However, at six months old, Adalyn was still unable to roll over, and Nikkie became concerned that something was wrong. Her Aunt, an early childhood teacher, shared Nikkie’s concern and encouraged her to see Adalyn’s pediatrician.
Nikkie asked that Adalyn undergo genetic testing to determine if there was some type genetic disorder causing the developmental delays. He refused. Despite her pleas, the pediatrician sent Nikkie and Adalyn home with the pronouncement that babies do not follow all the same timelines for development and that Adalyn would be fine.
After months with no progress—Adalyn still could not roll over at age one—Nikkie returned to the doctor and demanded action. This time, he agreed there was a problem and referred Adalyn to the “Birth to Three” program for physical therapy but still refused genetic testing and declined Nikkie’s request for speech and occupational therapy.
After working with Adalyn, the physical therapist agreed with Nikkie’s view that Adalyn suffered from a genetic disorder and should undergo testing. This prompted yet another visit to the doctor. Though armed with information from her and Kasi’s extensive research, Nikkie felt it best to leave her own opinion out of the matter, and instead, focused on the views of Adalyn’s therapist. Finally, the doctor agreed to send Adalyn to Milwaukee for genetic testing.
The conclusion from the testing in Milwaukee was Autism.
Kasi, also convinced that Autism was only part of the problem, continued her search for a diagnosis for Ragan and came to the conclusion that the girls had “Pitt Hopkins Syndrome (PTHS).” Nikkie had never heard of Pitt Hopkins before. No wonder, PTHS is a very rare genetic disorder affecting a specific gene in chromosome 18 called TCF4. There are less than 300 people diagnosed with PTHS in the entire world. PTHS was first described in 1978, but the connection to TCF4 was not established until 2007.
Adalyn received a full panel of genetic tests at the Waisman Center in Madison, and after 18 weeks of anxious waiting, Adalyn was indeed diagnosed with Pitt Hopkins Syndrome. As the moms suspected, Ragan had PTHS as well.
The diagnosis was a relief for Nikkie in that there was finally an answer. And, even better, there was a foundation doing research. The Pitt Hopkins Research Foundation supports research dedicated to finding a treatment and eventual cure of Pitt Hopkins Syndrome and other similar disorders. The PHRF is also dedicated to supporting the Pitt Hopkins community with resource recommendations, parental support and the latest medical information.
In addition to the support Nikkie has received through the Foundation, she has also been getting support from Independent Disability Services, Inc. (IDS) through their Respite Program. IDS has been providing financial support to the Chadwick family for two years. The funds from IDS help with the financial burden of hiring in-home care for Adalyn when Nikkie and Brian are at work. The money also provides husband and wife some time for themselves.
“You cannot believe what a treat it is to go to Walmart, or Menards, or to restaurant for a few hours,” said Nikkie. “You take little trips like that for granted.”
In 2013, Nikkie raised $14,660 dollars for the Foundation selling T-shirts for the first Pitt Hopkins Syndrome Awareness Day on September 18th. She also serves on their Board of Directors.
“I wanted to join the Board so I could be more knowledgeable about the research being done. I want to know what’s new in treatments and research, and I will do what whatever I can to help raise funds for the Foundation’s work,” said Nikkie. “I believe they will find a way to fix this.”
For more information about Adalyn’s story, visit her facebook page at “Adalyn’s Adventures with ABA Therapy and Pitt Hopkins Syndrome.” For more information about the Pitt Hopkins Research Foundation, visit www.pitthopkins.org.
To make a donation to the IDS Respite Program, please call Lisa Ames at 608.754.5552.