Local family spreads awareness of genetic disorder

By  | 

HAYWOOD, W.Va. (WDTV)-- For the last few months, it has been a challenging time for the Owens family. Their five-month-old daughter was recently diagnosed with a rare genetic disease.

Elaina has a condition called Methylmalonic Acidemia or MMA. It is a type of organic acid disorder where her body is unable to break down proteins and fats.

At two days old, the family wasn't even home for an hour before she went lifeless. That is when they rushed back to the hospital.

"Since two days of age she has been in and out of PICU for all different reasons. Some of them have been for feeding issues, she has been lethargic, her lab results were coming back abnormal and they didn't really know why. We just kept getting told this is going to sound crazy, we are going to sound dumb, but we have no clue what is wrong with her at all and it is just something hopefully she grows out of," said Owens.

But Fallon knew something wasn't right. That is when she called UPMC in Pittsburgh. After several tests, doctors were finally able to make a diagnosis.

"Before we found out about Methylmalonic Acidemia I had no clue that it even existed. Once we found out that she had it we were still very lucky because most kids go undiagnosed with it and they usually don't make it past the first year of life," said Owens.

The condition causes her to have weak muscles and growth delays, but the family was fortunate to catch it early.

"My thing is that is if I would have never pushed or set up that appointment at Pittsburgh myself I don't know where we would be or what road we would be down now. For all mothers, don't settle for no or it will get better on its own as an answer. You are your child's voice. You have to push and fight for your child," said Owens.

The family expects to get lab results at the end of this month that will determine what type Elaina has and the treatment plan.

Owens said through the help of friends, family, and faith she remains strong.

"She is definitely my little miracle baby," said Owens.

MMA is estimated to affect one out of every 50,000 to 100,000 babies born.

Owens said Elaina continues to see therapists and luckily she is gaining weight. However, medical costs are expensive. Her formula that she needs monthly is $500 on top of everything else. That is why a fundraiser is being held to help Fallon and her husband Michael with expenses.

A LuLaRoe fundraiser is being put together by Shannon Kellar. You can find the sale and purchase items of clothing by clicking the Related Tabs link to your right and joining the Facebook group.

All of the proceeds will go to Elaina's medical bills and savings account. Once a certain amount is reached LuLaRoe will also match the amount.