Bridget has this super cool friend, Charlie. Charlie is awesome. He walks her to class every day. He watches out for her at parties. Charlie is the boy that if Bridget was a typical second-grader I would be joking with his mom that I hope he stays sweet and takes her to prom one day. Continue reading
A parent walks into the store, dragging her child kicking and screaming as other shoppers look on. A sibling walks into the store and says, “next time I will babysit so you can try to get the shopping done”.
A parent answers, “What time is it” for the 500th time with patience that is waning. A sibling tries to redirect the looping by distracting them with Disney Jr.
A parent tells her other child that they cannot attend the school play, because their sibling cannot handle the lights and sounds. A sibling whispers they understand while their heart is breaking. Continue reading
When you get married you promise to be with your spouse from this day forward for the rest of your lives. David and I have come to the realization that since Bridget’s birth she will be with us from that day forward. I know, you always have your children with you. When you have a child with a disability that statement has a different connotation.
The weird part is, when Bridget was smaller and at her most fragile she was actually more portable. As long as she was in a carrier, she was content. Now that she is older, she is less likely to pass as a precocious toddler. Now when I carry her and someone asks her age I receive that look. The look that you are a bad parent babying your first grader. Until you talk with Bridget, unless you know her, you would not immediately know she was not your typical seven year-old. Continue reading
I’m going to feel all lapsed-Catholic guilt for admitting this, but I sometimes despise this life. I hate that I don’t understand my own child. I despair that by my own actions I am the trigger to her crisis. I freaking loathe that this behavior doesn’t happen at school but only at home (see trigger comment). I despise that I cannot calm her, I cannot reason with her, I cannot even give in to her because if I do this will not be a daily occurrence but an hourly one.
For the uninitiated, this is what a meltdown looks like. Continue reading
A personal guest post from my dear friend, Laura. She is a warrior mom to her son, Zachary. Her son is gorgeous. Like a mini-Elvis gorgeous. You know before he got old. Laura is an incredible photographer, gorgeous inside and out. Her smile lights up a room.This is her feelings on autism awareness and why she struggles to define what it means to her.
A day where many Facebook posts are made showing supporters wearing blue shirts, lots of puzzle piece memes floating around, and posts declaring support for family and loved ones affected with autism.
I struggle with this day for so many reasons. Mostly I’m grateful for the support and recognition for my son and his friends who live with autism. But I also try so hard to be a little vulnerable and allow people to see into our world of struggle, meltdowns, heartache, therapy, triumph and successes. But this is where the ‘awareness’ part of ‘autism awareness day’ comes in. I have to be strong and let people see that we do struggle daily with our own ‘norms’ and having the outside world understand what our ‘normal’ looks like. Continue reading
Life sometimes sucks the life right out of you. I was thinking when I first wrote my “14” post that being 14 really wasn’t too great. It was hard, life was not a Hallmark moment. Yet once I really thought about 14, I realized it wasn’t always perfect but it wasn’t always torture. In fact, looking back I would say it was 10% hard and 90% blessed. I just didn’t realize it at the time.
Lizzi from Considerings dedicates each Saturday to concentrate on what made life a little easier this week. Her belief is that concentrating on the good stuff of the previous week starts the coming week off right. So let’s concentrate on that 90% blessed for a moment and throw the 10% to the curb where it belongs.
Today I am thankful for…. Continue reading
April is Autism Awareness Month. Yet I find autism awareness tough to explain. Most people are aware that autism exists. There are very few people who have not heard the term or who haven’t come into contact with someone who knows someone with autism. The problem is in explaining how Bridget and her friend Zach can be the same age, both have autism yet they are as different as the sun and the moon. The sun and the moon are both stars, after all. Yet they present completely differently. Continue reading
Today’s Throw Back Thursday Post is perfectly timed. It was first published last year on April 2nd for Autism Awareness Day and today Bridget is again just one small face of Autism.
Today is Autism Awareness Day. While I may not (yet) be comfortable with Boo having an added diagnosis of Autism, I am getting there. There is no escaping the fact that Boo was tested and she has been diagnosed with Autism Spectrum Disorder. But what does this a child with autism look like?
It depends on the child. When Boo was first diagnosed my friend Julie told me that Autism Speaks has a motto: Meet one child with autism and you have met one child with autism. The children are as unique as a snowflake. Each wondrous and magical and heartbreaking beautiful.
A child with autism is born just as perfect as a child born without. Continue reading
It took having a second child for me to understand that disability did not mean inability. I am guilty, like many others, of seeing the chair before the person in it. I would look at those with a disability and not see the person first.
After my second daughter was born my definition of disability was reborn. This wasn’t a child to be pitied or thought to be unable. This child could accomplish anything she set her mind to, whether it was walking or climbing up the wrong side of the stairs. She would defy doctors and our own expectations too often for us to begin putting limits on her ability. I wanted everyone to see Bridget, not the things that set her apart from her peers.
Today is the very first PACS1 awareness day. A day created by the parents of just 20 children, with the help of fellow bloggers. PACS1 is a rare genetic syndrome. So rare that there are only 20 children in the world that have been diagnosed.
There could be more children. So much more. Sadly there are countless parents out there with children who have unknown syndromes. Unless physicians are aware of the PACS1 malformation they will not know to test for it. Unless parents know that PACS1 exist they will not be able to ask their physician to test for it.
What I am so very thankful for, today, is finding the PACS1 parent community. Together we have discovered that common therapies help our children succeed. We have discussed what has worked, what hasn’t and how our various countries create special education advances. While small, we are making a difference. Not just in our families, but in others.
To be able to send a quick message, and be told YES we have that same issue. To be able to not feel alone.
I know, in truth, our family was never alone. We are so beyond lucky in our village. Those who are there (day/night, text/call, whatever we need). We have been surrounded by support each step of Bridget’s life.
Other are not so lucky. They do not have the resources, or the reach, to know where to look for the answers. To know that no matter what that answer is they have friends and family who will be there.
Here is why PACS1 Awareness is so important. The parents know that there are more families out there searching. When we were diagnosed in October we were told Bridget was just the third child and only girl. Based on the research from 2011 published just 3 years prior to our diagnosis.
In the three years since the original paper was published 17 other children had been diagnosed. (Research papers are not typically updated) If I hadn’t contacted the originators of the paper we might never have found our PACS1 families. We would not have known that while still considered an “orphan disease” (what they call syndromes with less than 200,000 people) we were more than 1 of 3. We are now 1 of 20. Maybe tomorrow we will be 1 of 100. I never give up hope.
Bridget’s doctor didn’t know to test for PACS1 because the research was not widely promoted. If doctors are unaware of a syndrome they cannot test for it, without performing full gene or Exome genetic testing. Without that testing we would not have found the PACS1 gene.
Sadly, most parents do not know to ask for it or how to go about getting the testing done.
If parents do not know about the possibility and if doctors do not know to test for the PACS1 malformation, more children will struggle with being undiagnosed. Undiagnosed is a difficult life for a family. We worry about early death, question what therapies to use and feel isolated.
With more awareness of PACS1 more research may be undertaken so parents will know how best to nurture their children. Please, I ask you…no beg you, share the PACS1 information with others. Join the PACS1 Awareness Day on Facebook (not a fundraiser, I promise!). Invite your friends to join you in spreading the news about this very rare syndrome.
You might just be someone’s Dr. House.
********************
I want to personally thank my blogging friends who are writing about PACS1 today:
Abracabadra
Considerings
Finding Ninee
Mardra Siorka
Transceding CP
Another Clean Slate
Red Boots
Tamara (like) Camera
Anna Fitfunner
Cape Cod Scrapper
Club Scrap
If you would like to add your post please click this link:
For more information on PACS1 please visit our PACS1 Families Site
(Un)Diagnosed and still okay 