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Episode Summary
Rare Disease Day raises awareness and informs the general public of the impact of rare diseases. It also offers an opportunity to campaign for decision-makers to address the needs of those living with rare diseases.
At mdgroup, we are committed to supporting patients with rare diseases and their families to access potentially life-changing clinical trials.
Episode 12 is a very special edition of mdtalk. Host LaQuinta Jernigan, Chief Operating Officer at mdgroup, is joined by Jennifer Kinnebrew, Shaniece Goodlow, and Maggie Settlemire. These incredible women have kindly agreed to join us to discuss their experiences of having children with rare diseases and how we can advocate better care for everyone.
Jennifer joined us at mdgroup in 2021. Her son Nathan, now 7, was diagnosed as an infant with Bilateral Optic Nerve Colobomas, a rare disease that affects his sight, and other rare ocular conditions, most notably Retinoschisis.
Shaniece is a school psychologist in Chicago. Her daughter, Maddie, was diagnosed with sickle cell disease, which affects how red blood cells are shaped, causing blood to have difficulty flowing through the body.
After newborn screening, Maggie’s daughter Emmy was diagnosed with PKU (Phenylketonuria). PKU is a rare disease that affects amino acid metabolism. Maggie now encourages rare disease families to find communities they can depend on for support.
Before we start the conversation, did you know:
- The Orphan Drug Act defines a rare disease as a disease or condition that impacts fewer than 200,000 people in the U.S.
- 1 in 17 people will be affected by a rare disease at some point.
- There are 300 million people with rare diseases worldwide.
- As of 2021, only 5% of rare diseases had an approved therapy.
The challenges of living with rare diseases
As if caring for a child with a rare disease wasn’t challenging enough, the group discussed several additional struggles they encountered on their rare disease journey.
Access to healthcare
Finding appropriate medical support for a rare disease is a huge challenge. The right medical expertise is often as rare as the disease, which can sometimes lead to an initial misdiagnosis. The rarity of the care can also lead to long waits before being seen by the right clinician.
Jen: “Nathan’s initial early diagnosis, at eight weeks old, was by a doctor who correctly identified that he was suffering from Bilateral Optic Nerve Coloboma but got the location of the Colobomas wrong. This had a huge impact on us emotionally, as this initial incorrect prognosis was, in fact, a lot more severe than Nathan was going to experience.
“We finally found a specialist, who is fortunately only based an hour away. But he was in such high demand that we had to wait eight weeks for an appointment.”
Although Jen was lucky when it came to the location of the specialist, geographical access can be a struggle, with the right care often being a long way away.
The stress of accessing relevant medical care, the mental load of a potential misdiagnosis, and having to wait months for an appointment in a town or city many miles away, are impossible to measure. Still, it’s undoubtedly one of the biggest challenges facing families with rare diseases.
Navigating healthcare insurance
The lack of clarity when navigating US-based healthcare insurance was cited by all participants as a real challenge.
The National Organisation of Rare Diseases can help navigate health insurance and support getting extended coverage for conditions.
Guilt
Shaniece: “The ‘mom guilt’ was a real factor in how we initially struggled with Maddie’s diagnosis. Even though none of our family suffers from sickle cell disease, the fact it’s an inherited condition meant we looked to ourselves in the beginning.”
Finding communities
If it takes a village to raise a child, it takes a whole town to support children with additional needs. All mdtalk participants agreed that finding a community that understood what they were going through had been invaluable.
Our guests agreed that from Facebook communities made up of families with the same condition to the National Organisation of Rare Diseases, accessing emotional and practical support and advice had helped enormously.
Maggie: “Emmy has a metabolic condition, so finding advice and recipes online to create meals that look and taste similar to the rest of the family’s, or indeed, ideas for just one meal I can cook for the whole family, has been a real help.”
Time
All mdtalk participants agreed that finding the time needed to locate and access the right healthcare, getting to grips with the practical and emotional implications of living with a rare disease, and then securing the right ongoing healthcare and support took a lot of time. Time that Maggie, Shaniece, and Jen just didn’t have.
Maggie: “The importance of a community that understands you and has been through a similar experience cannot be understated here. Expanding your ‘village’ allows you to reach out for ideas, advice, and support to find shortcuts and save time.”
Specific challenges in educational settings
As children with rare diseases grow, more challenges in ensuring they get the right care can arise when they reach a school or nursery setting.
LaQuinta spoke to Jen and Shaniece about navigating the educational system when you have a child with a rare disease.
Fight for inclusion
It is the educational institution’s responsibility to ensure fair and equal access to education for a child with a rare disease. However, ensuring that child enjoys the same shared learning experience as their classmates can often be difficult.
Inclusion, bonding with classmates, and developing friendships are as important to a child’s growth as their academic learning. Ensure that when creating educational plans with your school or daycare establishment, your child’s shared learning experience is discussed.
Find your advocates
Finding someone to support you, to turn to for advice, and potentially to accompany you to meetings with the school is important.
The process can be overwhelming and hugely emotional, so having a more objective or experienced advocate with you to help fight your corner and ask difficult questions will be invaluable. Ask your online communities, relevant charities, and rare disease organisations for help finding someone to accompany and represent you and your family at school.
Do your homework
Funding is low for equipment and support for children with additional educational needs. Hence, all too often, parents have to fight to understand what support and resources are available and how to access them when a child needs them.
To overcome this challenge, all participants emphasised the importance of researching what to ask for to support a child’s needs and planning for any meetings with the school in advance.
Putting requests in writing to schools to formalise any process, drafting lists of what to ask for and questions to ask in advance, and taking notes during meetings so nothing is forgotten all seem like obvious points, but can be overlooked.
How can we all work together to achieve equitable healthcare?
Accountability for global health equity doesn’t just lie with the medical profession. We can all play a part in moving society towards a fairer and more understanding healthcare environment.
Understanding and acceptance
Jen: “We need to teach our kids to accept and understand those who may be different or have different needs. Different is fine!”
Community building
Shaniece: “Community is everything! Connections promote greater understanding, help you find the support you need, and can offer invaluable support. Be there for each other”
Education and awareness
Accessing accurate information in a timely manner ensures expectations are managed, and sharing your journey supports others living with rare diseases.
Maggie: “Good information enables informed and caring conversations.”
Although we’ve recorded this episode of mdtalk because of Rare Disease Day, conversations about rare diseases can’t just happen once a year. So let’s keep the conversation going. Share your photos, videos, and experiences with us on Twitter at @mdgroupintl or find us on LinkedIn by searching mdgroup.
You can also head to rarediseaseday.org for more information.
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