Catherine Thibeault Fundraising for Boston’s Run to Remember for her Daughters

Editor's note: Catherine Thibeault is no longer running in this race, but is still raising funds on behalf of family friends also affected by PH.  

Two little girls, Kate, 8, and Addison, 4, Thibeault call Woonsocket their home.

Like all sisters, they fight; they jump on couches, take dance and art classes, and say whatever comes to their mind without a thought. However, there is more to them than meets the eye. 

It was a sad day for parents Catherine & Christopher Thibeault in April of 2010 when they heard the news that their daughter Kate’s  life had changed forever.

Kate and Addison were diagnosed with a rare genetic disease called Primary Hyperoxaluria (PH). Their disease is so rare that it is afflicts one in a million people.  

Catherine & Christopher had always joked about playing the lottery and those odds. They never thought PH would be their one in a million times two. In patients with PH, the liver creates too little of the enzyme alanine glyoxylate aminotransferase or AGT. Because of this defective enzyme, increased amounts of oxalate and glycolate form in the body causing the kidneys to suffer.

Unfortunately, because oxalate cannot be further metabolized, and it can only be eliminated from the body through the kidney, it causes multiple hard glass-like kidney stones to form, and oxalate crystals to deposit throughout the body. Kate & Addison, because of the severity of PH are required to take medication and drink at least 3 liters of fluid, every day, day after day, to flush their kidneys, and they still continually form kidney stones.

Life sometimes gets in the way for the girls to keep up their treatment. They still get the normal flu and colds, which can limit their fluid intake, and sometimes they just don’t want to drink so much. Their parents watch them closely at these times, as the slightest changes can prove to have horrible consequences for them. At present, there is no cure for Primary Hyperoxaluria, and the limited treatment options that exist are largely ineffective.

As a result, Kate and Addison are forced to endure painful surgeries and procedures to remove the stones, only to have them re-form some time later, sometimes within a few weeks or months. Their parents say it is so horrific to watch them go through this excruciating pain. For many PH patients, the cumulative damage from the stones ultimately results in renal failure, requiring a kidney and liver transplant to prolong and save their lives.

Although PH is rare, they are not alone. The Oxalosis and Hyperoxaluria Foundation (OHF) was formed more than 20 years ago by parents of children to find a better treatment or cure for those suffering with the disease. From these humble beginnings, the OHF has made impressive strides, including funding Mayo Clinic Hyperoxaluria Center, where Kate and Addison’s genetic testing confirmed their diagnosis.

Mayo Clinic Hyperoxaluria Center is the only clinical care and research center staffed by physician and scientists devoted to the study of PH. In addition, the OHF works tirelessly raising dollars to finance research which is significantly advancing the understanding of the disease. Continued advancements are necessary to move research forward to their mission.

These days find the girls at many doctor’s appointments and procedures which require a lot of juggling of time. Their team consists of the experts at Mayo Clinic Hyperoxaluria Center, Rochester, MN, Children’s Hospital of Boston and The Lurie Children’s Hospital in Chicago, IL. They also have tremendous support from friends and family especially their grandparents, Debbie & Al Thibeault (Woonsocket) and Bob & Margaret Halacy (Blackstone).  As parents, they have become great advocates for their daughters and have shed plenty of tears since their journey began in late December 2009.

Catherine said, “One of the hardest things to do is ask for help, as we consider ourselves a pretty resourceful family, but the reality is that time is of the essence for our daughters, and we do need help, so we are doing something about it.

To support their team in their quest to raise vitally needed funding for research for PH, go to www.bostonohf.kintera.org, and click on Catherine Thibeault or Team Strolling Stones.  The Thibeault Family is fundraising on behalf of the Durand Family of Woodstock, CT, who are running for a cure in a collaborative effort, as their twin boys also have Primary Hyperoxaluria.

For more information on this disease, please go to www.ohf.org, or contact Julie Bertarelli at julieb@ohf.org. The Thibeault family thanks you in advance for your support.