ONCE UPON A GENE - EPISODE 024

CHOOSING HOPE

Jill Hawkins is a parent advocate and mom to three children, two of which share the same variant on the FAM177A1 gene. This undiagnosed disease is believed to be the cause of our kiddo's disabilities and her family is on a mission to find others and get more answers. Like many of the parents in this rare world, Jill has found whatever free sliver of time in her days or nights to search for others with the same genetic variant or someone studying it. Parents like her really impress and inspire me with their passion and drive. I urge you to share this information with others so someone, somewhere can find her and help provide more answers.

EPISODE HIGHLIGHTS

Tell me a little bit about your family.

My husband Doug and I have three kids, a 16 year old boy named Nash, a 15 year old girl named Charlotte and 9 year old son named Cooper. Charlotte and Cooper have an ultra rare genetic disease that we're still in the final process of officially diagnosing. Nash is developing typically. We have challenges around Charlotte and Cooper's disease, but we are a fun-loving family.

Tell me about the gene mutation Charlotte and Cooper both share. 

They have a loss of function of their FAM177A1 gene. Their deletion was found on whole genome sequencing about a year and a half ago when Charlotte was 13 1/2 years old and Cooper was 7 1/2 years old. We had Charlotte and she was a healthy baby, I had a normal pregnancy, but right away she started losing ground developmentally. She kept missing all of her developmental milestones, she was very floppy. Her first diagnosis was hypertonia and we started early intervention at about 6 months old with physical therapy. She had a large head size that was something that stood out about her. As time passed, she kept falling further and further behind. We started doing really specific genetic testing to rule out some known disorders and they all came back negative. We continued to search for what this was. The thought was that she had a novel or de novo mutation and that it wasn't going to happen again, that we weren't any more likely than any other family to have another child affected by this or any other genetic disorder. We decided to have a third child and we wanted to give Nash a typical sibling and we had Cooper. I had another normal pregnancy, normal delivery and healthy baby. Sooner than we suspected something wasn't right with Charlotte, we suspected something wasn't right with Cooper. Because Charlotte was undiagnosed, we didn't have anything to look for so we hoped for the best and started therapy early. After a year, it was very likely that Cooper and Charlotte shared the same disease- we just didn't know what that was. It wasn't until quite recently that we think we figured it out.

Why hadn't there been a whole exome or whole genome test run on Charlotte sooner?

What was it like going through the emotional process, stress, anxiety and grief stages of finding out that something was wrong with Charlotte and then having it happen again with Cooper?

How is Nash?

How do you find your people when you don't have a diagnosis?

You seem to have a sense of urgency to get this information out, to find a diagnosis and find community. Has a fire been lit recently or have you always been doing this?

What are the symptoms that the kids have? What should parents and medical professionals be looking out for?

What would you say to parents getting shoulder shrugs from doctors and other medical professionals who don't have an answer?

LINKS AND RESOURCES MENTIONED

The National Institute of Health Undiagnosed Disease Network

Sibshops

Boyer Children's Clinic 

NPR Interview

The Rare Disease Film Festival

Findmygeneticvariant.com

fam177a1.com/ 

FAM177A1 Facebook Page

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