The story of Ann
Cholesteryl Ester Storage Disease is an inherited metabolic disorder for which there has been no treatment until 2016. The synthetic enzyme “Kanuma” is now available in only some countries. Our Canadian son was diagnosed in 1975 and is in dire need of the medication. There are no easy routes to accessing new medications outside of Canada. As parents who have attempted to help our son maintain his health and a normal lifestyle, we feel our hands are tied until his medical team acts on his behalf. He has exceeded his life expectancy by 21 years and we believe he is deserving of treatment. Apparently, the med is expensive, however so are many others that save lives. We are hopeful that with strong support and advocacy, the drug will be made available to him at a manageable cost and very soon. He is 41 years old, recently married and the father of a new daughter. He has many reasons to be healthy and live a long life. Kanuma is his only hope.