Tag Archive for: NORD

Healthcare and Genetic Testing

Leading up to the NORD’s Rare Diseases and Orphan Products Breakthrough Summit on October 18 – 19, we interviewed NORD’s Director of Policy, Heidi Ross.

Please tell us about yourself and your work at NORD

My name is Heidi Ross, and I am the Director of Policy at the National Organization for Rare Disorders (NORD). My job at NORD involves working at the state and federal level to ensure laws are in place so patients have access to affordable, quality health care coverage, including necessary health care providers, diagnostics, and treatments. I love getting to work with policy makers and advocates to ensure our health care system is meeting the needs of rare disease patients.

What is genetic testing and how does it impact people with a rare disease?

According to the National Institutes of Health (NIH), there are an estimated 7,000 rare diseases and 2/3 of rare diseases are thought to be directly caused by changes in genes or chromosomes. Additionally, it takes on average 5-7 years for rare disease patients to get an accurate diagnosis. There are a lot of different types of genetic tests. Some tests only look for variations in one gene, but other genetic tests are more complex and can look at the entire genome for changes. For some rare disease patients genetic testing can be a useful tool for obtaining an accurate diagnosis and can assist health care providers in determining an appropriate treatment plan.

How can someone with a rare disease access genetic testing?

Patients should consult with their health care provider to determine if genetic testing would be helpful in the diagnosis of their condition.

How is genetic testing impacting health care costs for people with a rare disease?

The costs associated with genetic testing vary significantly, as does the out-of-pocket expenses for patients, depending on the type of genetic testing being conducted and the type of health care program or insurance a patient utilizes. However, the costs associated with a long diagnostic odyssey can also be significant for patients and the broader health care system, as patients suffer though unnecessary or unhelpful tests, treatments, or hospitalizations. The uncertainty can also take a significant toll on the mental health of patients and their loved ones.

Can you tell us more about the Healthcare System Savings with Genetic Testing breakout session?

This break out session is focused on Project Baby Bear, which was a $2 million pilot project to provide rapid whole genome testing to ill newborns eligible for care under California’s Medicaid program, Medi-Cal. We have an amazing panel, including the state legislator, Assemblyman Brian Maienschein, who championed the creation of Project Baby Bear, Dr. David Dimmock from Rady Children’s Hospital, which was one of five hospitals who participated in the pilot, and Ms. Christy Moore from Blue Shield of California, which has expanded coverage of rapid whole genome sequencing for their plan participants.

According to the final report on Project Baby Bear:

“The pilot project to expand access to rapid whole genome sequencing provided diagnoses for 76 babies, led to a change in the management of 55 babies that resulted in fewer hospital days, fewer procedures or new therapies, and diagnosed 35 rare conditions that occur in less than one in one million births. In addition, the project reduced healthcare costs and downstream spending, primarily by empowering doctors to eliminate unnecessary procedures and discharge babies sooner, resulting in an estimated $2.5 million in health care savings.

For patients specifically, access to the results of rapid whole genome sequencing through Project Baby Bear led to 513 fewer days in the hospital, 11 fewer major surgeries and 16 fewer invasive diagnostic tests.”

As a result of Project Baby Bear, the insurer Blue Shield of California is now providing coverage for rapid and ultra-rapid sequencing of babies and children who have life-threatening and unexplained medical conditions. Furthermore, this year, California’s budget included significant funding for a whole genome sequencing benefit for Medi-Cal eligible children. Attend the session on Monday, October 18 to learn more about this incredible pilot program.

What are looking for to the most during the Rare Diseases and Orphan Products Breakthrough Summit?

The variety of panels and the expertise of the various speakers makes for a compelling Summit, even in a virtual setting. It is always exciting to learn more about the research and development of new diagnostics and treatments for rare diseases, because I know the hope that they give to many rare disease patients. The Summit is also a great chance to learn about rare disease challenges and opportunities and what they mean for public policy, both now and in the future. Registration is still open! We hope to see you next week.

Interview with NORD’s Rebecca Aune

Leading up to the Living Rare, Living Stronger NORD Patient and Family Forum on June 26th – June 27th, we interviewed NORD’s Director of Education Programs, Rebecca Aune.

1. Please tell us about yourself and your work at NORD.

My name is Rebecca Aune, and I am the Director of Education Programs at the National Organization for Rare Disorders (NORD). I lead the Educational Initiatives department, which oversees NORD’s education programs for health care professionals, patients and caregivers, and the Students for Rare network.

2. What specific challenges do you see that affect patients in the rare disease community?

Millions of people living with rare disease are currently on or have lived through a long and arduous diagnostic odyssey to get to an accurate diagnosis and “name the beast.” Identifying a specialist that understands one’s rare condition, research being conducted to better understand it, available treatments and treatment guidelines if there are any, and who will help make appropriate referrals for other care and services can also be challenging and overwhelming.

3. What can be done to overcome these challenges?

Educating patients and caregivers to be their own advocates, to know their rights, and be part of decision-making process alongside their care team can help rare patients overcome these challenges.  Weathering these challenges also requires taking care of both mental and physical health and finding a support system, which are key components to our work at NORD to help those affected by rare disease live their best lives while we fight for better treatments and cures.

Simultaneously, we provide accredited continuing medical education to equip health care professionals and trainees with the information they need to shorten the timeline to diagnosis and improve patient outcomes. Reducing and overcoming these challenges requires a whole-of-community approach.

4. What are some resources available to help patients impacted by a rare disease?

NORD is an umbrella organization with more than 330 member organizations advocating for communities of people living with rare conditions. A newly diagnosed patient may not be aware that there is already an organization working on their behalf alongside NORD, and connecting with others living with one’s rare disease can be a great starting point.

NORD has reliable reports written by experts explaining rare diseases available on our website. Additionally, for many conditions, we have a short video explaining the disease in the NORD Rare Disease Video Library. We also have a host of webinar recordings on a variety of educational topics available on-demand.

The Living Rare, Living Stronger NORD Patient and Family Forum offers a full weekend of opportunities to meet and learn from others living with rare diseases who will discuss a variety of topics, participate in wellness activities, join a discussion group to chat with others, and tune in to the Rare Impact Awards show to celebrate leaders in the rare disease community.

5. What do you wish everyone knew about rare diseases?

While each disease classified as “rare” may affect fewer than 200,000 people in the United States and some diseases are considered “ultrarare,” collectively, rare diseases are not rare! It is estimated that more than 25 million people are living with a rare condition in the United States alone. We all seem to know someone living with a rare cancer, or spina bifida, or multiple sclerosis, or narcolepsy, or restless legs syndrome, or have heard of Duchenne muscular dystrophy. Community support and awareness are critical to the present and future of the rare community.

6. What are you looking forward to the most during the 2021 Living Rare, Living Stronger NORD Patient and Family Forum?

We have a stellar faculty of speakers that came together to discuss relevant issues affecting the rare disease community, including parenting a child with a rare disease; aging with a rare disease; working while living with a rare disease; navigating health insurance, social security disability and patient assistance programs; getting involved in rare disease research, and more. I think the content offers variety and a little something for everyone. As well as education, the Forum offers entertainment beginning with a kickoff concert by Red Grammer on Friday, June 25 and closing with a Broadway performance during the Rare Impact Awards on Monday, June 28.

7. How can people register to attend the Forum, and when is the last day to register?

People can register for Living Rare, Living Stronger NORD Patient and Family Forum featuring the Rare Impact Awards by visiting https://rarediseases.org/living-rare-forum. The kickoff concert is on Friday, June 26, and programming begins on Saturday, June 27. However, if you cannot attend the conference live, you can register and access the content on-demand for an additional 30 days after the forum.

8. What will attendees learn about and experience at the event?

Attendees will be experience general sessions on a variety of topics, including building resilience, the sibling experience, examples of patients partnering with health care professionals in their care, and an opportunity to hear about cutting edge research being conducted in rare disease. Additionally, attendees will be able to select to attend breakout sessions according to their interests. Wellness activities such as a meditation sound bath and chair yoga will be offered, as well as kids’ activities each day provided through Project Sunshine’s TelePlay program. Also, participants can tune in with their family and friends to entertainment opportunities such as the kickoff concert by Red Grammer and the Rare Impact Awards show. The forum is open to interested members of the press as well.

9. Are there opportunities to meet and connect with other rare patients and caregivers?

A variety of live discussion group opportunities will be offered where attendees can go meet others and discuss topics such as getting involved in rare disease advocacy, living undiagnosed, rare despair and bereavement, being the parent of a newly diagnosed pediatric patient, being a teen living with rare disease, and much more. Attendees can meet other members of the rare disease community in one-on-one meetings on the conference web platform. Kids can have fun and meet other kids through Project Sunshine’s TelePlay program, offering virtual activities for kids ages 5-9 on Saturday, June 26 and 10-14 on Sunday, June 27.

10. This Sunday is Father’s Day, are there any key sessions in the Forum you’d like to highlight for our rare community fathers or parents?

In general, there are several topics that I think could be very helpful for an adult living with a rare disease who is a parent – or for parents of a child living with a rare disease – including, but not limited to: Shared Decision-making with Your Care Team, Getting Involved in Clinical Research, Debunking the Myths of Palliative Care, and Finding Your Community and Building Your Support Network.

If the father in the family is the patient, we have a discussion group for Rare Men that may be helpful.

For fathers in families living with a genetic/heritable condition, the breakout “Rare in the Family” may be a helpful resource.

If a father has a child living with a rare disease who has a sibling(s), the plenary session about The Rare Sibling Experience may help to understand some sibling perspectives and considerations.

If a father has a child who is still undiagnosed, there is a discussion group on Saturday, “Living Undiagnosed: The Endless Diagnostic Odyssey.”

Also, these discussion groups will bring parents of a child living with a rare disease together: “Parents of Newly Diagnosed Rare Pediatric Patients” on Saturday and “Parenting Rare Children” on Sunday.

For a bereaved father or father experiencing anticipatory or ambiguous grief, we offer a Breakout session on “Coping with Grief and Anticipatory Grief.” We also will hold a live discussion group on Saturday about “Rare Despair and Bereavement.”

11. How do you see the rare diseases field changing moving forward? What are the next big educational opportunities?

We hope to continually see more and more treatments approved each year, and we hope to see the scientific community find cures for rare diseases. We anticipate much to come in gene therapy and gene editing, and advancement in treatments due to data sharing. NORD will continue to encourage patients to participate in registries, natural history studies, bio banks and clinical trials. As an organization, NORD will continue to move forward with educating patients about their rights and how to manage their health and cope with the stress of living with serious and chronic illnesses.

12. For someone just learning about NORD or a rare disease, what’s the best place to start?

NORD’s Rare Disease Database provides reliable information about rare conditions written by experts. Also, finding your community is important to find specialists, learn about research, and find support. NORD’s Organizational Database is a great place to start. We also are offering a session at Living Rare, Living Stronger called “Finding Your Community and Building Your Support Network.

Interview with NORD Ambassador Maria Bellefeuille

Maria Bellefeuille is the NORD Rare Action Network Volunteer State Ambassador for Illinois. In advance of this weekend’s Living Rare, Living Stronger Patient and Family Forum, Maria answered some questions about being both a rare disease patient and advocate.

Advocate Perspective

Please tell us about yourself and why you decided to become a rare disease advocate?

I am a thirty-five-year-old wife, stepmother and cat mother to four! I was diagnosed with cystic fibrosis at six months of age when the life expectancy was less than 10 years old. My diagnosis in 1984 came with many uncertainties so my parents nurtured me to live a normal life which led me into adulthood wanting to learn more about my diagnosis. As an adult, I learned that advocating for myself was important and many people do not have the voice or tools to learn how to advocate for themselves. With the guidance of doctors and the Cystic Fibrosis Foundation, I decided to start my advocacy journey ten years ago. In the last three years, I found my passion and started advocating for all rare diseases.

What challenges have you faced when advocating for rare diseases? How did you overcome these?

Some of the challenges when advocating for rare diseases include understanding underlying issues such as access to care and limited resources for rare disease patients. I can not say I have overcome these issues but I used networking with others to familiarize myself with their struggles then reached out to policy makers with their stories and contact information for further assistance.

What is something that you wished you had known when you first became a patient advocate?

As a rare disease patient and advocate, I was overwhelmed at first by how many rare diseases there are but soon I learned that each patient story has similar struggles and those were the key points to advocate. These lives show power, independence and motivation in their own ways.

Patient Perspective

What has your experience as a rare disease patient taught you?

As a rare disease patient, I became knowledgeable of my own disease before finding the right care team. My care team listens to me about my concerns and we make a plan. I have learned to be open minded on trying new ways to navigate routines and situations to achieve my optimal health goals.

What are your top tips and/or advice for living well with a rare disease?

Prioritizing and organization are some tips for living well with a rare disease. I set reminders for medication refills and keep medications handy in different areas of the house. For example, my morning pills are where I prepare my coffee and my dinner pills are on the table. I used to make lists to prioritize however the lists started to feel overwhelming when I didn’t have the energy to complete them so instead, I made weekly goals instead of daily. Best advice I would give is to find a flexible routine that works for you. Flexible routines allow you to use them when you are also away from home. Keep a bag ready in case of emergency that includes times you take medications and where you may fill them, this will help doctors and nurses plus allow you to have control of your care even when you may feel under the weather.

What do you wish everyone knew about rare diseases?

As a patient and advocate, I wish everyone would see that we are all different. Cystic fibrosis, for example has over 1,700 CFTR mutations, this means each CF patient can experience something different. Most rare diseases aren’t textbook so when you meet someone with a rare disease don’t assume their experiences, ask questions.