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. 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?
There had been and it didn't show anything. We were followed by a genetics team at Seattle Children's and they were throwing everything at this, thinking it was a solvable case. It's compelling from a genetics standpoint to have two affected kids, remarkably similar in their symptoms, one unaffected child and two unaffected parents. They did exome sequencing and there were a couple suspect genes, but none panned out. They were looking for a mutation that was passed on from both Doug and I because if it were passed on by just one of us, all of our children would have it. The fact that we have an unaffected child means it's a recessive mutation and Charlotte and Cooper would have inherited two mutations on the same gene for this to happen. At the time, whole genome sequencing was very expensive and wasn't yet being done clinically and the team at Seattle Children's weren't sure if or how they could interpret the data. I applied to the The National Institute of Health Undiagnosed Disease Network and they accepted us. They did a lot remotely, but we did fly down for clinic visits, they gathered all the information they wanted and they did whole genome sequencing right away. The first couples analysis didn't show anything and they couldn't find anything. About a year and half after they did the initial sequencing, they kept looking at it and thought they found the gene causing the disease. They clinically validated that this mutation was real and they found an academic paper where four siblings were referenced with issues with a similar variant on the same gene. Then they found through gene matching databases where there are two other patients, where we have two of four.
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?
It was devastating when we realized Cooper was affected as well. We wanted to experience development as it's naturally supposed to unfold and we took it for granted with Nash when he hit all the markers. You don't realize what a miracle that is. Charlotte wasn't hitting the marks. She would work so hard to make the tiniest little gains. Instead of milestones, Doug and I called them inchstones and we would celebrate them, but the work we had to do just to make the tiniest bit of developmental gain was really tough. It was tough to try to stay positive and not get discouraged through that, especially when you're still holding out hope that it's just a developmental delay and that everything might catch up. The really tough part is early on when you have a child with an undiagnosed disease and no frame of reference- it's an emotional roller coaster. It's extra complicated when you have no guide book and we wanted to experience that natural miraculous unfolding of human development that's truly a miracle when it happens as it normally should. The idea that we set out to give Nash a typical sibling, someone in the future to share the burden of raising a sibling with significant needs, and then we doubled the burden for him was really devastating.
How is Nash?
He's great! He's an amazing big brother, he's patient, kind and he loves his siblings. He really teaches us some lessons about empathy and kindness. Our house is a revolving door of therapists and caregivers and he doesn't like that and neither do we. I like the support the kids are getting, but we don't have a lot of privacy in our home. Nash is a teenager and he would love to come home from school and we have the house to ourselves and it's just not that way for us. That's tough for Nash. He has friends that are in similar situations as him, so there's some comeratity there.
How do you find your people when you don't have a diagnosis?
I found some good friends through our early intervention program. Boyer was a lifeline for me. They met me and Charlotte right where we were and gave me so much support and hope that I really needed at that point. Nobody was just like Charlotte, but I connected with other parents and shared resources and they just got it with little explanation. I'm still close with a lot of those parents. I also met other parents through school.
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?
You are largely responsible for lighting this fire in me. I read about your podcast, I listened to it and I was so inspired by the fact that you did this. Ford is still little and you're in the early stages of this and you've still managed to mobilize and do this. We have this information about the gene, and about a year ago I did a major push out to create awareness through creating a website, a Facebook group and a video about the kids. I wanted it out there and I wanted it to go viral. It didn't go viral, but we got a lot of nice feedback from people about it. We need to find more people and more patients that have this variance. We're doing that clinically with gene matching sites, but I know there's families out there who haven't had the genetic testing yet or they did, and like us, they didn't see anything. This particular variance is hard to find because it's a deletion and they're harder to find than switches or extra information on the gene. Take a second look and have your provider look again. Almost nothing is known about this gene and it's been overlooked before. We did this big push out, but nothing came of it and it was an exhausting process for me. I knew there were next steps to take, but my personal bandwidth was beaten up by caring for our kids and other things. It was always nagging, so in the last month or two this has been a combination of learning about you, meeting you, getting inspired by you and by rare disease day on February 29th. I got an interview on NPR and I submitted our video to The Rare Disease Film Festival, and our movie about the kids is going to be screened at it on May 18th in New York City.
What are the symptoms that the kids have? What should parents and medical professionals be looking out for?
They have global developmental delay, intellectual disability, an autism diagnosis and autistic-like behaviors, significant language delays, large head size and low muscle tone. Cooper was born with congenital cataracts in both eyes. Charlotte and Cooper both have seizures which developed later.
What would you say to parents getting shoulder shrugs from doctors and other medical professionals who don't have an answer?
Always ask if there's anybody else you should be seeing or if there's anything else this could be. Just keep asking and looking around. Be pushy about it and just keep going.
LINKS AND RESOURCES MENTIONED
The National Institute of Health Undiagnosed Disease Network
The Rare Disease Film Festival
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