On 26th April 2020 I am running the London Marathon to raise £2000 for Team Telomere, the only charity in the world for Dyskeratosis Congenita and other Telomere biology disorders. My close family member, Phoebe Roskell, has been diagnosed with Dyskeratosis Congenita, and I've shared her story below. All the money I raise will go directly to Team Telomere, and will support their research efforts in the hope they can find a cure.

Any support or donations you can give would mean the world to Team Telomere, Phoebe, our family and other children and adults facing this extremely rare disorder.

Phoebe's page: https://m.facebook.com/hashtagbemorepheebs/

Team Telemore website: https://teamtelomere.org/

Phoebe’s story

In May 2017 Phoebe, aged just 4 years old, became very unwell and had bone marrow failure. She became blood and platelet transfusion dependent and her parents were told she would need a bone marrow transplant. Many tests later revealed she had the rare and currently incurable disease Dyskeratosis Congenita (DC). DC is a telomere biology disorder and only effects 1 in a million people worldwide.

Telomeres are the caps at the end of each strand of DNA that protect our chromosomes, like the plastic tips at the end of shoelaces. Without the coating, shoelaces become frayed until they can no longer do their job, just as without telomeres, DNA strands become damaged and our cells can’t do their job. This in turn causes premature ageing of cells such as bone marrow hence why Phoebe’s failed.

DC can cause many complications including liver and lung failure, higher chances of cancer and shortened life expectancy.

In December 2017 Phoebe underwent a bone marrow transplant at The Royal Manchester Children’s Hospital. Her big brother Woody donated his stem cells and saved her life. The treatment was gruelling and her recovery was long and exhausting.

The bone marrow failure was successfully cured but the disease was not. Phoebe suffers with episodes of extreme fatigue, joint pains and headaches. She is regularly seen by different medical teams including Haematology, Respiratory, ENT, Ophthalmology, Dental and Oral Medicine.

Phoebe is fabulous and brave and has endured so much in her short life. Her smile lights up a room and she is an inspiration to us all, the reason why #bemorepheebs was born!

Much research is being carried out by the incredible charity Team Telomere that support Phoebe and her family. It is a 100% non-profit charity, with every single Physician, Scientist and board member giving up their time completely voluntarily.

Every single penny goes into support, advocacy, treatment and most importantly research into a cure. They are doing incredible work but as the disease is so rare, the charity is small.

Thank you so much in advance for any support you can give.

Emily xx

Phoebe's page: https://m.facebook.com/hashtagbemorepheebs/

Team Telomere website: https://teamtelomere.org/