The following blog post was written by Sarah and Cole Sullivan about their children Colbie and Cayle. This story makes my heart melt! Both Colbie and Cayle were diagnosed with HCU after Colbie suffered a massive blood clot on her brain. I'm honored to share their story and dedicate part of my 2014 Boston Marathon to this adorable sibling team!
In June of 2012 shortly after Colbie’s 3rd
birthday she suffered a massive blot clot on her brain. She was flown from
Montana to Seattle Children’s Hospital to get treatment for the blood clot. The
doctors were confounded as to what may have caused the small strokes and blood
clot. After a week’s stay and many tests they still didn’t have an idea. They
had chalked up the cause as chance or a freak incident. They allowed us to
return home with follow up appointments scheduled 6 weeks out.
It wasn’t until a month later, July 2012, when we were on
the follow up visit that the doctors tested her blood for homocystine. Her
levels were abnormally high and it alerted the doctors to what the cause of the
blood clot may have been - her levels were so high that Colbie’s blood had
become toxic and prone to clot. The next day we got to sit down as a family
and learn about Homocystinuria or HCU – a metabolic disorder so rare that we
had never heard of it. We had an hour crash course on the metabolic disorder -
we learned that our daughter didn’t develop this disorder but was born with,
natural protein in food is essentially poison to our daughter, and that she
would have to go the rest of her life on a high amount of medication, lab
formulated protein, and a strict vegan diet. It was a lot to absorb, Colbie’s
world was turned upside down – she had practically lived on dairy products up
until then.
We also learned that HCU was hereditary and we should have
our son tested for the disorder as well. Being that we are from the state of
Montana, which doesn’t require a second blood screening two weeks after birth,
we had Colbie’s brother Cayle tested for HCU – it came back positive. We took
the diagnosis of our son pretty hard – such a rare disorder and we have two
kids with HCU. The following weeks were filled with the thoughts and stresses
of how the kids’ lives will be affected since our society and social events in
America are based so strongly around food.
It is the simple things in life that many people take for
granted that remain at the forefront of our thoughts every day. If one of their
friends has a birthday party we must supply a specially made treat. If the
neighborhood ice cream truck comes through we must explain that they cannot
have a treat from the truck but that they can have a different treat. If we
attend a movie at the theater we must smuggle in diet friendly snacks. The
overwhelming stress and anxiety of the holidays can only be understood by a
small amount of the population.
Today with the help of their daily medication, lab
formulated proteins, and very strict diets the kids are getting along well.
Other than the clot that Colbie suffered we have not experienced any other of
the side effects from this metabolic disorder.
If you'd like to make a donation to NORD's HCU restricted research fund in honor of Colbie and Cayle, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:
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