Life in progress

Tag Archives: Noonan Syndrome


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Deaf vs deaf – #AtoZ Challenge

My A to Z theme concerns the joys and challenges of being the hearing mother of my Deaf son, Alex.

By now, if you’ve been following my A to Z posts, you might have noticed that sometimes I capitalize the word, “deaf,” and sometimes I don’t. It’s not as random as it might at first seem.

Being “deaf” with a small “d” refers to a physical condition. People who go deaf as they age will probably always be “deaf” as opposed to “Deaf.” “Deaf” with a capital “D” refers to someone who is part of the Deaf community. Those born into families who are already part of the community are considered “Deaf” from birth. Think of it like being born English, or African, and you’ll get the picture. Alex was born (or became shortly after birth) deaf. It wasn’t until he learned American Sign Language as his first language that he could be considered Deaf.

As his mother, again I was faced with a huge decision in regards to his deafness. He had an MRI to assess the extent and cause of his hearing loss, and it was determined that he would qualify for a cochlear implant*, which would allow him to hear, somewhat. It wouldn’t have cost me anything – he was deaf enough. I hadn’t realized that there was a chance I would have to pay for it. But that wasn’t my main concern anyway.

By the time he had his MRI, I had started taking formal American Sign Language classes at the Canadian Hearing Society in Ottawa, and he’d already started learning ASL. The Deaf community is tight-knit, with a culture that is unique to them. They tend to protect their culture with a fierceness that equals that of any other culture worldwide, and with reason. It is often misunderstood, as are the Deaf. I’ll get into that discussion on another day, however. My own focus was, of course, on my son, and I needed to decide whether or not he would be Deaf, or remain deaf.

It may seem like an obvious decision at first. I could have had my little hard-of-hearing child to myself, with his cochlear implant, and his tiny fingers that we still weren’t sure would ever be able to sign properly because of his low muscle tone. This last was related to both his Noonan Syndrome and the fact that he had spent eight months in a hospital bed instead of learning to play. Excellent reasoning to have a hearing child.

However, he’d been tube-fed from birth (and still is). On the surface this was completely unrelated, until an occupational therapist explained to me that, because he never learned to suck as an infant, the muscles in his mouth hadn’t developed properly. He would never learn to speak. His dad and I were still undecided when we went to see the surgeon who would perform the operation for the cochlear implant. We felt that it was important to know all the details involved in the procedure, so we could make an informed decision. The moment I heard the words, “five-hour operation,” and “drill a hole in his skull,” I threw up my hands and accepted that I would have a Deaf son. He’d been through enough.

To learn more about Alex’s beginnings in life, click here to go to my letter “A” post.

To learn more about cochlear implants, click here.


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All About Alex – #AtoZ Challenge

I knew Alex was going to have health issues when I had my first ultrasound, 10 weeks into gestation. He had, I was told, fluid around his heart and at the back of his neck. Down Syndrome was ruled out a few weeks later via amniocentesis. It wasn’t until he was born and transferred to the nearby Children’s Hospital of Eastern Ontario that he was diagnosed with the second most prevalent syndrome: Noonan Syndrome. To the geneticist it was obvious at first glance. Barrel-chested; low-set ears; thickness in the neck; and widely spaced, bright blue eyes. It was all there, on top of the multiple heart issues.

His prognosis was bad. Without surgery, his cardiologist told us his heart could no longer pump oxygen through his bloodstream. He would die within a year. The surgery itself came with  a 50/50 chance of survival. It was a tough decision, yet an obvious choice. Just short of two months of age, he went to the operating room. About half-way through the procedure, the surgeon came in to let us know that Alex’s heart had stopped and he had lost all vital signs. They got him back after a few minutes by providing open-heart massage, but the surgeon said he would not resuscitate him again. It was time to close the suture and hope for the best. A couple of hours later we were told our little boy had survived.

The reason I go through this history when I’m here to talk about his deafness is, first, to explain why I reacted the way I did when I found out he couldn’t hear, and second, why he can’t hear. He was about four months old when I began to realize he wasn’t responding to noises. Since he was still in the hospital (he didn’t come home until he was eight months old), I had him tested right away. When the test proved he was profoundly deaf, I felt sad that he couldn’t hear me sing to him, and that he would never be quite like the rest of us, but hey – he was alive. Years later, I’m still realizing the impact of his difference in abilities, as you’ll see as the month goes on. Noonan Syndrome doesn’t include deafness as one of its genetic anomalies. The doctors told me it was likely the lapse in vital signs during the surgery which injured his brain. I had to wait to find out if he would have any other symptoms – as it turns out, I’ll probably never know.

It’s been a roller coaster of ups and downs, with oh so many laughs and challenges and opportunities to learn along the way. I hope you’ll enjoy reading about the ride.

https://youtu.be/g0C32VhCxBo

Just before Alex finally came home (if I remember correctly, the weekend of the CHEO telethon in 2001 was his last weekend at the hospital) they filmed some of the inpatients to show at the end of the news. The baby at the end (2:24) is Alex.


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The MMR Vaccination Debate – a Parental Perspective

As the mother of an Autistic child, I can’t help but put my two cents worth in on the recent uprising of controversy surrounding the outbreak of measles and the risk of administering the measles, mumps and rubella vaccination. I do believe I have a rather uncommon perspective on the matter. Unique? Maybe not. Nevertheless, here it is.

When my first son (who is completely “normal”) was one year old we went in for his MMR shot and the doctor suggested that I be immunized at the same time. Much to my regret, I did; I found out a few weeks later that I had been two weeks pregnant with my second son when I had the shot. When my second, Chris, was born everything seemed fine. He was developing according to his milestones and even beyond them. He spoke a few words and played normally. Then, at one year of age he had his MMR. He didn’t speak another word until he was four and a half. He was diagnosed at the age of four with Autism.

It wasn’t until after his diagnosis that I heard about the correlation between the MMR vaccine and Autism; for me it all fell into place. What else could it be? I had one perfectly healthy child and another who wasn’t and there are cognizance issues in the history of neither mine nor their father’s families. Then a study was done. It was “proven” that there is no medical evidence that the MMR shot has caused Autism in anyone. I remain skeptical to this day.

BUT.

When Chris was five years old I had another child with a host of different problems. Alex was born with Noonan Syndrome. In the 1960’s Dr. Jacqueline Noonan discovered a set of characteristics when, put together, proved to be a congenital disorder. My baby’s most life-threatening symptoms were those of his heart: an atrial septal defect, hypertrophic cardiomyopathy, and the pulmonary stenosis that was bound to end his life within a year if we didn’t have it corrected with open heart surgery. We were told he had a 50/50 chance of surviving the operation. We went through with it when he was a mere two months old, and yes, it nearly killed him. When the surgeon came into the room and told us that he had just resuscitated our son with open-heart massage and that if his heart stopped again they’d just let him go peacefully we were both frightened and devastated.

Here is what gives me my uncommon perspective on the MMR controversy. I had Alex immunized when he was a year old. Measles, mumps and rubella are all life-threatening illnesses. Having the choice between a healthy Autistic child (which I have) and a dead child (which I almost had) there was no contemplation on my part, even given the suspicion I have that the MMR shots both I had whilst pregnant, and Chris had at the age of one, caused his Autism.

Alex was rendered Deaf during the course of his surgery due to a prolonged period without oxygen. He is not Autistic. I wouldn’t hesitate to have him vaccinated again if it was called for.


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Precious Body – Stream of Consciousness Saturday (Body)

“Is he always this happy?”

It’s the question I am most asked about my thirteen year old son. At 60 pounds and 4’3″, with the amount of enthusiasm he has for everything, he can easily pass for an eight year old.

Born Deaf, his lungs are compressed by his large, deformed heart. He’s barrel-chested and is covered in scars, least of which is the tube in his stomach from whence he receives 99% of his nutrition. He is hooked up to a feeding machine about five hours a day. I’m sure he experiences pain – more than likely he’s been through more than most of us in his short life.

But I marvel at his little body. That he keeps going without complaint – he’s never known any different. I’m sure he’s realized by now that he’s not the same as most kids. One of his major goals in life is to eat in the cafeteria with the other kids at school, instead of being sent to the infirmary for lunch every day.

It amazes me what the human body can endure and still keep going. We think of ourselves as fragile. We grieve when something stops working. Our eyesight fades, our hearing goes, our muscles tire more easily – but imagine if you had always been this way.

My son is a constant inspiration to me. Everywhere he goes he makes people smile with his joy in life.

The answer to the question: “Yes.”

 

This post is part of SoCS: https://lindaghill.wordpress.com/2014/07/04/the-friday-reminder-and-prompt-for-socs-july-514/  Click the link to read the rules and join in!