Approximately 20 percent of proceeds from sales during the “dough raising” will go toward the Foundation, which uses 100 percent of its proceeds to pay for research.

Recently Adalyn was diagnosed with Pitt Hopkins Syndrome, one of the rarest conditions in the world. She is the daughter of Brian and Nicole Chadwick and sister of 14-year-old Austin.

“There are less than 250 cases reported worldwide and only 100 cases in the U.S.,” her mom, Nicole, said.

Pitt Hopkins Syndrome (or PTHS) is a neurodevelopmental disorder. Even though the cause of PTHS is known, there are currently no pharmaceutical treatments available for this disorder. The Pitt Hopkins Foundation is committed to accelerating progress toward effective treatments and ultimately a cure for PTHS, by directly funding the most promising research, according to its website at www.http://pitthopkins.org.

In children with PTHS a change in the TCF4 gene on chromosome 18 can be present. TCF4 is an important gene because it codes for the protein TCF4, which is very important for the development of the brain.

Nicole said Pitt Hopkins Syndrome was only discovered in 1978, and is only a blood test available to confirm the diagnosis.

People with Pitt-Hopkins syndrome have intellectual disabilities and developmental delays. Most affected individuals do not learn to walk unassisted and people with this condition typically do not develop speech or may learn just a few words, according to the National Institutes of Health.

Although Adalyn’s family knows about her condition now, for years they tried to figure out what was challenging her. Adalyn didn’t walk until she was three-and-half, and still doesn’t talk.

When she was six months old, her mother was concerned her daughter wasn’t hitting any milestones. She brought up her concerns to doctors, who would just tell her kids develop differently. Finally, the family went to Milwaukee Children’s Hospital where Adalyn was given a diagnosis of autism and began therapy.

However, her mother still felt the diagnosis wasn’t accurate. She began watching hundreds of UTube videos about a variety of conditions. She saw one little girl named Ragan who reminded her of Adalyn. Nicole contacted Ragan’s mom Kasi Thursby in Florida and the two compared notes.

Neither mother could figure out what their daughter was suffering from, but believed the two had the same condition. One night on the phone, they pulled out their daughters’ lab reports and realized they were pretty much identical.

In December Nicole learned about Pitt Hopkins Syndrome and each mom went to the geneticist with their daughter. Although their specialists had never heard of the condition both girls ended up being diagnosed after a blood test for the condition. Both girls have a mutation on the TCF4 gene, on chromosome 18.

Because the condition is so rare, Nicole said the Foundation has few people working to fundraise, although it only took a few families to raise thousands of dollars. She said the Foundation has raised about $400,000, a good start to starting on study on the condition. In 10 years it’s likely there will be more treatment options available.

Although there are only 250 cases worldwide, there are likely many other children who have the disorder and have been given the diagnosis of autism.

Despite Adalyn’s strugglers her mother said she’s relieved to finally have some answers. She’s joined an international support group online and have made mew friends with other parents of children with the condition.

This weekend the family will be attending a 5K race in Michigan for another girl with the condition. They hope to start hosting more fundraisers to help the Foundation and to raise awareness about the condition.

Today Adalyn is a happy and smiley girl. She attends the Beloit Early Learning Center. There is a Facebook page on Adalyn if people want to follow her progress and learn more about Pitt Hopkins Syndrome.