Man’s Charity Skydive Raises Coffin-Siris Syndrome Awareness

In 2015, Luke and Hayleigh Tate welcomed their daughter Maisy-Leigh into the world. However, following an emergency C-section, Maisy-Leigh was taken into critical care. The doctors noticed a number of characteristics associated with a rare multiple malformation genetic syndrome called Coffin-Siris syndrome.

Raising Money for Chestnut Tree House Hospice

According to The Argus, Maisy-Leigh spent around 4 months in the hospital before she came home. Suddenly, Luke and Hayleigh were faced with the reality of their daughter’s condition. But they were certainly not alone. When Maisy-Leigh was around one year old, Hayleigh and Luke discovered the Chestnut Tree House Hospice. 

According to the Chestnut Tree House Hospice webpage, Chestnut Tree House is:

The children’s hospice for Sussex and South East Hampshire. Thanks to support from the local community, children and families who know they don’t have long together have the chance to live life to the fullest and say goodbye in the way that is right for them.

At Chestnut Tree House, Maisy-Leigh and her family are able to spend some fun and joyful time together. Luke and Hayleigh are incredibly grateful for the opportunity to have this time with their daughter, and for the support they have received.

So, to benefit Chestnut Tree House, Luke will be doing a charity skydive on March 16, 2022. He hopes to raise £1,000 (approx. $1,321) for the charity. As of today, he has so far raised £700 (approx. $924.84). To help Luke on his quest and support Chestnut Tree House, you may make a donation here

What is Coffin-Siris Syndrome?

ARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SOX11, and SMARCE1 gene mutations have all been linked to Coffin-Siris syndrome, a rare genetic disorder. Only around 200 cases of Coffin-Siris syndrome have been identified. Symptoms associated with Coffin-Siris syndrome may be evident at birth (congenital). These, as well as the characteristics of this condition, may be variable in nature. Potential symptoms and characteristics include:

  • An unusually small head
  • A broad nasal tip and low nasal bridge
  • Intellectual disability
  • Frequent respiratory infections
  • Wide mouth with full, distinctive lips
  • Abnormally long vertical groove between nose and upper lip
  • Sparse scalp hair with excessive, thick hair growth elsewhere (eyebrows, eyelashes)
  • Failure to thrive
  • Unusually short fingers and toes with underdeveloped or absent finger- and toenails
  • Hip deformities
  • Small or absent knee caps
  • Vomiting and feeding difficulties
  • Slowed growth
  • Delayed motor and language skills

Learn more about Coffin-Siris syndrome.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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