A THANK YOU LETTER FROM THE HEART!
– SAMANTHA’S MOM
This past weekend we had the chance to attend our first HCU USA – Homocystinuria Conference. I must say I was blown away!
We learned a lot and gained a deeper understanding of this rare condition!
Most importantly, we were able to meet other families (and their kids) with HCU and we made some awesome new friends! 💙
Samantha has always been one of my heroes but I guess what I didn’t quite understand was how a relatively healthy and normal, young adult could have such a condition and really never know it. It’s true we always had an idea something else was going on but until now, I really never knew how truly we are BLESSED in every sense of the word.
As I sat in a room of Heroes, I could not believe a community our size lacked the resources available for Healthcare Professionals to group together and diagnose Sam’s HCU. I now do understand why and hope today we can use our knowledge to help others through unchartered territories.
As a parent, we use our energies to believe we can do it all. | It’s really better to go into the week thinking we can … I still am trying to figure out how to wrap up how much I learned! |
What else I learn and will continue to learn about is how to educate others with the knowledge that is given and that I am a tireless advocate always trying to do more. Why? Because I can! Because others have given so much to me.
I rock those protein bars in my life! I’m not a fan of JackFruit and I may act a little crazy and sarcastic at times but that’s for another day.
If you want to learn more about HCU head over to the website. You can also check out Samantha’s FB site – Make A Splash 4 the Heart.
I want to thank Danae Austin Bartke
who is the Executive Director of the HCU-USA Network. With the help of so many including health care professinals from around the country, she organized such an informative weekend that I have no idea how we could possibly have absorbed more information. My BRAIN still hurts!
You Rocked it, Sister!! 😉☀️👻💞🌎 Homocystinuria – HCU Network America EveryLife Foundation for Rare Diseases Loeys-Dietz Syndrome Foundation 🥰
Cannot possibly begin to tag everyone we are THANKFUL for and Blessed to call Friends! 💞
WHAT IS HCU?
#Homocystinuria is an elevation of the amino acid, #homocysteine (one of the building blocks of protein) in our urine or blood.
High homocysteine can be caused by #Cystathionine-Beta-Synthase (relates to B6), #Cobalamin disorders (relates to B12), remethylation disorders , such as #MTHFR (relates to Folate ((which is B9) and B12).
#HCUAwareness2019: #HCUFact #Homocystinuria effects multiple symptoms of the body, including: Ocular (eyes), Central Nervous System (Brain), Skeletal (bones) and Vascular (heart).
The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations.
Newborn screening suggested an incidence closer to 1:100,000 in New York State and 1:67,000 in California, where an incidence of 1:46,000 was estimated in the Hispanic population [Cusmano-Ozog et al 2007, Weisfeld-Adams et al 2010].
In China the incidence is much higher with a reported incidence of 1:4,000 children in the Shandong province.
Other types of Cobalamin Defects are less common.
Fewer than 40 cases have been described for cblE and cblG, and fewer than 20 cases each for cblD, cblF, cblJ, and cblX and its related types
#HopeConnectsUs #GoBlueForHCU #Homocystinuria
Checkout this informational clip to learn more about diagnosing Cobalamin defects and their incidence: https://ytcropper.com/cropped/Jh5d9b8ebd73b3c