Father’s Marathon for Son with Rare Phelan-mcdermid Syndrome
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Bath, England – A father is spearheading a steadfast effort to secure a brighter future for his young son, Jenson, who has been diagnosed with Phelan-McDermid Syndrome (PMS), a rare genetic condition affecting approximately one in 14,000 births (PMS Foundation). Tom,a sports agency owner,has launched a fundraising campaign and recently completed a grueling challenge: running nine marathons in nine consecutive days.
A Harrowing Start to Life
Jenson faced a life-threatening crisis within days of his birth, collapsing and requiring life support at Bristol Children’s Hospital. He spent his earliest weeks battling for survival.Doctors later determined Jenson had both Phelan-McDermid Syndrome and Ring 22, a related chromosomal abnormality.
“We were told he had very little chance of survival, but he powered through,” Tom shared. He and his wife, Kim, noticed developmental delays early on, observing that Jenson wasn’t reaching typical milestones like smiling, pointing, or sitting.
Understanding phelan-McDermid Syndrome
Phelan-McDermid Syndrome is caused by a deletion or mutation of the SHANK3 gene on chromosome 22. This genetic alteration leads to a spectrum of developmental and physical challenges, including intellectual disability, speech delays, and autistic-like behaviors. research suggests the SHANK3 gene plays a crucial role in synaptic plasticity,the brain’s ability to form new connections (National Center for Biotechnology Facts).
Did You Know? Approximately 3,500 individuals worldwide are diagnosed with PMS, with only around 300 also carrying the rare Ring 22 chromosome abnormality.
A Father’s Dedication
Tom’s fundraising efforts are focused on supporting CureShank, a charity dedicated to advancing research into PMS. His nine-marathon challenge, which began on june 27th, has already raised £25,000. He hopes these funds will accelerate the growth of effective therapies and, ultimately, a cure.
“I hope they find a cure or life-changing therapy that substantially improves jenson’s quality of life,” Tom stated. Despite the challenges,he describes Jenson as a “funny,handsome” child who is “obsessed with cars,tractors,and bikes” and possesses “a smile that would light up a room.”
Pro Tip: Early intervention therapies, including speech therapy, occupational therapy, and behavioral therapy, can significantly improve the quality of life for children with Phelan-McDermid Syndrome.
Key Facts About Jenson’s Condition
| Condition | Prevalence (Worldwide) | key Characteristics |
|---|---|---|
| Phelan-McDermid Syndrome | Approximately 1 in 14,000 births | Intellectual disability, speech delays, autism-like behaviors |
| Ring 22 | Estimated 300 cases worldwide (co-occurring with PMS) | Similar characteristics to PMS, often with additional health concerns |
What are the biggest challenges facing families with children diagnosed with rare genetic conditions like PMS? How can communities better support research and provide resources for these families?
The Growing Need for Rare Disease Research
The story of Jenson and his family highlights the critical need for increased research into rare diseases. While individually rare, collectively these conditions affect millions worldwide. Advancements in genetic testing and personalized medicine offer hope for more effective treatments and improved outcomes for individuals with rare disorders.Raising awareness and funding for research are essential steps in addressing this unmet medical need.
Frequently Asked Questions About Phelan-McDermid Syndrome
- What causes phelan-McDermid Syndrome? It’s caused by a deletion or mutation of the SHANK3 gene on chromosome 22.
- What are the common symptoms of PMS? Common symptoms include intellectual disability, speech delays, and autistic-like behaviors.
- Is there a cure for Phelan-McDermid Syndrome? Currently, there is no cure, but research is ongoing to develop effective therapies.
- How is Phelan-McDermid Syndrome diagnosed? Diagnosis typically involves genetic testing to identify a deletion or mutation in the SHANK3 gene.
- Where can I find more information about PMS? The PMS Foundation (https://www.pmsfoundation.org/) is a valuable resource for families and individuals affected by PMS.
This story is a testament to the unwavering love and dedication of a father determined to give his son the best possible life. We encourage you to share Jenson’s story and support organizations like CureShank that are working tirelessly to find answers and improve the lives of those affected by Phelan-McDermid Syndrome.
