Leah was diagnosed with HCU as a newborn in the state of Alabama, and started treatment as a baby. She is B6 non-responsive and has both a CBS definciency and MTHFR mutations. I'm happy to share that Leah is doing amazingly well. She currently shows no outward signs of the disorder. She is a happy & healthy 10 year old, and the perfect example of why mandatory newborn screening is so important!
Here her mother, Sabrina, reflects on those first months & years after her initial diagnosis and gives us an update on how Leah's doing now:
I was sifting through some old papers, trying to find a lab slip for Leah. I just happened to pick up the reports that came to us from Denver. "Genetic Mutation" had meant nothing to me until Leah was born... I didn't even know what one was.
A huge flood of memories.
Her perfect little round head, her tiny helpless body. She laid in that giant "childrens" hospital bed and there was nothing I could do. Loads of needles, IV's, and medicine... bruises on every bend on her upper body. What could I do? Pray? Yes, I did that, daily. From the time she was born, but it seemed my prayers had fell on deaf ears. Why would God allow my perfect little (and only) daughter go through all this?
There are some things that the human mind can not grasp.
I had asked God over and over to heal her. I had fasted and prayed, until my husband, Darrell, thought I was going to wither away to nothing. I had cried. Heaping, sobbing tears. I even questioned. Why? Why would he allow this to happen? Why?
Over the next few months life was filled with doctors, diets, protein guidelines and more.
I worried if the list of things the "genetic team" had given her would ever end. I worried what I would do if she got sick. I wondered how I would handle all the stress that came with just normal childhood colds. I had worried about what my daughter would eat. I worried about if she would get picked on in school. I thought about how her brothers would view her. How I would view her. And... I worried about if she would live a full life. I wondered if she would get married and have a family. There were so many things that swarmed through my head for those first few months of her life. I would sit in bed and watch her sleep. I would almost always cry. Life was hard... I thought life was very hard. And I still had questions that I thought needed to be answered.
Days turned into months, and months into years. We were told Leah would never be able to tolerate more than 3 grams of protein a day. We were told she could develop blood clots, brain damage, that she wouldn't meet milestones "normal" kids reach. That the lenses of her eyes could dislocate and she could go blind. That she could develop heart disease and heart murmurs. That the valves in her heart wouldn't grow and pump they way should. Devastating.
But, after her first tooth, first steps and first birthday party, she was developing wonderfully. Her heart was normal, her eyes were normal. There were no signs of that nasty disorder, Homocystinuria.
Three grams of protein turned into 5. Five turned into 10. Ten turned in to 12, then 15, then 20.... It kept getting better and better.
Today, Leah is up to 35 grams of protein, and is proving all her doctors wrong. She has no signs of HCU. Her outward appearance is completely normal. You could never look at her and think something deep inside her was wrong.
Leah is very competitive and loves sports, of all kinds!! She plays basketball and swims now.
She also loves cooking and baking! LOVES baking. She’s going to be a professional baker. I can feel it.
Leah’s allowance hasn’t changed in 5 years. She’s been at 35 grams since she was 5. She is now taking formula, up until 2017 Formula wasn’t necessary. It seems to be helping quite a bit. She is still (to our knowledge, based on the last statistics released), the last child born in Alabama that was positive for Homocystinuria. We have good days and bad day, but she is a pro at adjusting her feelings when needed. There are days she wants to know why she was born with HCU and there are some days she feels special because of HCU, but most days are gentle a combination of both.
She counts her own food now and is responsible for taking her medication (with supervision, of course).
Most importantly, she is growing into a beautiful, healthy, well rounded tween girl who adjusts well to the things that life throws at her. She is so grounded and I look for her to do big things as she grows.
Leah is a walking, talking miracle. Yes, very thankful indeed!
If you'd like to make a donation to HCU Network America in support of Leah, or another HCU Hero, please stop by my fundraising page for the 2019 Miami Half Marathon:
Kristin's Fundraising Page for HCU Network America
Kristin's Fundraising Page for HCU Network America
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