Kenyan-American mum narrates her son’s Autism and rare chromosome disorder

| September 27, 2016 | 0 Comments


My name is Mary Kimari, a wife and a mom to two handsome boys. I was raised in Kenya and moved to the United States as a teenager 20 years ago. I presently reside in Tampa Bay, Florida with my beautiful family.

My oldest son’s name is Cameron “Cam” and he has autism. Cam is a 9-year-old sweet boy who is confined inside an uncooperative body. He is handicapped by lack of ability to speak but that does not mean that he has nothing to say.

How was cameron diagnosed with autism, and as a parent, what challenges did you face during this experience?

We noticed at 8 months old that Cam was incapable of sitting down. Support time and tummy time were also excruciating for him. At the urging of my husband, I hesitantly scheduled an appointment with the pediatrician for a comprehensive medical analysis. In all honesty, I did not think there was anything to be concerned about. Cam and I went to the doctor as scheduled and shockingly the doctor did not perform any medical tests. Nonetheless, she did observe Cam for a couple of minutes (literally) and concluded that he had Spina Bifida. I was so confused by her conclusion and left her office in tears.

Determined to find out what was going on with our first born, my husband and I immediately switched to a well-respected pediatrician in our community who immediately referred us to a neurologist for advance analysis. The neurologist ordered an EEG (an electroencephalogram is a test used to detect abnormalities related to electrical activity of the brain) and EKG (an electrocardiogram is a test that checks for problems with the electrical activity of the heart) both of which came back normal. However, our son was exhibiting a lot of autistic features therefore the neurologist diagnosed him with PDD-NOS, a wastebasket for mild autism.

3 months after PDD-NOS diagnosis, the neurologist ordered a Chromosomal Microarray (CMA) test that looks for extra (duplicated) or missing (deleted) chromosomal segments, abnormalities of chromosome number and unbalanced rearrangements. I got a phone call by the neurologist himself approximately two weeks after the CMA test was ordered and I instantly knew that something was terribly wrong. In my experience it is never a good thing when the doctor himself calls a patient! I paid close attention to the neurologist as he struggled with words in what felt like hours. Finally, he mastered the courage to tell me that the lab results were back and unfortunately my son has PTLS chromosomal disorder, Potocki-Lupski Syndrome. He proceeded to tell me that PTLS was a micro duplication of band 11.2 on the short arm of chromosome #17. Apparently 80% of PTLS patients show some autistic features which explains why Cam was initially diagnosed with PDD-NOS. The neurologist referred us to a geneticist at University of South Florida (USF) because he did not have any experience dealing with PTLS patients. As it turned out, the genetics department at USF was not familiar with PTLS either simply because it was a newly discovered syndrome.

To make matters worse, our insurance refused to cover therapies services using PTLS code since they were not familiar with the Syndrome. My son was diagnosed with classic Autism Spectrum Disorder at 4 years-old so he can get services covered through the insurance. Getting ASD diagnosis is one thing but accepting it takes time. I went through shock, sadness, anger, denial, loneliness but slowly and surely I finally accepted our new reality. Every now and then, I still feel helpless and angry that autism has resulted in a life much different than what I had planned.

How does cameron’s rare chromosome disorder affect his development and what has been his journey of treatment?

PTLS syndrome has affected Cam in every aspect of his life. He has limitations in mental functioning and in skills such as communicating, taking care of himself and social skills. He is considered nonverbal although he has a few words. He suffers from sensory integration disorder, a condition in which the brain has trouble receiving and responding to information that comes in through the senses. I have been told by occupational therapists that he is the most sensory challenged kid they’ve ever met!

Cam’s journey of treatment has been exceptionally draining financially, physically and emotionally. I have spent countless hours on the phone fighting with insurance companies. Simply put, the insurance companies don’t like to pay for services! My husband and I have spent the last 9 years taking our son from one appointment to another. Cam started Occupational Therapy at 8 months old and he is still in treatment. He could not walk due to low muscle tone so he did physical therapy for roughly 1 year. He did cranial therapy treatment at 10-18 months old where he had to wear a helmet 23 hours a day to correct plagiocephaly. Speech therapy was started at 2 years old and he is still in treatment. At 3 years old, we started teaching him how to communicate using ASL sign language and we then progressed to Picture Exchange Systems (PECS). We are currently using Proloque2go iPad app works very well for all of us. At 5 years old, Cam started part time applied behavior analysis (ABA) therapy in a home setting due to insurance restrictions. We are thankful to Affordable Health Care Act because our son is now able to get full time ABA therapy at school and home setting. From a medical standpoint, we are very lucky to have a dedicated team of professionals which consists of: geneticist, neurologist, gastroenterologist and developmental technician. They work, collaborate and strategize a cohesive plan of care for our son!

At this time, his plan of care includes another micro-array (CMA) test since a lot has changed in the last 8 years. Cam’s geneticist is hoping to get more answers on his genetic makeup so she can formulate a new plan of care. It is quite possible that the test may be able to show things that could be treatable but we won’t know until we get the test results. Moreover, we are working with an endocrinologist to test his hormones, Pulmonologist to test his respiratory system and an ENT to test his hearing. We are willing to do whatever it takes to improve our son’s quality of life.

What resources, communities, or systems of support have been especially valuable to your family?

Raising Cam is definitely a family affair that involves myself, my husband and our 7-year-old son Aidan. Still, we can’t do it all and rely significantly on educators, therapists, respite services, and a baby sitter. To begin with, Cam attends a wonderful private school in our community specifically for kids with special needs like Autism, Down syndrome, etc. I am amazed by the love and care extended to him by all his educators. His school tuition is paid for by the state of Florida using McKay scholarship so we don’t have to worry about that. Cam has a full time private ABA therapist that accompanies him to school every day…it makes a world of difference especially during transitioning. Additionally, he gets free speech therapy at school through the district a requirement on his Individual Education Plan (IEP). To supplement speech therapy provided at school, Cam gets private speech therapy and occupational therapy in a clinical setting once a week.

We are lucky to live in a community that cares about people with all abilities. Cam participates in Buddy Baseball, Buddy Football and Adaptive Soccer whenever possible. Once a month, we use respite services for 3 hours through a local church that provides parents and caregivers a time of refreshment. Additionally, he attends adaptive Sunday School at church which makes it possible for us to worship while he is safely cared for in a loving, Christ-centered environment. Lastly, we have a dedicated baby sister who happens to be a register behavior technician (RBT).  I would like to point out that these resources were not available when we started this journey. In fact, it took a lot of hard work and research to put together a support system and resources to help us with Cam.

What are your hopes for cameron’s future?

I worry about Cam’s future when my husband and I are no longer here to protect him and take care of him. I don’t know what the future holds, however, I am very optimistic. My hope is that his team of doctors will be able to find something treatable in his genome. The best gift I can give him is to help him find his own voice so he can have a somehow independent lifestyle. I will keep working hard until we find the missing puzzle…

What advice can you give to other parents who are raising a non-verbal child on the autism spectrum?

I know how agonizing it is to love so much, to want the best for your child and not quite get there. Take the time to cry and scream following the initial diagnoses but be careful not to stay in that dark place for long. Your child needs YOU, so pull yourself up by your bootstraps and prepare to fight because YOU my friend are your child’s voice. It will certainly take some time to comprehend your child’s disorder and the impact it has on everyone in your family. Life as you know it will change but in time…it will be alright!

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