confrontational approach helped create a sense of partnership and mutual respect between us and the physicians.

We waited for a full year while Sam's tissue was studied by specialists before learning that they had been "unable to pin down a precise defect in fatty acid oxidation." Sam's rate of oxidation in short-chain and long-chain fatty acids is mildly impaired, but his profiles are non-diagnostic. Future studies can be pursued but for now we are at an impasse. We have accepted that Sam has a presumed but as yet unknown mitochondrial disorder underlying his "clinical syndrome."

We began giving Sam PediaSure[R] when he was about seven months old. It is highly concentrated in nutrients and calories. Finally, he began to gain weight. Many children with inborn errors of metabolism have poor appetites and g-tubes are commonplace for them. We resisted a g-tube and struggled for months with bottle feedings of PediaSure[R]. Sam rejected all but the smallest amounts of regular food by mouth.

From the age of six months, Sam attended our school district's early intervention program. The therapists have been wonderful They enjoy Sam for who he is and what he can do. They treat him as the whole person that he is. It was the speech therapist there who first suggested Sam might have a hearing loss. Tests done when Sam was one year old revealed that he was moderate to severely hearing impaired. By this point, we could accept this news with a degree of equanimity. Sam was immediately fitted for hearing aids. He seemed to do well with them, becoming more responsive to the world.

At two years of age, Sam was only 15 pounds and had required hospitalization three or four times during typical childhood illnesses. He would not take his bottle and became easily dehydrated. We decided we had to try the g-tube.

It was a great success at first. We could see now that this little boy had been hungry for much of his life. He became less floppy and more expressive. Sam gained four pounds in a few months. He was happier, laughing regularly for the first time in his life and he became physically stronger. He began to support himself in a crawling position (although he could not get into the position by himself). He started bearing weight on his legs and "walking" with our support.

Unfortunately, Sam still gets stomach cramps easily and suffers from mild reflux. He can't tolerate the medications (Zantac[R] and Propulsid[R]) that were prescribed to relieve the cramping. We introduced pureed vegetables and natural baby foods into the g-tube along with the PediaSure[R] and he tolerates them well. Sam still weighs only 21 pounds however, gaining only one pound in seven months.

By the time Sam was two and a half, he was profoundly deaf. We had been cautioned by a pediatric otolaryngologist that hearing loss is sometimes progressive in children with underlying mitochondrial defects. Now we all work with a tutor and have learned a few hundred words in sign language. Sam pays strict attention to our signing, and we think that sign language will be the key to communicating with him even though he does not point, or nod yes, or communicate with us in a consistent way yet. He watches everything carefully and seems to be learning the signs. We hope over time this effort will bear fruit.

Sam can now sit confidently on the floor by himself and play with toys. He loves to look at books, watch Sesame Street and bounce happily in his exersaucer. He also enjoys swinging and being tickled. In many ways, Sam is more like a 10-month-old than a three-year-old. We just love him.

We have chosen to live with a sense of deep gratitude and acceptance which is not to be mistaken for passivity. We strive for Sam's childhood to be full of love, fun and relationships with family and friends. He has the rest of his life for therapy, school and treatments.

We look for support everywhere. For instance, we found a pediatrician who thrives on these special situations. Once you start to look, support can be everywhere: this magazine and its vast resources, early intervention programs, specialists and therapists, families and friends, child care providers, the Internet, NORD, conferences and newsletters, parent groups, other families with children with special needs, counseling, a hot bath, a little bit of time for ourselves.

We have no idea what the future holds for Sam. Having a child like Sam is an exceptional experience. In the movie, Marvin's Room, Diane Keaton tells her sister, "I have had so much love in my life." She has spent much of the last 20 years caring for her sickly father and not-too-well aunt, while her sister has kept as far from the caretaking as possible. The sister, thinking she understands, says to Keaton,"Yes, they really love you so much." "No, no," responds Keaton,"you don't understand. I have been so lucky to have them in my life. I have been so lucky to have been able to love them so much." Raising Sam can be hard, but we're deeply grateful for his presence in our lives.

RELATED ARTICLE: SYMPTOMS OF CARNITINE DEFICIENCY

Very poor muscle tone and coordination Chronic vomiting Runs a chronic fever Vomits after exercise Severe feeding problems Little weight gain, and/or weight loss Lethargy and unusual weakness Recurring, stubborn infections Flu-like symptoms Increased seizures
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Title Annotation:Mitochondrial/Metabolic Disorders, part 1; Mitochondrial Diseases
Author:Zirinsky, Bill
Publication:The Exceptional Parent
Date:Jun 1, 1997
Words:1359
Previous Article:The spectrum of mitochondrial disease.
Next Article:Carnitine deficiency.
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