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The Science Behind Autism and My Story

As many of you may or may not know, my son is autistic.  A warning that this post is personal.  I don’t often open up in my posts on personal matters but in the interests of understanding Autism and what parents often go through, I felt I needed to tell my story as well.

During my wife’s pregnancy, I got my wife involved in a midwife program to follow my wife’s pregnancy and sons development once he was born since this would be our first child.  The pregnancy was a healthy one, my wife however had a hard go of it during labor, and ended up with toxemia, and had to have an emergency c-section.  After my son was born, we had concerns at 10 months that he wasn’t sitting up by himself properly, and missing several of his development markers. Fortunately our midwife was also a registered nurse, and set up an appointment with Dr. Zwaigenbaum (who happens to be one of Canada’s leading researchers in Autism and was based out of Hamilton at the time).

Within a few months of the appointment being made, we got a call due to a cancellation and were able to meet with Dr. Zwaigenbaum who suggested my son go through a test for Fragile X syndrome, which is one of the leading causes of autism in males.  We had the test done, and my son was diagnosed with Fragile X syndrome by the time he was about 1 1/2.

What is Fragile X syndrome?  It’s a genetic mutation of the FRM1 gene in the X chromosome passed on from mother to son.  The FRM1 gene in a normal DNA sequence, copies between 25-30 times from the mother, in my sons case the gene was copied over 2500 times.   Girls with fragile X are impacted differently because girls have two X chromosomes so if one is impacted with Fragile X, the other X chromosome sort of compensates for it.  In the case of my wife, she has been diagnosed with Fragile X Syndrome as well, after a blood test after my son was diagnosed.  Boys on the other hand have only one X chromosome and the other is a Y chromosome, so boys are often impacted more severely with an X chromosome gene mutation.  My son who is 9 is non-verbal, and incontinent. While not as severe as my sons, my wife has been impacted as well through her day to day activities, and has struggled in life and through her academics.  I’ve had to put a lot of things on hold to assist my wife and son at home.

The mutation in the FRM1 gene that causes Fragile X syndrome inhibits a certain enzyme in the brain responsible for normal connotative and physical function.  Lab tests have been preformed on mice with Fragile X syndrome in which the missing enzyme was given in supplements, in turn reversing the effects of Fragile X syndrome with a remarkable 80% reversal rate.  Human trials started a few years ago, or are in the process of getting approval.  We are hopeful, that in the future enzyme therapy will be an option for my son.

One of the main pet peeve’s I have is what I like to refer to as the “Jenny Mccarthy Syndrome” where vaccines are to blame for Autism, and children should be put at risk of death from preventable diseases. The paper that suggested vaccines were causing Autism, was withdrawn and debunked by many scientists and health organizations, and the doctor who wrote that paper Mccarthy and others consistently quote, is no longer practicing medicine.  The vaccine myth is further discussed in the below embedded video. There’s also NO cure for Autism.  I recently came across a TED talk that I found very informative regarding Autism Spectrum Disorder (ASD), and where we are in the understanding scientifically of ASD:

As a parent, it hasn’t been an easy ride to say the least.  There is a very steep learning curb when you first get the diagnosis of any disorder let alone Fragile X and Autism which have several subcategories of behavioral diagnoses. The system we have set in place requires parents to fight at every step from funding to getting specialists involved both at the home and school board level.  On top of having to fight, the system set up is extremely complex and confusing often requiring a case manager to help navigate, which is yet another fight to get a case manager involved (this is why I’m such a feisty advocate).

On top of all these fights parents have to go through to get specialists involved at the home and in school, once they are involved, yet another steep learning curb, since the parents are responsible for becoming the specialist and learning therapeutic techniques of the specialist to administer them at home.  Than there’s the application of those techniques which requires a lot of patients and time, and are not always successful. Myself being the only one in the family to be able learn and apply therapy, it does at times become overwhelming.  This is when respite is a huge help, which is yet another fight to get funding let alone find a respite worker that’s a good match.

Another thing most parents have to deal with when you have a child with challenges are friends and family.  We’ve had to go through a situation where family and friends don’t know how to offer their support.  Good friends and close family often start to become distant.  This was something as a parent I didn’t understand at first.  As a parent, you essentially become the expert on your child’s diagnosis, and are often around people in a support network who understand those challenges, and behaviors.

To the outside often these challenges can present themselves differently to people who don’t fully understand.  Family often becomes hesitant to offer a helping hand to help care or provide a night out at grandma’s or grandpa’s due to the fact they don’t know how to deal with those challenges or behaviors, or are physically incapable of dealing with them.  It’s not to say that our family hasn’t been supportive, they have been very supportive, just in a different way than had we had a child without ASD. I’ve had to come to terms with that, and understand it now. Friends often vacate and become distant often for the same reasons.  Going through this realization can be and is a very lonely time, very difficult time, and also very common I found out from other parents with challenged kids.

We’ve kept a very close yet very limited circle of friends, in which understand our situation. They have been there in times of difficulty and have gone above and beyond for us also in times of crisis. We’re extremely blessed to have that support available and be in company of good honest and caring people and can’t thank them enough.

Out of all the difficult, frustrating, lonely and overwhelming times comes something that makes it all worth it.  Hugs, laughter, unconditional love and small successes that turn into leaps and bounds.  My son has become my strength, changed me as an individual, and has become my best friend.  He knows when I’m overwhelmed, and will often break out a smile or joke around to make me laugh, especially at the simple things in life, which puts everything into perspective.  He’s grown leaps and bounds over the past few years, because of all the fights I’ve had to deal with and won in the system to make things right for him. This is a story I hear very often with other parents affected by ASD, and a lesson to others to never give up the fight, because your kids are worth fighting for, and you are their voice.

Parents should not be dealing with stresses from a busted and unaccountable system of administrating support, along with the stresses they are dealing with in the care for their kids, especially with ASD on the rise.  Too often than not, those in the system administering services make it very difficult intentionally for people who already have it difficult at home.  The emotional and physical toll felt by the amount of advocacy required by parents to get the support they need in the public health system is overwhelming.  We need a comprehensive analytical look at the support system in place now, with a commitment from both the Federal and Provincial governments from across the country to come up with workable streamlined and accountable solutions across Canada for ASD support inside the classroom, and at home.

There will be more posts like this that will be coming in the near future, as I offer some insight into some policy, and political failures in the system that need to be corrected and are causing undue stress on families affected with ASD, in hopes that it reaches advocates, politicians and sparks discussion on how we can look at meaningful change across the board. I’m one of many voices, and my voice needs to be added to the conversation considering the injustices I’ve witnessed in the system and have had to advocate against.

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