Rare disease is often marked by feelings of isolation but up to 400 million people globally live with a rare condition. Guidemark Health launched “29 Stories” to mark Rare Disease Day, which falls on leap day, and to help alleviate these feelings of isolation by sharing the unique stories of 29 people who live with a rare disease. With the rise of influencers and increased social connections, there is a growing collective voice working to debunk health myths and have more open and honest conversations, especially in rare disease. It is our goal that by giving people with rare disease this platform we facilitate these conversations by dimensionalizing the whole person as defined by themselves and not by their disease.


Ally

Ally is what my friends and family call me and they would say my superpower is my ability to effect change. If there was a biography about my life it would be titled “Never Give Up!”

I was diagnosed with Charcot-Marie-Tooth (CMT), 25 years ago. I want people to know that I care deeply for our CMT community and I am grateful for/that The Hereditary Neuropathy Foundation and my extraordinary team.

The most important thing people need to know about this condition is it is extremely debilitating and progressive and I get really frustrated by/when the lack of awareness of CMT. I wish I realized sooner that I needed a disease support team which is why if I could offer one piece of advice to anyone newly diagnosed with a rare disease it would be to find an advocacy group supporting your disease.

My hope for people living with this condition is to find comfort in the fact that HNF is supporting them. I believe more attention needs to be given to rare diseases because there are so many diseases with no treatments and many patients are suffering.

Resources:

Hereditary Neuropathy Foundation


Kelly

Kelly is what my friends and family call me and they would say my superpower is well, now it’s breathing, but I would say my continued positivity. If there was a biography about my life it would be titled “Just Breathe”, or “Double Lungs, Double the Chances.”

I was diagnosed with Cystic Fibrosis (CF), when I was 6 weeks old due to not gaining weight. I want people to know that CF doesn’t define me and that I am a ball of energy and it won’t stop me from my passion of teaching and I am grateful for/that receiving a double lung transplant on 12/20/19 and the chance to have a better life now and enjoy new adventures.

The most important thing people need to know about this condition is everyone that has CF has different conditions and it affects everyone differently and I get really frustrated by/when I would be coughing and people would ask “how much do you smoke,” or “are you sick?” They would always give a disgusted look also.

I wish I realized sooner that receiving a feeding tube to help gain weight relieves stress and also getting a port placed helped keep me out of the hospital because I was able to access and administer my IV antibiotics myself in the comfort of my home. which is why if I could offer one piece of advice to anyone newly diagnosed with a rare disease it would be don’t Google! Ask the doctors, social workers, nurses, and anyone any questions. Be an advocate for yourself or as a caregiver for the patient. Always speak up!

My hope for people living with this condition is that they will continue to develop drugs that help people living or newly diagnosed with CF live a better and more fulfilling life.

I believe more attention needs to be given to rare diseases because people just assume or Google and feel that they have enough information to judge. Each person is different and no story is alike. Rare diseases need to be talked about to raise awareness and shine light on the warriors that are fighting each day.

Resources:

Cystic Fibrosis Foundation


Kevin

Kevin is what my friends and family call me and they would say my superpower is resilience. If there was a biography about my life it would be titled “Growing up Rare”.

I was diagnosed with Barth Syndrome, 24 years ago. I want people to know that I want to do the best I can to help set an example of how a person with Barth Syndrome can live within the constraints of their condition and I am grateful for a community both near and far that has put me in a position to set a good example for others.

The most important thing people need to know about this condition is it is very deceptive. In most cases we look completely normal and I get really frustrated when people equate physical disability with mental disability. I wish I realized sooner that I was more capable than I expected which is why if I could offer one piece of advice to anyone newly diagnosed with a rare disease it would be to keep a positive attitude about things and focus on what you’re able to do.


My hope for people living with this condition is that we find a treatment and can live more fulfilling lives. I believe more attention needs to be given to rare
diseases because people are living longer with rare diseases and will be more visible in all walks of life.

Resources:

Barth Syndrome Foundation


Lindsey

Lindsey is what my friends and family call me and they would say my superpower is my ability to get people to trust me. If there was a biography about my life it would be titled Grace and Blessings, living beyond the norm.

My child was diagnosed with Leigh syndrome C12orf65 5 years ago. I want people to know that he is a testament to God’s goodness. He is happy and kind and smart and funny. I am grateful for his health and his smile.

The most important thing people need to know about this condition is there is a lack of awareness & it takes no prisoners and I get really frustrated by the lack of information and research. I wish I realized sooner that no one cares like I care, which is why if I could offer one piece of advice to anyone newly diagnosed with a rare disease it would be that you are the biggest advocate, so never give up.

My hope for people living with this condition is that one day we will have a treatment or cure. I believe more attention needs to be given to rare diseases because the people battling these rare diseases deserve to live a happy, full life.

Resources:

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Bels

Bels is what my friends and family call me and they would say my superpower is Charming. If there was a biography about my life it would be titled “A Life Change.”

I was diagnosed with CNTNAP1, 3 years ago. I want people to know that I’m happy, but desperate to find a treatment so I can live longer. I am grateful for having the best parents in the world.

The most important thing people need to know about this condition is it is so rare that it cannot be compared to others and I get really frustrated when I have no language and I have yet to learn to use my hands fully. I can therefore get frustrated when people do not know what I want.

I wish I realized sooner that there are other children in the world like me, which is why if I could offer one piece of advice to anyone newly diagnosed with a rare disease it would be search on Facebook and other places on the name of the disease to see if there are other people like you.

My hope for people living with this condition is they will join the project on finding a treatment for our children. I believe that more attention needs to be given to rare diseases because the more people we find, the easier it will be to find a treatment.


Cathy

Cathy is what my friends and family call me and they would say my superpower is Supermom. If there was a biography about my life it would be titled “Gives All.” I was diagnosed with Cutaneous T Cell Lymphoma, 14 years ago. I want people to know that I care wholeheartedly in everything I do and every action I take, whether it be as a Physician Assistant in dermatology as a provider, as a mother, as a wife and as a friend.

I am grateful for the outdoors surrounding me, my health, family and the village of friends I surround myself with. The most important thing people need to know about this condition is it is very difficult to diagnose and it comes with no cure. Remissions and relapses are common. This is a marathon disease and there is no sprint to the end and I get really frustrated by people mistreating people. Kindness is a virtue that needs to become a virus.

I wish I realized sooner that second opinions and differential diagnoses are often a necessity to getting the correct diagnosis, which is why if I could offer one piece of advice to anyone newly diagnosed with a rare disease it would be to seek out all treatment options and find a provider that is willing to go the distance with you  on this journey.

My hope for people living with this condition is they have hope and a provider who gives them nothing less. I believe that more attention needs to be given to rare diseases because the statistics show there are many more people living with Cutaneous T Cell Lymphoma and not just atopic dermatitis/eczema. The proper diagnosis early on can significantly improve your quality of life and odds of this being contained in an early stage.


Ali

Ali is what my friends and family call me, and they would say my superpower is my ability to calculate numerical problems without a calculator. If there was a biography about my life it would be titled Too Many Headaches.

I was diagnosed with Neurofibromatosis when I was an infant after my skin showed brown cafe au lait spots on my skin which are part of how neurofibromatosis presents itself. I want people to know that is I’m just like everyone else.

I am grateful for the loving support of my family. The most important thing people need to know about this condition is that people that have this condition despite any physical traits are just like everyone else, but tasks may take them longer to complete.

I get really frustrated by/when I get frequent, debilitating, headaches and somehow everyone considers them as “just a headache”. I get frequent headaches because I have hydrocephalus due to the numerous brain tumors which block the circulation of fluid in my brain. Even though I have two shunts to help the fluid drain, I still have headaches when the pressure in my brain builds up. Each person with neurofibromatosis has different presentations of the “neurofibromas” which can be mild bumps on the surface of their skin, to internal tumors on different organs or bones. Less than 5 % have fibromas on the brain, which is what I have. I also have one on my left optic nerve, so I haven’t had vision in that eye since birth. It is common for people with neurofibromatosis to have optic nerve and/or orthopedic challenges. When I was 18 I underwent surgery to remove one fibroma on my brain. Shortly after the surgery I had a complete retinal detachment in my good eye and despite numerous surgeries, I am legally blind and have no peripheral vision. I am only explaining my journey to demonstrate how neurofibromatosis creates complicated manifestations in each person and that as time goes on the disease progresses in diverse ways in each person.

I wish I realized sooner that there are support groups for people living with NF and that people should seek out groups for support no matter what disease you are faced with. If I could offer one piece of advice to anyone diagnosed with a rare disease it would be to stay positive because it will help you deal with the hardships and unknown challenges ahead.

My hope for people living with this condition is the number of people born with this disease will decrease. I believe that more attention needs to be given to rare diseases because finding cures and treatments will enable those afflicted to have a better quality of life and be able to live life without physical impediments.


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