Lily Beauregard's Story

“Lily continues to impress us and inspires us on a daily basis.”

April 6, 2015 was the best day of our lives, it was the day we welcomed our beautiful baby girl, Lily Constance Beauregard, into this world. However it didn’t take long before we felt something was wrong. Like many parents before the diagnosis, we bounced from doctor to doctor trying to get answers. Lily vomited constantly, had excessive thirst and urination. As she continued to fall on the growth charts, eventually being classified as “Failure to thrive,” we as parents fought even harder for answers. It wasn’t until Lily was 13 months old that we finally got answers after being admitted to Boston’s Children Hospital.

In a three-day span, we were told our daughter had Rickets, Fanconi syndrome and ultimately told she had cystinosis. Cystinosis is a terminal metabolic disease in which the amino acid cystine gets into the cells, but has no transporter out. Because of the defect in transportation, the cell crystallizes causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain.

Lily continues to impress us and inspires us on a daily basis. Lily is a strong, sassy little girl who is now thriving with the right care and treatment. Even on days we know she doesn’t feel 100%, she doesn’t let it slow her down from playing, laughing and being a busy young girl. Her outgoing personality and big brown eyes steal the hearts of everyone around her as she holds court everywhere, from restaurants to shopping malls to school. Her nonstop chatter and ability to recall the details of people she meets surprises us on a regular basis. There is no doubt in our minds that she will achieve every dream we have for her and every dream she dreams for herself.

Current treatments to slow the progression of cystinosis require a tough regimen of medicines every hour of every day. The treatments must also be adjusted often based on the results of kidney function, frequent blood work to monitor nutrient levels, eye exams, and much more. With research, possibilities are endless. Research gives us hope, the hope that our daughter will have the opportunity to dictate how she wants to live her life. Not allowing cystinosis to dictate it for her. Knowing that she can achieve anything she desires. We hope she grows with confidence to pursue life with strength, grit and perseverance and with the belief that no matter what life throws at her, she can rise above and keep moving forward.

We dream for a better tomorrow, and with ever evolving treatments, our tomorrow grows brighter. With recent advancements in treatment and research, we believe Lily can achieve all this. But so much more can, needs, and will be done. We have joined the fight to spread awareness and raise money for research. “Help Lily Blossom” will officially be standing strong with so many of you who dream courageously every second of every day.

Please join us in finding improved treatments and a cure by donating in honor of Lily.

Thanks for Helping Lily Blossom,
-The Beauregard Family

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