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Hannah Robinson avatar
Hannah Robinson

Hannah's page - next event Great North Run 15th September 2013.

Fundraising for Lowe Syndrome Trust

163 %
£654.64
raised of £400 target
by 33 supporters
Donate
  • Event: Half Marathon of the North 2013, 28 Apr 2013

Lowe Syndrome Trust

We Drive and fund Medical Research to improve lives of Lowe syndrome families

Story

My brother William has Lowes Syndrome probably a condition you have never heard of.  Sadly the life expectancy of William may be short due to the complications of the disease and the lack of funding to find a cure, however i will always remain hopeful he will defy any stereotypes. The charity supports families and initiates and funds medical research into Lowe Syndrome.

Lowe Syndrome is a genetic disorder that can occur with no family history, affecting boys and multiple physical and mental handicaps including cataracts in both eyes, muscle weakness (hypotonia or floppy baby syndrome), kidney problems, cysts, brittle bones, arthritis, poor growth, mental impairment with behaviour problems (autistic spectrum disorder) and epilepsy.

I was diagnosed as a carrier when I was as young as 5 years old. This meaning if I was to carry a boy it would have a 50/50 chance of having Lowes. I put motherhood in the back of my mind when growing up even thinking I would never be a mother. In my mid twenties I made an appointment with a geneticist to discuss my options and was trilled that with research there was a DNA test available to detect the Lowes gene. IVF was now an option to radicate the affected gene and even early detection. I went through the process of putting a test in place matching my DNA to my brothers so they knew exactly what they were looking for and waited and waited to hear from the geneticist. A letter did arrive stating they were unable to match the DNA because in actually fact I wasn't a carrier. Great news and it was but i struggled to take on board my new diagnosis. Struggled so much that I went back for a further two test ( at which point they were sick of me). My genetitist was pregnant on my last visit ill always remember she held her bump and said ' Hannah you have as much chance off conceiving a child with Lowes as I have, now go away and enjoy your new diagnosis please' 

As you all know I now have the perfect little boy, Emerson, he's extremely precious to me as he's the little boy I never thought I'd have. Even through pregnancy I was tempted to speak with the geneticists but I remembered that last conversation. I never wanted to find out what I was having, I didnt want to spend my pregnancy worrying but I knew deep down I was carrying a boy and I knew everything would be ok. 

If it wasn't for the funding the charity receives William wouldnt be receiving new medicines to help him with the effects of this condition, I would still have a carrier status and I wouldn't have Emerson.It's now my turn to do what I can to help others affected by this syndrome.

Thats my story, thanks for taking the time to read it. 

Any donations would be gratefully appreciated by myself and the charity. 

Thanks 

Hannah.

 

 

 

 

 

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Photos

5
  • William taking a helicopter flight!!
  • All of us!
  • Just chilling!! +3

Supporters

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