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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.

Is Laughter Really the Best Medicine? One Woman’s Mission to Help Others with MPNs

Is Laughter Really the Best Medicine? One Woman’s Mission to Help Others with MPNs from Patient Empowerment Network on Vimeo.

Could laugher really be the best medicine? Patient advocate Summer Golden explains how she uses comedy to cope with her myelofibrosis (MF) diagnosis and shares her mission to inspire others.

Summer Golden and Jeff Bushnell have been married for over 20 years. When Summer was diagnosed with myelofibrosis (MF), Jeff took on the role of care partner and advocate. Summer uses her years of theatre training and comedy to cope with her condition and help others, while maintaining positivity about the future.

See More From the The Path to MPN Empowerment

Related Programs:

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Expert Tips for Managing MPN Related Anxiety


Transcript:

Summer:

When I was initially diagnosed after some other false starts with an MPN, I was kind of shocked because I’ve never really been sick, and I don’t take medications, but I didn’t think about it – that sounds crazy; I can’t explain it. I just figured I’d be okay, and the main thing – I didn’t wanna give up this theater.

You know how when you’re my age, people talk about nothing but their illness sometimes? I just never been into that, so it wasn’t part of my personality.

I started doing comedy two years ago because a friend of mine was taking a comedy class, and I went to her showcase, and I thought, “I should try that, even though I’ll never be funny, I have no jokes, and I don’t know what I would say.” But, I went, and I did comedy in clubs for a while, and then I didn’t – I don’t really like drinking and dirty jokes, so I kind of got away from it off and on, and then, when I got into doing it about my myelofibrosis, then I saw a purpose in it, so I went back to it.

I was thinking about whether my life was gonna be changed, how this was gonna change me, so I emailed my comedy teacher in the middle of the night, and I said, “Do comedians ever talk about cancer, having it?” And, he said, “Only if they have it.” So, I emailed him back and I said, “I’m coming back to your class,” so I did. He assigned everyone to be in a showcase. I was gonna do mine about cancer. It was six weeks, so I had to find humor. I don’t know how I find it. I just kind of see things.

I was shocked because I thought people were gonna hate it, and I was gonna quit, and then I’d invited my doctor and two friends, so I thought I’d better not just not show up. But, people came up and said they were inspired. I was just amazed because I mainly –I don’t go out of my way to think of – I do think of things that are funny, but it’s just – it’s a real thing. I try to keep my comedy real.

It’s helped me by being in control. I don’t pay much attention to the symptoms because I’m kind of over them.

Just helped me feel like I’m doing what I can do, and so far, it seems to be working, as long as I get enough sleep.

How do I think comedy could help other people who have health problems? I can tell you one way I thought to help somebody. I wanna start a class for people, but so far, there hasn’t been a lot of interest, but I think I could really help people doing that because I know how to write comedy.

If they really wanna do that, they would be a type of person that has humor, and they could do it, but you’ve gotta realize sometimes, people get a lot out of being sick. There are a lot of rewards, and so, they might prefer to have those rewards. For my way of thinking, if they wanna do humor, it’ll make a big difference, and if somebody wants to do it, they could call me, and I’ll help them.

F Words in Rare Disease

A dad I know recently posted a photo and shared his excitement on Twitter about a new set up for his bike with a trailer for his son. Its overall purpose being an opportunity to do more stuff together as a family. I wholeheartedly shared in his excitement as I too had been putting money aside to find more opportunities for my own family to get outdoors more. Both of us are parents of children who were born with a rare diagnosis. Our kids have different rare diagnoses, but like all families we are eager to connect with the greater world around us and share it with our kids however we can.

My own kiddo is going to be thirteen this year, and we are at a turning point in the discussion of overall health. We are off-book and off script as there’s nothing that clinically describes this age range for his specific diagnosis. Anecdotally, he seems to be following his own trajectory for some inexplicable reason deviating from other children I know with this diagnosis. I’m at the hospital more professionally than I am as mom of a patient which to some audiences the reaction is, “Yay! Your family gets a break! So everything is fine now, right?”. The reaction from fellow parents of palliative patients is, “I’m so sorry”, because they realize the fight is over. That life is going to do whatever it is its going to do. The hospital is still there if you need them, but your frequent family vacation time at “Club Med” is to be replaced with a new family dynamic and new identity as take a go at life more on your own.

Health care is quickly deviating from textbook, generalized care to something highly individualized. This in theory is a great concept but is extraordinarily multifaceted in its impact on patients affected by rare disease. As someone who manages a support group of over 800 patients and caregivers from my home province, I find a deep desire to ask in some capacity whether we are prepared for the pace of advancement. A long-term goal I have in mind is to create a biopsychosocial assessment of the needs of families. For now, I can say for as much new information as I bring to the proverbial table, it’s so often met with, “How do I fit this into my complex world?”.

I hesitate to use the term ‘finding balance’ at all, because if there’s one thing I think many of us rare patients and families experience is more of a need to manage random health chaos. The status of my own family can shift on a dime and you have to learn to be very much ok with that because you have no other choice than to.

So how does one even begin to manage understanding how to frame your life and all the decisions you have to make? For a little over four years, I’ve been working as a parent researcher and engagement facilitator with a focus on the subject of childhood disability. One concept we often speak on is the World Health Organization’s International Classification of Functioning, Disability Health. A simplified version of a very technical document is called “The F Words in Childhood Disability”. Now these are concepts that I wish to argue merit for as a way to create form to thoughts and efforts that you are probably doing already. At the same time, it can become very validating and empowering to realize that current evidence points to the fact that you are already on the right track. These are ideas upon which a potential framework can be created in your own mind as to goals that can be accomplished, or a way to weigh decisions that need to be made. We are often so focused on the burdens of disease, that we need a compass of sorts to point us back to the idea that life is happening around us and time can often be a precious commodity. They are six words that reflect the story that’s unique to you or your family and nobody else.

Function

There is often a need to perform tasks in ways unique to their own abilities. If independence in some areas can be fostered, we need to be able to honor that.

Family

Family isn’t always about people you are genetically related to. People react to the idea of illness very differently and in some cases, you need to seek community and “family” elsewhere. Regardless, the people in your life that you surround yourself with are people that are important to you. It’s important to listen to them as they know you best.

Fitness

As a post-cancer “spoonie” myself, I often bristle a bit on this subject. Between my own struggles with energy and the physical impact of caregiving, I’ve found it difficult to find the energy to be healthy. However, your story isn’t my story and in reality it can be intensely difficult to find ways to be healthy. In the area of rare disease, I think health becomes a broader term by definition: overall health takes on many forms be it mental or physical health. We often term health as some sort of fitness guru Instagram aspiration, but sometimes overall improved health comes from even the tiniest of steps and even the little efforts deserve to be celebrated in a huge fashion.

Friends

Existing around peers can take on many forms, and in order to do so sometimes we need to be brave and reach out to others for more accessible ways to connect with friends. What can’t be ignored is a human being’s overall need to connect with other people as we learn and grow together.

Fun

In a world that can be taken up so much with appointments and treatments, its so important to stop every now and then and have fun, be silly, briefly escape the world and just plain live. Fun can take on so many different things.

Future

So much definition of future is often left to the financial planners of the world in regards to careers, academics and whatnot. Sometimes the future is only planning ahead 15 minutes at a time or a week from now. As hokey as it sounds, with age I’ve begun to see the value and emotional weight the phrase “one day at a time” holds in my life. I’ve been asked more times than I can count as to how I picture my family’s future. My response remains that I really am not gifted with that luxury, ask me what I’m working on for tomorrow.

I have seen these terms be threaded through my life in so many ways. Sometimes you are only focusing on one F word at a time and there’s no judgement in that at all. I like any other mom am someone who struggles with whether or not I’m doing a good job. I think the gauge by which I measure this is probably unique to my own personal story but I know that I am not alone in this feeling. I feel though with the F words, I have a more confident platform to stand on not to be his voice but to be his microphone. There’s so much I can’t control in life but as his mom I want to help him own every second as his life to live. So in celebration of birthday number 13, we’re taking “fun” as our next goal and bought a bike trailer too! I know he’ll love it.

A Journey of Resilience

Nothing in life can ever prepare you for the news of a life changing illness of any type. This was the case in 2006 when I was diagnosed with Complex Regional Pain Syndrome or CRPS for short. A rare neuro-autoimmune disease that causes constant chronic pain and can also affect the immune system, skin, muscle, joints, and bones it is known as the most painful chronic pain condition there is. The other name of which people refer to CRPS is “the suicide disease”, for which no explanation is really needed.

I live in Regina, Saskatchewan. If you don’t know where that is that’s in Canada. As a happily married father of two very special girls, family life was everything and more leading up to diagnosis. I held a position in senior management with a large company and my wife had decided to leave nursing to pursue her desire of being a stay at home mom. Life was good! Then our world was suddenly flipped upside down as a simple surgery to remove a cyst in my left wrist went really wrong.  Immediately after the surgery I started experiencing a burning in the arm. Not to mention the severe pain and swelling that was going on. Something was very wrong and the pain getting more unbearable by the day.

This would set off almost an almost two year journey into trying to figure out what was causing such horrific pain. I also began to display numerous other symptoms associated with CRPS. Symptoms like sensitivity to touch and temperature, waxiness of the skin, hair loss, and disfigurement to name a few.  Eventually, I would visit upwards of twenty physicians being tested for every disease you could think of. Yet no physician was able to make any form of a diagnosis. Without answers trying to treat this disease was difficult. Eventually, I was unable to use my hand at all, and the pain left me unable to function on most days. So I would be forced to go on permanent disability.

After virtually exhausting all the resources within Saskatchewan I would have to seek help outside the province. With paperwork already filed with the Mayo Clinic and preparations being made to go, we received a phone call from a friend who is a physician and knew of a specialist who specialized in chronic pain. We flew out to Vancouver, B.C. where the specialist was able to make the diagnosis of CRPS and tell me there was no cure, and that there was very little he could do to treat me.  As I walked out of his office I remember being hit by a wave of emotions!  Suddenly everything was becoming so real. Things like fear and anger were trying to take over my mind. I didn’t know what to feel or where to turn next.

As if this wasn’t enough, after an injury to my ankle CRPS spread into my left ankle and leg. This would eventually mean that I would need to use a cane to walk at all. To say the journey up until this point was frustrating is an understatement! Not wanting to focus on the negative however I remained optimistic in my pursuit to find the help I needed. Through a series of tests that I would have in order to try and manage the pain in my leg, I would finally find a specialist who could help with a treatment plan.

It had been almost two years up until this point but I finally felt as if there was a little bit of hope that something could be done to help me manage this disease. I had finally been referred to a neurologist who works with a small team of professionals who worked with CRPS patients. This is the part of my story that I get so frustrated with because we had gone full circle only to end up right back here in Regina. Had other physicians or specialists been more aware of CRPS then quick diagnosis could have happened.

It was refreshing finally having a team of healthcare professionals who truly understood what I was living with. The goal was to try and help me gain back a quality of life I had lost and maybe more. So over the course of the next several months I would form my treatment plan which was to be a combination of medications and surgically implanted neuro-stimulators.  After ten major surgeries and extensive physiotherapy I started walking short distances. I also started working with a psychologist to try and help with aspects of my mental health that I was struggling with. These were both positive steps and gave me the motivation I needed to keep moving forward.

As I started coming to terms with everything I was going through with this disease I began to see that I didn’t have to let it hold me hostage. Sure, things might be good one day and bad the next but I could chose to be positive and move forward to the best of my abilities. I had to ask myself a really hard question. Was I going to let CRPS define who I am or what I can do with my life? There was still so much about my life that was so good! I was just having trouble seeing that through all the emotions. Once I figured all of that out, it made moving forward so much easier. It was at this point that I decided to start using my story to help others and to advocate and raise awareness.

There are so few resources available to those of us struggling to find diagnosis, treatment, or even support programs with a rare disease like CRPS. So in the middle of the night I wrote a letter to our Premiere outlining my story, similar to the one here asking him to declare Nov 2 CRPS Awareness Day in the Province of Saskatchewan. The goal of this was just to do my little part here in my part of the world. Before long this was in place and I now have a yearly event taking place. Right here in my city we have had Feb 28 declared Rare Disease Day, and I have started a Peer2Peer support group through the Rare Disease Foundation. I speak at, and attend conferences across Canada and the U.S. in order to try and raise awareness and create change. Those efforts are making a difference because here in Saskatchewan with the efforts of CRPS Awareness Day we have managed to see changes in the teaching curriculum for second year med students.

Trying to fit thirteen years into what I’m writing today isn’t easy because it would take a book to try and explain all the different ways that chronic illness affects an individual’s life. My story that I’ve outlined here for you today, really only touches the tip of the iceberg when it comes to what my family and I have had to endure. However, I’m choosing to see only positive and the things that bring me hope in my particular journey. Things like the levels of awareness that have been raised within my community and province. Or the personal friendships and support from different communities that I have gained along the way. I can’t say what will happen down the road but there are a lot of things that are in our control. What choices will you make?

Spotlight On Monica Weldon – A Rare Disease Advocate

The 2019 Living Rare, Living Stronger NORD Patient and Family Forum is a conference in which patients and caregivers can gain insights and practical tools for living their best lives with rare diseases, with tracks for newly diagnosed patients, long-term patients, caregivers, physicians and medical students. Download the full agenda now for a look at the sessions, speakers, events and fun that will make this weekend in Houston one to remember.

In addition to workshops, programs include a Texas BBQ, wellness room with yoga and the hottest ticket in town: access to “NASA’s Museum” aka Space Center Houston, where we are hosting the year’s biggest show! Every registration comes with complimentary entry to the 2019 Rare Impact Awards, celebrating individuals, groups and companies making great strides to improve the lives of people living with rare diseases.

Monica Weldon is a caregiver for her young son, who is living with a rare disease. She will be speaking on “Relationships: Managing Marriage, Raising a Rare Child, Caring for the Other Children” as part of the Loving Rare track, which focuses on education and coping advice for caregivers. Here is an interview with Monica.

Please tell us about yourself and why you’ve founded the Bridge the Gap – SYNGAP – Education and Research Foundation?

When Beckett was 4 months old, I noticed he was not meeting the same milestones as his twin sister. This then began a journey to find answers to help my son. I started to blog about his progress and this led to building a community of parents and caregivers that are now a strong support group. I am the Founder and President/CEO of Bridge the Gap – SYNGAP Education and Research Foundation. My passion to help support these families by raising awareness and creating a strong foundation that will accelerate a path to better therapies.

I retired in 2016 after 23 years in education teaching secondary science. My new focus is on building the programs and mission of Bridge the Gap – SYNGAP Education and Research Foundation. I am the Primary Investigator on the SYNGAP1 (MRD5) Registry and Natural History Study. I am a life member of the Worldwide Association of Female Professionals and a member of the first class of 2017 Illumina Ambassadors established in the United States. In addition to leading the foundation, I am an author, public speaker, consultant on rare disease business strategies and advocates for rare disease legislation at both the federal and state levels. Several of my authored scientific publications include Nature Neuroscience, The Journal of Neurodevelopmental Disorders, and The Journal of Pediatrics. I have authored a book about my son Beckett’s diagnostic journey called “Slow Moving Stream – My Special Boy”. I graduated from East Texas Baptist University with a Bachelor’s of Science in Biology/Psychology (1991) and Secondary Certification in Education (1995). I am married to Chris Weldon and have five beautiful children, Haleigh (26), Taylor, USMC (23), Sawyer (21), and the twins Beckett & Pyper (10).

What specific challenges have you faced when advocating for your child? How did you overcome these?

One of the biggest problems I have faced is trying to obtain getting needed services for my son at the State level in public school and through Medicaid waiver programs.  The education system is strained with lack of resources and under staffed to get the needed quantity of therapy that is required to keep him progressing at a constant rate.  The state programs which allow him to have many of his medical needs taken care of are depleted due to lack of funding in our state.  We have considered moving to another state to obtain the services that he so desperately needs. Respite care is essential.

What are some resources available to help families better manage their family relationships while being impacted by a rare disease?

If you are a person of faith, lean on your church.  There are many special needs programs for couples and siblings of those with special needs.  Find camps that will include both the child of special needs and typical siblings.   If couples are having problems, seek counseling.  If finances are problems, negotiate with the counseling group to see if there are sliding scales they use to charge either low rates or none at all. They all have them.  Everything is negotiable.

What can parents do to feel less overwhelmed by a rare disease diagnosis?

I believe that grieving the loss of a child you thought you would have is a must.  Counseling can help and also spending time away from the situation to work on the relationship can be beneficial.  The question becomes how?  Especially if you are financially strapped and may not have family or friends to help relieve and remove you form the stress of caring for a special needs child.   Working  out and taking time for yourself is incredibly important.  People should not feel bad for taking an active role in self care.  It is a MUST!  if you don’t you lose yourself.

How can parents help their child living with a rare disease feel less isolated from the children who don’t have a rare disease?

I think that families should include them where ever possible and treat them as regular people.  After all, they are.  People seem to forget that just because they have a rare disease or disabled from one they do not feel, think or understand what is going on around them.  They do and it’s just as important as if hey were not sick or disabled.

What are your tips for other parents who have children newly diagnosed with a rare disease?

Find a community like you! If you don’t have a community, then do not be scared to begin one. There are other people out there like you.  Give them the opportunity to find YOU!  This will make a world of difference in such a world already predisposed to isolation.  Once you find a community, scour the world for experts.. if they’re none, find those who have related field in the symptoms of your disease.  There will be someone eventually who will want to help.  Never stop asking for help.

What do you wish everyone knew about families impacted by a rare disease?

It is HARD.. the days are Hard and long, but then days are triumphant and joyful.  This life is easy to take for granted, but the circumstances also teach you not to sweat the small stuff.  You really learn what is important in life.  Choose your battles.  Think about the things that are hard and say to yourself ” Do I want to die on this Hill today?”  No! There are mountains and valleys.. keep going!  This circumstance are meant to teach you something.  Take those bad things and look for opportunities.  Don’t feel like you have been trapped.  Knowledge is power and actions make progress.  Find leaders in the space making a difference and replicate them.  Follow successful people, do what successful people do and you WILL be successful.

Thanks to Social Media, Rare Progress on Rare Diseases

This post was written by Meredith Salisbury for Techonomy.com and was originally published on July, 26, 2016.

Rare DiseaseSolving any disease is hard, but solving rare disease is a special kind of torture. Take everything that must be accomplished with any old disease—What causes it? Under what circumstances? Who does it affect? How can we prevent it or cure it?—and then toss in a scarcity of cases. When doctors don’t see enough patients with the same condition, just recognizing that there are commonalities between them is a major challenge. How do you put together a useful clinical trial with a few hundred patients when there might only be 50 people in the world with a particular disease?

That’s why any advance in how we identify and treat rare disease is cause for celebration. Recently, social media has been a big part of many of those advances. Patients with these diseases are for the first time able to reach across geographic and cultural borders to band together, giving critical mass to efforts like fundraising and clinical trial enrollment that might otherwise wither away. The same technology that lets us fund glowing plants or find fellow cake-decorating enthusiasts may turn out to be the weapon that takes down many rare diseases.

Corrie Painter was on the path to earning her PhD in biochemistry when she was diagnosed with angiosarcoma, a rare form of cancer inside the blood vessels that affects just a few hundred people globally each year. Fewer than a third of patients diagnosed with angiosarcoma will be alive five years later. Six years later, Painter has beaten the odds—but when she speaks about life immediately after diagnosis, one of the things she remembers most is searching online for other patients fighting the same disease. Most of the people she tracked down in these searches had already succumbed to the cancer. Rare disease is tremendously isolating, and patients like Painter learn quickly that few people can truly understand their story.

Today, the angiosarcoma community is vibrant and connected, due in large part to Painter’s efforts. She helped put together a Facebook group for patients or people interested in the disease; it now has more than 2,000 members. At a moment’s notice, they can offer advice to fellow patients, share the latest research news, agree to participate in trials, and more. Painter also cofounded a nonprofit, Angiosarcoma Awareness, that coordinates fundraising for the disease. By gathering the small world of people affected by angiosarcoma, she has made possible what no individual could do alone: raised significant amounts of money on a regular basis to accelerate research into the disease and potential treatments.

As the opportunity for building rare disease communities through social media becomes evident, many people are following the same path. Sonia Vallabh was diagnosed at age 27 with a genetic mutation that makes it a virtual certainty she will develop the same rare prion disease that killed her mother. She and her husband, Eric Minikel, launched a blog and a nonprofit called the Prion Alliance to spur fundraising efforts and provide a source of relevant news and updates for other patients with a range of prion diseases. In 2014, Techonomy covered the remarkable identification of the first several patients with a newly discovered disease; many of those patients were found after the first patient’s parents blogged about the unexpected diagnosis.

To be sure, advocacy groups successfully built rare disease communities long before social media existed. One organization, Genetic Alliance, has been particularly important in assisting rare disease foundations by providing much-needed resources and training in patient advocacy, clinical trials, and more. But as genome sequencing is used to solve more and more medical mystery cases, the rate at which rare diseases are being discovered is increasing.

These new diseases—seen in a single patient, or maybe a few patients—require every tool available to establish communities and resources for supporting patients and developing treatments. As more people sign up for consumer genomic services or online genealogy platforms that allow for connecting with other users, this kind of progress might occur even faster. Rare disease research has long been hobbled by the lack of funding from government agencies with broad mandates. As patients build real communities and organize their efforts, there is good reason to believe that many of these diseases can eventually be targeted and overcome.


Salisbury, Meredith. “Thanks to Social Media, Rare Progress on Rare Diseases – Techonomy.” Techonomy. N.p., 26 July 2016. Web. 18 Oct. 2016. <http://techonomy.com/2016/07/for-rare-diseases-social-media-can-achieve-rare-results/>.

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