Abbi Monaghan is 15 and living the best life she can. Abbi was born healthy, developed normally, and met her milestones as a baby should. She was happy, playful and slept through the night. After her 6-month check up everything started to change. Abbi stopped growing. Her thirst was unquenchable and vomiting frequently followed drinking. It was difficult to keep up with hourly diaper changes. Her parents were more than worried and took her frequently to see the doctor in search of answers. Tests upon tests were completed but regrettably they failed to bring to light the cause. Her parents were told not to be too concerned, Abbi may just be petite and after all, babies do urinate and vomit frequently.
Following Abbi’s 1st birthday, her well being declined seriously. Her weight dropped and she couldn’t seem to keep anything down. Desperate with thirst, she attempted to drink from the bath and the dog’s water bowl. Frantic about it, “water” was one of her first words. At age 18 months, after months of doctor visits and hospital stays, Abbi was finally referred to McMaster’s Children’s Hospital where more extensive testing was completed. Diabetes was ruled out, as was Cystic Fibrosis and a brain tumour. Eventually a test came back showing some kidney abnormalities, followed by a diagnosis of Fanconi Syndrome. Next came the unbelievable, frightening diagnosis of Cystinosis.
Cystinosis is a rare, incurable 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. Quality of day-to-day life varies. Cystinosis affects Abbi’s growth. (She is usually one of the smallest in her grade, but makes up for it with her big personality.) She also has ongoing issues with photosensitivity and wears sunglasses at all times when outside and inside if under florescent lights. (Crystals build up in her eyes making it feel like sand and further aggravated by light.) Abbi is on a strict medication routine, every 6 hours around the clock. (35 doses of medications per day via pills, capsules and liquids, and hourly eye drops.) Side effects of these life saving medications include diarrhea, drowsiness, fever, loss of appetite, nausea, vomiting, skin rash, and various body aches.
Abigail Mary Monaghan reminds us in many ways, every day, to be more aware, and to live in the moment. She lives a “normal” life. She loves, art, biking, cooking, crafts, dance, decorating, fashion, friends, games, and gymnastics, pets, school, swimming and family life.
A rare disease affecting a small population equals scarce research money. Dollars come directly from close family and friends. However, researching complicated diseases like Cystinosis often leads to advancements in other more common diseases. 100% of your donation goes directly to the Cystinosis Research Foundation who are committed to finding a cure.
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