When our daughter Lexi was born we could never have imagined the journey we were about to undertake. This is our story about how we came to be medical researchers heading a non-profit organization focused on curing a rare genetic syndrome we had never even heard of.
From her earliest beginnings Lexi was a fighter. She arrived into the world, slightly earlier than expected, showing signs of respiratory distress. She spent her first four days on CPAP and after a couple of weeks that seemed like an eternity she finally came home. In the neonatal intensive care unit she was known as "the feisty one".
For the first six months of her life she thrived and we figured her medical challenges were over. However, when she was six months she contracted a chest infection which turned to pneumonia. Not long after that she came down with RSV (respiratory syncytial virus). She started having daily rashes, which were diagnosed as allergies. We were not convinced of the diagnosis and after trial and error came to our own conclusion that the rashes were linked to the sun. At nine months we were concerned that Lexi still wasn't trying to crawl, in fact, she never put weight on her wrists. It was around the same time we noticed lumps on her wrists. We felt we were being overly cautious and hoped it was just baby fat, but of course it didn't stop of us from referring to doctor google. What we found was very unsettling and led us to speculate that she had an autoimmune condition. We booked an appointment right away to see our family doctor - the appointment was the day before her first birthday. Our doctor suspected it was serious and referred us to a rheumatologist the next day.
Our memories of Lexi's first birthday were not of cupcakes and celebrations. It was the day we first learned that our little girl was suffering from juvenile arthritis. She spent her special day getting x-rays and lab work and meeting her rheumatologist - someone we would come to spend much of our time with. We learned that our daughter was suffering excruciating pain and that the reason she didn't crawl or walk was because of the pain in her joints. Every joint in her fingers and toes were swollen with inflammation, not baby fat. Her neck didn't move properly because of arthritis. The anguish we felt at the moment is indescribable, hearing of the suffering she had been through. In that moment, the future we dreamed of for our daughter was changed as we spoke of wheelchairs and joint replacements, loss of vision, the possibility of life threatening infections, medicines like steroids, and methotrexate and biologics, all with side effects that sounded as scary as the disease itself.
The years that followed were a dark period for us. The worry was relentless and the fear for her future was overbearing. We didn't know how long we would have with her and the thought was sickening. As the disease progressed Lexi needed more and more attention and nights were long as she frequently awoke in pain. We became medical researchers and developed networks with specialists and parents dealing with juvenile arthritis. We learned everything we could about diet and alternative medicine. Our first sign of hope was through an article in the New York Times about a boy with arthritis who had been cured through a specialized diet and supplementary medicine. We tracked down the doctor who oversaw the case and started the same protocols with Lexi. Unfortunately it didn't work for her.
We started her on prednisone and never stopped using it. We were warned of all the terrible side effects, but really it was the only option. Without the steroid she couldn't move. Within days of starting prednisone, Lexi took her first steps, but the side effects were terrible. Whenever we would taper her dosage the symptoms came back in full force. We started her on Methotextrate- again another list of terrifying side effects, and unfortunately it didn't seem to work either. From there we tried Enbrel and while it started out giving her some relief, it was short-lived and came with rashes. This time the rash was different. We had a bad feeling about the rash and requested a referral to dermatology.
Six months later we walked into the dermatologist's office at BC Children's Hospital and she told us she had a sinking feeling she knew what Lexi had. She took a biopsy of Lexi's rash and once she got the results that it was a granuloma she recommended genetic testing to confirm what she suspected was Blau syndrome. The next two months we tried to stay hopeful, but when looking at images of kids with Blau syndrome on the internet it was hard to maintain a positive outlook. There was a striking resemblance. Just before her third birthday Lexi's diagnosis was confirmed - she had Blau syndrome. Knowing that it was a genetic disease took away our hope of finding an easy cure, or remission, as we had once hoped with juvenile arthritis. Not long after her diagnosis we met with a specialist who asked us what Lexi's life expectancy would be - not a question you would ever dream of being asked about your child.
Once again, we turned to medical research and building networks. The day of her diagnosis we connected with a group of families on Facebook, which has been our most valuable resource and support group. The information we have learned from these contacts has proved invaluable. We subscribed to medical journals and delved into past studies on medications used for Blau syndrome and their side effects. Our geneticist advised us to become the expert on Blau syndrome.
Since her diagnosis we researched and tested different therapies. Through this research we have learned of exciting ways that scientists are curing genetic diseases. We spent countless hours trying on our own to find a cure for Lexi. We realized we couldn’t do this on our own, we needed help. And that is what led us to start this non-profit organization. We wanted to locate others with this rare disease and build a database to document individual symptoms and treatment results and to find out how they link to gene variants. We wanted to develop a team of medical specialists and researchers to think about every possible solution. We know there is an answer - we just needed to find it.
Living with a rare disease is an isolating experience. We had the good fortune of meeting with another family who has a child the same age as Lexi who has Blau syndrome and it was the best feeling to connect with people who truly understand. There are no words to describe the anguish we felt when our dear friends lost their child to Blau Syndrome.
In October of 2019, the unthinkable happened and we lost Lexi.
Through the grief and pain, we have continued fighting for the Blau community in her honor. No patients should endure what Lexi experienced and no families should feel the pain from losing a loved one to Blau Syndrome.
Lexi’s big brother, Felix, leads the charge in sharing her story and highlights the importance of working toward a cure. “I learnt from Lexi that age is irrelevant when it comes to advocacy.” Please partner with us in raising awareness, funding much needed studies and donating your skills.
This is an age where anything is possible.
-Troy, Cheryl-Lynn Townsin and Felix Townsin