Amy Clugston she is the President and Founder of SWAN U.S.A. Lorna, her daughter, is just one of many reasons Amy started a foundation for others just like Lorna. SWAN USA’s website is www.swanusa.org – Facebook and DYRK1A website is www.dyrk1a.org – Facebook. These groups were part of the Michigan Rare Disease Day 2016 (Rare Disease Council).
Here are just some interesting thing Amy shared with me.
My Rare Journey began 19 years ago.
- When my daughter Lorna was born with multiple congenital anomalies.
- From our very first genetic appointment when she was 4 months old we knew she had some type of syndrome.
- At the time there was no organization or support system for families in my situation
- So after 4 years of hearing from 12 different types of specialist and 4 different genetics
- the test is negative
- she is very unique
- We can’t figure her out.
- I started Syndromes Without A Name in the US
Lorna’s Diagnosis remained undiagnoseable for 18 years.
- There are many things that prevent rare disease from being diagnosed
- Some of which are;
- Due to the rarity physicians haven’t seen similar cases
- Medical science and knowledge hasn’t advanced enough
- Genetic testing isn’t covered under insurance and not affordable for many families
- Families aren’t considered partners in care & research they participate in
- There aren’t many Diagnostic teams and some of the ones available aren’t not affordable
All of these factors played a role in her long diagnostic odyssey
- I was determined to be a partner in her care and research
- So I became knowledgeable about all her signs & symptoms which is known as her phenotype
- I became aware of the first diagnostic team that wouldn’t cause me to go into great debt,
- We attended the Undiagnosed Diseases Program in 2009.
- With advances in genetic technology
- They did Exome Sequencing, which was all research based at the time
- Having experienced research genetic testing many times
- I knew we may never learn the results of the test.
However in 2014 I came across an excel document from the Undiagnosed Diseases Program,
- The document was shared publicly and was intended for interested researchers
- to apply to do gene function study’s on specific genes related to patients that had been through the program
- in hopes of determining whether the changes in those genes were causing the condition.
- This document didn’t list names of patients rather it listed phenotypes and the genes they wanted to further study.
- Since I had studied Lorna’s Phenotype for nearly 18 years
- I could easily pick it out as I seen it in the document.
- I then found one article about 2 patients with translocation affected the gene
- I was pretty certain then that this was the answers we had been waiting for.
In the same stretch of time,
- While attending the ACMG last year as a consumer advocate
- I walked through the poster presentation and saw a poster about the gene
- I saw what I had never seen before
- A description matching my daughter’s unknown syndrome almost to a T.
- Several months later and many emails and phone calls we were able to confirm the diagnosis.
She has a duplication of a letter G in her DYRK1A Gene.
- It is newly understood and may be later coined as DYRK1A Syndrome
- Currently there are about 60 diagnosed across the world and I have connected with 38 families so far
- We will be having our first family gathering this summer.
I would really like to see a rare Disease Council in Michigan. So that we can have conversations about how we can make changes to our current system that affect a diagnosis from happening in a timely manner for Michigan families.