I met Meredith through the magical world of the internet. We have a mutual friend, Melissa Amster, who connected us after one of my first Autism Posts for this blog. She has been a big supporter ever since. Meredith has a sweet daughter who’s the same age as Bear, so we’ve often shared war stories. When she saw my Call for Autism Angels, she took the opportunity to write me about the angels in her life. Her letter is beautiful – and filled with love and gratitude. I love reading about the extraordinary people who make the world of special needs a better place.
When you called for submissions of “Autism Angels,” I’ll admit that this year I felt unusually unprepared. While we are by no means at the end of our autism journey, we are far from the beginning. In the beginning, we needed and received the kindness of SO many angels that I could have rambled on endlessly about them. Images of these folks helping us still flash through my mind. I have to catch my breath when I think back and really absorb the kindness we have received — when I think about all the unsung heroes who go about quietly “doing good” in this world. Continue reading Autism Angel: Guest Post by Meredith Sherr Altschuler
To promote Autism Awareness Month last year, I featured a series of posts about individuals who have helped my son on his autism journey. I wanted to celebrate and thank the angels in our lives whose skill, kindness, dedication, patience, and support have helped get Barrett to where he is today. This year, I thought I would feature guest posts from other writers about their Autism Angels. If you have or know an autism teacher, therapist, parent, or respite provider who has touched your life, or the life of someone you love who lives with autism, I’d love to feature them on my blog during the month of April. The submissions can be in a traditional essay or interview format and contain links. I’d also like to feature pictures. If you’re interested, please email me at email@example.com. I will accept submissions from March 15th to April 15th.
To read about our Autism Angels, please click on the links below:
Bobbi Jo Corcoran:
My family has kind of been wiped out by the flu! It’s been rough. All six of us have been afflicted with the yuck over the last week and a half. I’m still not well, but finally out of bed for a few hours each day (have to be, because my husband is now really, really sick!). Trying to catch up on emails, bills and blogs. It’s endless. But I did want to pop in here with a post that I pledged to write and share on February 7th, for my friend Kerri. Kerri, I’m so sorry I was unable to participate in the very first PACS1 Awareness day. I’m a little late, but I did want to at least let my readers in the blogosphere know about this very rare disease.
Kerri is a blogger at Diagnosed and Still Okay – and her site is the former Undiagnosed but That’s Okay. Kerri is a fellow New Englander and the mother of two sweet little girls. Her youngest, Bridget, was recently diagnosed with PACS1. Bridget is one of only twenty people in the would with this diagnosis! Bridget was undiagnosed for years, but thanks to Kerri’s love and tenacious devotion, she found answers for her little girl. Please visit Kerri’s blog to learn more about Bridget’s story. There’s also a PACGS FaceBook page. And below, in Kerri’s words, is more information about the condition:
The reason Bridget (and others) have a hard time being diagnosed is that physicians are unaware the syndrome exists. What happens when you go to a geneticist is he/she will look at your child, review their history, family history and then test for 3-5 genes that “might” be causing the problem based on those three criteria. Bridget had multiple tests like this. It wasn’t until we took a leap of faith (see below) and went to a private MD where her DNA (called Exome sequencing) was viewed strand by strand (via computer/health stuff that is beyond my understanding). That testing showed that the PACS1 gene was mutated. Once the mutation was found they looked into the orphan disease registry and viola found the 19 other children. This is why it is so important. Most parents are unable to get the Exome sequencing performed. If we had gone through our hospital it would have to be approved by 5 scientific boards and then the insurance company. That would have added years to her journey. BUT if doctors are aware of the syndrome, they will test for PACS1 as part of their array.
The leap of faith/following your instincts/fate. I always knew that Bridget had an unknown syndrome. But I was unwilling to just “wait for science to catch up”. A reader of my blog reached out and gave me the name of the doctor in GA. We thought long and hard, research the doctor, but then took a week off of work and traveled to find an answer. The answer might have been still a genetic abnormality never seen before. Instead we were given hope. So my hope with PACS1 Awareness is that a parent will never be satisfied when a doctor says they don’t know. To keep searching and never giving up on the finding an answer.
Now that’s the love of a Warrior Mom!
Please help us spread the word.
Today I’m being featured at my friend Kristin’s site, Campfire Diaries. Her blog is dedicated to inspiring families to seek adventure. I met Kristin at The Type A Parent blogger conference last fall and she is a sweetheart. Kristin is full of great ideas and a huge supporter of her fellow bloggers. I was honored that she asked me to share one of my road trip stories with her readers. So please join me at Campfire Diaries, where I share my family’s escapades in Sedona, AZ. See you there!