As originally reported in Mercer Island Reporter, Jill Hawkins’s three births went smoothly. Her eldest reached expected milestones and began to walk and talk. Her daughter, born four years later, had a similarly smooth pregnancy and birth, but soon after birth, they realized she lagged behind in the first developmental milestones. Jill and husband Doug sought a medical explanation, weren’t getting any answers. They were told the same circumstances wouldn’t pose a risk for another pregnancy. However, their third birth followed the pattern that had happened to their daughter. The youngest, Cooper, displayed the same unexplained delays affecting his development and he experienced seizures, sleeping issues, muscle tone changes, and behavioral issues. They were told it must be genetic because of the siblings’ parallel experiences, but the doctors couldn’t come to a more specific conclusion.
The family sought out the full range of specialists. They had some genes on the table as possible culprits: LAMA5, NSD1, and EZH2, but they never garnered more evidence of this, and each was eventually ruled out. Lacking a precise diagnosis is an issue because this is often the first step at accessing suitable treatment options. A diagnosis allows a patient and their family to tap into a wider circle of shared experiences that may already have research and answers developed. A mystery disease is all on its own.
Whole Genome Sequencing Reveals Answers
In 2016, hope was reawakened when the children were accepted to be subjects of study by the National Institute of Health’s Undiagnosed Diseases Network (NIH-UDN). The program, housed at Stanford University, is equipped with technology that performs whole genome sequencing, the most specific read of the patients genetic code. The depth of the investigation provided by multiple takes by the researchers led the team to find a mutation the two shared: a variation on the FAM177A1 gene such that it cannot perform its function. Though they have found evidence of the deletions which disable the gene, there is little understanding of the specifics of this particular gene due to the extreme rarity of this mutation.
Receiving A Diagnosis
Armed with the specific gene identified, the family were connected to the tiny community found to share the disorder, limited to one other patient and evidence in a journal article of four siblings all displaying similar symptoms and genetic variation. Jill described her joy when she found out there were others out there sharing her children’s health story:
“I got the chills. I started to weep,” Hawkins said to Mercer Island Reporter. “I was so excited to know others like Charlotte and Cooper were out there.”
The family has made undiagnosed and ultra-rare disease awareness a mission after the long journey they went through. After the loneliness of the phase without a specific disease attached, they find it important to sew a community between these experiences so that not belonging to a category can feel like a category itself.
For more information on undiagnosed diseases, click here.
