HCU Heroes - Sienna's Story

The following blog post was written by Allison Thomas about her daughter Sienna.  

Sienna was diagnosed with HCU in 2009 as a result of an eye exam.  The Thomas family is very active in the HCU community.  They've created a Facebook support group called Homocystinuria .  They are also in the process of setting up a charity organization in the UK called HCU CREDS (cure, research, early diagnosis, support).  Here's a link to their website : HCU CREDS

Alison is also currently training for the London Marathon, and she is raising funds for the  Make a Wish Foundation.  You can follow her progress here: Ali's Marathon Adventure

I am thrilled to dedicate one of my Boston Marathon miles to this lovely little lady!

Back in September 2009, after large periods of squinting, we took our five year old daughter to the Opticians for what we thought would be a routine "check up" and the prescription of some glasses.  At 5PM that evening we were told that our daughter had a bilateral lens dislocation of her eyes.  We had no idea what this meant and were left alone with "Google" for the evening.

A quick search on the Internet revealed that a bilateral lens dislocation was normally the first trait of something more sinister.  Our hearts were broken and from that day on, our lives would be changed forever.

Homocystinuria (HCU) is a rare genetic illness that at present isn't curable, only controllable.  We, as parents, felt incredibly isolated during the first 3 months of initial diagnosis, tests and operations that were necessary, before confirmation just prior to Christmas, that it indeed was Homocystinuria.

Our local GP admitted that it was only something they had read about, but had never heard of or experienced an actual patient treatment.  There were no other families we could find that had been through what we about to embark on.  There was no readily available literature; in fact we resulted in buying medical textbooks and trying to understand them.  Even the Internet appeared to have minimal content on the subject.  To say we felt confused and isolated was an understatement.

As part of our journey over the last 3 years, we have always felt that more support and help is necessary to families devastated by the same news that we got.  Through social media we set up a HCU page, and have been amazed that we now have group members from all over the world who suffer, or whom have family members who suffer, from HCU.  The world is a big place, but suddenly we didn't quite feel as alone as before.

If you'd like to make a donation to NORD's HCU restricted research fund in honor of Sienna, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:

http://www.firstgiving.com/fundraiser/kristinrapp/bostonmarathon2014

And/or if you'd like to make a donation to the Make a Wish Foundation, please stop by Alison's fundraising page for the 2014 London Marathon: 

https://original.justgiving.com/Ali-Thomas40/