Phelan lucky is our February running challenge. It has been designed to raise awareness of Rare Disease Day which occurs in Australia on February 28th.
Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.
For this particular challenge, we are choosing to support the Phelan-McDermid Syndrome Foundation Australia.
What Is Phelan-McDermid Syndrome?
P-MS (also known as 22q13 deletion syndrome), is associated with autism, intellectual disabilities, sleep disorders and seizures.
Phelan-McDermid Syndrome (P-MS) is typically caused by deletion, or loss, of the terminal segment of the long arm of chromosome 22. The loss may result from a simple deletion, an unbalanced translocation, a ring chromosome, or other structural change. In the majority of cases, the SHANK3 gene is lost as a result of the deletion; other cases have been described with mutations within the SHANK3 gene.
The SHANK3 gene, which codes for the shank3 protein, is found in the brain, heart, kidney and other organs. Its most important role is in the brain. It supports the structure of excitatory synapses and is involved in processes crucial for learning and memory. It also has an important, if not fully understood, role in proper brain development. Defects of the SHANK3 gene are highly associated with autism. Individuals with Phelan-McDermid Syndrome often have autism or autism spectrum disorders.
There is a wide range of severity of symptoms observed in people with Phelan-McDermid Syndrome. Like other autism-related syndromes, P-MS is associated with intellectual disabilities, sleep disorders and seizures. Most children with P-MS have moderate to severe delays and often do not develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems with eating and sleeping. Other symptoms may include poor thermoregulation and dysplastic finger nails or toenails. Behavioral issues may stem from autism (e.g., repetitive behaviors), from poor communications skills, or unknown origin. For unknown reasons, toilet training is often difficult in this population. In spite of these issues, infants with P-MS tend to be easily to amuse and adults often have a sweet disposition.
Run a minimum of 22k over the month of February, or a minimum of 22km each week for the Phelan-McDermid Syndrome Foundation or take on our Phelan Lucky or Phelan Crazy challenge.
Phelan Lucky – run 100kms or more during the month of February.
Phelan Crazy Solo/Team – this is a 24 hour running challenge.
Those with rare diseases live with them every day of their life. Can you take on an extreme running challenge for just 1 day?
Please note runners should only take on this challenge if they are physically able. All runners take this on at their own risk and Mum Runner takes no responsibility for any injury sustained during this challenge.
Solo Challenge: Run 50kms in a 24 hour period. How you choose to tackle this is up to you. Perhaps you want to do a couple of kms at the beginning of each hour. Perhaps you will commit to a certain number of kms every hour while you’re awake?
Phelan Crazy Team Challenge:
Run 100kms in a 24 hour period within your team. Gather as many team members as you need to achieve this goal.