Yesterday was Rare Disease Day and leap year day. What are the odds? Every four years actually.
Rare Disease Day was started in Europe in 2008 and in the United States in 2009. It is a day which is dedicated to the over 300 million people worldwide who live with a rare disease. Rare Disease Day is celebrated on the last day of February as a way to increase awareness and advocacy for those who fight rare diseases every day of their life — leap year included.
When my daughter Johanna was diagnosed as an infant with a mass on her brainstem, we had no idea what it was that was compressing her brain and threatening our baby’s life. After the tumor was resected and the pathology reports came in from centers around the U.S., we still had no clue. The doctors knew the tumor had a lot of blood and brain tissue surrounding it and they surmised that Johanna had a stroke before she was born. But still, it didn’t add up.
The neurosurgeon was optimistic that it was a strange but benign malformation that would never return again. My instincts told me otherwise. After the first resection, Jo developed a large collection of fluid in the back of her head, where the skull had been removed to access the tumor. We knew it was cerebral spinal fluid and hoped that it would dissipate. But when it didn’t a few weeks later, the surgeon placed a shunt in her brain to control the fluid on the brain.
Although hydrocephalus is not considered a rare disease, there is still no real cure. Shunts aren’t foolproof (they malfunction frequently) and shunt hardware cannot replicate the natural flow of fluid from the brain to the spine in people who don’t have this problem.
A year later, when Jo developed multiple bleeds in her brain, including a reoccurrence in the brainstem, she was diagnosed with multiple cavernous angiomas. I remember when the neurologist handed us an article from a medical journal on cavernomas and said to us,
“This is the only article written on the subject. You now know as much as I do about cavernomas.”
Eight years and many brain surgeries later, we got a call with results from a DNA test our family had submitted when Jo was a toddler. They told us Johanna had CCM3, a very serious genetic mutation that causes multiple brain hemorrhages, brain tumors, scoliosis, and seizures. It was so rare that the only known individuals with the disease were part of this study which discovered the genetic mutation. At the time there were less than 10 people identified in the world. By the end of that week, I personally knew five of them and met the rest later online and at a patient conference in Washington, D.C. Now, there’s around 50 and I’ve “met” most of them on Facebook.
The news was life-altering for us and came at a time when I was just beginning to realize that there was a very real possibility that my daughter was not going to get better. We’d met too many families of kids with brain tumors that were cancerous and people mistakenly consoled us with comments like “At least it isn’t cancer.” And yet, those families had options for a cure and the possibility they could put this difficult time behind them to lead a “normal” life post-cancer treatment. We now knew we did not have those options. Even among the small groups of people diagnosed with CCM3, my daughter appears to have a more aggressive expression of the disease.
It’s been 15 years since we found out that Johanna belonged to this exclusive club that none of us wants to belong to and the research and information has grown exponentially — largely thanks to patients and family caregivers who advocate for a cure. The Angioma Alliance was started by a mother whose daughter was also diagnosed in infancy. It has grown into an amazing consortium of support for families and researchers who are all focused on finding a cure.
While I appreciate all the research and advocacy, I’ve come to the realization that a cure for my daughter may possibly be beyond reach. The last few years have taught us just how fragile her brain and body are and the risk/benefit criteria for treatments seem to lead to greater risks that we and many of her doctors just aren’t willing to take.
However, I chose to view this life we live through the lens of the word “rare.”
The first definition of the adjective “rare” begins with quantitative words which describe something as “infrequent and scarce.” In describing a disease- we can all be grateful for that.
The second definition gets more interesting: “not usually found and consequently of more interest and value” — valuable. And the third definition is the one my daughter reminds me of every day: “exceptional and remarkable.”
I could have spent the last 15 years bemoaning that my daughter has this rare disease for which there is currently no cure. Trust me — it’s heartbreaking. But instead I choose to see the rare value in our midst.
There are rare opportunities (like the time I was interviewed on Fox News on Rare Disease Day) or more importantly, watching Jo perform on stage at the NYU Kimmel Theatre for the last five years. The last time was just weeks after her 105th surgery.
I have the rare gift of being able to do all the fun things — the field trips, the Disney movies and reading bedtime stories — just like I did with my older three kids while they were growing up – only now with my 23-year-old daughter. I relive childhood memories over and over all because my daughter is a rare and exceptional gift.
When we purchased this house where we’ve lived for the past two years, we knew it was a rare find – a valuable investment at a miraculous pricepoint we could afford. But it took vision to see beyond the weeds, the trees and the vines that covered the house and the yard which sat empty for 10 years.
Already our investment has paid off in practical ways and in adding value to our quality of life. We discovered a rock garden and a pond beneath the weeds which attracts humming birds and butterflies to our backyard paradise. When the leaves drop in the fall, we have a beautiful winter water view that calls me to ponder God’s miracles every day.
This house didn’t look like much when we invested- but our rare find is a place where our dreams are coming true.
Rare doesn’t mean scarce when we invest with our hearts. And there is none such greater rare treasure in my life than my daughter Johanna. Our celebrations of Rare Disease Day are very little about the disease and everything about the rare gift of my daughter’s life.
I am grateful beyond measure.
All of us have rare situations in our lives that at first glance may not appear to look like a gift. Health challenges, difficult relationships, financial issues may blindside us when they appear.
Take a leap of faith in this new decade and year. We have one more day to this year than we did in the last three. Believe that within your lives lies a rare treasure waiting to be uncovered.
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