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"During my pregnancy, I did everything by the book." That statement has been spoken by many mothers; women who, like Paula Stimson, would have never guessed their child would be different.
And yet, many children are born with physical, mental and learning disabilities, and will face a lifetime of hurdles and challenges that even the strongest of humans would be wary of.
So what happens after the shock settles? Once a parent learns of the struggles ahead, is their life ever the same? Each parent, each family, each child, all will handle their specific situation differently.
ADVANCE would like to introduce its readers to one child who is taking giant steps of progress, battling a rare genetic disorder that many Americans are unaware of. Kyra Stimson, only age 4, inspires all who meet her; Paula Stimson is Kyra's determined mother whose unconditional love is the backbone to her daughter's progress, and Kate De Sherlia is the physical therapist who was determined to keep Mom and child fighting to achieve more.
Angelman Syndrome
Named after British pediatrician Dr. Harry Angelman, who first described the disorder, Angelman Syndrome (AS) was first discussed in 1965. It did not appear in North America until the 1980s and though a precise statistic is currently unknown, it is believed that 1 in 15,000 to 1 in 20,000 are diagnosed with AS.1 The cause is genetic, due to the loss of the maternal segment of chromosome 15.
When a child is conceived, they receive two copies of chromosome 15, one from the father and one from the mother. Within that chromosome are genes which are activated or inactivated depending on the chromosome's parent of origin. Also known as genetic imprinting, this parent-specific activation means that at one time a gene may be turned "on" on the chromosome inherited from the mother, but turned "off" on the chromosome from the father.
In AS, deletions only occur on the chromosome 15 inherited from the mother. If there is disruption of genes that are active on the chromosome 15 from the father, it will cause another developmental disorder known as Prader-Willi syndrome (PWS).1
Symptoms
There are many different symptoms of AS, some occurring in all children, others occurring in less than half. Consistent in all cases of AS clinicians and parents will notice:
- Developmental delay (functionally severe);
- Speech impairment (using none or minimal words; non-verbal communication skills received higher than verbal);
- Movement or balance disorder, usually ataxia of gait causing a tendency to hold arms up while walking;
- Affectionate nature and frequent outbursts of laughter/smiling;
- Hyperactive behavior and short attention span.1-2
In more than 80 percent of those diagnosed with AS, clinicians and parents will notice:
- Delayed, disproportionate growth in head size, usually resulting in microcephaly by age 2;
- Seizures/epilepsy, with onset usually over 3 years of age;
- Abnormal EEG. 1-2
Associated in 20 percent to 80 percent of patients are the following symptoms: 1-2
- Strabismus (squinted or cross-eyed);
- Tongue thrusting; suck/swallowing disorders;
- Frequent drooling, protruding tongue;
- Hyperactive tendon reflexes;
- Feeding problems during infancy;
- Prominent mandible;
- Increased sensitivity to heat;
- Wide mouth, wide-spaced teeth;
- Poor sleeping pattern;
- Attraction to/fascination with water;
- Flat back of head.
The Diagnosis
Paula Stimson has worked in the entertainment industry for more than 16 years in various capacities. She has held positions in the music industry, worked as an account executive at promotion/marketing firms representing clients such as MTV, TNT and TBS, and spent several years with ABC Cable Networks and ESPN.
With such a successful career it seemed natural to marry later in life, at age 34; her husband, Nial, was 41. When the two decided to start a family, Stimson took all precautions being over the age of 35-she experienced pregnancy "by the book." She made sure to get an amniocentesis test to determine if the child was developing normally. All blood work and tests came up just that: normal.
Around age 8 to 9 months, Stimson's new baby girl, Kyra, began showing a few developmental delays (i.e., not crawling or sitting up as she should be). With a recommendation from her pediatrician, Stimson took Kyra to the Frank D. Lanterman Regional Center, a private, non-profit corporation that serves more than 7,000 children and adults with developmental disabilities, based in California.
In December 2006, geneticists and therapists met with the Stimsons to interview and observe Kyra. They speculated AS and decided Kyra would need a very specific test (methylation studies) to determine if she indeed had the rare condition. Unfortunately, it took almost four months for the results to come back.
"During that time of waiting for the test, I think that a lot of people would have read up and searched the internet for more information on what the geneticist was speculating that Kyra had," said Stimson. "But I think that everyone handles situations like this differently. Since there was always such speculation about Kyra having this and that, my husband and I chose not to read anything about Angelman Syndrome until the official test results came back."
In April 2007, the official diagnosis was delivered: Kyra indeed had Angelman Syndrome.
"I was devastated and shocked," recalled Stimson. "You want the best for your child and you never think that something like this could happen to you."
Stimson immediately jumped online to research AS and was overwhelmed with the immensity of her daughter's diagnosis.
"I was so blown away and saddened about the lack of speech and that as adults people with [AS] are not able to live by themselves."
Stimson and her husband both went through the motions of coping with this distressing news. With the support of family and friends, as well as counseling, the Stimsons took their strength and love for their daughter and began to seek physical therapy for Kyra.
Rehabilitating Mind, Body, Heart
Kyra has been receiving both occupational therapy and physical therapy since January 2006, when she was 14 months old. Once the diagnosis was official, it was time to refocus the physical therapy.
"I remember being given a handbook about Angelman Syndrome shortly after the test results came back and Kyra was diagnosed," Stimson recalled. That handbook came from Kate De Sherlia, an independently subcontracted physical therapist in California.
De Sherlia first met Kyra in 2005 during the child's initial evaluation. De Sherlia suspected AS and went out of her way to begin researching the condition and pulling together information for the family, just in case.
"The fact that Kate took the initiative and requested more info about AS on her own, unbeknownst to me, shows that she really wanted to understand more about AS and Kyra," Stimson said. "She wanted to find additional ways to really connect with Kyra and to help her. That is a good therapist."
To De Sherlia, she may have just been doing her job, but to families like the Stimsons, she used her clinical knowledge, instinct, and big heart to not waste any time in making sure Kyra received the help she needed.
"You may have a clue of the symptoms for Angelman Syndrome, but really it is not our area to diagnose," noted De Sherlia. "It is our job to treat based on referrals from the pediatrician as well as using observation, history and findings."
At 12 months of age, Kyra was not sitting, rolling or performing "tummy time," and she had no motor program on how to perform these tasks. De Sherlia began using a theraball to assist with midline orientation, strength and stability. "I provided manual assist for rolling from supine to prone bilaterally in each direction."
Especially in cases of AS, it is very important to use the child's natural motivation to encourage active range of motion.
"In Kyra's case it was her pacifier, toy or Mom's encouragement," De Sherlia said. "I would have Kyra move functionally toward the object or person when rolling. When she began to initiate the movement herself, she was rewarded with lots of positive encouragement and deep tactile stimulation." Learning to roll and reach for an object was crucial in creating social contact.
Kyra was in no doubt receiving the aid she needed through physical therapy twice a week, as well as occupational therapy and speech therapy. To support her daughter even more, Stimson made a difficult and selfless decision, one that Kyra may one day understand. Choosing to stay home fulltime, Stimson was there for every minute of her daughter's care.
"You should never give up on your [children]," said Stimson. "You need to challenge them to continue to learn and to expose them to as much as possible."
The Stimsons have done it all, from enrolling in speech classes to better communicate with their daughter, to researching what therapies would meet Kyra's specific needs.
"One therapy that I can't stress enough that has been so helpful for Kyra on improving both her learning abilities and her daily living skills has been ABA Therapy, which stands for Applied Behavior Analysis," Stimson added. "A lot of autistic children receive ABA Therapy and it also really helps kids with AS."
Kyra attended specific classes to prepare her for preschool, and in preschool, Kyra receives the following services: occupational therapy one hour per week; adaptive PE a ½ hour per week; physical therapy a ½ hour per week; and speech therapy one hour per week.
Kyra also received equipment funded by Lanterman Regional Center, which included a standing frame to help stretch her legs out and to build her endurance for standing, as well as splints and a custom ankle foot orthosis.
As with all therapy, there have been instances of achievement and those of disappointment. Kyra has felt everything from the success of taking steps on her own, to the frustration of not being able to perform a task. All have had to watch Kyra in moments of joy, as well as stand by her side during episodes of seizures. There are obstacles, hurdles and challenges to overcome. Yet, all three young women remain positive, resilient, and focused to make each day more successful than the last.
"I put Kyra first," stated De Sherlia. "I say, 'OK, Kate, you are going to give 100 percent for this child. If you succeed, celebrate. If you fail, fail trying with all your heart. That's all you can do; the rest is up to what the child gives back and what the family helps you with." And the Stimsons have proven just what they are capable of.
"Paula never shied away from Kyra," De Sherlia praised. "I watched this beautiful family go from both parents working full-time and really loving their careers to Paula becoming a full-time mom. I have been privileged to watch and support Kyra and her family. It really amazed me to see the entire family attend AS conventions, go to group support and receive counseling. They cried and talked out loud about their fears and frustrations. I watched this wonderful family really empower themselves and become advocates for their child."
As Stimson juggles her daughter's therapy with time for her marriage, family and friends, she relies on taking it one day at a time.
"Some days will be tougher than others," she said. "You can drive yourself crazy trying to imagine what your life is going to be like but you need to focus on today and be really present for your child. It can be a challenge, especially when you start to realize that certain occasions (such as Halloween or your child's birthday) can bring both joy and melancholy."
The Road Ahead
Currently at age 4, Kyra communicates by pointing, touching, tapping and using the Picture Exchange Communication System (PECS) by Pyramid Educational Consultants. She is also trying to learn signs, which will help the whole family converse better. Today, Kyra can sit up, walk and even climb independently.
"I met with Kyra recently," recalled De Sherlia, "and she climbed out of the car, walked up stairs, climbed up onto the couch, and sat next to me with the biggest smile on her face. Tell me what else do you need in life, but to see all your hard work resonant through someone so vibrantly?"
All who have met or worked with Kyra are hopeful for a future of continued success. Stimson has classes lined up for herself, her family and her daughter for the future. As members of the Angelman Foundation, the Stimsons also receive support, educational opportunities and resources to help Kyra.
"By being educated about AS, I am able to employ techniques, strategies and therapies that can help my daughter," Stimson added. "When I look at my daughter, I don't see Angelman Syndrome. I see Kyra-a little girl who I love very much and who continues to grow and amaze me and others in so many ways every day."
References
- Facts about Angelman Syndrome. (2009). Angelman Syndrome Foundation, Inc. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome/. Accessed on Dec. 1, 2009.
- Angelman Syndrome. (2009). Wikipedia. http://en.wikipedia.org/wiki/Angelman_Syndrome. Accessed on Nov. 28, 2009.
Lauren Himiak is a freelance writer and frequent contributor to ADVANCE.
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