How to Use Side Effects from Medications to Help Diagnose Rare and Genetic Diseases

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Who would have thought that all those ingredients we cannot pronounce could be helpful in more ways than one? Currently I am close to having an official diagnosis of a rare and genetic disease. But it has taken almost two decades of horrific pain, being told I was crazy, having doctors professionally laugh at me (not an actual “ha, ha” but a “do you know how unlikely that would be”), or simply drop me as a patient or ignore me, and the ER getting more and more efficient at getting me out without really paying attention.

I only give this brief introduction to my world because I know there are a lot of people with some of the same medical issues as me. I know because they come flocking to me to find out how I keep everything under control on my own and with natural methods. Those who are suffering find relief when they come across someone with the same blood test results and odd findings that doctors have no explanation for.

It is through my worsened reactions to the medications that I was able to start convincing my doctors that something more was amiss. So why flaunt my maladies where the whole world can see and jeopardize who knows what? Simple. I want to help more people become educated. It is because so many people desperate for real help have been silenced because they were made to feel crazy or stupid that there is not more awareness about certain diseases or simple solutions that can do away with the maladies or medical issues people have.

I am not a medical professional. This is just written based on my experience and the experiences of others with similar circumstances.

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Start Simple

This may seem silly, but the first thing to do is know something is wrong. But do not assume you have something serious. I am a type A personality and figure I can just push myself through anything. Well, I did that until I got so bad that I was literally crawling up the stairs because I could not walk well, was short of breath, and was in extreme pain. So, if you know you are not “crazy” or a hypochondriac, you can start to get somewhere. But do not be surprised if you are asked to see a psychologist “because there is no way you can have all those symptoms.”

I, like others, just hope that a change in diet or eliminating something from my daily habits will make everything better. But I can say I tried everything from going gluten-free to acupuncture and reiki, and beyond. The first thing I was always told was make sure I have a balanced diet and strengthen my core. I found this almost funny since those that know me know I eat well and run after two kids all day while doing activities like gardening, working, etcera. Plus, I am a former athlete. The doctors were really stumped when I started taking Zumba classes and teaching Zumba classes to prove I was giving my best. Sure, my core could be stronger, but the point is I was not lazy or a sloppy eater. So, I automatically wanted to up the ante and get beyond the basics. But for some people changing diet and exercise does cure a lot of problems.

Star Trek “The Way to Eden”

Pay attention starting 3 minutes in. I love this line/lyric about a clean bill of health.

Be Proactive

See your primary physician. While everyone knows that the patient knows his or her body best (see Step 1), it seems like the first rule to be ignored by practitioners. If you have a good relationship with your doctor and/or they know you well, things will go smoother and hopefully progress faster. All the basics have to be ruled out first. This usually means complete blood panels and the typical physical examination. Often everything will come back “normal.” But this leads to an addendum to Step 2.

You may have to seek input from non-traditional practitioners. Often their cut-off for what is normal is different than traditional practitioners. Alternative practitioners can also be more sensitive to all the systems in the body and might have both medical and holistic or naturopathic training.

Whatever your course, you will have to go through your primary physician for referrals. But this only applies for those with HMO’s. If you have a PPO, then you do not need referrals and can go to any specialist you see fit. However, there may still be limitations based on if a practitioner is in network or not.

Bottle of prescription medication
Bottle of prescription medication | Source

Get Worse Before You Get Better

Now this section gets into the nitty-gritty of using the side effects from medications to potentially diagnose rare and genetic diseases or an ailment not previously considered by your doctor. Doctors keep a chart of your records. And you need to too. However, your chart needs to be of reactions to medications. Often patients just take what they are given. And sometimes your record is not looked over thoroughly to see if you might have an adverse reaction to a medication, especially if you go somewhere like an emergency room. Either way, you need to chart, chart, chart. Know what medications work for you and which set off symptoms or adverse reactions. Even something as routine as antibiotics can cause major issues for those who are allergic to antibiotics and do not know it.

I was lucky that when my rheumatologist switched to electronic filing that my most recent print out had a track record of my reactions to different medications. This really helped convince other doctors that there were a limited number of diseases that could cause such reactions. I just learned from a nurse today that it is handy to keep a card or piece of paper in your car, on your person, in your purse, and etcetera of medications that you have allergic or adverse reactions to. This way if you go to the ER, the EMT and/or physicians know what not to administer in case you are not conscious. In a case like mine, the wrong medication will make the situation worse and delay recovery.

Keeping a detailed log of reactions will help you double check your symptoms with information from several places. If you or your doctor suspect a specific condition, you can go online and see if there is a national foundation, agency, or company that lists typical reactions or a list of what is safe or unsafe to take. I often listened to others as they rattled off a laundry list of medications they were on or recently switched to because one did not react well with (insert long name of expensive medication here). And now I am of that lot to an extent. I can quickly say what medications make me worse and set off terrible reactions. After so many reactions and not getting better from the miracle drug that was supposed to help, a couple of doctors are now on board that I have a particular rare and genetic disease.

Fake family tree
Fake family tree | Source

Become More Educated About Your History

Part of becoming more educated includes knowing your family history. I don’t expect you to go on Ancestry.com to start researching your lineage. But you should know if anyone in your family had specific ailments that can be passed down. The puzzle pieces sort of starting coming together in my case because my mother has a rare autoimmune disease and when she was younger experienced a separate rare condition. Armed with this information, specialists are convinced that whatever is ailing me is genetic.

You also have to know the limitations and uses of certain practitioners. Primary care physicians no doubt have an immense storehouse of information about different conditions. However, their training and exposure to rare and genetic conditions may be limited. While they may have heard about a rare or genetic disorder, because they are rare it makes them unique. And this does not warrant a lot of space in their educational training. This is in part due to the limited amount of information about the disease and other factors. For example today I went to see my primary and he finally just said, “I don’t know. I just have never seen a case of ____ before. I don’t even know what direction to point you in right now. But going to the center in New York is your best bet.” I appreciated this honesty. But it also meant that one of the biggest original objectors was now on my side. But I had to be my own advocate and keep track of things even though people thought it was a sign of being crazy.

Various supplements
Various supplements | Source

Become More Educated About Medications, Even Supplements

Know what you are getting. Sometimes people take medications blindly. Or people assume that because something is “natural” that it is better for them. But individuals must be careful with supplements too. This is not true. As a naturopath in training, I was surprised to learn from my rheumatologist that he was thinking Celiac could still be on the table for me. Even though I take all natural supplements, he said people do not know that most over the counter medications and some supplements are not gluten-free. So if I am having reactions, it could be to the gluten and not the active ingredients.

Sometimes over-the-counter or generic brands seem like a better option for those on a budget. But read the labels. Often the ingredients are the same. I know that a simple allergy medication sent me to the ER. What was it? Claritin. I was told during a doctor’s visit vehemently to start taking it for allergies. That night I was in the ER. What was meant for allergies turned into something that obviously triggered something and I came home with the diagnosis of conjunctivitis, sinusitis, and bronchitis. Then a few days later, it morphed into laryngitis as well. Now just a few hours before my lungs were clear and I was given a clean bill of health. So, be careful. Unbeknownst to the doctors, and myself, more medications were added and I was not getting any better. But they figured Claritin D would help clear everything up better and faster, along with the antibiotics. This turned into an almost three month escapade of pain and suffering. Claritin D ended up being worse than regular Claritin. So, I did what I became accustomed to doing. Ignoring the advice of the doctors and stopping all the medications, except one that was not listed as “bad” for the condition some doctors and I believe I have. That night I was instantly better, and they were amazed at my rapid recovery.

Back label of over-the-counter medication
Back label of over-the-counter medication | Source

Read the inserts that come with medications. See what the expected side effects are. Also know what the medication is meant for. Sometime medications are used for symptoms not associated with the intended use of the medication. For example, those who suffer from fibromyalgia may be prescribed anything from antidepressants to anticonvulsants. So, it is important to know what side effects are expected not for your condition but the intended use.

Keep Copies of Your Own Records

Sometimes paperwork is delayed in getting to other practitioners. So it is handy to know what has been ruled out and what has not. It is also good to be able to show medications you have been given. It can be hard to remember the slew of things that worked and did not work over the course of decades.

Be Your Own Advocate

This basically goes back to Step 1. You know if something is terribly wrong or not. So, keep plugging away until you find someone who is willing to hear you out or believes you. This can be very time consuming, but it is your life we are talking about. It can be helpful to find support groups or others who experienced similar problems.

Please note that I am not a medical professional. All things written on this page are based on personal experience and training as an herbalist and naturopath. Please use discretion when considering advice.

Sources for Rare and Genetic Diseases

http://rarediseases.info.nih.gov/

  • National Institute of Health. Government site with portal to various information for rare disease and research.

http://www.genome.gov/10000409

  • Genetic and Rare Diseases Information Center. Government site with information for the public and health professionals.

http://www.kumc.edu/gec/support/

  • University of Kansas Medical Center. Extensive list of genetic and rare conditions.

http://www.philly.com/philly/blogs/healthy_kids/150996615.html

  • Article by doctor that discusses the difficulty in diagnosing rare and/or genetic diseases.

Helpful Information About Medication & Supplements

http://www.ncbi.nlm.nih.gov/pubmedhealth/s/drugs_and_supplements/a/

  • List of drugs and supplements with links to information about each.

http://kailibisson.hubpages.com/_4glj157ogw4v/hub/Drug-Interaction-with-Common-Foods

  • Discusses and charts food and drug interactions.

http://janikon.hubpages.com/_4glj157ogw4v/hub/The-Dangers-of-Mixing-Aspirin-and-Tylenol

  • Provides interesting facts about Tylenol and aspirin. It also details the dangers of mixing these medications.

Stephanie Crosby
Stephanie Crosby | Source

About the Author

Stephanie Bradberry Crosby is first and foremost an educator and life-long learner. Her present work is as an herbalist, naturopath, and Reiki Master. She spent over a decade as a professor of English, Literature, and Education and high school English teacher. She is a doctoral candidate in Education: Curriculum and Teaching. She runs her own home-based business, Naturally Fit & Well, LLC, which includes her all-natural, handmade, and customizable product line, Natural Herbal Blends. Stephanie loves being a freelance writer and editor on the side.

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Comments 14 comments

kelleyward 4 years ago

What a fantastic hub about a very important matter. SO glad you decided to share this with others! Voted up! Take care, Kelley


tabcrna profile image

tabcrna 4 years ago

As a health professional, I have to say that I admire your gumption to take on the doctors. Your article was fabulous and involves a lot of critical thinking on your part. I have realized that many of my patients (I am a nurse anesthetist)have extra problems from having too many medications that oppose each other, as well as the overuse of anti-depressants that simply mask the health issues.


StephanieBCrosby profile image

StephanieBCrosby 4 years ago from New Jersey Author

Hello Kelley. Thanks for reading. It was tough deciding what and what not to include. But, I'm glad I offered what I did.

Thanks again for reading.


StephanieBCrosby profile image

StephanieBCrosby 4 years ago from New Jersey Author

Hi tabcrna. It certainly did take gumption and realizing that being nice was not working. The more I talk to health care professionals, especially nurses, the more I find out that my experience is typical. And they tell me to keep pushing because they way we are ignored and treated is wrong. But I will certainly be an advocate for those who are not as outspoken as me. Thanks for the validation.


Xenonlit profile image

Xenonlit 4 years ago

Stephanie, side effects of things almost killed me and it took 2 1/2 years to find out why! It turns out that a rare genetic disorder was involved and the doctors were too lazy or cheap to do a simple test. Your advice is sound. As soon as primary doctors and specialists know that we are seeing other doctors and specialists, they tend to straighten up.

vote up and awesome.


DFiduccia profile image

DFiduccia 4 years ago from Las Vegas

Hi Stephanie,

What an interesting, well-written and informative hub! I’m sure this will be useful to many readers who have undiagnosed or incorrectly diagnosed medical problems.

My wife is taking Zumba classes, and although I’m a gym rat, I haven’t been able to muster up the courage to try it. …voted up.

DF


StephanieBCrosby profile image

StephanieBCrosby 4 years ago from New Jersey Author

Hi Xenonlit. I feel your pain literally. I was/am in the same boat as you. I cannot say how many times I was literally paralyzed and made worse by doctors giving me the cold shoulder. One time in the ER I was being told about discharge papers and they had not even taken my urine sample for testing. When the doctor saw it sitting there, he had quite the interesting look on his face. But then a nurse hurried up and swooped it up for "analysis." Amazingly I never heard any results.

We just have to keep fighting the good fight :) Thanks for sharing your own experience.


StephanieBCrosby profile image

StephanieBCrosby 4 years ago from New Jersey Author

Hey DFiduccia. I'm glad you found my hub interesting and informative. In order to not bore readers too much, I cut out more than enough content to make a whole other hub. I hope with more awareness that there are a ton of undiagnosed and mistreated patients that healthcare can be on the road to healing itself.

Good for your wife. I bet she is a happy and sexy woman. Now you just need to get yourself to a class too! I am meeting more and more men who keep asking me about it, but are quite hesitant. But men really do take Zumba classes. So go get 'em tiger!


Nicolas Andre profile image

Nicolas Andre 4 years ago from Paris, France

Thank for sharing this experience in a so complete details. We try to find some methods based on side effects evidences to improve diagnoses processes. Your testimony is very helpful as he encompass not only the problem but also detailed solutions.


StephanieBCrosby profile image

StephanieBCrosby 4 years ago from New Jersey Author

Nicolas Andre. You are welcome. Sometimes the only way practitioners and patients know they are not alone in the difficult process is if people share their stories.


rajan jolly profile image

rajan jolly 3 years ago from From Mumbai, presently in Jalandhar,INDIA.

Very interesting and the doctors many times feel the patient is hallucinating about the symptoms he is experiencing and would many times be found saying that you are experiencing this due to anxiety syndrome.

You did a good job here. Many of the problems are associated also with medications not suiting a particular individuals constitution.


StephanieBCrosby profile image

StephanieBCrosby 3 years ago from New Jersey Author

rajan jolly,

It is amazing how things that are considered commonplace (just giving the same medications to people) in Western culture end up hurting so many people. Unfortunately, here in the U.S., many doctors will simply dismiss or dump you (we call it being fired by our doctor as a joke) if you don't want to take the standard medications for particular issues.


Glenn Stok profile image

Glenn Stok 17 months ago from Long Island, NY

I never knew that people might have allergies to the inactive ingredients in medications. I wonder how many doctors understand that. Usually people stop taking medications that they have negative reactions to, but not knowing why. Your hub was very enlightening with useful information.


StephanieBCrosby profile image

StephanieBCrosby 17 months ago from New Jersey Author

Hi Glenn Stok,

Thank you for reading and commenting! I am glad you found my hub useful. You are right that some doctors are not aware of how sensitive some people are to different ingredients.

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