Molly’s Kids: Addison Martinez with rare genetic mutations

Molly’s Kids: Addison Martinez with rare genetic mutations
Addison Martinez doesn't actually have the flu; those are just the symptoms of the two rare genetic mutations she was diagnosed with in August of 2018.

HARMONY, N.C. (WBTV) - Imagine living with the flu, everyday, 24 hours a day, 7 days a week. Those are the kind of symptoms Addison Martinez lives with. This 6-year-old from Harmony, is the newest one of our #MollysKids.

She doesn't actually have the flu; those are just the symptoms of the two rare genetic mutations this Iredell County girl was diagnosed with in August of 2018.

Those two mutations are:

  • HID (Hyper IgD Syndrome) - This is an inherited auto inflammatory disease that causes lifelong, recurrent attacks of fevers. Also has other symptoms like abdominal pain, vomiting, diarrhea, and skin lesions.

And...

  • FACU (Familial Atypical Cold Urticaria (FACU) - A “new” cold-induced inherited disease. Not much known about it yet except that it can cause some of the same symptoms as HID.

Getting answers isn’t easy for the Martinez family. Never has been. Mom Tricia Martinez says that although Addy started showing signs as a baby that something was wrong, their family was constantly told not to worry about it, that "babies always get sick."

It wasn't until her Pre-K teacher agreed that something was off that Addy's family was able to urge doctors to look further into problems. After undergoing a genetic test last August, Addison and her family finally got these two diagnoses.

There are daily struggles, however, Tricia says Addy doesn't let her either disease slow her down. She says her daughter is vibrant, loves life, plays tee-ball for the Harmony Owls (how cute is this picture) and loves her coach Jake Smith. She also adores spending time with her three siblings: Mackenzie (11), Hunter (7), and Azalea (will be 2 in September).

Tricia says one of Addy’s great gifts has been her teachers and the staff at Harmony Elementary School.

“They are incredibly supportive,” Tricia said. “They have been throughout the school year. We think we’re handing things well right now… our next goal is to just find a good treatment plan to help manage Addy's flares. We even applied for a study in Maryland to attend an auto inflammatory convention in August. If we get to go, we’ll learn more about how to manage Addy's diseases better.”

Right now, Addy sees a rheumatologist and a GI doctor in Charlotte, and visits Levine Children’s Hospital every three months for blood work.

Welcome to #MollysKids, Addy.

-Molly

**Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there, which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story and updates on all #MollysKids here.

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