Mieke and Hilary from DC Action were lucky enough to represent DC Action at the biennial DC Outreach meeting at Camp Sunshine in Maine USA this month.
25 families affected by dyskeratosis congenita, their supporters and medical advisors met for three days of fun, information and mutual support. We are hugely grateful for the medical experts who gave up their precious time in preparing talks and spending time attending the meeting and talking to us about their work to improve treatments for dyskeratosis congenita.
We are also grateful to the many volunteers at Camp Sunshine, who provided food, entertainment and support which allowed whole families to enjoy the benefits of the meeting.
Thanks also to Robin Huiras, Rachel Godfrey, Lisa Helms-Guba and the DC Outreach board who have worked tirelessly on all our behalfs to make this meeting happen.
Highlights:
- Meeting so many other families.
- The ‘teenagers’ gang getting along so well, helping each other out and having fun round the campfire.
- The Galactic destroyers beating the Starblasters on talent….but losing on flag spotting.
- Eating thanksgiving dinner together.
Medical highlights:
Gentler methods of bone marrow transplant
In the past bone marrow transplant has been a risky procedure for those with dyskeratosis congentia. Harsh drugs and intensive X ray treatment (‘conditioning’) used for preparing the bone marrow before the transplant have caused problems with infection and other complications after the transplant such as thrombosis (blood clotting) disease, graft versus host disease (where the transplanted cells attack the body and cause severe inflammation of skin, liver and gut), and may provoke pulmonary fibrosis and other DC complications.
At the meeting, Drs Tolar and Agarwal described new gentler treatments (‘non/minimally mylelablative’ conditional) to prepare the bone marrow for transplant. These have produced impressive outcomes in the first few patients to be treated under these regimens.
Role of telangectasia and (arteriovenous) malformations
Telangectasia are small blood vessels on the surface of the skin, in the gut or lungs. In DC, these can bleed internally in the guts or the lungs. Treatment with thalidomide is a possibility.
AV malformations are blood vessel abnormalities which can occur in the lungs of people with DC and cause reduction in blood oxygen.