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Spinal Muscular Atrophy

Spinal Muscular Atrophy Poster Child
Madison Reed

Spinal Muscular Atrophy Poster Child
Devon Stants

Introduction

Spinal Muscular Atrophy (SMA) is a hereditary disease characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells found in the spinal cord. It is the second most common childhood neuromuscular disorder and is caused by a deletion or mutation on chromosome 5q. Muscle atrophy and weakness occur in the voluntary muscles that are used for walking, crawling, head and neck control, and swallowing.

SMA is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene and both parents much each pass the SMA gene to the child (receiving one defective gene will not cause SMA). The likelihood of parents passing the gene on to their offspring and having an affected child is 25%, or a 1 in 4 chance. One in 40 people are carriers of SMA and the occurrence rate is estimated to be 1 in every 6,000 to 10,000 live births (with some forms more common than others).

The first substantive descriptions of SMA occurred at the end of the 19th century when Drs. Werdnig and Hoffman characterized the features of autosomal recessive SMA. Later, in 1950, Dr. Brandt reported 112 cases of progressive SMA and noted that an EMG and a muscle biopsy were useful in establishing a diagnosis. Then, in 1965, Drs. Kugelberg and Welander reported several patients with a later onset of SMA and a more prolonged course. Finally, in 1973, Dr. Pearn published a series of papers that were considered the most important documentation of the clinical, epidemiologic, and genetic

 

Features and Characteristics

There are three types of SMA that appear in childhood. The major differences between the types are the age of onset and the severity of the condition.

Type I SMA (also known as Werdnig-Hoffman Disease) is the most severe form of SMA and is characterized by the following:

Type II SMA is the intermediate form of SMA and is characterized by the following:

Type III SMA (also known as Kugelberg-Welander or Juvenile Spinal Muscular Atrophy) is the most mild form of SMA and is characterized by the following:

 

Diagnosis

Genetic testing is available to check for the defective gene found in individuals with SMA. The test, known as the SMN gene test, can detect deletions in 95% of those individuals with SMA. Another test that may be used in conjunction with the genetic blood test is an electromyography (EMG), which measures the electrical activity of the muscles. If, however, the defect is not detected with the genetic test, a muscle biopsy may be necessary to confirm the diagnosis.

 

Treatment

While gene replacement therapy and/or medication will likely one day be available for individuals with SMA, treatment at this time consists of managing the associated symptoms of the disease. In SMA Type I, a physical therapist can work to maintain range of motion and assist with other physical difficulties the child may experience. In addition, the therapist can recommend necessary equipment for positioning the child in order to keep the child comfortable. A respiratory therapist should also be consulted with, so that parents can learn how to do chest physiotherapy (CPT), which assists in clearing the child’s lungs. For children who are aspirating (either their secretions or food), a feeding tube can be used to maintain proper nutrition and protect the child from aspirating his or her meals. For those who are having difficulty breathing, a ventilator may be used.

For children with Type II and III, assistance from a physical therapist will be needed if the child is in need of a stander, orthotics (braces), or a wheelchair. Occupational therapy may be useful to assist with daily living activities including self care, skills used in school (writing, cutting, pasting), and play and leisure activities. (Of course, if the child is more severely affected, treatment methods may be similar to what was described for children with Type I.)

 

What to Expect

The prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. Children with Type I, the most severe form of SMA, experience progressive weakness and encounter many respiratory infections. They typically do not live past 2 years of age.

The prognosis for children with Type II SMA varies greatly. Some individuals will learn to walk and survive into adulthood, while others may encounter similar issues to those with Type I SMA.

The prognosis varies for those with Type III as well, however, it is usually quite good. Most individuals will be able to walk and will be fully functional into adulthood.

Regardless of the type of SMA a child may have, children with SMA all have normal to advanced intelligence and it is important that they receive all available opportunities to develop their intellectual capacities to the fullest extent.

 

Personal Stories

SMA Type I

Devon was our first child, and an eagerly anticipated one! After he was born, we had many comments from nurses, as well as family, on how bright and alert he was. He was an amazingly good baby, he was quiet, he rarely cried, and he was always content.

After about two months, I was reading through the milestones that each baby should achieve by that age, and I noticed that it said he should be able to raise his head while lying on his stomach. So I put him on his stomach on the floor, and he just rubbed his face a little back and forth. I thought to myself, "Maybe he doesn't want to yet," and put it out of my mind. A few weeks later I tried again, with the same results. I got the first bad feeling in the pit of my stomach. I called the pediatrician, who told me not to worry and that he probably was just being lazy. Part of me believed that, but the other part didn't because Devon was not being lazy in any other sense of the word.

I waited another month, when Devon was 3 months old, and he still could not lift his head while on his stomach. Another call to the doctor again brought the results that I was "not to worry." This time the worry would not go away, and in another two weeks, I insisted on an appointment. The doctor walked into the room, tested Devon's reflexes, pulled on his arms and legs and said the words to me I will never forget: "His muscle tone is all wrong. I want to run some tests. You'd best be prepared because he probably has muscular dystrophy or some such neuromuscular disease."

While we were waiting for the results of the blood test for MD, the doctor also wanted to run a CT-scan to check for brain anomalies and cerebral palsy. We got the results back on the same day - no MD and no CP! We were ecstatic and after doing research on other neuromuscular diseases, felt that we could handle anything else it could be. So what if our child was handicapped physically? In this day and age, he would still be able to accomplish anything he wanted to.

The pediatrician wanted us to see a neurologist to determine what this could be. I took Devon in at 4 months of age to see a local neurologist, who took one look at him and played with him for about 30 seconds, then turned to me and said, "I'm sorry to tell you this, but your son probably has Spinal Muscular Atrophy Type I." This is a recessive genetic disorder with each child having the same 25% odds of having the disease. I had researched all the neuromuscular diseases I could find, and vaguely remembered reading about that one. I asked him if it was bad, and he wouldn't meet my eye as he nodded yes and asked if there was someone I wanted him to call. I asked if it was fatal, and after beating around the bush for awhile with me demanding an answer, he said yes. I asked how long, and he said two to three years maximum. I was stunned. I stared at my healthy looking little boy, giggling and playing with his hands and grinning over at me as I heard his death sentence.

From there, a series of tests were ordered to confirm the diagnosis - an EMG, a muscle biopsy, and a blood genetic test. All confirmed the diagnosis. We were told to take our son home and make him comfortable and that there was nothing we could do for him.

We disagreed! Devon has been the most important and precious part of our lives. We refused to show any sadness around him, and treated Devon exactly as if he were healthy. His mind was quite sharp, and he had a very sweet temperament and loved to play games. He was physically stronger than many SMA Type I babies, as he could hold his head up for short periods of time, move his upper and lower arms, and move his legs as well. He maintained these abilities past his first year, when approximately 80% of SMA children are gone by one year. He loved to play games using his trunk muscles - throwing himself to one side or the other and making us catch him, or leaning backwards until he was upside down. He also "talked" a lot, making a lot of sounds and saying "mama." He could move especially well in the bathtub, and loved to splash the water with his feet and hands. He had a lot of abilities; one of the most important was an ability to be patient and sweet and happy even amidst the slow paralysis that was brought about by this disease.

Eventually the disease began to take its toll as he got bigger and heavier. He would not eat as much as he needed to, and right before his first birthday, he underwent surgery to have a G-tube placed in his stomach to help for feedings. Constipation became a daily problem as the muscles in his digestive system were affected. He was still able to move his limbs, but his neck got weaker and his movements less pronounced. He began excessive drooling, from teething about all of his upper teeth at once, and from his secretions that he could no longer handle. We purchased a suctioning machine to help him with that, but every morning his bed sheets would be soaked completely through from all the secretions. We tried various drugs to dry up the secretions, but they were ineffective on him. At night, we began using a positive pressure ventilation device called a Bi-Pap on him to help expand his lungs, give him more oxygen, and give him a better night's rest. He hated it at first, but gradually learned to accept it. We also purchased a pulse oximeter so we could monitor his oxygen levels and heart rate at home. Gradually, he no longer enjoyed sitting up as much because it made it harder for him to breathe with his diaphragm muscles. This meant his lungs were beginning to weaken.

We had him doing home physical, occupational, and speech therapies to improve his various weakening skills. I did water therapy with him at home in a tub. He loved the abilities he had in the water so we were sure to do it every day. I exercised his arms and legs for him, because he loved being moved past where he could move himself. He loved to watch football and would whine if anyone blocked his view.

A month and a week after his first birthday, which many doctors said he would not reach, Devon went into respiratory failure at home. We rushed him to the hospital, where he was intubated and gained strength for several weeks. When he was removed from the ventilator and put on the Bi-Pap, he was not strong enough to continue breathing on his own. After several hours of being rocked and sang to, he passed away peacefully in my arms, with his daddy holding his hand.

I loved everything about Devon. I loved how his lip would pout when he was frustrated; how his eyelids would turn red when he was mad; how as soon as I would walk in the door, his eyes would get huge and his face would brighten with a 1000 watt smile. I loved how he would play games with us, for hours at a time; I loved his patience when he would wake up in the morning and just talk to himself and wait for me to wake up too and come get him. I especially loved his laugh and smile. I have 5 photo albums of pictures of him, and he's smiling or laughing in 85% of them - and sleeping in most of the rest!

For other parents who have a child diagnosed with SMA, I want to let you know not to give up. These children are bright, intelligent, beautiful people, and as time goes by, there are more treatments available to help with both quality and quantity of life. - Laura Stants

On February 4, 1997, we were blessed with the birth of our second child, Madison Rose Reed. She came into this world like any other child - screaming and kicking, pink and rosy. She was our very special little girl. Little did we know just how special she would be.

Beginning around four months of age, we noticed Madison was having difficulty accomplishing normal physical developmental skills. She was unable to roll over, sit up, hold her head up and was just plain "floppy," like a rag doll. At six months of age, her muscle tone continued to decrease and she would consistently tilt her head off to one side; a condition known as torticolis (a sign of a genetic problem or birth injury). At eight months of age, Madison was diagnosed with the most severe and life-threatening form of Spinal Muscular Atrophy Type I. Based upon this original diagnosis, she was not expected to live past the age of two. As we have learned more and more about this disease, we believe her chance of survival is much better than the original diagnosis.

Madison is now almost 3 years old. We believe she has survived and beaten the odds, due in part to aggressive therapies and interventions that we have found to be most helpful. The disease has targeted two areas of her body the most - swallowing and breathing. She does not swallow well and has been fed through a G/J-tube since her first birthday. She has had many upper respiratory illnesses including pneumonia and the RSV virus. With the help, guidance and advice from Dr. John Bach, a pulmonary rehabilitation specialist from University Hospital in Newark, NJ, we have utilized his noninvasive protocol of Bi-Pap and the in/exsufflator. Madison has been using both machines now for the past two years and has not had any major illnesses requiring hospitalization. We are able to take care of her at home because of having this equipment on hand. When she is sick or feeling tired, she will ask for the Bi-Pap, which helps her breathe easier, expanding her lungs and allowing her to rest better.

Madison's abilities and limitations have decreased over the past three years. She has gone from sitting in an exer-saucer, reaching for objects and rolling from side to side to holding small objects, moving her arms and legs with much effort and sitting with support. She can talk and sing, but sometimes is difficult to understand. She loves sitting in her Kid Kart, going outside, and playing hide-and-seek with her brother, Kenny, who is 9 years old and unaffected. She is very bright and intelligent. She is a very loving and affectionate little girl with a real sense of her surroundings. Her spirit and will to live comes from a force beyond this earth. She wakes up in the morning with a smile that stretches from ear to ear. She ends her day with that same smile.

The best advice we can give to another family who has to face this disease is to gather as much information as you can about this disease to help you make a well-educated and informed decision on the course of action you will take. All SMA children are affected differently, and each family situation is different. What may work for one child may not always work for another child.

We would not trade Madison for any "normal" child in this world. Madison is like any other child. She has a spirit of a child, the playfulness of a child and the attitude of a child. The only difference is her muscles don't function normally. She has taught us many lessons in life that will continue far beyond life itself. If you look deep into her eyes - you can find her spirit and soul - the windows of our life. She is a true angel in every sense of the word. She was brought to us as a messenger and has a magical, mystical inner sense of all that is around her. - Annette Reed, RN

Casey will be celebrating his 3rd birthday in January of 2000. He was diagnosed with Werdnig-Hoffman (A.K.A. Spinal Muscular Atrophy Type I) Disease at 4 months of age, so reaching his 3rd birthday is a milestone we were told he would never achieve. Casey does have a tracheostomy and uses a ventilator for respiratory support. But the best way to describe Casey is by telling you he is a little boy who loves life, listening to his beloved pop music on his headphones, watching his PBS kid’s shows, and snuggling or rocking with the people in his life. He is very limited physically; he can only move his fingers and wiggle his head and toes. He has a wheelchair that can hold his ventilator so he's been getting out and about a bit more. He receives nursing care and has a teacher, speech-language therapist, physical therapist, occupational therapist, and even a pediatrician that makes house calls. Casey cannot talk, but he makes happy noises and frowns so we can tell whether he is happy or wants to do something different. The people in his life are always amazed by his spirit and love for life. - Sue and Gene O'Neill

My daughter, Rhiana, was diagnosed with SMA Type I at about 6 months of age. Since this was my husband's and my first child, we didn't realize how serious it was that she wasn't making progress with her developmental milestones. Her gross motor skills were poor; she could not lift her head or roll over, which other babies were doing at that time for their age. We just thought that she was a slow learner and in time things would work out just fine. How wrong we were!

Our pediatrician made an appointment for us to see a neurologist and this is where the nightmare began. Rhiana had blood drawn for a genetic test, which by the way, was a nightmare in itself because she had to be stuck about 5 times before they decided to do a femoral stick. Her results turned out positive and the advice was to take her home and love her because she may not live beyond the age of 2 years. That was in July and we did just that. We took her to the Jersey shore, an amusement park, shopping, church services, you name it. She loved to go out and see new things and people. She was so expressive with her eyes and her smile would melt the coldest of hearts. She was so smart too. Her eyes would follow you everywhere and if she felt she wasn't getting enough attention, she'd let you know it. "Mama, Mama, Mama," she would say and I would say, "What baby, what do you want?" Then she'd just let out the biggest smile.

Rhiana won 1st place in our town's Halloween parade; she was a Penn State cheerleader. My husband made a float for her to sit on that looked like a football field. She was so proud of her trophy. Just a few days after the parade though, things turned ugly. She could not eat cereal or drink from her bottle anymore, although we didn't know this at the time. That was the first time that she stopped breathing. She was revived and we brought her home from the ER. When we fed her again, she stopped breathing again. We brought her to the hospital again, only this time, she was admitted. We were at the hospital for a few days when we were told to try to feed her again. Bam, time number 3 - she stopped breathing. We were then transferred to another hospital about an hour away. I could not go in the ambulance with her and I was so scared that she wouldn't make the trip. But she did.

We were at the new hospital for about a week, and in that time frame, she stopped breathing for the 4th time when the "feeding team" told us to try to feed her by mouth yet again. Finally, it was recommended that she get an NG-tube. With that, we were sent home to care for her with the help of Hospice. I took a leave from work to care for her. We literally were trained on nursing practices in a day. I had to give breathing treatments, feedings, medicines and suctioning every couple of hours on a daily basis. It was worth it because she never stopped smiling with how sick she was. Then, 4 days after her 1st birthday, her little body decided it had had enough. She stopped breathing for the fifth and last time and attempts at revival were unsuccessful.

I really don't have any advice for others in this predicament, except to say how surprised I was to watch things go downhill so fast. It will be one month now that Rhiana went to heaven and the pain still burns inside my heart and stomach like it was yesterday. I loved her so much. We need to find a cure for this terrible disease that robs our babies lives. Goodbye my little lady; Mama loves you. In memory of Rhiana Gallagher 11/30/98 - 12/4/99. - Kim Gallagher

"Spinal Muscular Atrophy Type I" - that is not what I saw when I looked at my daughter. I saw her smiling face and those big blue expressive eyes and thought, what a truly amazing gift I have been given. Brittany Leigh was diagnosed at 7 ½ months old. We were prepared for bad news, but had no idea how terrible the news would be when we sat in the doctor’s office on August 3rd, 1998. A wheelchair - that is what we thought our daughter’s destiny was to be. That is nothing; she is intelligent, social and beautiful. She can still do or be anything she wants to be. You can imagine our horror when we were told that she would have a hard time surviving the upcoming winter!

Brittany Leigh was a fighter from the beginning. She was born 9 weeks premature and spent the first 6 weeks of her life in the hospital growing stronger and bigger until she came home. Brittany loved to smile and play. She loved to be talked to, read to and held. Brit-Leigh could not hold her head up, move her legs or sit unsupported. But that did not stop her from taking advantage of what she could do. She loved to touch things. She would get a kick out of us taking her hands and touching her piggy toes; she loved that. She loved to dance too. Part of physical therapy, I would sing songs to her and move her arms and legs around.

Brittany could hold onto small objects. We found really small stuffed animals with small legs that she could easily lift to her little face. We found little colored fish that connected together like monkeys in a barrel. She would reach for those fish; she loved them. She also loved her toothbrush. It was small enough for her to hold on to and move around and she could put it in her mouth and feel the bristles. She mouthed as much as she could. Bath time was a favorite past time for Brit-Leigh. She could move her legs slightly in the water and she would be so very proud of herself. She would smile and look at us like, Look at me, I'm moving my legs!

Brittany loved to be outdoors and to also be around people. She loved the sunshine and a light breeze blowing through her wispy hair. Brittany also loved to watch Winnie-the-Pooh. She would actually sit and watch it so carefully, as if she was taking every little thing in. It was really cute.

Brittany loved to be around other children as well, and our nieces and nephews, as well as my 4 year old brother, were so very sweet with her. Brittany knew when her daddy was home. She would hear the door, her head would turn around looking for him, and then she would give him the biggest smile you have ever seen in your life when she finally saw him or even heard his voice. Brittany seemed to know exactly what you were saying. She seemed to listen to you and you could read her face; she was so full of expression - those eyes drew you in - she was amazing.

The best advice that I can give to other parents, is to try and live your lives as normally as possible. We both took 1 week off from work when Brittany was first diagnosed, and explained Brittany's situation to our immediate family and closest friends. Then we both went back to work (we worked separate shifts, so one of us was always with Brittany) and did what we normally would do. I'm not saying it was easy, but we didn't want Brittany to notice our sadness. We wanted every moment to be as normal for her as possible.

Brittany went to the hospital to visit for 5 weeks. Even in the hospital, she was working her magic and everyone fell in love with her. She did not pull at her oxygen or her feeding tube (which was also in her little nose). She just kept smiling and being her own sweet little self. At that time, I took a leave of absence from work so that I could be with her. As far as medical advice, I learned that you are the parents and you have the final say in anything. If you feel your child does not need a particular medication or procedure, do not let anyone bully you into it.

Brittany Leigh touched so many lives in her short time with us. She smiled, laughed, and played. Brittany continues to touch others even though she is an angel now. My hope is that many more people will meet our truly special child and realize how very lucky they are to have a healthy child in their lives. Hopefully, there will be a cure for this terrible disease that claims the lives of so many beautiful, intelligent, genuinely loving children. - Jennifer Griffith

On September 2, 1998, I gave birth to a 6 lb. 7 oz. baby girl. She was such a pretty little girl with a head full of black hair and deep brown eyes. Everything appeared normal until I heard her first cry. It sounded very weak and rattled. The doctors said not to worry, she was fine. As time went on and Marissa grew older, I started to notice different things about her such as her hands always turned the wrong way and she had a hard time drinking her bottle (her face would turn red and she would use every muscle in her face to suck). We later found out about this very deadly muscle disease called Spinal Muscular Atrophy (SMA) which causes children to lose the ability to suck, swallow, and even breathe.

SMA children need suction machines, which we used on Marissa daily, and we had an oxygen machine to help her breathe. We gave Marissa a bath twice a day because when she was in the water she could move her arms and legs very well. It helped her build up some muscle tone and she seem to be happy in the water.

It is very hard to watch a child with SMA because they do suffer and it happens very fast. One night, I fed Marissa a bottle and put her to bed at 10:00 p.m. The very next day when she awoke, I put the bottle in her mouth and she could no longer suck. Within 12 hours she lost the use of one of her muscles. Marissa had to take a lot of medications to help dry up her mucus so she would not choke on it, and she needed Morphine to ease the pain and to try to calm her down so she would not breathe so fast and heavy. Then, when she lost the muscle to push out her bowel movements, she was given medicine for that.

She was never able to hold her head up or move it from side to side. She grew weaker everyday. If I was ever asked for advice on how to help a child with SMA, I would say to move their muscles every few hours, put their bodies under the water so they can move themselves, rub their legs, arms, and necks, and suction them as often as possible to keep them comfortable and clear. - Sandra Green

I am blessed with not one, but two beautiful little girls who suffer from Spinal Muscular Atrophy Type I. They are 2 years and 10 months old and the true light of my life. We were told they would never live to see their second birthday, but here they are continuing to make us thankful for each day and every moment we are allowed to spend with them.

As their mother, I see their abilities as limitless. As a matter of fact, my favorite thing to tell people is that they can do anything any other two year old can do, they just need help doing it. With arm support they enjoy finger painting, coloring with markers, playing board games, working on their computer, and tons of various craft projects. They are blessed with exceptional attention spans; they absorb anything and everything around them. As a result, at two years old, they know their entire alphabet, colors, numbers, and read various words. They are very bright and perceptive young ladies. They are thrilled to have someone lay with them and read them story after story. They never tire of this, even though the reader usually does. They love to play outside in their hammock. They love to fly through the air and demand to be pushed as high as possible and squeal with delight. They love swimming; in the freedom of the water they are able to move their arms and legs. They have specially adapted outdoor wagons that they love to be pulled in. They love for you to run as fast as you can while pulling them and they pretend like they are racing one another. They also enjoy collecting flowers and playing with their dog, Bocephus. They have a scooterboard with a seat in it. They use their foot or head to operate a switch to make the board go. It is a good practice for a powerchair when they get old enough. They have other switches that enable them to operate their electric train and various other toys.

The girls are very limited, but we try very hard to overcome this. They have trouble with head control and cannot sit unsupported or stand. Therefore, they have many different seats and swings for them to be positioned in. They are never in one spot very long. Since they have little use of their arms, we support their arms and help them so they can complete many activities.

There are hundreds of things that I love about my two little girls, but I would have to say that their smile is my favorite. They have a smile that will truly melt your heart. It is the reason I fight so hard for them everyday. If they happen to lose that beautiful smile one day, I know that will be their way of telling me they are getting tired.

My advice to others would be to look past the terrible disease and find the beautiful child underneath. Spend lots of quality time with them, and don't take anything for granted. Love them unconditionally and try to focus on things they can do and not the negative. Also, use your own judgment in their care. Make your own decisions about what is right for your child and your family.

All of these kids are truly special and many people call them angels; I am one of them that does. The reason I call them angels is because they come down from heaven, change your whole life around, and then most leave you after only a short time. They make you see the "bigger picture" in life and focus in on what is truly important in this world. Unbelievable pain is experienced, but I feel it is balanced with unbelievable joy. Never before would I have ever been able to truly appreciate and enjoy all the precious simple things in this life. - Dana Swanson

SMA Type II

It has been quite a year. Life started out pretty busy in the beginning of 1999, with three beautiful children. We had no idea how busy it would get by the end of ’99. We were blessed with a special sweet little girl in October 1998, named Katelyn. Little did we know how special she was. When she was about 5 or 6 months old, we started becoming a little concerned that she was not hitting her "milestones" in a timely fashion. By the time she was 9 months old, it was quite obvious something was not as it should be. She still has not hit those same "milestones" we were concerned with at 6 months (i.e., rolling over, sitting up, using her legs, etc.). We were sent to the Children’s Development and Rehabilitation Center to see a specialist, and then began the many tests. After about 3 months of different tests, on October 21st, Katelyn’s 1st birthday, the doctor called. One of the tests came back positive; Katelyn has Spinal Muscular Atrophy Type II.

It’s been 5 months since we started on this journey - 2 months since the diagnosis - and Katelyn is doing okay. She has learned to sit on her own with the help of her physical therapist. We are hoping and praying that at least she can learn to roll over on her own so she can be a little mobile. Of course, our ultimate prayer is that she will be healed completely, but we are willing to accept, with a grateful heart, whatever the good Lord plans on using this sweet little girl’s life for. This has sure given us a new look on life. Kara and Kasey have been such a blessing too. They really love Katelyn and pray for her all the time. They are both very good at playing with her and get so excited whenever she does something new. It is absolutely one of the most wonderful things to watch; the tender sweet innocent love of a 5 year old and a 3 year old for their little sister! I can not believe the Lord has entrusted us with these precious gifts! - Tammy Truax

Caitlin was born on March 13, 1996. She was diagnosed with SMA Type II in November 1997. Caitlin walks with the assistance of AFOs and a walker and has also taken 25 unassisted steps. Caitlin does not have any respiratory problems. She has great upper body strength. Her major weakness is from her waist to her knees. She toilets and feeds herself.

Caitlin attends a special needs preschool 2 mornings per week for physical and occupational therapy. Her physical therapy includes horseback riding therapy and water therapy. She also attends a regular day care on a full time basis. Caitlin attends Sunday school every week. She has a very active social schedule.

Caitlin recently underwent some developmental testing. Her vocabulary tested at 5 years, 3 months. She will be starting dance and piano lessons after her fourth birthday, and voice lessons may soon follow. She is a joy! - Mary Beth Brown

When Oliver was born in April of 1998; we thought we had the "perfect" family. Although Oliver surprised us by coming 5 weeks early, he scored 9 at one minute and 9 at five minutes on his APGARs. We congratulated ourselves on having another strong healthy boy (joining his big brother Alex). From the get go, Oliver was an easy going, happy and very pleasant baby. I told many friends he was my reward from God for having such a busy, in-to-everything first baby.

In September of 1998, we noticed Oliver wasn’t standing up or sitting like most kids his age, but figured he was just a laid back kind of baby. When we took him in for his 6 month check-up with our nurse practitioner, she was a little concerned but told us not to worry. By November, we noticed he was actually getting weaker instead of stronger. So, in to see the pediatrician we went. Our pediatrician sent us to a neurologist for testing. After an MRI, an EMG and a blood test, we were given the diagnosis of Spinal Muscular Atrophy Type II. Leaving the doctor’s office, the words "never walk" and "die of respiratory failure" kept ringing through my mind. Our whole world felt like it was collapsing. We contacted Families of SMA the very next day after receiving the diagnosis. The support and information we received, although overwhelming, was tremendously helpful.

We fumbled through the first month in a cloud of confusion and disbelief, after which, we started to come to terms with Oliver’s limitations. He would never walk and likely never sit independently. Someday he may need a ventilator to breathe for him and a feeding tube to feed him. However, we started to see hope in others who had been in our shoes. In June, we attended the FSMA conference in Milwaukee. The experience was bittersweet. Seeing all the other children living with SMA and the smiles on their faces was uplifting. On the other hand, seeing how truly dependent they are on others for the most basic needs revealed the reality of our Oliver’s future.

Today, more than a year after diagnosis, we are living with hope. Oliver has become stronger through physical therapy and proper nutrition, despite what doctors had originally told us. As a parent, who has been there (and is still going through it), my words of advice for the parents of newly diagnosed SMA children is don’t give up hope and talk to the "experts" - parents of children with SMA. Doctors don’t always know a lot about SMA. Parents who have been there can provide a wealth of information regarding many different issues.

Oliver is a source of joy and encouragement to everyone he meets. He always has a smile on his face (except when doctors are involved!). Watching him work so hard just to play, all with a smile on his face, is a real eye opener to the courage our special children have. He is a gift for our family and we cherish each moment we have with our special little guy. - Lisa Huston

Kayla was born March 25, 1996. Kayla passed away July 27, 1997. She was 16 months old when she became a beautiful Angel. Kayla was my niece. I started babysitting her in October 1996; this was a job I loved doing. Everyday, I looked forward to seeing my beautiful niece. I also have a 4 year old daughter, Amber, that loved being with Kayla everyday.

Kayla was a very happy and loving baby, and although she was physically unable to play, you could see in her big blue eyes that she was playing through our daughter, Amber. Amber always included Kayla in her daily activities.

Let me tell you about Kayla and the reason she passed away. January 1997, Kayla was diagnosed with the disease, Spinal Muscular Atrophy (SMA) Type II.

Kayla was never able to roll over or walk, and shortly lost the ability to sit up at all, as well as head control; all things that Spinal Muscular Atrophy took from her. Kayla had a personality that would charm anyone. Her smile, her eyes and her laugh. Though she was unable to do things as a regular child, she didn't let that stop her from having fun.

In April 1997, the reality of this disease Kayla had really hit home; this was the beginning of her battle. Kayla developed pneumonia, which caused half of her right lung to collapse (common in SMA patients). Doctors at this point gave Kayla less than a year to live, but she was a fighter, and her will to live was more than doctors ever could expect. Kayla was in and out of the hospital for the next four months, up until her finally battle. July 21st Kayla entered the hospital for the last time. The doctors told us Kayla would not be able to recover, for she had become too weak to continue to fight. July 27th, the good Lord took Kayla as he saw fit, in her mother's arms.

Everyone needs to know of this horrible disease, for babies are dying every day from it. - Christie Dickerson

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Spinal Muscular Atrophy, the following listserv is available:

SMA.net Public e-mail list - To subscribe, send an e-mail message to merlini@ior.dsnet.it with any information about you and your child that you would like to share.

For more information on Spinal Muscular Atrophy, please see the following helpful references:

 

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