My name is Amanda Edwards and I have four wonderful boys and
two of them were diagnosed with HCU in July of 2016. We found out when Gavin
went for his annual eye exam the end of 2015 that his lenses had dislocated and
just a month after that we took Zakary for his annual eye exam and found out
that his lenses were also dislocated. They referred us over to a geneticist at
Brenner Children’s Hospital and that is when we found out that they had HCU.
The geneticist at Brenner’s wasn’t experienced in HCU so she sent us to UNC
Children’s Hospital to see Dr. Lori Smith. When she did blood work and got their
levels back they were both over 300.
We have battled constantly with their
levels due to having a hard time with adjusting to the food change and the
medicines since Gavin was 10 and Zakary was 5 when they were diagnosed they
didn’t take well to the formula and diet change. In March of 2017, Zakary was
sent to Nationwide Children’s Hospital in Columbus Ohio to have his lenses
removed and artisan lenses put in place, in August 2017 Gavin had the exact
same surgery. In total we had to make over 20 trips in a year.
2018 Zakary had an accident at home playing with his little brother and got one
of his lenses knocked lose so we had to make an emergency trip to Ohio to have
another surgery to repair it. After these surgeries the boys made 100% turn around
with their vision before their surgeries they both couldn’t see the 20/400
letter with glasses and after their surgeries they both could see 20/30 and
20/40 without glasses! We were so excited of the progress that both the boys
were making their levels were slowly coming down and everything was looking up
for them.
Then sadly on Thursday October 19th of this year Zakary
had just finished playing his baseball game and about 2 miles from the ball
field on the way home Zak told me he was going to be sick so I pulled off the side of the road
and he got out, he never got sick and got back in the car and started jumping
up and down and had tears rolling down his face and told me to call the doctor,
I got him back out of the car and his was breathing really fast and still
jumping and crying I look over at him and his face had turned blue we both went
down. My husband Brian pulled up right after that and started CPR a nice man
had stopped to help me and told us to take him to the fire department which was
about a mile from us. Brian loaded him in his truck and we took him to the fire
department he had already went limp again so he started CPR on him again I
finally got the firemen out there to help us and shortly after that the EMS
arrived and took over. While in the ambulance, the paramedics lost him for 15
minutes while on the way to the hospital. Once they made it to the hospital
they had finally got him stabilized and things were looking ok then he started
having continuous seizures that they couldn’t get under control, the first few
days everything was looking good his brain wasn’t swelling and his eyes were
still reacting he was out breathing the ventilator. Then Saturday came around
and he still wasn’t waking up and nothing was really changing, the doctor
called us into a small room and told us that things weren’t looking good and
that we most likely would be going home without him. We tried to stay positive
because we knew the only person that could tell us that he wouldn’t wake up was
God. Saturday night came around and they did another CT scan and his brain had
swelled so bad that you couldn’t even make it out it was just solid white.
Monday his eyes stopped reacting and that is when we knew things weren’t
looking good. On Wednesday October 24th 2018 our precious Zakie left
us to go play Baseball with the angels in the outfield.
months now that he gained his angel wings and it still feels like a bad
nightmare that I’m going to wake up from and see my little boy running at me
with arms opened wide and that big smile saying mommy I love you and giving me
one of his big bear hugs. The hardest thing for me is that I will never get to
cheer him on at his baseball games (which were his life), I’ll never get to see
him graduate high school, I’ll never get to see him get married or have
children. Our community has been a wonderful support and it just shows how many
lives that our sweet angel touched. We have had so many people to tell us that
they had only met him once but that he had made such an impact on them. He had
a pure heart and loved everyone no matter your flaws he never saw anything
wrong with anyone. When we were at church he would always be the first person
behind you if you went to the alter to pray and he always put everyone before
himself. His 3 brothers have taken it really hard especially his little brother,
Hunter, he was his best friend they did everything together. Hunter talks about Zakie
everyday, no matter what.
Needless to say our journey with HCU has been very
traumatic and I pray that I won’t have to ever deal with something like this
again but knowing that Gavin also has HCU scares me to death because we never
know if something like this is going to happen to him also. The only thing we
can to is to work harder at getting Gavin to follow his diet and take his
formula like his is supposed to. I do believe that if we would have found this
on their newborn screening it would have been a lot better for both of the boys
in many ways. First, they would take their formula without having as many problems
because they would be used to it and second, the diet wouldn’t have been a big issue
because they wouldn’t know any different.
a little over 2 years and I would have never guessed that we would have had so
much to go through in such a short time. I just pray that they will be able to
find a way to catch HCU better on newborn screenings so that it gives the
children a better chance of life. Both Gavin and Zak had several side effects
from not finding out until they were older, they both have a severe learning
disability, they both had to have the eye surgery, Zakary had a mild case of
scoliosis and they both had several behavior problems from it.
been very hard to write but I know by telling our story that we may be able to
help another family from having to go through what we have been through. To read more about the Edward’s Family story, you can click on the following link: thomasville-parents-mourn-loss-of-8-year-old-son-who-had-rare-genetic-disorder
If you’d to donate in honor of Gavin or in memory of Zakie, please click here: Kristin’s Fundraising Page for HCU Network America
