Cameron Kimani A.K.A “lil Usher” was born on Nov 18 2006 at 6.08am and weighed 5lbs, 6 ounces. He was a tiny handsome boy, long, head full of long hair, and beautiful eyes. He quickly adjusted to the outside world with little assistance. However, he was not interested in latching and we started him on bottle feeding on day one. Our stay at the hospital was short lived as everything was going flawlessly with Cameron. We were released from the hospital after 48 hours and took our little bundle of joy home.
The first 3 weeks at home were stress-free. Cameron would feed and sleep; then feed and sleep more. Things changed at the end of the fourth week when he started crying uncontrollably for up to 6 hours non-stop. Sometimes he’d stop for a few hours, and then start the 6 hour cycle again. Other times, he’d stop for 8 hours, and then go on an 8 hour screaming-crying session. It was nerve wracking; the headaches, the stress, the lack of sleep, and the lack of control to what was obviously hurtful to the little infant. To make it worse, we did not comprehend what was going on. He had gone from a happy infant to a screaming, screeching baby who could not be comforted by anyone. We took him to the pediatrician who diagnosed him with Colic and instantly put him on Nutramigen a pre-digested formula to aid ease the pain. This made it a little better but the crying was still agonizing. After trial and error we found simple things to calm him down like swaddling, swinging, vacuum cleaner noise, dryer, running water etc. He finally grew out of colic at about 3 months (it felt much longer than that).
Life was pretty normal for us when Cameron was between 3 to 6 months old…we were hardly at the doctors. Although he was at the 5th percentile on the growth chart, everything else appeared fine. At about 6 months we observed that Cameron was not interested in sitting up or doing tummy time. His pediatrician assured us that he would be fine…boys are always behind she would say. We also observed that his head had become flat on one side because he was not turning at night. The most alarming thing to us was the screaming during tummy time. This showed how weak his stomach muscles were so we knew something had to be wrong. I happened to be the one taking him to his pediatrician at about 8 months for further assessment. Maybe I should not have been alone because she shocked me after spending about 10 minutes with us and determining that “it appears Cameron has cerebral palsy”. I was dumb-founded and felt as if my life had just been sucked out of me. I don’t know how, but I politely asked her how she came to that conclusion without any testing and her answer was that Cameron was not able to transfer a pen from the right hand to the left hand which portrays cerebral palsy symptoms. I quickly left and went home knowing that cerebral palsy was a very bad diagnosis, but I couldn’t totally grasp the whole picture. I did a search on Google regarding Cerebral Palsy and what I found had made me paralyzed. How could this be? Do you mean to tell me my baby will be confined in a wheel chair for the rest of his life? Not my son I told myself…. This just wasn’t making any sense. My husband came home that evening and I couldn’t bring myself to break the news to him. I had received the diagnosis in a heartless way and I didn’t want my best friend to go through what I had gone through. It would take 3 days before I was finally able to break the news to him. His reaction was to call the doctor’s office and let them have it but we decided to go to a new doctor; hoping cerebral palsy was the wrong diagnosis.
The first thing his new doctor told us was that it was going to be okay and that he was in this with us for a long haul. That was very comforting. He then referred us to USF early intervention for thorough testing. Cameron was diagnosed with developmental delays/low muscle tone and immediately started physical and occupational therapy. His physical therapist also referred him to a cranial specialist for plagiocephaly (flat head treatment). The specialist designed a helmet to correct/re-shape Cameron’s head. He wore the Helmet for 23 hours a day for about 6 months and only took it out for 1 hour which allowed us enough time to clean it. At about the same time Cameron saw a neurologist for additional testing. Dr. Millon instantly ordered an EEG and EKG to aid with his evaluation since my son was still very young. The results for both tests came back normal which was great to hear. However, the doctor observed very mild autism symptoms so he diagnosed Cameron with PDD-NOS, which is a “catch all” diagnosis that means "on the autism spectrum, but not falling within any of the existing specific categories of autism”. Physical and occupational therapies were very successful. Cameron sat at 10 months, crawled at 11 months and walked unsupported at 15 months. He graduated from physical therapy at 18 months after meeting all his goals. At that time we decided to add speech therapy to his treatment since he still had no words. Within 6 months of speech, Cameron had added up to 9 words to his vocabulary and by his 2nd birthday he had mysteriously lost all of it! Oh God, what next?
Cameron returned to his neurologist in April 2009 for a regular follow up. In passing, the doctor mentioned of a new micro-array test that offers a way of testing a sample of cells and shows any genetic anomalies. It sounded encouraging and truly we had nothing to lose at that point…we decided to go for it. The test was administered by Diagnostic labs. It was a simple blood draw that took a couple of weeks to get results. Frankly we had forgotten about it until one day when I got a phone call from the neurologist himself instead of his nurse. I instantly knew the results couldn’t have been good. Still I was not prepared for what he was about to tell me. He said, “Ms. Kimari, we got Cameron’s results from Diagnostic Labs. I am sorry to tell you that your son has Potocki- Lupski Syndrome. It is a fairly new diagnosis and we don’t know much about it other than the fact that is a duplication of chromosome 17. Here’s a number for you to call a pediatric geneticist for additional testing and treatment and please make sure you call her today as the wait list can be as long as 6 months”. I hanged up the phone and started crying. I cried for hours. What did we do wrong? Could we have caused this syndrome? It was hard to comprehend anything at that very moment. It’s not that we didn’t recognize something might be wrong before the doctor’s call but to receive that official diagnosis made it all so real. A part of me died the day Cameron was diagnosed with PTLS. My husband was dumb-struck too but he was much quicker to acknowledge the fact that our son had limitations but I was not ready to accept. It was the loneliest time of my life. I stressed out all day long and had nightmares all night long. Then I got into denial mode, which became despair and gradually turned to anger. In my mind, my perfect son was gone and I was not about to have an imperfect son. My husband worked hard to encourage me and to help me focus on the reality. Sometimes I’d listen and work hard to get it together, but I’d slip back to the denial, anger, and helplessness. Most of the times, I’d be angry at him because he didn’t appear as angry and helpless as I was. He was focused on reality and I just couldn’t see how he couldn’t wilt. Little did I know that he too was going through his moments, but he hid them from me because he didn’t want both of us to have weak moments at the same time. It took a while to see through this, but until then, I felt as if I was the only one struggling; to the point where I didn’t notice the major contributions, attention, and sacrifices he was also making for Cameron. One area that really opened up our eyes and helped us tremendously is that the people in our lives provided us with a lot of encouragement and words of wisdom. They told us how God looked down and decided that we were the best parents in the world to care for a very special child…Cameron. I also met two wonderful PTLS moms: Julie and Shelly who gradually showed me there’s life after PTLS diagnosis. Their experience helped us learn that PTLS diagnosis was not the end of the world but rather the beginning of a new one. All we had to do is open our eyes and see. My friend Julie reminded us that Cameron was not aware he’s different from other children. He’s happy and comfortable in his own skin and the sooner we came to terms with the reality the easier it was going to be for our whole family. That was very eye opening for us and slowly but surely I acknowledged the fact that this was our new normal. It was time to drop the grasshopper faith and poor old us mentality and go to war for our boy. That’s precisely what we did!
Out of love and desperation we tried hours and hours of costly biomedical intervention treatments. This was a huge waste of time and money. We were hoping for a quick solution without keeping into consideration that PTLS is a genetic disorder that touches every gene in the body. Needless to say there’s no quick fix for PTLS. We took a step backward and acknowledged the best approach was to study everything we could about Potocki Lupski Syndrome, education systems for differently abled individuals, human rights and finally tested and true therapies. Most importantly we came to understand that time and patience was going to be our best weapons in this journey.
We have a team of professionals who work tirelessly for our little boy. This includes ENT, gastroenterologist (GI), nephrologist for kidneys, geneticist, neurologist, developmental pediatrician, general pediatrician, cardiologist and ophthalmologist. Additionally he takes the following therapy classes: speech, occupational, applied behavior analysis (ABA), therapeutic listening and Wilbarger Deep Pressure and Proprioceptive Technique. He also attends Pre-K and adaptive swimming lessons at a local club.
Cameron’s major issues at this point are speech, tactile defensiveness and regurgitation. He is still nonverbal but is starting to make CVCV sounds as well as imitating single words. His receptive skills have gotten better since we started using therapeutic listening. We are optimistic his expressive skills will catch up soon. He enjoys listening to vocabulary tapes like my baby can read and bumble bees.
Out of all the children we know Cameron has the best disposition: heart of an angel, most genuine smile and overall a very well rounded little boy. His energy is infectious and his love is like none other we have ever experienced. The world would truly be a great place if we all had a fraction of Cameron’s heart. He may not speak but that does not mean he has nothing to say. He may not do things exactly like other children but that does not mean he is inadequate. Make no mistake, it takes a lot of hard work to raise a child like Cameron but it is well WORTH THE EFFORT! We have accepted that Cameron started in a cocoon but in the right environment and dedication, our dear son will obtain the skills and the wings to become a social butterfly. We believe that the world will enjoy his colorful flight that’s full of love and splendor.
We hope our story gives a family out there a sparkle of realism, hope, faith, and optimism and that they can use the great resources and wonderful treatments available to help battle PTLS.
Contact info: mary_kimari@verizon.net
