Jacquie Roskell is a new member of the DCO Community. Jacquie lives in Lancashire, UK with her husband Shaun and their two gorgeous children Woody (7) and Phoebe (5) – oh, and their beloved lab Denzel, too!

In May 2017 their lives were turned upside down when Phoebe (then 4) became unwell. She had been suffering from recurrent fevers, had looked very pale, was extremely tired and lethargic and was bruising all the time. After following the instincts of one astute nurse, and meeting with several doctors, they finally got some answers.

Eventually, Phoebe was finally diagnosed with Dyskeratosis Congentia, confirmed with a TINF2 gene mutation. Jacquie and her husband were ‘shocked and devastated’. After hearing the diagnosis, she immediately hopped online to do some research, as their nurses and consultants had little knowledge of DC. “The isolation and fear of a rare disease diagnosis to our precious child was unbearable,” said Jacquie. A quick search on Facebook with those two terms [Dyskeratosis Congenita] brought her to
our DCO page and it’s family of supporters.

Jacquie found solace in chatting with other families from Australia, New Zealand and the U.S. which have been plagued by this disease. She then spoke with our President, Katie Stevens, who sent her our helpful DC Guidelines and ensured that Phoebe receive one of our Care Packages as well as a Rare Bear to comfort her. Jacquie was also referred to our very own Dr. Argawal, who helped to put her at ease.

Phoebe is doing much better now, to say the least. She received a bone marrow transplant from her courageous brother Woody (also known as ‘Super Woody Roskell’) this past fall, and is showing clear signs of improvement. Both her and Woody showed so much resilience and strength throughout the entire process. Their attitudes continue to inspire Jacquie and her husband. “We should all be more like our children”, she says.