Interview with an AGS patient

AGS Conference Washington DC - Jonah Interviewed by Adeline Vanderver, MD

https://stream.manchester.ac.uk/Play.aspx?VideoId=12566

little by little

Quinn has been making very small improvements. She is just starting to be able to shake a rattle. For a normal baby this is normal but for Quinn this has been a huge step.

Our Little Zebra

 

OUR LITTLE ZEBRA

In medicine there is a saying " When you hear hoof beats think horses not zebras." This is to explain that common things happen often and rare things are not as likely - it's more likely you have a cold than cancer. We see a lot more horses than zebras here in the states.

We have been going to several different specialists. Quinn has been poked, x-rayed and studied.

Our little Quinn is a zebra. She is rare and special.

 

It has taken a long time to find the cause of her symptoms, but wee recently got a diagnosis a few weeks ago. She has a condition called Aicardi-Goutieres Syndrome.  The prevolence is reported to be <1/million. This genetic disease is caused by mutations. Quinn has 2 different mutations in the TREX1 gene. She got one mutation from each of us.

This condition is characterized by microcephaly (slow growing head), feeding difficulties, seizures, and jitteriness. Quinn's has all of these symptoms. Her prognosis is unknown - 25% don't make it to one year of age, but we are pretty sure she'll be here long after she's a year old. There are a few children who grow up to be 30 years old. There are many possibilities. We need to work really hard to help Quinn to develop and grow the best we can. She has a lot of hard work ahead of her, but she's a tough kid and has already done a lot better than many children with this condition.

We think she'll be writing her own story.

More info:

Aicardi-Goutieres.com

The International Aicardi-Goutières Syndrome Association (IAGSA)

Nuclease Immune Mediated Brain & Lupus-like conditions

Diner at the "Crabpot" after our last appointment at Seattle Children's Hospital.