Updated: Jun 5
13 year old Claire Barrow turned her diagnosis with the rare bone disease hypophosphatasia (HPP) into action, and now she is connecting people from across the globe with others with their own rare conditions, and has become something of a Rare Guru!
When you look at me, I look "normal", I act normal and you would think that I am just a regular kid.
I did too until I found out about something that made me anything from normal, something that made me "rare".
Rare could mean different things to different people. For some, it means standing out in a crowd. To others it means being different. But to me, it means being the one in a million who have my rare disease.
It wasn’t always like this. If you asked me in early 2019 what I associated the word “rare” with it wouldn’t have been rare diseases or anything relatively close. That’s because I didn't know any different, I didn't know that something was wrong with me. I just assumed I was fine because I looked and acted “normal”. I was never the person to look for problems if there was something wrong with me like a scraped arm or a sprained knee. That was up until the Summer of 2019.
I had still been experiencing bone and muscle pains but still didn't think anything of it. But then my mom hit us with some major news—she had been diagnosed with a rare metabolic bone disease called hypophosphatasia (HPP).
She talked about the symptoms, early tooth loss, bone fractures, and aches and pains, all of which I had experienced.
My mind raced during that conversation. Did I have it? No, I couldn’t it was just my mom. But then she said two words that shocked me, “It’s genetic.” I didn't know much about diseases but what I did know was the word “genetic” meant that it runs in the family.
Claire immediately thought about some of her experiences as a a small child, tooth loss, fractures and aches and pains. Could this genetic rare disease also be affecting her?
From that moment I knew I had it, there was no doubt in my mind but I had to get officially diagnosed at the Mayo Clinic. During the time in-between testing for hypophosphatasia and getting the results confirming I had it, I prepared myself for the worst but hoped for the best. While we waited, so many thoughts raced through my head and I didn't know what to do.
After I was diagnosed, I started developing anxiety about minor bone pains and about what everyone would think of me. I worried my teeth would break off or start falling out. I wished I had someone my age who had already been through my diagnosis that I could talk to. Then I thought about that a little more. Why can’t I have someone to talk to? The current social media didn’t help because no one puts “I have a rare bone disease” on their profile page. Then it hit me. What if there was a safe environment where teens, adults, and caregivers could connect with one another and help each other with their diagnosis?
"My brother Hill and I pitched the idea to our parents and it grew into what is now the RareGuru: Rare diseases app."
RareGuru is an app that connects patients with similar rare diseases and chronic illnesses to each other and is available for free on Apple and Android devices. Users can message, track their symptoms, and connect with lots of other people like them. There is also a really cool map where you can see all the other people in the world using the app with any of the 7,000 diagnoses in our database. This helps them to not feel alone during their diagnosis journey. When I created RareGuru I thought of ways that I can help people not go through the same journey as we went through, making things easier for them. I wished I had someone to talk to because it would have saved a lot of time, confusion, and anxiety.
When we created RareGuru I thought it was very important to include mental illnesses such as anxiety, depression, and obsessive-compulsive disorder because when dealing with a mental illness it is so important to not feel alone and to talk to people. When dealing with my diagnosis I struggled a lot with anxiety and I think many people do when going through a life-changing diagnosis, so including mental illness diagnoses for users to connect on will help a lot of people as well.
If you ask me now what I think of when I hear the word rare, the first thing that comes to mind are rare diseases. Not necessarily the diseases themselves but the community, the people who have been diagnosed. And of course, the RareGuru app is amazing but what I admire most is how we took what could have been a devastating diagnosis and turned it into something to connect and empower others.
"If you are struggling with a rare disease diagnosis just remember, you are the same person you were yesterday you just found out new information about yourself. That rare information is power, use it to heal."
You can learn more about our family’s journey and RareGuru below:
Written by Claire Barrow