On May 6, 2013 at 9:06 am, beautiful baby, Quinn Elizabeth, entered this world. After 13 hours of labor, everyone finally got to the meet the angel we had all been waiting to meet for 9 months. She was the most beautiful baby we could ever imagine and brought tears of joy to everyone's eyes in the delivery room. Quinn's mommy had an uneventful pregnancy, and in fact, her mommy, Colleen, and daddy,
Jeff, traveled all over the country before she was born. She was lucky enough to tag along to the Grand Canyon, Maryland, Charleston, SC (one of her Mommy and Daddy's favorite cities), and Boston to attend a Red Sox game and sit on the Green Monstah! She also ran four half marathons with her Mommy and Daddy in St. Louis, Savannah, Miami, and Las Vegas. After three days of being in the hospital, Quinn was able to go home, and the Schiro's began their adventure as a family of three. Quinn was never a veracious eater from the start. Her first pediatrician didn't seem to think it was a problem and constantly told her mom that some babies just don't eat as much as others. Quinn also began to vomit and arch her back in discomfort. The arching seemed to be consistent with Quinn's feedings, so Jeff and Colleen along with the doctors seemed to think it was just your typical case of reflux. After 7 weeks, Quinn was still not eating as much as she needed too to grow and gain weight. Colleen knew something wasn't right and found a wonderful new pediatrician to get a second opinion. At 8 weeks old, Quinn was admitted to the hospital for "Failure to Thrive." The new pediatrician was very concerned and wanted some tests run. Quinn was in the hospital for 11 days with numerous test performed, and unfortunately, Quinn and her parents went home with no answers. Every test conducted on Quinn came back normal and she was quickly becoming the mystery patient. Quinn was also sent home with a feeding tube through her nose to her stomach to help her consume the amount of formula necessary for her to grow. A month later, Quinn was back in the hospital for another 15 days due to her vomiting, which had gotten worse. So again, all kinds of tests were run. This time a repeat MRI was performed because Quinn's head was not growing. The neuroradiologist that read the MRI suggested she had an underdeveloped brain, but still no diagnosis. Some doctors were still stumped while others were speculating she possibly had a metabolic disease. Clinically she fit the symptoms of having a metabolic disease. So again Quinn left the hospital with no answers and many follow-up appointments. On an out patient basis Quinn was seeing GI, neurology, cardiology, nephrology, opthamology, and genetics. In September of 2013, Jeff, Colleen and Quinn met with their geneticist. The geneticist suggested we do the most extensive test they had to offer in the field of genetics, called Whole Exome Sequencing. After 5 months of waiting, the tests results came on January 27, 2014... a day we will never forget. Our precious little baby was diagnosed with Pontocerebellar Hypoplasia (PCH). PCH is a very rare brain disease that affects the development of the brain. There is no cure for this disease. Unfortunately, the prognosis is not good and children with this disease do not live past early childhood. Pontocerebellar Hypoplasia has several different subtypes. Based on Quinn's genetic mutation from the genetic testing, she has either type 2a or 4. Colleen and Jeff are hoping to get in touch with a specialist in the next few weeks to give them a more difinitive diagnosis. So, with all that being said, Quinn's mom, Colleen, wanted to create this page for a few different reasons. First, Quinn has so many people out there praying for her and wondering how she is doing. Now all of her prayer warriors can follow her and receive her updates on Facebook. The second reason is to raise awareness of Quinn's disease, Pontocerebellar Hypoplasia. It is so rare that the majority of people have never heard of it and it is speculated to be misdiagnosed for many patients. Hopefully someday, somewhere, someone reading this will be inspired to find a cure for PCH so no other child or family has to endure what Quinn and her family are going through. Finally, and most importantly, Jeff and Colleen want to make sure Quinn lives the best life. Everyday spent with Quinn is a blessing, and they want her to be able to accomplish and experience as much as she can in her short, yet wonderful life. Colleen and Jeff have already begun Quinn's actual bucket list and hope to accomplish so much more! Please feel free to email Quinn (or her mom- CJFeeney345@gmail.com) with any ideas/suggestions you wish to add to her bucket list!
