11 Tips For Navigating Rare Disease

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When you’re thrust into this world no one wants to live in, you become sort of an expert on your loved one’s rare disease. You scour the internet for information, read studies, and consult with doctors across the country.

It’s the club that no one wants to belong to, but once the doctor says you or a loved one have a syndrome they’ve barely ever heard of, have no idea how to treat, and have only seen once in the whole time they’ve been practicing medicine, you immediately start looking to Google.

As my daughter started getting more and more ill 8 years ago, we were desperate for answers to help her get well. With each new diagnosis, and each one being rarer than the next, we immersed ourselves in research on treatments, medications, therapies, and attended summits both in person and online.

We communicated with others whose child or loved one had been suffering and found a wealth of information from these families and the doctors we spoke to.

As a rare disease and chronic illness advocate, I learned more about my child’s disease than most doctors or clinics knew and took every opportunity to educate them.

What Is Rare Disease?

A rare disease, or orphan disease, is any disease that affects less than 200,000 people worldwide. There are approximately 7,000 known rare diseases, with more being recognized each year as new research emerges.

There are very few to no treatments for rare disease, making it difficult to find a doctor for treatment.

If you are able to find a doctor willing to attempt treatment, they may not know how to navigate your rare disease. Non-FDA-approved treatments may be tested, which are typically not covered by insurance. Your doctor may have to file appeals to the insurance company to get things covered.

Occasionally, the symptoms of rare disease may not fit into any known diagnosis. For example, if genetic testing is done and there is an unusual set of mutations or abnormalities they haven’t discovered before. In this case, doctors may name a rare new disease.

Doctors have just finished discovering the entire genome (our complete set of genes) and are still discovering new genetic disorders. While most rare diseases are genetic, there are also infectious diseases, rare cancers, and rare illnesses caused by toxic agents.

Who Is Advocating For Rare Diseases?

Some organizations are dedicated to advocating for and supporting those with rare diseases. The National Organization for Rare Diseases (NORD) is a nonprofit dedicated to advocating for those with rare diseases. They have a list of rare diseases, information on current studies, and links to organizations affiliated with many of the diseases in their database.

Orphan Disease organizations fund research into new treatments and get drugs approved for those suffering from rare diseases. The National Institute for Health (NIH) and the Food and Drug Administration also provide information about rare diseases.

Tips For Navigating Rare Disease

1. Seek out information

Use Google search but choose reputable sources that are backed by research studies. Contact large hospitals connected with universities; they are usually the best and ask for resources and referrals. Search Facebook groups or other websites that were created for those diagnosed with rare diseases. You may find one with your exact rare disease and be able to connect and share information and support.

Attend a rare disease conference in your area or watch one that was recorded earlier in time. Check with NORD, the NIH, or genome.gov for organizations affiliated with your rare disease. Knowledge is power! When you’re dealing with a disease with little to no information, finding whatever information there is can be very helpful.

2. Don’t give up

If your current doctor doesn’t know about your rare disease, ask to be referred to a teaching hospital or a doctor you’ve found while searching databases. You may have to travel to find a doctor or hospital that is willing or able to treat you. Find support groups, as diseases with only a few cases still have parents or patients that seek out others.

It may take time to get answers; be patient.

Lean on family, friends, and those willing to help. If at all possible, find your tribe. Look for those who have also been through a rare disease diagnosis and understand your struggles. Remember to ask for help. Start a fundraiser for medical bills and treatments that aren’t covered by your insurance.

3. Keep an open mind

Consider experimental treatments suggested by your doctor as they may be the only thing available. Try new treatments and other ideas suggested by your doctor. Always ask about safety and side effects with any new drug or treatment and make an informed decision. Be willing to also consider alternative methods such as acupuncture.

4. Take care of your mental health

Getting a rare disease diagnosis is a difficult thing. Find someone to talk to, go to therapy, and remember it’s okay to grieve the loss of your health. Be gentle with yourself, your emotions may be all over the place.

If it’s your child with a rare disease, make sure you look into respite and take breaks. Practice self-care, do nice things for yourself, and try to keep a positive attitude. Having a rare disease is like a marathon and can take years before you have answers. It’s important to understand it can be traumatic and have an impact on your mental health.

5. Sign up for clinical trials

Clinical trials are where new drugs and treatments are discovered and possible cures are found. Contact large medical institutions like Johns Hopkins and ask about trials for your disease. Get involved in a research study and take surveys. Research and research studies are what find cures!

6. Start an organization

If there’s not an organization for your disease, start one. Start with a rare disease fair and ask questions about how to start an organization or a support group. Look globally for support groups and organizations, there may be others in the world with your disease. Start a fundraiser to help fund rare diseases, which may also help with awareness of your rare disease.

7. Don’t stop advocating for yourself or your loved one

It’s exhausting having to explain your disease to each doctor you meet, but education is the key to knowledge. Take every chance to educate a new doctor you come in contact with. Remember you know you and your disease or your loved one’s disease better than almost anyone. It’s okay to tell doctors what you know and what has and hasn’t worked in the past. Keep explaining to your family about your illness and the help you may need.

They may not realize just how sick you are and that you need their support. Advocacy is very important. It may feel like it’s you against the world, which makes advocating for yourself or a loved one even more important. Don’t rely on doctors to advocate for you, find a trusted team of friends, social workers, and others who will be there for you.

8. Keep track of new or worsening symptoms

Let your doctor know if you experience any new symptoms or if your symptoms worsen. Keeping a journal of symptoms or symptom diaries can help with research. Let your doctor know before taking supplements or using treatments that weren’t prescribed.

9. Get involved with research

Research for rare diseases often piggybacks on other diseases. This means if researchers find that your rare disease gene is in a similar place as a gene they are researching, research can also be done on your disease. This is a complicated process and I’d suggest contacting a large research hospital for more ideas on how to do get involved with this type of research.

10. Don’t be intimidated and be prepared

Doctors will often be intimidated by a disease they know nothing about. Sometimes they get defensive when you know more than they do. It’s okay to realize you may know more and to speak up if something doesn’t seem right. Doctors may have a medical degree, but that doesn’t necessarily make them an expert in your disease and that’s okay.

Keep asking questions. Keep seeking new treatments even if doctors tell you there’s nothing more they can do. New treatments and medications are being discovered every day.

Stay strong. It’s easy to feel defeated when there are lots of unanswered questions. Doctors and friends have a hard time seeing invisible illness so they may need reminders. Take someone with you to appointments. Often times when you’re sick or stressed you won’t remember what happened at the appointment.

Write down everything. You might think you will remember, but the small details may be easy to forget. Prepare ahead of time. Write down questions or concerns you want to discuss with your doctor or team before at each appointment.

11. Remember to love yourself

You or your child are special just the way they are. Your disease doesn’t define you. Find your voice and stay positive. Enjoy the little things and think positively.

Receiving a rare disease diagnosis can be overwhelming and bewildering as you try to navigate the health care system. The feelings you may experience can be all over the place, from anger and the ‘why me’ feelings, to feelings of hope and determination as you advocate for your health. As a parent of a child with a rare disease, I leave you with my best advice:

First, this diagnosis doesn’t define you. Find ways to celebrate your life or your child’s life, regardless of how difficult the diagnosis was. Find support wherever it’s available, whether it’s old friends or the families you have just met, you need people in your tribe.

Take care of yourself more than just medically, always consider your mental health as well as the physical. Keep advocating even when it’s exhausting, this is the only way to get answers.

Don’t ever, ever give up hope, keep fighting because doctors and scientists are gaining knowledge through research; and discovering, new treatments, and medications every day. Finally, know that you are not alone. Reach out to others who have been through diagnosis, treatment, and beyond.

Find support. You are loved. You are worthy. You are enough.

This article was submitted to Love What Matters by Christi Hosking and her daughter Amandelyn Salzman. You can follow them on Instagram. Join the Love What Matters family and subscribe to our newsletter.

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