Rare Disease Day 2019 - raising awareness and aiding connections


Sometimes I fear the media attention of direct-to-consumer test in recent years comes at the expense of the most vulnerable in society: children and adults living with rare disease.

These individuals and their families must continually fight for recognition of their needs, for their rights to access and secure financial coverage for testing and medical treatments. Few people other than those who have been through a challenge navigating the medical system with a special needs family member recognize that the journey is tough and long.

For these people, DNA testing isn’t just for curiosity’s sake. It’s not done because it’s fun or interesting to them. It can be a quality of life or a life or death matter.

Today I recognize these individuals on Rare Disease Day 2019.

Individually, rare disease is uncommon, but collectively, they affect many.

It is estimated that somewhere between 25-30 million Americans live with a rare disease.

The medical genetics community works with these rare disease families, some of whom have identified a genetic cause. Other families are on a diagnostic odyssey for years, in search of a reason their loved one struggles with health concerns or developmental issues.

Pediatric genetic counselors specialize in working with families who have a child struggling with major medical or developmental challenges without a known cause.

Prenatal genetic counselors meet with couples who have one child with medical issues who are wanting to know ‘will this happen again if we have a second child?’

Genetic counselors who specialize in areas such as cancer or neurology work with rare families who have a less common or perhaps a yet-to-be-discovered gene involved in their diagnosis.

Other vital genetics professionals include medical geneticists (genetics-trained MDs) and clinical laboratory geneticists, who are often behind the scenes, making the discoveries and taking care of rare disease families over years and decades.

On rare disease day, we remember those whose stories don’t splash across the front page news.

The parents who lost multiple children to conditions like Tay-Sachs disease before we knew the gene and had testing…

To the children who face life-limiting struggles…

To the adults who have suffered and search for many years in search of a medical explanation…

To the genetic counselors, geneticists, and lab scientists who work to make lives better…

This Rare Disease Day is yours to be recognized.

  • If you are struggling to find a diagnosis whether genetic or not,

  • If you’ve been found to have a genetic variant in a gene about which little is known, or

  • If you’re a researcher with an interest in studying an understudied gene or rare disease (rather well-known ones), here are sites you should know about and ways you can search each other out to connect:

On Facebook - search for any existing groups by gene name

On Twitter - make an account that has your gene’s name in the Twitter handle, create posts using #genename, set notifications so you are notified when someone tags you

Visit www.showmeyourgenes.org

Visit genomeconnect.org and and mygene2.com — join these registries if you’ve had genetic testing and have a copy of your result. These projects are helping researchers, partner laboratories, clinicians, and people who have rare genetic findings to identify and connect with one another.

Know of more helpful resources for rare disease families and the professionals who work with them? Please mention and describe them in the comments box below!