Preventing Autism 103: CHRNA7 and more questions

 "Your son is positive for a CHRNA7 duplication," the geneticist said.

Blank stare.

" He has a duplication."

Blank stare.

"OK" I finally mumbled. " What does that mean exactly?".

He didn't know. Of course, he didn't know. No one seems to know shit nowadays. "Well, children with a duplication often have hypotonia, developmental delay and one day in the future- say 15 to 20 years down the line- he might develop psychiatric problems such as depression, schizophrenia or ADHD. There is nothing you can do that you are not already doing. Keep him in therapy, and we will just have to wait and see."

Blank stare.

"Do you have any questions I can answer?" he said as he hands me a Google search printout with some of the same crap he just said. "Is there a study he can join? are you sure there is nothing else I can do?". "No," he said " This is extremely rare, and there is not enough data out there now. In the future they might even just call it "CHRNA7 Duplication Disorder," but for now we don't have any more information".

Lovely.  And so my month of May began. Not a tear was shed while there. I remained stone-faced and incredulous to anything this man was saying to me. I got in my car and drove home. It was a long drive. The last three years of my life replayed in my head. The last ten years of my replayed in my head. They have been mostly full of tears, fears, diagnosis, research, doctors, diets, supplements, battles, more tears, and more of the same with Quinn's brother Kai. 

I was numb. I got home, and there were some flowers on the table from my best friend with a beautiful support card. She knew I was coming home after an appointment that might turn out to be difficult. I stood there and looked at those beautiful sunflowers, and I started to sob. Frantically. Finally.

Three years with Quinn in diagnosis limbo in addition to the seven I have already spent in Autism hell with Kai. Neurologists and developmental pediatricians saying "this is not autism mom, relax." He's very social, he listens, he points, he seems to understand, and he is affectionate. This new information was finally a clue. A real clue. One with no answers but a step in the right direction. The test that discovered Quinn's duplication was one that was done at birth. The technology was now better three years later, so it caught it. This is what we now know. Quinn has hypotonia, a developmental delay, an MTHFR mutation (described in an older post) and a CHRNA7 duplication. All of that adds up to just one big ole question mark because no one knows what it means exactly. Sigh. Could it be that this is a marker for autism? The genetic predisposition we all speak of? Maybe Quinn was headed towards developing autism, and because of all of the interventions we put in place since birth (diet, supplements, minimal environmental insults and a green initiative at home), it stopped short of it?  

All I know is that I am waiting to exhale. This last piece of information leaves more questions than answers. An uncertain future yet again. Kai and Quinn have each other but what happens when we are not here? We don't have any family that can/would take over. That is the hardest pill to swallow. It's the one that keeps me holding my breath on a daily basis waiting to see what happens next. The one that makes me want to just cry all day, every day. But of course, I am not allowed to do that because then I am of no use to my boys. I choose to try to be happy despite it all. I choose to exhale a little bit. I smile and pretend I am OK which sometimes works. I choose to take time away here and there with friends to clear my head from our daily struggles and then jump right back into the race. It's really just going through the motions, putting on a temporary band-aid, only to rip it off and do it all over again. It does help that his smile just melts my heart. No matter what, he smiles.

 All Quinn knows is that he wakes up, happy as can be, and goes to meet his "friends." These friends are all therapists he sees on a daily basis and not little kids like him. He is in a preschool enrichment program 3x a week for a total of 9 hours. He does 1 1/2 hours of physical therapy a week, 4 hours of ABA (verbal behavior), and a 1/2 hour of occupational therapy. That's 15 hours of work that he puts in. Hard work at that. He's three years old. He just started walking, and he's the most determined little boy I have ever met.  I want so badly to give him a typical childhood void of those 15 hours of "work." He has no clue this is not how his life is supposed to be.

I am in a race running in a constant loop. I am out of breath, and I still can't see the finish line. I have no choice than to keep running.The craziest part is that this is all far from over. As of now, there is no new information out there. I have started to contact a specialist from another state that focuses on duplications and deletions. I have also started a parent group in the hopes of bringing together parents that might be in the same limbo like me. One day at a time right?

Light it up BLACK

It is exasperating to know that in just a week or so the media will start spinning and spouting endless tales about AUTISM. Talk shows, the news, and social media will be fired up showing mostly "junk" reporting. Reports that have been passed down but not thoroughly researched. Blaming everything but the environment, pesticides and all the contaminated crappy food we eat. Shows and reports on little Amanda who has autism, but gosh have you seen how pretty she paints? Or Bobby who is just so bright, but who cares if he's 24 and has never told his mother he loves her because, oh yeah, he can't.

I should be happy about it, right? After all, it's awareness for our kids. The truth is, I am sick and tired of awareness. I want action. I want meaningful research. I want the truth to be reported. It's not too much to ask. With the number of kids receiving a diagnosis on a daily basis surpassing that of pediatric cancer, aids, and diabetes alone you would think the urgency would be palpable. It's not.

Autism Speaks (in yet another useless move that leads us nowhere) asking everyone to LIGHT IT UP BLUE to CELEBRATE simply makes my blood boil. These structures will be participating:  

CN Tower Toronto CA
Bahrain World Trade Center, Manama,
Al Faisaliyah Center, Riyadh, Saudi Arabia,
Cairo Tower, Cairo, Egypt
Palacio de Bellas Artes, Mexico City
Big Brothers Big Sisters Building Grand Center, St
Paris Stock Exchange, France.
Al Anoud Tower , Riyadh, Saudi Arabia
Terminal Tower, Cleveland OH
Kingdom Tower, Riyadh, Saudi Arabia
Empire State Building, NY
Christ the Redeemer, Brazil
Great Buddha at Hyogo, Kobe, Japan
Rockefeller Center and Top of the Rock Observation Deck™, NY
Sydney Opera House, Australia
Niagara Falls, Ontario, Canada
Canton Tower, Guangzhou, China
Kobe Port Tower, Japan
Hungarian Parliament Building, Budapest, Hungary
New York Stock Exchange, NY

Now imagine for a second that all of the money it took to coordinate this and all of the money it will take to get these structures to light up and stay lit was instead put towards meaningful research or to pay kids therapy and treatment. Now THAT is something to talk about. 

It is absurd that the only thing Autism Speaks can latch on to is "awareness." It's one of the very few things they successfully promote. How is a company so powerful dropping the ball with all the millions they have to work with? We are aware. What happens now? Annoyed by the parents complaining about research? 
Then do some meaningful ones and shut us up. 

I want to make it clear that I do not resent those thousands of parents and even local parents and friends who dedicate their time to AS. I get it. I know many of you. You are trying to do something meaningful. You feel at a loss with autism and feel this is the best way to give it all you have and make a difference. I was there. Gasp! Yes, even I participated and once upon a time even raised money for AS. Luckily I was enlightened as to how little of our money ends up where it's supposed to. I am sick to my stomach that I ever did.

There was a study done that showed that "Mothers of Children with Autism have higher parental stress, psychological distress." It was CO-AUTHORED by Geraldine Dawson who is now the chief science officer of Autism Speaks. Well, no shit. Yes, I am stressed damn it! You are spending our money to prove something we already know? Lighting it up blue amongst campaigns showing children with autism who are happy and smiling will not do anything. How about putting the photo of a 15-year-old in diapers? That's realistic. Or perhaps showing that kid who is a math genius but can't feed himself, comb his hair or even wipe his behind. Lovely isn't it? Let's have them be the poster kids. Let's show the number of kids who were abused this year by teachers because they can't defend themselves. Let's add the stories of restraint and seclusion. Spare me the bullshit and get real.

No, I will not light it up blue. I will light it up BLACK. I will be mourning the precious lives of the children who passed away due to wandering. I will be mourning the precious babies that regressed into autism, but that were born perfectly normal (like my son). I will keep screaming at the top of my lungs that enough is not being done to fight this. 

I want Autism Speaks to stop hiring or consulting with Big Pharma ties as part of their routine. I want AS to put funding towards immunology, toxicology, gastrointestinal, and regression.

On my part, I will talk to as many parents as I can reach. I will tell my story until I am "blue" in the face. I speak to parents about nutrition, therapies, doctors based on all of my experiences in the hopes that other children can perhaps either escape autism or get a huge head start once diagnosed.

For those that have asked about REAL ways to support our fight against autism, my suggestions are as follow:

To donate:

Puzzle Peace Now 

Angels Reach Foundation

D Amor Foundation

National Autism Association

Generation Rescue

TACA

Age of Autism

You can also call up a school or therapy center in your area and ask how you can help. It can be as easy as paper towels or perhaps crayons! Maybe you can donate towards something bigger, but at least you know your money is going straight to the source: our kids!

I am hopeful Autism Speaks changes one day and goes back to its roots and original goals: an organization that was founded by the Wrights for their grandchild. Until then friends, speak up for yourselves!

The Sisterhood of Autism Yoda Moms

A friend who recently came into my life now calls me her "Yoda." I always laugh. For one, she reminds me of myself at her age. No, she looks nothing like me. I wish! She's super hot!  She's more or less the age I was when Kai was diagnosed. She has spunk, energy, and a contagious laugh. Unlike other moms I have met through the years, she takes everything I suggest or mention and almost instantly, analyzes and applies it. She's hungry for knowledge, for action, and she asks a million questions. I should write a book, she says, because "all the information I give her is worth a fortune." I am not sure about that. I am not some crazy mom preaching in every corner. I am just a mom who has gone through a lot of hell through this autism journey. Because of it, I get a lot of questions. Often. Everywhere I go. On Facebook. At the mall. Via text. On the phone. On Twitter. In person. At the supermarket. Other moms refer me to other moms so that we can offer support and share stories. Autism moms have an undeclared sisterhood. Unfortunately, others have paved the way for me and all those new to this life. Even women who are pregnant, with newborns or with kids showing a delay are reaching out to autism moms for advice on how to prevent autism or at the very least, get our opinion on the topic. If only mainstream medicine and organizations with funds for significant studies would reach out as well, we might be on to something now in this autism maze, but I digress.

I met Erika while participating in a mom's group where Quinn attends an extensive mommy and me type program. I find myself sharing and reminiscing a lot with her and the other moms there. Every time they mention something they have a question about ( "vaccines" " diet" "therapy" "depression" " stress"" IEP" "education") it triggers a memory of all I went through when Kai was little, and I can't help but share. Since Kai is now nine and Quinn is only two (and the age of all the kids at the group), it's been quite a while since I was in "that" starting place they are all in now. I guess I just took all of the knowledge I picked up when dealing with Kai 7 years ago for granted. The second I saw Quinn started with a delay, it was on! I instantly knew how to deal with it without the need for a "Yoda" the second time around. 

All of this got me thinking about who my "Yodas" were back then. It was all so hard to navigate. I don't know if I applied everything as quick as my friend has. Perhaps because a lot of it was "new" back then and has become a little more accepted now. I soaked everything in, but sat on the information until I was ready. It's my methodical nature. There was the teacher who gave me a book on autism to read as a "hint" to get him evaluated, the other one who constantly lectured me on "diet" (which I ignored  only to try it years later), the endless Yahoo Groups on Autism where I learned what other parents like me were doing, the book DYLAN'S STORY by Cristin Fergus which kicked me into further action by removing harmful toxic products we were using in our everyday lives, the therapists who insisted and tried different tactics to get him to master tasks, and the teachers who successfully went out of their ways to reach him. Those were some of my Yodas.

It also got me thinking about just how much Kai has overcome since 2004. The work is not done. He still has a lot to learn and conquer, but so much work has already gone into his recovery attempt. Perhaps recovery is not likely (and we know that), but we still try it all to make his life better each day and for his future. I have noticed that the older Kai gets, the sisterhood and finding said Yodas is a little more difficult and sparse. Said sisterhood is now more settled and even more divided. Some kids have moved on and lost the diagnosis. Some of us are still treading water with only brief moments of rest. Some have lost hope and given up altogether. Some don't want to speak to others unless they are following the same treatment avenues or non-treatment avenues they are. Some are overly critical of what other moms choose to try for their kids. I just think it's important to remember that we were all where my new friend is today; in that starting point looking for direction. It's important to be ambassadors to other moms and offer guidance when asked. I am lucky to have a close-knit group of friends that I can still talk to about Kai because they have gone through it with me and are in my same shoes (unfortunately). My best friend also happens to have a child on the spectrum making it easy for me to have my very own go-to, on-demand Yoda. But even being in the same boat, I have also experienced icy receptions from moms of older autism kids for no good reason. Go figure! Bottom line? It's harder to find those Yoda moms the more time goes by. 

 











I  am so happy I get to share all my tips and experiences with my new friend and the other moms I encounter. 

Yoda or not, truth is, I like to help. All of the experiences I went through make me who I am today. Maybe some things did not work for us, but it will for them. I am always careful to point out that what I share is just MY experience and not gospel. 

It's a club no one wants to be a part of, really, but once here we are all in it together.

KAI TODAY...still working hard