Last weekend I had the amazing opportunity to attend the ataxia-telangiectasia (A-T) caregiver conference in Chicago with my good friend and children's speech pathologist, Jen Putnam. As I have 3 children that are battling this disease I was so grateful to be there to learn more and see so many of my friends who fight this same battle. The things that stuck out to me the most from this conference are:
1. A-T kids are just normal inside. What they struggle with is their input and output abilities. They just need a little more time to accomplish what their peers are doing and often need assistance in performing school work or other tasks. The one input that is not affected by A-T is their ability to hear.
2. The mortality age for our A-T kids used to be 18.5, but due to life improving therapies and understanding of the disease the average mortality rate is now 25 years of age.
3. The 3 main reasons that we lose our A-T kids are:
1. Lung problems (due to their compromised immune systems many of our kids face recurring infections which lead to lung damage and can eventually take their life; they also can have struggles with aspiration when eating)
2. Nutrition (due to their swallowing struggles A-T kids often struggle with the ability to swallow or they are using up all of their calories in the eating process; this is where the feeding tubes have been an invaluable blessing in so many of our children)
3. Cancer
4. They are no longer recommending the rubella vaccine for A-T kids as they have found this vaccine in granulomas that were present in these children
5. Back in March our children were diagnosed with “mild” A-T which typically means that A-T will have a more mild course. Mild A-T is rare in the United States, but more common in the UK & Ireland (that was very interesting to learn as Larry and I have a strong heritage from those countries). Mild A-T for our family means that instead of having 2 severed A-T genes, one of the genes is a missence gene and they are likely making some of the ATM protein that most of the kids are missing.
6. Genetic science is moving at an increasing exciting rate and there are some very exciting things in the works.
The most important thing I took away from this weekend is how blessed I am to be surrounded by so many wonderful people in the A-T community. I have a great respect and love for each of you.
