My Message as a Researcher to Anyone With a Rare or Undiagnosed Disease
I did not know much about rare diseases until I started my new job as a researcher a few weeks back. I thought rare diseases were, well, rare. That’s what I believed. However, the more and more I look into it, I realize I was wrong.
The statistics on rare disease are quite astonishing. While each rare disease is rare on its own, when you group them all together, this is not true. There are more than 350 million people who have 7,000 identified rare diseases worldwide. In United States alone, one out of 10 people have a rare disease. Rare disease impacts more people than cancer and AIDS combined. I can sit here and throw out number after number, but the thing is that rare disease is not rare. Yet because of the title “rare” disease, there is a misconception that rare diseases only affect a very small number of people.
As I meet more undiagnosed rare disease patients, I am so inspired by their courage and their grit. Yet so many undiagnosed patients feel like they are on their own. Their doctors just continue to suggest test after test without providing any definitive answers. When the patients can’t rely on the medical professionals, they turn to Google and online forums. The patients and their family become keyboard warriors, looking and searching for any clues that might given them some clarity about their undiagnosed conditions. I hear constantly from patients who feel like they are the only one in the world with their condition and don’t have anyone to connect with. They may feel isolated, lonely and secluded.
I just want to say: don’t give up hope. There are so many people out there supporting and rooting for you. We are all out here to root and provide you with whatever is necessary. I know scientists who are working in genomics, trying to understand, diagnose and treat rare diseases. I know patients who felt hopeless once; now they are diagnosed and successfully cured. Keep searching and keep pushing. Find and connect with other rare disease patients and researchers. There is much more information and help for you. As a researcher who is trying to help rare disease patients, one of the hardest parts is finding and connecting with patients. So let your voices be heard — there are people out there who want to help you. Lastly, don’t give up. Just because your doctor doesn’t have the answers does not mean that there isn’t anyone who can help you. Keep searching and keep fighting. The world is out there for you to explore!
@molly48823 The article “message from a researcher” was excellent! I added a small piece from an article I just read:
“The difficulty in diagnosing rare diseases stems from many physicians’ unfamiliarity with these diseases and the specialized diagnostic tools that are necessary to identify the condition
For sufferers of an undiagnosed rare disease, every day is challenging. Today, on Undiagnosed Day, we aim to bring visibility to these daily challenges. We encourage anyone who is experiencing unexplained symptoms to keep fighting and to keep searching. No matter how hard it gets, know that there are many organizations, including Autoimmune Association, working hard to improve the future for undiagnosed patients and increase awareness of rare diseases. Through awareness, research, education, and advocacy, Autoimmune Association is leading the fight against autoimmune disease”
This is why i always recommend the those who are looking for a diagnosis, always go to a university hospital or major medical center. Thank you so much for contributing the article for all to read.
@rgg, just to make sure you know where I am coming from, I have several DNA-type diseases which work for and against each other. Gelsolin, Fukutin Limb Girdle Muscular Dystrophy, Acute Lymphocytic(?). Leukemia, various anemias, cancers, Encephalopathy, Blepharochalasis, Hypothermic and hyperthermic Sensitive Purpura, etc. I have begun a list of the DNA I have which may or may not be active but which are damaging if they do start operating. Strangely, the labs can not find any evidence that I have had chicken pox or mumps. However, I have been diagnosed with each by MDs multiple times, including 5 times for mumps. So far, there are about 90 of the DNA disorders/diseases. About 50 are considered clinically active at this time. But I am almost 81 years old, so I can collect anything I want, I guess. When I was born, the MD said he did not expect me to see my third birthday, so I have outlived that guess. Just make sure you protect you health as best you can, and don't be afraid of what happens next. I have had 30 heart catheterizations and 2 cardiac bypasses, and 8 cancer surgeries. Now it turns out that most of this could have been avoided if I had known about my DNA much earlier. And the environmental impacts which may have altered my genetic structures. Radon, Nuclear test radiation, Round-Up, 2-4-d, 2-4-5T, DDT, Sulfa, Ether, Very cold, very hot work sites. Insects, work-until-total-fatigue-then-literally-drop. Any of these can cause variants to come along. And, oh, yes, I was born. That was quite the DNA-shaping experience. Try it some time.
@rgg The current struggle with Covid 19 is a good reminder that every part of our DNA affects every other part. I mention this because I have LGMDr23, diabetes 2, assorted myelomas and other cancers, etc. At 82, I am still quite strong. I must be, as I can pick up almost anything the labs can sort out. And, here is the good part: With what I have, the most effective treatment for Diabetes 2 I know of is the current Hot Dog treatment for Covic 19, Paxlovir (I think that is correct--same as Biden is getting). I just finished my 5-day cycle of P., and my AM glucose has gone from around 160 to around 80. That's right eighty! I also take about 20 Novolin R before meals and sack time.. Certainly, you may wish to discuss this with your docs, and mention it to Pfizer if you get the same response. Anyone else getting this response? oldkarl
@rgg, just to make sure you know where I am coming from, I have several DNA-type diseases which work for and against each other. Gelsolin, Fukutin Limb Girdle Muscular Dystrophy, Acute Lymphocytic(?). Leukemia, various anemias, cancers, Encephalopathy, Blepharochalasis, Hypothermic and hyperthermic Sensitive Purpura, etc. I have begun a list of the DNA I have which may or may not be active but which are damaging if they do start operating. Strangely, the labs can not find any evidence that I have had chicken pox or mumps. However, I have been diagnosed with each by MDs multiple times, including 5 times for mumps. So far, there are about 90 of the DNA disorders/diseases. About 50 are considered clinically active at this time. But I am almost 81 years old, so I can collect anything I want, I guess. When I was born, the MD said he did not expect me to see my third birthday, so I have outlived that guess. Just make sure you protect you health as best you can, and don't be afraid of what happens next. I have had 30 heart catheterizations and 2 cardiac bypasses, and 8 cancer surgeries. Now it turns out that most of this could have been avoided if I had known about my DNA much earlier. And the environmental impacts which may have altered my genetic structures. Radon, Nuclear test radiation, Round-Up, 2-4-d, 2-4-5T, DDT, Sulfa, Ether, Very cold, very hot work sites. Insects, work-until-total-fatigue-then-literally-drop. Any of these can cause variants to come along. And, oh, yes, I was born. That was quite the DNA-shaping experience. Try it some time.
If there is reincarnation then maybe you can return to some planet or other and be an amazingly healthy champion athlete. I'm starting to dwell upon such things - humans are ever hopeful 😀 this Earthly living is not what its cracked up to be
When I first started getting acquainted with LGMDr23, I had been pushing around Gelsolin (Finnish Amyloidosis) on my plate, just like a 8-year old playing with dinner. Anyway, I ran into an article someone had written for NIH which compared LGMD (or FKTN) and Gelsolin . Anyway, it ended up saying that these may be (but not necessarily are) variants of the same disorders/ diseases. I bring this up because I have been diagnosed clinically with FKTN, LGMD, CALR (Clarkson's), GSN, Meretoja's, and several others, using many of the same clinical readings, all of which may (or may not) be the same crap. So be careful. Be sure to get a proper official whole genome sequencing, and have a skilled clinician read it. And watch all the webinars you can find put out by the likely culprits (Mayo, Andersen, Johns Hopkings, Karamanos, City of Hope, etc. One could easily get turned around with this stuff. old karl
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My Message as a Researcher to Anyone With a Rare or Undiagnosed Disease
I did not know much about rare diseases until I started my new job as a researcher a few weeks back. I thought rare diseases were, well, rare. That’s what I believed. However, the more and more I look into it, I realize I was wrong.
The statistics on rare disease are quite astonishing. While each rare disease is rare on its own, when you group them all together, this is not true. There are more than 350 million people who have 7,000 identified rare diseases worldwide. In United States alone, one out of 10 people have a rare disease. Rare disease impacts more people than cancer and AIDS combined. I can sit here and throw out number after number, but the thing is that rare disease is not rare. Yet because of the title “rare” disease, there is a misconception that rare diseases only affect a very small number of people.
As I meet more undiagnosed rare disease patients, I am so inspired by their courage and their grit. Yet so many undiagnosed patients feel like they are on their own. Their doctors just continue to suggest test after test without providing any definitive answers. When the patients can’t rely on the medical professionals, they turn to Google and online forums. The patients and their family become keyboard warriors, looking and searching for any clues that might given them some clarity about their undiagnosed conditions. I hear constantly from patients who feel like they are the only one in the world with their condition and don’t have anyone to connect with. They may feel isolated, lonely and secluded.
I just want to say: don’t give up hope. There are so many people out there supporting and rooting for you. We are all out here to root and provide you with whatever is necessary. I know scientists who are working in genomics, trying to understand, diagnose and treat rare diseases. I know patients who felt hopeless once; now they are diagnosed and successfully cured. Keep searching and keep pushing. Find and connect with other rare disease patients and researchers. There is much more information and help for you. As a researcher who is trying to help rare disease patients, one of the hardest parts is finding and connecting with patients. So let your voices be heard — there are people out there who want to help you. Lastly, don’t give up. Just because your doctor doesn’t have the answers does not mean that there isn’t anyone who can help you. Keep searching and keep fighting. The world is out there for you to explore!
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3 Reactions@molly48823 The article “message from a researcher” was excellent! I added a small piece from an article I just read:
“The difficulty in diagnosing rare diseases stems from many physicians’ unfamiliarity with these diseases and the specialized diagnostic tools that are necessary to identify the condition
For sufferers of an undiagnosed rare disease, every day is challenging. Today, on Undiagnosed Day, we aim to bring visibility to these daily challenges. We encourage anyone who is experiencing unexplained symptoms to keep fighting and to keep searching. No matter how hard it gets, know that there are many organizations, including Autoimmune Association, working hard to improve the future for undiagnosed patients and increase awareness of rare diseases. Through awareness, research, education, and advocacy, Autoimmune Association is leading the fight against autoimmune disease”
This is why i always recommend the those who are looking for a diagnosis, always go to a university hospital or major medical center. Thank you so much for contributing the article for all to read.
-
Like -
Helpful -
Hug
5 Reactions@rgg The current struggle with Covid 19 is a good reminder that every part of our DNA affects every other part. I mention this because I have LGMDr23, diabetes 2, assorted myelomas and other cancers, etc. At 82, I am still quite strong. I must be, as I can pick up almost anything the labs can sort out. And, here is the good part: With what I have, the most effective treatment for Diabetes 2 I know of is the current Hot Dog treatment for Covic 19, Paxlovir (I think that is correct--same as Biden is getting). I just finished my 5-day cycle of P., and my AM glucose has gone from around 160 to around 80. That's right eighty! I also take about 20 Novolin R before meals and sack time.. Certainly, you may wish to discuss this with your docs, and mention it to Pfizer if you get the same response. Anyone else getting this response? oldkarl
-
Like -
Helpful -
Hug
3 ReactionsIf there is reincarnation then maybe you can return to some planet or other and be an amazingly healthy champion athlete. I'm starting to dwell upon such things - humans are ever hopeful 😀 this Earthly living is not what its cracked up to be
When I first started getting acquainted with LGMDr23, I had been pushing around Gelsolin (Finnish Amyloidosis) on my plate, just like a 8-year old playing with dinner. Anyway, I ran into an article someone had written for NIH which compared LGMD (or FKTN) and Gelsolin . Anyway, it ended up saying that these may be (but not necessarily are) variants of the same disorders/ diseases. I bring this up because I have been diagnosed clinically with FKTN, LGMD, CALR (Clarkson's), GSN, Meretoja's, and several others, using many of the same clinical readings, all of which may (or may not) be the same crap. So be careful. Be sure to get a proper official whole genome sequencing, and have a skilled clinician read it. And watch all the webinars you can find put out by the likely culprits (Mayo, Andersen, Johns Hopkings, Karamanos, City of Hope, etc. One could easily get turned around with this stuff. old karl