A Caregiver’s Four Lessons on Rare Disease
According to the National Institutes for Health, 25-30 million people in the U.S. are affected by an estimated 7,000 rare diseases. Many of those diseases are serious or life-threatening.
That’s nearly the same number of people with heart disease. And I would hope that each one of those people with a rare disease has a caregiver helping them navigate the often exhausting, lonely and frustrating experience of finding the right care.
Those patients plus caregivers add up to 15% or more of the U.S. population.
Although they are separated by their differing diagnoses, individuals with rare diseases often struggle through a similar set of problems related to health care, family life, employment, mental health and other aspects of living with a serious and often chronic condition.
I saw this firsthand. For several years starting in 2000, I was the caregiver for two family members with the rare disease of hereditary coproporphyria.
Here are four things to expect as an individual with a rare disease or as their caregiver.
Walking a Long Road to Diagnosis
Rare diseases are almost by definition hard to diagnose. It’s not uncommon for patients to struggle for 2-15 years to get a diagnosis.
For me and my then-new wife Connye, it was nearly six months between the onset of illness and an accurate diagnosis.
But she had suffered serious and unexplained symptoms for years before I met and married her.
For her teenaged son Brad, it was more than a year, including many months after his mom was accurately diagnosed with a condition that he could inherit.
Porphyria is tough because it can look like so many other conditions.
It’s an enzyme deficiency that can attack any part of the voluntary or involuntary nervous system. Because of this, some researchers have nicknamed the disease “The Little Imitator.”
So, when you and your loved-one are looking for a diagnosis, be patient, be persistent and trust yourselves.
During the diagnostic process, both Connye and Brad were told that it’s “all in their head.” This isn’t an uncommon experience for people with rare diseases.
One emergency department doctor said this to me about Brad even after I explained his mother’s hereditary condition and the fact that she was currently a patient in the same hospital.
If a diagnosis doesn’t feel right or complete, it probably isn’t. Healthcare workers may be the medical experts, but you are the expert of your situation.
Encountering Dead Ends
Along the road to an accurate diagnosis, you’ll likely receive advice, diagnoses, procedures and treatments that are dead ends.
For Connye, this included guesses about infectious disease, multiple sclerosis, depression, heart disease, pancreatic cancer and other conditions which led to treatments and procedures such as:
- Steroids
- Colonoscopy
- CT scan
- Transesophageal echocardiogram
- Radioactive gallium scan
- Psychiatric hospitalization
- Electro-convulsive therapy
Some dead ends can’t be helped. Many healthcare providers will be trying to do their best in the face of what can be scant and baffling evidence.
Again, trust yourself. Avoid non-reversible treatments such as a major surgery if you don’t trust the reasoning.
And on the flipside, if your path to getting a test that you believe would help is blocked, find a way around.
Luckily for us, the test for porphyria is easy and inexpensive: chemical analysis of a 24-hour urine collection.
But twice, we needed to go outside our insurance network to get the care we needed.
- First, to find an available neurologist, which led finally to an accurate diagnosis.
- Then, after the diagnosis, we again went outside of our network to start getting the treatment that Connye needed. Our approach was to get the treatment now and argue with the insurance company later.
Becoming a Rare Disease Expert
Seeking an accurate diagnosis of a rare disease is an involuntary education.
By the time you have a correct diagnosis, you’ve likely become an expert in your condition.
You will have spent more time researching your specific illness than nearly all medical personnel whom you encounter.
We saw this when we went outside of our insurance network to get treatment at an out-of-state medical school.
Even while under the care of the school’s porphyria researcher, we found that most of the nurses and medical students knew less than we did about porphyria.
You’ll need to help train your healthcare providers in how to care for someone with your condition.
For example, with porphyria there are classes of drugs that can trigger or worsen symptoms. Giving our healthcare providers that information to place in Connye and Brad’s medical records helped them to help us.
You are a primary way, and maybe even the only way, that providers will learn about these things.
Finding Your Rare Disease Community
Along the way, you’ll build up a network of other people who are on the same journey. This was true even 20 years ago, before the advent of social media platforms and smartphones.
Be a good traveling companion to others. Share what you’ve learned and the sources where you learned it. It’s okay to vent and commiserate at times, but generally a good attitude will win you more friends, information and insights.
Connye eventually connected with other patients and a great hometown specialist for porphyria through a group on Yahoo.com. (Yahoo shut down their groups feature at the end of 2020.)
Ironically, she’d been seen by another doctor in the same practice as that specialist, but no mention or connection was ever offered.
Many rare diseases have a genetic component. That means you might find insight, community and answers within your extended family.
Or — you might be the trailblazer who unravels a medical mystery that’s followed your family for generations. That was our experience.
Reaching a New Normal
Once you find an accurate diagnosis, you’ll feel like you’ve reached a new normal.
Diagnosis will give you clarity and a course of action. You’ll have a new body of knowledge and a new group of connections that you couldn’t have pictured at the start.
Life won’t be the same, even if your rare condition can be permanently cured.
The journey changes you, but you will get there.
Matthew Spaur is a marketing consultant, author and voice actor. His memoir “Making a Small Fortune” details his family’s struggle with porphyria while he ran a weekly newspaper. More on porphyria.
Top image: Freepik.com/katemangostar
Is Exercising Three Times a Day Overtraining or Obsessive?
How can you tell when exercising three times a day is harmful? Working out three times daily doesn’t necessarily mean an obsession or unhealthy fixation.
10 Gym Mistakes by Plus Size Women Wanting to Lose Weight
Here are 10 common workout mistakes that overweight women wanting to lose weight often make.
A Woman Diagnosed Autistic in Middle Age: My 10 Superpowers
Yes, autism DOES come with superpowers. I can’t split the Red Sea, but I have exceptional abilities that are clearly the result of an autistic brain.
10 Immune Boosting Tips and Tricks for Postmenopausal Women
Postmenopausal women need to incorporate these 10 immune boosting practices if they want to live their healthiest, longest life.
“Pimple” on Teen Girl’s Chin Diagnosed As Rare Cancer Called Rhabdomyosarcoma
One day you are a regular mom and the next day you are a cancer mom. It happens in an instant.
It doesn’t matter if bottle fed or breast fed or if your child ate McDonalds or broccoli, played sports or read books, if you are black, brown or have white skin, if you are an infant or a teenager.
Cancer knows no boundaries, knows no race. It seems to come from nowhere and then one day you find yourself thrown into this world of cancer where terms like chemotherapies, MRIs, radiation, PET scans, nausea medicines and mouth sores become your everyday vocabulary.
My oldest daughter, Katie [above], was 15 when she was diagnosed. She was a star athlete, ate all her fruits and vegetables, did all the right things, and it didn’t matter.
What started as a little pimple on her chin turned into a malignant tumor, a rare form of rhabdomyosarcoma, within a matter of months.
I recall feeling like this must be the start of her “acne” days since she was a hormonal teenager.
We went through all the expensive forms of skin care to no avail. We ended up seeing two dermatologists, one urgent care visit, two emergency room visits before we finally got some answers as to what this mass was growing on Katie’s chin.
No one was thinking cancer during those months and when we finally got the proper diagnosis, it was like the wind was knocked out of all our sails.
Instead of Katie’s sophomore year in high school being filled with football games, homecomings and prom dates….it was filled with various forms of chemotherapies, 28 days of radiation, a bald head, not to mention hundreds of hospital visits.
Karen and Katie
She was robbed of her normal teenage experience the day of diagnosis and our family was robbed of the normalcy of a carefree family life.
Katie is now (as of 2022) thankfully thriving as a senior at Valdosta State University.
She still gets scans and checkups every six months. The protocol that she endured for a year had not changed much since the chemotherapies she had to take were invented back in the early 1960’s.
Thankfully, this 50+ year regime did the trick for Katie. She was lucky.
But the fears of relapse will never be far from this mother’s mind. Knowing that there are no “new tricks” if she does relapse makes me catch my breath.
The fact that Katie’s drug protocol and most other childhood cancer treatments have had no significant changes or improvements in decades was one of the most upsetting pieces of knowledge I learned when my family was thrown into the world of pediatric cancer.
When I think of all the other progress that has been made in literally all other industries of life in 50 years, and no real significant changes to pediatric cancer treatments, honestly makes my blood boil.
The only reason for this is that pediatric cancer treatments is still considered too rare and therefore not a “money maker.”
Less than 4% of federal funding goes towards pediatric cancer treatments. I know we all feel our children deserve so much better.
The thing is, it is the treatments themselves that normally lead to a child’s death.
These treatments are so toxic that even though they kill the cancer, they leave behind such destruction to the child’s body and there are just so many devastating side effects. This needs to change.
During Katie’s battle, she was treated by the amazing staff of Children’s Healthcare of Atlanta.
While there, we learned of an amazing organization called CURE Childhood Cancer. This group would bring us meals while Katie had her inpatient visits, provided counseling services, as well as included us in various activities throughout the year that provided much needed smiles.
Even though our world had been thrown upside down, there was such comfort to be surrounded by people who truly understood what our family was going through.
Once Katie finished treatment, I knew I needed to be part of moving the mission forward of spreading awareness about lack of funding for childhood cancers. I joined the staff of CURE Childhood Cancer a few months after Katie’s completion.
CURE’s mission is to conquer childhood cancer through funding targeted research as well as support families currently in the battle.
CURE invests over $4 million annually to very promising research. At the same time CURE is walking alongside families who are facing a cancer diagnosis by providing financial assistance, meals, counseling and so much more.
I truly believe we will be able find a CURE in my lifetime and so thankful to work for an organization whose sole mission is to do so.
September is Childhood Cancer Awareness Month. This is a time to shine the light on the realities of childhood cancer, emphasize the importance of life-saving research, and join to make a difference for children diagnosed.
To learn more how you can help, please visit https://curechildhoodcancer.org.
