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 · By Lindsey Schedler

Parenting a Child Living With a Rare Disease – One Mother’s Perspective

RDD2015-Badge-FINALFebruary 28, 2015 marks the eighth international Rare Disease Day, coordinated by the National Organization for Rare Disorders (NORD), The European Organisation for Rare Diseases (EURORDIS), and other patient organizations. As a pioneer in the field of rare genetic diseases, Genzyme has supported this initiative since its inception. Both Genzyme and Sanofi employees around the world are participating in various events and activities, all of which are designed to raise awareness of rare diseases. The theme for this year’s Rare Disease Day is “Living with a Rare Disease: Day-by-day, hand-in-hand.” In keeping with this theme and in an effort to deepen our understanding of their journey, a mother of a young son living with a rare disease called Niemann-Pick Type B shares her and her son’s story. Please read below to learn more about them.

Richard Peters, Acting Head Global Rare Diseases, Genzyme

Being a parent is a very challenging job. We worry about everything with regard to our children such as coughs, colds, flu, ear infections, bumps and bruises. We seek out treatment and first aid when these problems occur. When you are a parent of a child with a RARE Disease, especially one which can be life-threatening and there is no existing treatment or cure, it becomes a whole new challenge. The life you once had becomes completely turned around. The only thing you think of is finding a cure or treatment so that your child will never have to suffer and will be able to live a happy and long life. As a parent of a child growing up with a rare disease, you must also deal with the daily reality of your child being different and suffering from something RARE, something that others do not understand.  It can be isolating at times.

My son suffers from Niemann-Pick Disease, Type B (NPB). He is an incredible, handsome, and sweet child. Despite suffering from this disease, my son lives out his life as a normal kid, spending time with his close family unit, playing with his friends and cousins, playing with his iPad and video games, drawing, and engaging in limited sports; such as tennis, swimming, some calisthenics; shooting hoops and throwing a football. He is very confident and outgoing despite his difficulties and limitations. He has lots of friends and uses humor to cope with his disease. 

Unfortunately, my son has to contend with the consequences of NPB. He cannot play any contact sports because of his enlarged spleen and liver. He would very much like to play basketball or soccer like his younger brother can. My son also cannot engage in the activities the other children do in gym class or in summer camp due to his limitations and the other children are always asking him “why can’t you play sports?” This becomes frustrating and annoying to him when he hears this repeatedly. Additionally, my son bruises very easily, so after riding a bike or playing outside, the bruising on his shins is quite significant and looks like he has been in a bad accident. My son is now starting to notice that he has a growth restriction. He is smaller and thinner than most of the other children in his class and is now concerned what it will be like as he approaches Middle School. He jokes, “the school is going to be so big, what if I am too small to see where I am going?” Although my son has only mild distention of his belly, he often complains that he feels full quickly, and it is a constant daily battle to get him to consume the calories he needs to have in order to grow properly (2000 calories a day). Due to his large spleen, he becomes satiated easily and his calories are consumed more quickly because of his large organs. Eating becomes a source of conflict in our home as a result. Finally, my son often has lingering respiratory infections which may cause him to feel lousy in school for a period of time after even a mild cold.

We see how the enzyme replacement therapy clinical trials have been moving forward and truly see how dedicated you have been to the NPB community in seeking a treatment for this rare disease. It is our hope that your efforts will lead to a treatment that will one day make a difference for children like my son. Thank you! 

Learn more about Rare Disease Day by visiting this site

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