Previous Next
Olivia T.

The most common, rarest disease.

There’s something to be said for the experience that comes from being a parent.

With your first child, you tend to be hyper-sensitive, always hovering and worrying about every potential risk or accident waiting to happen. If you have a second, you likely bring some of those first experiences with you, not stressing over as many things and generally being a little more, dare we say, chill. Anything beyond that, and it’s every man for himself.

That experience comes in handy in other ways, too. Just take a look at Olivia’s story, for example.

Sierra and her husband already had two children, Conrad (now 8) and Audrey (now 4), when their youngest daughter, Olivia, was born. 

Everything was pretty typical initially and not dissimilar from their previous experiences. But once Olivia got home, Sierra began noticing subtle differences in her youngest daughter’s development.

“Her neck was slightly tilted, and doctors told us she had torticollis,” Sierra explained. “I started reaching out to the neurology department at Vanderbilt to check for nerve damage and enrolled Olivia in the Tennessee Early Intervention System (TEIS).”

Through TEIS, Olivia received therapy treatment to help correct her tight and stiff neck. However, after several sessions, she had little to no improvement and was referred back to neurology.

“They didn’t see much in her testing,” said Sierra. “So they recommended genetic testing, and the results came back positive for 16p11.2 deletion.”

Like most people, Sierra had never heard of that before but was given tons of information and resources to help her navigate it. Olivia’s initial symptoms were so nuanced that they likely would have gone unnoticed or undetected for much longer had Sierra not had the experience of two older children under her belt. Those subtleties made all the difference.

While it's a rare disease, 16p11.2 deletion is one of the most common diagnoses. It’s caused by a deletion of a small piece of chromosome 16, which occurs near the middle of the chromosome at a location designated p11.2. 

People with this syndrome usually have developmental delays and intellectual disabilities, and most also have at least some features of autism spectrum disorders. In 16p11.2 deletion syndrome, expressive language skills like vocabulary and speech are generally more severely affected than receptive language skills (the ability to understand speech), and some have recurrent seizures.

What complicates things is that no particular pattern of physical abnormalities characterizes the condition, and signs and symptoms are incredibly varied. Some with the deletion have no identified physical, intellectual, or behavioral abnormalities.

That’s what they mean when they call it the most common rare disease.

Still, once the condition has been identified, the individual has a 50% chance of passing it on to their children. While it’s not inherited from the parents, Sierra decided to get tested to see if she also had the deletion (given the chance that if positive, she could have passed it on to Olivia or her other children). Her results came back negative.

“When the doctors met with us, they said, ‘Listen. These are all the things that could happen to Olivia. But pay attention to her. She’ll show you what she needs.’” 

So that’s exactly what they’ve done. 

Olivia has difficulty with her mouth and tongue. At two weeks old, she had a tongue tie and cheek release and was referred for oral myofunctional therapy. The goal is to work on the tone in her jaw, how she shapes her tongue, and how she breathes, eats, and chews her food—pretty important stuff.

But frustratingly, the therapy she needs the most is not covered by insurance. Olivia’s family has covered her weekly therapy since she was six months old at $100/session. It’s a huge investment and financial strain on the family, but critical to Olivia’s health and well-being. 

“We’ve already seen progress in Olivia,” Sierra told us. “She usually pushes the food forward, almost like she’s tasting it instead of chewing or swallowing. And she’ll also swallow big pieces of food without chewing them properly, which isn’t safe. With therapy, she’s improved at passing food from one side of her mouth to another and learning how to eat and chew properly.”

She also has hypotonia, or decreased muscle tone, and participates in 3-4 therapies each week to help improve that, too. “She hasn’t missed a beat developmentally,” Sierra proudly explained. “She’s crushing it!”

All of those therapies add up to a big financial impact. The family was considering dropping some of them to save money but struggled knowing how much they’ve benefitted their daughter. It’s an awful decision so many families are forced to make. Spend the money to help their children improve or save it to stay out of debt. 

Chive Charities exists to help more families stuck in this awful conundrum. We fill the gaps where insurance and other resources cannot. Through the support of our donor family, a group of people donating anywhere from $10/month to $200 or more, we covered a year of Olivia’s weekly myofascial therapy for a total impact of $5,000.

“To the donors who made this possible, our family thanks you so much,” Sierra said. “This grant will let us focus more on Olivia instead of on the money and expense of her therapy.”

Olivia will be two in March and is already setting herself apart as a strong, independent woman. “Like Beyonce,” Sierra joked. 

She hasn’t missed a beat yet – and we don’t intend to start that now. If you donated to make this grant possible for Olivia and her family, thank you for changing another life. If you aren’t part of our donor family but want to be, we invite you to sign up for a monthly subscription today and see what a difference your dollars can make. 

$5,000 will change a year of Olivia’s life, and that’s just one example of the impact you can have. Make the world 10% happier, and DONATE HERE.

Olivia T.'s Updates

Check back soon for updates!