Friends of Gabrielle

Gabrielle is seven years old and has Dyskeratosis Congenita, a life limiting telomere biology disorder.

She was diagnosed at the age of four, and had a bone marrow transplant at age five.

Her symptoms continue to present and worsen.

There is currently no known cure for Dyskeratosis Congenita (DC).

It is estimated to occur in one in one million people and is a genetic disorder. DC can affect virtually any organ in the body, most commonly: skin, nails, bone marrow, lungs, gastrointestinal tract, liver and bones.

Gabby is also more at risk of developing certain types of cancer.

We are fundraising to help get our family to USA in September 2018 to attend the bi-annual Dyskeratosis Congenita Family Education and Medical Summit at Camp Sunshine, Maine, USA. We have just found out that Gabby is also going to be included in a research study in Boston, for appointments and medical evaluations.

We were fortunate enough to attend in 2016 where we met other children (and some adults) with the disease.

A huge part of the summit is to meet with the experts, one on one, and attend medical information sessions over four days.

It was an incredible experience for our family and we were able to bring back valuable medical information, and advice on treatment going forward, for our small medical team here.

The connections made with other parents was invaluable, and we are looking forward to going back and reconnecting with the families and spending more time with the doctors.

DC is extremely rare.

Gabby is the only known surviving person In New Zealand with it. To our knowledge there have been just three others diagnosed. All have passed away at a young age.