At only 13 years old, Claire Barrow is helping to bridge the gap between 400 million people worldwide that suffer from a rare disease. She and her family created the app RareGuru in the hopes of connecting millions of rare disease and chronic illness warriors to each other. Claire and her mother were recently diagnosed with Hypophosphatasia, and they struggled to find information about their condition, especially as it varies in severity. They had to become "gurus" to understand their health, and RareGuru was designed to connect patients and caregivers, empowering them to support and learn from each other.
Hypophosphatasia, or HPP, is a rare genetic disorder characterized by the abnormal development of bones and teeth. It is caused by mutations in the tissue nonspecific alkaline phosphatase (ALPL) gene. The ALPL gene encodes for an enzyme that helps to remove clusters of oxygen and phosphorus atoms from other molecules. The enzyme is essential for the process of mineralization, which explains how minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization allows for the formation of bones that are strong and rigid, as well as teeth that can withstand chewing and grinding.
Mutations in the ALPL gene, however, can result in different forms of HPP. The enzyme that is critical for mineralization can have a reduced ability to function or be completely defective, depending on the type of mutation. Impaired mineralization results in bones that are soft and prone to fracture and deformity. This translates to the six major clinical forms of HPP that range from an extremely severe form that can cause stillbirth to a form associated with only premature loss of baby teeth with no bone abnormalities.
I had the honor of speaking with Claire to discuss RareGuru and learn about how her experiences inspired her to launch the app.
Claire was diagnosed with HPP last summer, soon after her mother received the same diagnosis. When her parents sat her down and explained her mom's diagnosis, she says there was one word in particular that stuck out: "genetic." From her science classes, Claire knew that the genetic mutation could be passed down and immediately thought that either she or her brother could have HPP.
Despite her mom having already received an official diagnosis, Claire's diagnosis process was lengthy because of the limited number of specialists. She lost some of her baby teeth before the age of two and broke bones very easily; the warning signs were there. However, HPP is so rare that her physicians did not recognize it.
As a student in seventh grade, Claire was concerned about the perceptions that her peers might have of HPP. Middle school is often a tumultuous period, and the additional, newfound pressure of dealing with a chronic, rare disease resulted in anxiety for Claire. Fortunately, Claire has been able to be open about her experience and has received incredible support from her friends.
"Now, I joke around about it a lot because dark humor is kind-of the way for patients with rare diseases to cope."
Upon asking Claire about how her diagnosis has influenced her academic and social live, she recalled a conversation that she and some classmates had in a science class, during which they discussed rare diseases. Hearing her teacher talk about other rare diseases, as well as watching her peers engage in the dialogue, made her feel accepted. In that moment, Claire recognized that her friends did not think it was "weird" and they wanted to support her journey.
During her diagnosis process, however, Claire felt as if she only had her mom. While they were battling the same condition, they were going through completely different experiences. She felt alone and turned to google searches, which tended to result in viewing quite severe cases of HPP that she could not relate to. Quite frankly, Claire says that she was frightened by only seeing the worst possible scenarios.
"I wanted to create an environment with RareGuru where you could talk to somebody who has the same condition, is the same age, and has the same severity as you so you can see how they are living their life with the same disease."
Claire has not yet found someone her age with HPP, but she hopes to do so through the app as well as her video series, Rare with Claire. However, Claire and her team have added a mental health component to the app, so she has been able to connect with other people that have anxiety.
In terms of the future, Claire hopes that RareGuru will evolve into a household name in the health community. She hopes that people undergoing their diagnosis journeys can connect with others that can share and guide each other. Even though everyone with an invisible illness has a unique experience, it can be incredibly helpful to learn about what works for others in the same position to tailor it to your personal case.
This reigns especially true for Claire, as doctors were hesitant to believe her and her mother about their condition. The biological markers were evident from the many tests they had to take, but they both had to trust their instinct and find other specialists that were more understanding. It was difficult for Claire to adapt to living with an invisible illness and learn to advocate for herself, and it has transformed her outlook on life.
"You never know what is going on. It could be physically, it could be mentally - but it is really hard to show it on the outside with your words and expressions."
She wants other children with an invisible illness to know that they are not alone. Claire suggests sharing your experience with close friends and thinks it is important to find a strong network of support. She hopes that RareGuru can help people find that.
Watch the full interview on our YouTube channel (and be sure to like and subscribe!):
Thank you to Claire for talking to me about her experience with HPP! Go download her app, RareGuru, and check out our feature on Rare with Claire.
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