Stephen at 6 years old
Stephen at 19 years old
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Stephen
Stephen was born in the early morning hours on August 27, 1984. After a 4 hour long breech delivery, he came into the world with just a soft whimper, not the lustful wail you expect from a newborn. Stephen was as floppy as a wet noodle and he did not have a sucking reflex. My husband and I knew something was terribly wrong. He was immediately transported to the NICU at McMaster Children's Hospital in Hamilton. There, they did numerous tests, but could not give us a diagnosis. After 14 days at McMaster, we had learned to naso-gastric(NG) tube feed him, and we took him home.
We were very unsure and scared what the future would hold for Stephen. Numerous tests were conducted over his first year of life, including a CAT scan, EMG, muscle biopsy and a chromosome test. These all came back negative and frustrated us even more. Suddenly, between 21/2 and 3 years of age, Stephen began to gain a tremendous amount of weight. At our 3 year check-up, many of his symptoms finally completed the puzzle and the diagnosis of Prader-Willi Syndrome (PWS)was given.We were given only discouraging literature about PWS back then. Remember, this was 19 years ago and less was known. It broke our hearts. I remember crying every day for many months after the diagnosis, not knowing what our son's future would hold. We did manage to pull ourselves together and decided we were not going to let this beat us. As a family, we would do our very best to help Stephen succeed in life.
Stephen's milestones were all delayed, but once he discovered he could do something, he never stopped trying. We continued on with life like any normal family. When Stephen was 15 years old, we requested a referral to an endocrinologist after learning about the benefits of growth hormone (GH) therapy. Stephen had the stimulation tests performed, which did show he was GH deficient and had a delayed bone age. At 16 years of age, at 4'11" and 135 lbs, Stephen started Growth Hormone Therapy. It has been a great success. Today, at 19 years old, Stephen has a completed height of 5'6" and weighs a healthy 128 lbs. What an accomplishment for someone with PWS! We will continue to request GH therapy for him at an adult maintenance dose to help with weight, maintaining muscle mass and bone density and for the psychological benefits GH provides. We hope other parents and endocrinologists will realize that GH therapy is just as important for our adults, as it is for children, since most will continue to remain GH deficient throughout their adult years.
In the fall of 2003, Stephen switched high schools and is doing very well. Finally, he seems to have teachers and an excellent educational assistant who are willing to learn about PWS and understand his individual needs. Stephen has 12 high school credits that he is extremely proud of. He enjoys participating in Special Olympics. He swims, bowls and has joined a fitness class. In general, Stephen is a happy, gentle and outgoing young man. He has beaten the many odds and obstacles that PWS has thrown across his path. With the support of a loving family, an understanding school environment and community services, who knows what he may accomplish in his future endeavours. At present, Stephen is looking forward to some independence. We will be making plans for this during the next two to three years as he emerges into adulthood. We hope to find what will most benefit Stephen, so that he will be able to have the fulfilling life that he deserves just like anyone else.
Here is an article written by Stephen's older sister, Tammy:
Reflections of a PWS Sibling
“Every individual human being born on this earth has the capacity to become a unique and special person, unlike any who have ever existed before or will ever exist again.”
- Elisabeth Kübler-Ross
As I look towards the future, I glance back upon the past and ask myself, “What has made me the person and professional that I am today?” Although this question seems daunting, I can recount numerous experiences throughout my life that have influenced the beliefs and shaped the values that I embrace today.
As the oldest of three children in my family, I have naturally always felt a sense of responsibility for my younger brother and sister as most first-born children do. I have strived like many older siblings, to be a role model and teach my younger siblings what I have learned in the process of growing up. As I have matured, I have realised that I have taken on additional responsibilities in my sibling role, as my family is quite unique.
My younger brother, Stephen, was born with Prader-Willi Syndrome (PWS), a genetic condition affecting only one in twelve thousand individuals generally caused by a deletion in Chromosome Fifteen. Those who have PWS have a disturbance of their hypothalamus, an area of the brain, which controls a number of bodily systems, creating varying degrees of learning, developmental, and behavioural challenges for them. However, the greatest challenge that Stephen and others with PWS face, is a persistent sense of hunger and lack of satiation called hyperphagia. Although he has had additional challenges to overcome that have required daily support throughout his life, Stephen has succeeded in becoming a delightful young man who I am proud to call my brother.
As a young child growing up, I was not aware that Stephen was any different than my younger sister Stacey and I. My family has treated all three of us as individuals with our very own “special needs.” My parents were especially instrumental in teaching us about embracing individuality and to value every person for his or her strengths and abilities. They encouraged us to try our best, to express our talents and to pursue our dreams wholeheartedly.
Now that I have matured, I have realized the impact that my brother has had on my life. Stephen has taught me lessons about having patience, being sensitive to others and their needs and taking the time to enjoy life for all that it brings. He has shown me the importance of having a positive attitude, a sense of humour and the value of being myself. I will always be grateful to my brother, Stephen, for the lessons he has taught me. I hope to be able to utilize the personal skills and values that I have learned from him as my professional dreams unfold. |
Christopher at 4 months old
Christopher at 1 year old
 
Christopher in Grade 5 & 6
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Christopher
Christopher was our second child.We knew there was something wrong through the pregnancy. (It was just a feeling). For the first 3 months of his life we were at the doctors office every week. At nine months old I was told by a child specialist that Christopher would never walk or talk he would never do anything. Well, I must say as a parent that just enraged me. I told her she did not know what she was talking about and kicked her out of my house and I never looked back. If only she could see him today. From that point on we know we had a fight on our hands to get any one to listen to us. It took 5 years of fighting to finally have someone push to get an assessment.
Christopher was diagnosed with Prader - Willi, and I must say the first 5 years was a struggle to keep him alive and thriving. Like all Prader - Willi children his baby stages were very delayed but we pushed him to his limits. Only he would be the one to tell me how far he could go. He has taught me about life and love. I have learned so much from this little man as the years have gone by. He has such a strong and tender spirit... People are drawn to him... He can walk into a room and pick up who needs a smile or a tender touch. I have had many women tell me "who needs a man around when you have Christopher". He just knows how to make you feel good about yourself. He is a social butterfly.
He was in grade 6 the first year we moved to London. Which would be the year he started the growth hormones and male testosterone. He has done remarkably well on both. I have been told by the doctors here that they are very impressed with the progress he has made since being on the growth hormones (3 years now). He has grown 13 inches and has kept his weight down. He is now learning how to shave!
He is now in high school.And he keeps telling me he is having such a great year, making new friends and learning new things." I'm doing good Mom, I just know it".
He is in regular classes for gym, religion and computers (with a one on one worker).He is very active in his gym class which I have pushed to have him in year round in school. The boys in his gym class help him to do weight lifting which he seems to enjoy. We do a lot of power walking in the summer months as well.
Christopher loves any kind of sport whether it be watching or participating - bowling, soccer, hockey, to the High School football games...he makes for a great cheer leader!
Just the other day Christopher and I were doing grocery shopping waiting at the check out counter he pucker ups and says, " Mom - a kiss". I said, "Chris 15 year old boys don't kiss their moms like that in public". He says, "Ok a hug then! I told him, "No later". Then he comes out with, " Ok how about a hand shake maybe".
I just burst out laughing. Boy, he knows how to get to you... Brings a smile every time. I think of the little things that he does or says. And for me that's the reason why he is the way he is... its the little things. The smiles and the joy he brings to every one. I don't think I have ever heard "Mom I can't do it" from him. He always says he will try. And for me that's all I need from him is that he will always try in life. Is that not what life is about? Trying, never giving up, never listening to what other people tell you want you can or can't do. He does make a mom feel proud. He has taught me many a life lessons.
Deborah, Christopher 's Mother |
