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Turning the tide for rare disease

A mother’s mission to raise awareness of Bardet-Biedl syndrome and promote effective partnerships between carers and medical professionals

Molly D’Angelo, mother to three boys, is a parent advocate for her youngest son, six-year-old Joshua, who was diagnosed at five with Bardet-Biedl syndrome (BBS)—an extremely rare genetic disorder. We spoke with Molly to learn about her mission to raise awareness of BBS and promote effective communication and collaboration between carers and medics

By Charlotte Cooper

“My advocacy has really been an evolution. I don’t think there was one starting point; it’s just been me fighting for my child, which turned into me feeling like I have a purpose: to spread the word about this disorder and help other parents get the answers they need. I worked tirelessly for more than five years seeking answers for our boy. I don’t want it to be that challenging for others.” – Molly D’Angelo

How Joshua’s journey began

Joshua was born at a healthy weight of 8lb 2oz; however, he very quickly started gaining an extraordinary amount of weight, leaving Molly and healthcare professionals puzzled: “His chart went right up from the moment he was born. It stated he was obese,” Molly explains.

“We knew something was going on with Joshua from the start. We repeatedly stated our concerns at every monthly check-up, asking if they knew what was happening and if there were any tests we could do. But we were just being given the wait and see what happens response from all the primary care physicians. It became very frustrating.”

Molly says that the dismissal she felt from Joshua’s care team made her question herself: “As a mom, you start thinking—is this in my head? is there really something going on? what’s the right thing to do?”

Joshua was 10 months old by the time paediatricians gave his symptoms proper attention. Even then, Molly was disappointed by the time frame it took for them to take action. Molly says the lack of willingness from certain healthcare professionals to dig deeper to find answers kick-started her advocacy journey: “We need to shift the mindset of doctors so that they explore symptoms more deeply.”

Sharing Joshua’s story and embarking on an advocacy journey

Molly says she first began sharing Joshua’s story on social media when he was one: “I posted what was going on with Joshua, and it snowballed from there.” 

Molly became a member of various Facebook support groups for parents who were seeing similar symptoms and looking for answers: “There’s a couple of groups that are primarily for parents, caregivers or individuals that have characteristics that look like a rare genetic disorder of obesity,” Molly explains, “that’s where I started.

”After meeting other parents who were in similar situations to herself, Molly began doing her own research, connecting the dots by comparing his symptoms to disorders she was learning about. Through this research, Molly was pretty certain that BBS best described Joshua’s symptoms before he was given an official diagnosis.

An official diagnosis of BBS

In April 2021, in the hope of finally getting a diagnosis, Molly took Joshua to the Marshfield Clinic in Wisconsin, where they attended 19 appointments in just four days. “We left without a diagnosis, but it came in the mail in June. I didn’t believe my eyes when I saw it! I emailed the letter to Joshua’s wonderful primary care doctor, and she called to confirm it. Then my husband and I just let it sink in. It was overwhelming and freeing—we had worked for so long to find answers. Now, we know our instincts all that time were valid.”

Molly has since joined different forums for BBS and established herself on various media channels to help promote her advocacy efforts. She frequently receives messages from other carers: “Many, many moms have reached out to me on Instagram and spoken about their child with a similar condition or said oh my goodness, my baby looks so much like Joshua: what do you recommend? where should I start? what questions should I ask my doctor?’ It’s been very overwhelming, but really motivating.”

Now Joshua is taken seriously with his official diagnosis, Molly is finally happy with the care team Joshua has. “We live in Michigan, and we are lucky that we only have to travel one state over to Marshfield Clinic—there’s an incredible medical team there.”

Molly says the medical team in Wisconsin helped to inform the care Joshua now receives in his hometown: “their treatment recommendations have been implemented here with us in Michigan, and that’s what we needed. Before that, the doctors here had no idea how to treat Joshua.”

Looking to the future

Molly’s mission for the BBS community involves awareness-raising for healthcare professionals and education for caregivers. Her hope is that bringing awareness to BBS will help those seeking a diagnosis and enable clinicians to guide their patients effectively. She wants to break through the stigma around obesity and help people understand there may be medical reasons for it: “Many people today still believe that personal eating habits are the only cause. That misconception may prevent individuals from getting the help that is now available.”

“People don’t know these conditions exist or that there are tests out there for them. We need to spread awareness with clinicians on the front line to get tests done so families get the answers they need.”

Molly shares her observations about the communication between caregivers and medics: “I’m noticing how most caregivers are overwhelmed and don’t know how to ask for more from paediatricians and other doctors without getting anxious, pushy or aggressive, which consequently causes the doctors to cut them off.” To change this, Molly feels caregivers need educating about how to best approach medics so they don’t become defensive. Then, everybody at an appointment can leave satisfied that there is a clear and agreed action plan in place. Molly recommends caregivers prepare for appointments by writing notes and questions; this helps improve communication and stops healthcare professionals creating barriers to extended or specialist healthcare services.

“There are always going to be some medical professionals who don’t respond well to being questioned, but for the most part, if we can separate our emotions and raise our concerns in a professional, kind and human way to another human, then they’re going to respond better and want to help.”

Molly has connections with other rare disease advocates who have progressed from supporting patients to working with rare disease researchers to find treatments and potential cures. Having observed how advocates and researchers collaborate, Molly is keen to explore a research avenue for BBS in the future.

Molly’s advice to other parents and caregivers

Molly is passionate about parents and caregivers finding their voice and not taking no for an answer when medical professionals refuse to dig deeper for answers: “Don’t give up on your instincts. If you think something is going on with your child, there probably is.” Molly also wants caregivers to remember to look after themselves and prioritise self-care, for their benefit and their child’s.

Molly says talking to other caregivers in social media forums gives her amazing emotional support and calls it her source of therapy: “Talking with others is so beneficial and fulfilling to me. I am incredibly honoured and glad to be in this advocacy role.”

A note from Rare Revolution

We are grateful to Molly for giving us her time to remind us about how a parent’s voice has the power to drive a rare diagnosis and then tailor local healthcare to a child’s medical needs. We look forward to seeing Molly turn the tide for more caregivers who have children with rare genetic disorders, through enhancing healthcare education and awareness and promoting the importance of effective communication between medics and carers.

Links

bardetbiedl.org/what-is-bbs

msha.ke/mollyedangelo


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