South Mississippi Strong: Family stays positive after infant is diagnosed with rare disease

South Mississippi Strong: Family stays positive after infant is diagnosed with rare disease

GULFPORT, Miss. (WLOX) - Colbi Capuano was born with a rare disease, one that makes life a little more challenging. But her condition isn’t stopping her or her family from staying positive. In fact, they set out every day to find what they call a “Colbi positive.”

The sound of life-sustaining equipment is a constant sound in the Capuano home. The equipment monitors Colbi’s pulse, oxygen saturation and even feeds her. But, the constant whir of the machines come as a comfort to the Capuano family who seven months ago didn’t even know if they would be able to bring their baby girl home.

💕💕#colbistrong💕💕 Colbi has been doing great at home and she is working hard!! Everyday she is getting a little bit...

Posted by Megan Pittman Capuano on Thursday, November 21, 2019

“You’re prepping for the worst and praying for the best," said Colbi’s mother Megan Capuano about her daughter’s first few months of life. “At the time, just thinking maybe it’s something... that it wasn’t as, as rare or severe as what it possibly could be. But in reality, you’re kind of prepping yourself along the way. I feel like the biggest emotion when we were at Memorial (Hospital) for the first three weeks was I possibly could have a child with an IEP or a learning disability. And then you progressively start thinking, I might have a child that cannot walk or talk. And then you get to the point you might have a child that can’t breathe. And so it was a long journey."

For her parents, not knowing what was wrong with her was the hardest part, according to Colbi’s dad Joseph Capuano.

It took three months for doctors to diagnose Colbi with a rare condition called Combined D-2- and L-2-Hydroxyglutaric aciduria. It’s so rare, in fact, that Colbi is one of only two children in the United States that have it.

According to the U.S. National Library of Medicine, Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone, and breathing and feeding problems.

Her parents know her diagnosis comes with challenges, but they’re prepared to take them on.

“We have some mountains to move and we definitely plan on moving some,” Megan said.

The road to the diagnosis was tough but finally, after 223 days in the hospital, Colbi was able to come home to be with her parents and her sisters, Kylie and Carsyn. Life at the Capuano home has definitely changed.

“We’ve got a board just for medications," said Megan. "We have calendars and schedules. We’ve only been home...yes, the 23rd actually made a month and we’ve had seven doctors’ appointments total. Between the neurologist cardiologists, we’ve got pulmonologists and EMT coming up. So, it’s a lot and it’s a lot of organization that has to be put into play. We have checklists that we do because it’s easy to miss something. We have to sign off things daily to make sure we don’t just accidentally skip something.”

The transition of bringing Colbi home hasn’t been without its challenges but Megan and Joseph say they’ve drawn strength from their community.

“We have an unbelievable support group," said Joseph. “We have a lot of help... from our family and friends to, you know, our coworkers. We have our church community and just our local community. Everyone has been unbelievable, you know? We can never thank everybody enough for everything that they’ve done and just hopefully one day we’ll be able to, you know, help somebody the way they’ve helped us."

The attitude and strength of this family unit is something to admire. Despite their circumstances they look to find the good and positive in each and every day, and they do.

“We had options. We can take this and we could given ourselves the biggest pity party and asked why and thought how awful it was," said Megan. “I read something one day: Asking why, it’s not going to change anything. So, there is no point in looking in that direction. And, I feel I really do, I feel like we have chosen every day to find something positive even on our days, the days that I literally was told I don’t think she’s gonna make it today because they’ve looked at us and they told us that."

Colbi, now eight months old, has already exceeded doctor’s expectations.

“Your perspective just changes, you know? The fact that she’s here and doing so well, it makes me so happy," said Megan. “I know my child will not- she’s not going to run to me one day, she’s not going to talk to me and tell me things like, of course, any parent would like but what she has done and overcome already is so much bigger than that. She doesn’t have to tell me she loves me because when she opens those big blue eyes, it’s all worth it."

Colbi and her family are not only “Colbi Strong” but they’re also South Mississippi Strong because of the strength they’ve shown in the face of this challenge and the courage they show in facing the challenges to come.

Next weekend, the community is invited to come out to a Breakfast with Santa fundraiser that is being held to help the Capuano family. It’s happening Dec. 14 at Trinity United Methodist Church in Gulfport.

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