Emma’s cystinosis journey begins a bit differently than most, as she was considered “late” diagnosed. We went through 5 years in the unknown with various symptoms, concerns, and a pediatrician telling us “Everything was fine”. At 18 months, Emma developed what we now know as rickets, to which we were told it was only a cosmetic issue. After pushing for more tests, she was misdiagnosed but treated with leg braces she wore for over a year to correct. 

 

At four years old, we once again pushed for additional tests due to her not growing and other symptoms of concern, like severe thirst and vomiting. It was a challenge to push for additional tests and to be told, “Since you’re so worried, we will run some tests.” After a year of testing, visits with specialists, and more questions, we finally had an answer. With relief came heartbreak, turning our world upside down. In August of 2020, aside from the chaos of a COVID-filled world, we were told our daughter had a rare genetic disease.

 

Cystinosis is a genetic condition in which an amino acid called cystine builds up within the cells. Too much cystine damages the cells, causing crystals to form that accumulate and damage the organs and tissues. Cystinosis most often affects the kidneys and eyes. It can also damage other organs like the brain, muscles, liver, thyroid, and pancreas.

 

In the past 5 years, we have learned to navigate medication schedules, illnesses, and many visits to various specialists. As we know, that can all be challenging in any situation, but having to live it daily is a special challenge these amazing individuals take on.  Some days can be harder, whether it’s physically, mentally, or emotionally. At times, Emma will battle low potassium levels, which can leave her tired and weak, she is mentally exhausted with the medications she struggles to take, like her eye drops and growth hormone shots. Some days it’s harder to see her face reflect the emotional challenge of a peer or stranger telling her she smells funny due to the medication she must take to manage this disease. Watching her overcome these obstacles makes us proud every day.

 

Cystinosis is part of our lives, but embracing life with Emma has been easy; watching her conquer the challenges and the bumps in the road thrown her way. We are also thankful for the community we have become part of, which has been a guiding force throughout all the stages of her life.

 

Hopeful, as we decided to put all our efforts and support into fundraising for the Cystinosis Research Foundation. The CRF has done so much in the past 20 years to improve the management of this disease and continues to do research and work to find a cure. We are grateful to God for blessing us with such a kindhearted, resilient, and outgoing daughter who isn’t afraid to face the unknown. We are here to remind her that she never has to face it alone!

Thank you for all your love and support.