SPRINGDALE, Ark. (KNWA/KFTA) — Seven years went by before the Thompsons had a name for their son Dash’s diagnosis, but through all the unknowns, pediatric doctors with Arkansas Children’s were there for the family.
He was hospitalized at ACH for 33 days, 16 of which he was hooked up to a ventilator.
During that time, doctors noticed there were some odd things happening with the newborn.
“His head was growing rapidly, along with his abdomen,” Dash’s mother Michael Ann continued, “that’s when the doctor there decided that we should probably start doing some genetic testing.”
Initial DNA testing, according to Michael Ann, came back completely normal.
“We still knew that it was probably genetic, it just wasn’t something that was discovered yet,” Michael Ann said.
For the next several years, Dash was seen by specialist after specialist at ACH.
Michael Ann said, “everything with Dash has been kind of like a puzzle. You know, nothing was easy to find… It took digging for everything. It took a doctor saying I don’t think this is quite right.”
It’s that digging, Michael Ann said, that ultimately led to a diagnosis for her son.
When it was noticed he wasn’t meeting developmental milestones, in November 2018 Dash’s DNA was reanalyzed.
By January 2019 his mystery illness had a name, Basilicata-Akhtar syndrome.
“Whenever he was diagnosed, he was the 17th in the world that was diagnosed with this syndrome.”Michael Ann
The National Center for Biotechnology Information describes Basilicata-Akhtar syndrome as a “global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech.”
According to the NCBI, the syndrome can cause dysmorphic facial features and mild distal skeletal anomalies.
Michael Ann said this discovery was all about timing. “If we would have run his DNA any sooner, we wouldn’t have gotten a match.”
That’s because Basilicata-Akhtar syndrome wasn’t discovered until September 2018.
Even though the family went so long without an official diagnosis, Arkansas pediatric doctors were there for Dash along the way.
“During that time, those 7 years we didn’t have the genetic diagnosis, we were caring for all of these other issues,” Michael Ann said.
Until Arkansas Children’s Northwest opened in Springdale in 2018, the Thompsons would drive from Northwest Arkansas to Little Rock for regular appointments. Now, for the most part, his specialists travel from ACH to come see him at ACNW.
While some might describe the unknowns the Thompsons battled for so many years as nearly unmanageable, Michael Ann said, “I feel lucky that we’ve been put in the position that we have.”
She said that being able to help other families who’re also living in limbo, makes their confusing journey worth it.
“All of the research that they have done at Arkansas Children’s hospital has really been extraordinarily helpful for the families that we’ve come into contact with to be able to share the things that we’ve found,” Michael Ann said.
As part of the annual Give Kids a Miracle Telethon, KNWA/ FOX24 and America’s Car-Mart are raising money for Arkansas Children’s Northwest to benefit kids, like Dash.
Donations can be made by texting ACNW to 51555 or by visiting the website located here from now until March 4.