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Thank you for visiting my page! I am excited to share about my journey with Rett Syndrome. 

 

Amanda Nicole Coats ~


After what seemed to be a normal pregnancy and delivery, 
Things changed rapidly right around Amanda's first birthday though when Amanda became extremely ill. She developed what's known as Rotavirus, which is an infection of the intestinal tract that causes severe acute gastroenteritis and diarrhea among infants and children world wide. Life for Amanda was miserable, she was constantly vomiting and running a high fever. And then to make matters worse she developed pneumonia approximately 3 months after being diagnosed with Rotavirus. I spent countless hours at her bedside during this time trying to comfort her as she screamed for what seemed an eternity. I knew she was hurting but she couldn't tell me what was wrong. I would pace the floors with her, rock her in the rocking chair, or play with her, in a desperate attempt to soothe and comfort her, but my efforts didn'twork. She suffered so that she rarely slept, and then only because of sheer exhaustion. Life for Amanda was no longer that of the happy healthy baby we had enjoyed during her first year of life. Somehow things managed to get worse, it seemed like she was sick every time you turned around. We seemed to be in a doctors office at least every other week. Her physicians were perplexed by her condition, and could not seem to discover what was wrong with her. They began giving her prescriptions for one medication after another in an effort to alleviate her symptoms, but nothing seemed to work.
It was around this time that I began to notice that Amanda wasn't progressing along like other children her age. She had said several words and had tried to take a few steps in the past, but after her hospitalization she just seemed to quit. Amanda seemed to have no energy at all, and cried as if in severe pain whenever she tried to do something, then she began having severe mood swings that seemed to occur out of the blue! By the age of 15 months or so I became concerned by her progress as she was not trying to crawl or walk, and she had instead opted to use her bottom to scoot across the floor, which was her primary mode of travel. Once again we went through a procession of different doctors trying to figure out what was wrong and why she wasn't developing the way she was supposed to be. In May of '98 one of her doctor's told me not to be concerned, that every child learns at a different pace, and she was just a little slower, and assured me I had nothing to worry about. His opinion did not alleviate my fears or suspicions, so we sought a second opinion.
Well , the next doctor informed us that upon examining Amanda's head circumference, and size he had found that it fell below what was considered to be a normal average for her age, and suggested that Amanda showed signs of which is a term used to describe Begin Congenital Hypotonia decreased or low muscle tone in an infant. Hypotonia can be caused by a multitude of health related problems ranging from Down syndrome to Rickets, and could even be a reaction to a vaccine. It was at that time that Amanda was diagnosed with which is another medical label, which describes a condition of low muscle tone or weak muscles. Doctors often use this term to describe this condition, but it is only a symptom of many possible specific disorders. So we were referred to yet another doctor where a new series of tests began. I never realized how many tests they were intending for my baby girl! The first doctor did a MRI and several x-rays of her skull, but could come to no conclusion, so he suggested we see a genetic neurologist who ran another series of tests. But all of these results came back normal as well. No one could explain to me what was wrong with my daughter, and all the while her condition was worsening because she wasn't eating properly, and she was vomiting on a regular basis which was causing her to lose weight.
We were then referred to a neurologist who ran another set of tests, and said he too could find no abnormal test results but he felt that she may have which is a term for a group of inherited neuromuscular diseases that affect specialized nerve cells called motor neurons which control the movement of voluntary muscles preventing the delivery of electrical and chemical signals that muscles depend on for normal function. S.M.A. is a form of MD, which can be any of several inherited diseases characterized by the progressive wasting away of the skeletal muscles.
By April of '99 Amanda began developing a breathing problem in which she began hyperventilating that made it even harder for Amanda to eat or drink, and she was always tired and irritable. I knew something was very wrong with her and I had to find out what was wrong no matter what.
Amanda's neurologist called in a pulmonologist who upon examining Amanda immediately checked her into a hospital in Amarillo. We mistakenly thought it may be just a 24-hour observation to run more tests, but it turned out to be a very, very long stay. The first day they ran 2 more MRI's and a nerve test, as well as blood work that was done continuously throughout the first day. The next day the pulmonologist decided to put her in what we lovingly refer to as her Blueberry suit, which is commonly called an Negative Pressure Ventilator. An external negative pressure ventilator (eg., iron lung, cuirass) is a device chamber that is intended to support a patient's ventilation by alternately applying and releasing external negative pressure over the diaphragm and upper trunk of the patient. I was horrified by the prospect of using such a device on my baby, but was willing to do anything if it would help so we began the first session in her new Blueberry.
The results were immediate, as well as dramatic! Her first night in the suit she actually relaxed and seemed to get a very good night's sleep, the first in a very long time. Her pulmonologist was pleased by the results, and scheduled her to receive 12 hours of treatment in her Blueberry suit each day. Meanwhile her neurologist was seeking to find out whether or not Amanda had M.D. his first step was a surgery to take a muscle biopsy from her leg which he tested for S.M.A. or any other form of M.D. as well as Multiple Sclerosis. After her surgery Amanda was closely monitored in an Intensive Care Unit for several days. When the test results came back we were once again informed that they were all negative. After ruling out M.D. and M.S. as the possible culprits her neurologist along with his co-workers set out to research and discover the possible cause of Amanda's ailments once again.
Then in September of '99 we were called in for a consultation with Amanda's team of doctors, who said that they felt they had finally come to a conclusion as to what Amanda's problem was. They now felt that Amanda had a rare inherited neuro. Metabolic disorder which is call Leigh Disease, which characterized by the degeneration of the central nervous system. Being a rapidly progressive disorder it usually begins between the ages of 3 months and 2 years, and in most children the first noticeable signs may be poor sucking ability, loss of head control, and loss of previously acquired motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and/or seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis. The Lactic acidosis may then in turn lead to the impairment of respiratory and kidney functions. Resulting heart problems may also occur depending on the severity of the individual case, so the doctors seemed confident that Amanda's condition was fatal.
They tried to prepare me for the worst, insisting that Amanda had only 3 months left with us at best, and that was if we were lucky. Having never heard of Leigh's Disease myself I began doing research of my own in an effort to save my baby. The more I learned the more I was convinced that Amanda did not have Leigh's disease, so I continued searching for answers using only her symptoms as clues to go by. It was during this time that I came across an article about Rett Syndrome that caught my attention, and after reading up on it I decided to ask her doctors if this could perhaps be what was affecting her. Her doctors insisted that she did not have Rett Syndrome, and stuck to their original diagnosis of Leigh Disease refusing to look into Rett's Syndrome at all.

I wasn't convinced and decided to seek out yet another doctor for Amanda. So we went to Houston and saw Dr. Daniel Glaze. I told him I needed answers to all my questions, and explained our situation. Dr. Glaze then looked over Amanda's records, after which he ran some of his own tests, and some more blood work. He then told me he'd let me know the results as soon as he could. We anxiously awaited the results, and were astonished when they came in and her new Doctor gave us the results. His tests had proved conclusively that Amanda did indeed have Rett's Syndrome!
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Since then things have been a little easier, if nothing else we have the peace of mind of knowing without a doubt what my daughter has. And she now has someone who is treating her properly according to her needs.
Amanda was enrolled as one of 30 girls participating in a double-blind placebo-controlled treatment study that is testing new medications that may be used for the treatment of Rett's Syndrome. This Study is being conducted by the Baylor College of Medicine in April of 2000. To date she has been participating in this study for about nine months and we have noticed some improvements. Most of all Amanda is more vocal and observant now than ever.
I consider Amanda to be one of the best things that has ever happened to me. She is my best friend and my very precious, special gift from God. Amanda's needs are my special needs. She teaches me daily about life, and not to take one precious moment of it for granted. We now treat every day as if it were our last, and thank God every day for our precious daughter Amanda.

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