Event Description
Please join us in participating in the Rothmund Thomson Syndrome Foundation Virtual 5k, 10k or Half Marathon on September 12, 2021 the choice is yours!! THIS IS A DONATION ONLY EVENT!
Below you will find my daughter's story and the reason I will be participating!
Lucy Ava-Mae Hanson is 2 and half years old and she is one of less than 500 people in the world with Rothmund Thomson Syndrome. Our story began when I was 18 weeks pregnant and an ultra-sound that confirmed she was growing at a slower rate than she would have been and was diagnosed with IUGR (intergrowth uterine growth restriction), we had no idea at that time that Lucy was simply destined by genetics to be a little smaller than the average baby. She was born six weeks early at 2lbs 4ozs and spent 35 days in the NICU. From the moment she was born she was strong, brave, happy and tiny. Around three months of her life she began to develop a rash on her cheeks that was rather persistent. It was diagnosed as eczema and we went on with our life. In October 2019, it began to spread to the backs of her legs, her arms and hands it was clear to us that this was potentially something more than simply eczema and so we were seen by two more dermatologist. That was when we first heard of RTS. We met with a pediatric dermatologist in Boston and had genetic testing done that confirmed she did indeed have RTS.
RTS is characterized by the following clinical features:
- A unique skin rash, that begins in infancy usually on the cheeks, and spreads to the arms and legs and persists for life. This rash is called poikiloderma, and consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin.
- Sparse/absent scalp hair, eyebrows, and/or eyelashes
- Small stature
- Diarrhea and/or vomiting in early childhood
- Bone deformities
- Dental and nail abnormalities
- Juvenile cataracts
- Cancer: skin (usually basal cell or squamous cell carcinomas) or bone (osteosarcoma)
By joining us and collecting donation you will help us continue to promote RTS awareness to the general public, healthcare professionals, and individuals affected with RTS and their family members. Your donations and participation will also enable us to sponsor annual conferences and regional seminars, keep the patient registry going and expand research activities worldwide.
Funding for extremely rare genetic conditions is incredibly hard to come by, organizations of all sizes have had their funding impacted by COVID-19, the harsh reality of the situation is that the larger organizations are seeking out the smaller funding this year more than they have in years past making it harder and harder for our leading researcher to secure the funding needed to keep her research alive. Please consider sharing and purchasing!
Click the link below to purchase the official RTS Virtual 5k, 10k, half marathon merch! May different styles and sizes to pick from!
