Meet my newest HCU Heroes – Xander and Max from Barnsley, South Yorkshire, UK!
Sophia Tattersall reached out to me this week & shared her sons’ story which is a testament to the importance of mandatory newborn screening for Homocystinuria. I’m thrilled to dedicate part of my 2014 Boston Marathon to this dynamic duo!
In the UK, where the Tattersall’s live, they currently don’t screen for Homocystinuria at birth. Xander (age 7) and Max (age 4) were diagnosed with HCU on August 9, 2013 after Max was in epileptic status. His neurologist just happened to check the right box on a series of blood tests which lead to their diagnosis.
Both boys have experienced learning and behavioral difficulties for a few years. They are both B6 non-responsive. Sophia says, “The last few months have been a roller coaster.”
Upon diagnosis, they have been under the care of Dr. Sufin Yap at Sheffield Children’s Hospital. The boys have started treatment with a low-protein diet as well as formula containing amino acid supplements.
One unusual side-effect of the treatment is that the boys’ hair has changed from blond to dark brown, as HCU affects pigmentation.
Here’s Xander before treatment:
And here’s a recent photo of the boys (Xander on the left):
The family was recently featured in several articles that were published on World Rare Disease Day(February 28th).
Here is a link to one of these articles:
If you’d like to make a donation to NORD’s HCU restricted research fund in honor of Xander & Max, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon: