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Daughter's rare condition leads Deer Park mom to fight for answers
A local mom shared her journey of finally getting a diagnosis for her daughter's rare disease in the hopes that their situation will help other families search for answers.
DEER PARK, Texas - A Deer Park mom shared her journey of finally getting a diagnosis for her daughter's rare disease. She hopes their situation will help other families search for answers.
Heather Meza and her daughter Cinnia, spent the first 18 months of her life trying to find a diagnosis, so she would better understand how to help her with things like missed milestones.
"I had actually done genetic testing when I was pregnant with her and nothing had come up as a flag on it, so that was I think a reason nobody rushed to send us to genetics," she explains. "But at that point, we were already pretty heavily involved in speech therapy, physical therapy, occupational because little things had been piling up, like breathing issues and feeding issues."
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The genetic testing answered her questions. She found out her now 6-year-old has a rare syndrome called Cri Du Chat. It's a French term that means cat-cry. Babies with the condition often have a high-pitch cry that mimics a meow. It's a partial deletion of the 5th chromosome. Heather says Cinnia spent 3-years of hospital visits undergoing therapies, testing, and countless procedures, including three major surgeries, nearly 20 MRIs, multiple CT scans, and scopes.
"Cinnia's biggest struggles today are her speech and her attention and right now she's really enjoying listening to the insects, and she's a little camera shy, so it calms her down some, but in school, she has support to help her stay focused on things. She's a little off-balance sometimes, but you know, otherwise really. She's just a ball of fun! She's so fun, and she's so playful and curious," says Heather, smiling.
Cinnia enjoys soccer and ballet. She can use adaptive equipment like an AAC (voice device), an adaptive stroller, and noise-canceling headphones, to help her communicate.
Heather shared advice for anyone dealing with a rare condition.
"A lot of people will tell you if you hear hoof beats, to think of horses, not zebras. But when you've already looked at all the horses, and they don't match, you have to start looking at zebras, and sometimes that takes some work to find the doctors who will help you! My advice is - if you have a doctor who's not going to listen to you and at least hear you out, then find a new doctor, especially if you live here in Houston, where we have such a large variety," explains Heather.
Heather and her family also encourage everyone to find a doctor who will do everything in their power to help them find answers.
"Our pediatrician was amazing! She really fought side-by-side with me. If I said, 'Hey, I'm really concerned about this,' she didn't question me. She was like, ‘Let's get a referral. Let's get you in’ and if I tell her it’s going to be four months before they can see her, then she would make phone calls and say no, it won't be. I fired a few doctors, who would blame new symptoms on her condition and not listen," exclaims Heather.
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Heather's final advice is to enjoy the ride, even when answers aren't readily available.
"That was a hard lesson to learn though. I think in the early years I spent so much time worrying about how to help her and how to find everything out that we forgot to just enjoy our little one. That's a word of advice I give a lot of: just take time and just remember to enjoy them," encourages Heather.
A deep-rooted faith has also helped this family get through the tough times.
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