How to Support a Friend or Family Member Dealing with a Rare Disease Diagnosis

I have been writing for this website for a little over 2 years. Neatly collecting, reading, and reporting on stories of people with rare conditions and disabilities. Little did I know I would soon join the group of 25-30 million Americans living with a rare disease.

I have had short episodes of vertigo attacks and shaky vision ever since I was a little girl. But my symptoms started to consistently become more frequent and chronic as the years went by and three years ago things reached a point where I was constantly feeling off balance and suffering from bad nystagmus (or shaky vision). In October of 2016, I started the long, often discouraging, expensive, and cumbersome process of searching for an answer to my health woes: enduring appointments with physical therapists, ophthalmologists, a neuro ophthalmologist, acupuncturists, radiologists, an MRI, and more.

Almost three years into my search, I recently received my diagnosis: A Chiari Malformation.

A Chiari malformation happens when a person’s skull is abnormally small and there is not enough room for the brain. Because of this, there is pressure on the brain and part of it is forced down into the spinal canal. This occurs in about 1 in every 1,000 people but not everyone has symptoms or will need surgery.

Our brains have cerebrospinal fluid that bathes the brain with nutrients as it flows through ventricles and around the brain and down the spinal cord. My Chiari has caused a blockage of this fluid and now there is a small sausage-like cyst sitting in my spinal cord. This condition is called syringomyelia. Left untreated this can cause irreparable nerve damage, paralysis, and in some cases death. So, it’s off to brain surgery for me, in a process called posterior fossa decompression. My surgeon will remove part of the bone in my skull and spine to create more room for my brain. This likely results in a lessening or removal of symptoms for most people. Plus, goodbye cyst in my spinal cord! At the time of me writing this, I’ve got nine days to go until my operation.

Hopefully you will never be facing brain surgery or even a rare disease diagnosis, but you may have a friend or loved one who will. And if you do, here are three things to remember to support them:

  1. Encourage your friend to go to her appointments and not give up searching for a diagnosis.

When someone has a rare undiagnosed disease, they often have to go to many doctors and getting an answer can take months or years. They are likely dealing with astounding and baffling symptoms and it can be discouraging to go to doctor after doctor with no answers or cure in sight- especially when symptoms are getting worse and worse. Having a friend who would remind and motivate me to keep going, making appointments, and search for answers, helped encourage me at times when I was truly discouraged.

 

  1. Offer to go to doctor’s appointments with your friend

Another helpful thing during this time was someone going with me to my doctor appointments. As my symptoms progressed, my dizziness and vision got worse and worse and soon I was not able to drive at night at all and driving has become scary for me. Having family members and friends offer to take me to the doctor’s office is so helpful! The first time I went to the neurosurgeon my best friend was by my side and her moral support was extremely soothing and comforting at such a scary time. My Dad has also been to countless doctors’ visits with me and will be there on the day of my surgery.

  1. Offer a listening ear and be compassionate

This one should be a no brainer. If a friend does reveal that she has been going through health complications be patient, compassionate, and listen. I have unfortunately had the displeasure of telling a friend for the first time what I was going through and having her completely dismiss it and begin telling me about a family friend’s health issues that had nothing to do with mine. Somehow, I ended up offering a compassionate ear and words of consolation to her while receiving none. Yikes! It can be extremely hard and vulnerable to open up about a rare disease diagnosis, especially if it is an invisible disease or there is little known about it. So if someone opens up to you, listen.

Even if you cannot offer your time to a friend in need, just listening to them and telling them these simple words can speak volumes: “Im so sorry you’re going through this, you will be in my thoughts, and I wish you a speedy recovery (healing/comfort/peace).” This is an easy thoughtful statement you can offer to anyone who discloses health issues or an upcoming procedure.

When facing a rare disease it is so easy to feel isolated and suffer alone and in silence. If you have a loved one going through this, they will truly appreciate your presence, love and support.


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