January 2022 updates
We have made a couple of site changes: Our COVID-19 page has moved off the main navigation bar and into the News section in a tab there (directly above this, in fact.)
We updated our logos that we make available for our partners to use to a new design, available over on this page.
And we've posted our 2021 Year in Review document
Once Upon a Gene Podcast - Featuring Angela Lindig
Can you tell me about yourself and your family?
I am the Director of a parent center and my work is in working with children who have disabilities and my own child is what brought me to this work. My daughter Amber is 25 years old and is dealing with an ultra rare genetic condition that was diagnosed when she was 23. I knew something wasn't right when Amber was 4 months old. It was at a class reunion we attended where everyone had babies that I was able to observe. Amber was floppy and had low muscle tone and she wasn't doing things I noticed the other babies doing. We talked to the pediatrician about the delays we saw and at 5 months old, she had an MRI done that didn't reveal anything and we started early intervention services. The testing continued for many years looking for what Amber's condition could be.
If Amber didn't get her diagnosis, what would be different in her health journey?
Her diagnosis is HNRNPH2 disorder, a mutation on that gene on the x chromosome and there are only about 100 identified families affected. We're all learning together and we've identified a lot of characteristics in Amber, like a cortical vision impairment and self-injurious behaviors. The collective knowledge will lead to treatments of symptoms and the whole condition.
Was there grief in getting a new diagnosis?
I had no grief with the new diagnosis. I burst into tears when we got the diagnosis because it was such incredible relief to finally know and have the opportunity to connect with other people.
Can you share about Amber's adult independent living arrangement?
I have a friend who has a daughter that's two years younger than Amber and has angelman syndrome. We talked and then brought our daughters into the conversation and they wanted to live together. We rented a town home to ensure they would be compatible roommates and we arranged a supportive living agency to provide staff. After 9 months when we realized the arrangement was working well, we bought a home the girls live in and we stay very connected every day. Amber is thriving and the support staff keeps her as involved in the community as possible. There may even be opportunities for supportive employment in the future, dependent on her continued developmental growth.
We reorganized, modernized, and cleaned up our IPUL Health section!
Supporting Students with Disabilities during COVID by Beth Markley
When school goes online what happens to students who have special needs that make remote learning especially difficult? How do schools meet their obligation to provide a free and appropriate education under the law when students can't be in the building? How can parents, educators, and administrators work together to ensure no one is left behind?
Our guest this week is Angela Lindig, executive director of Idaho Parents Unlimited that assists families of children with disabilities and special health care needs.
Click the image above or this link to listen to the interview.