The daily routines of those who care for children with rare genetic diseases are challenging.  In his new book, “The Boy in the Moon,” Ian Brown describes his personal struggle to cope with his son’s diagnosis of cardiofaciocutaneous syndrome. Brown details how he learned to communicate with his son, who is unable to speak, and how his son taught him to live and love without judging.  Along the way, there are moments of darkness, including the anxieties associated with providing for a child who will forever remain dependent. Philosophical questions about the meaning of life are juxtaposed against practical concerns about how to make it through each day.

As a genetic counselor, I have met families whose day-to-day lives include specialized medical equipment, feeding tubes, multiple visits with physicians, overnight hospitalizations, routine therapies, and other challenges.  While many of these parents express periodic bouts of sorrow, guilt, anger, and helplessness, their everyday focus is not on these emotions. Rather, each day is filled with a deliberate intent to normalize family life as much as possible, and to appreciate the moments of joy that filter their way through times of stress.

A common theme that many of these families share is that of “not knowing.” It begins with notknowing that such a condition could even occur in the family, or not knowing that genetic testing was an option before pregnancy. It persists with not knowing whether a diagnosis will be made, and how much can be done if the symptoms are given a name. Parents often do not know much suffering their child might endure and how they can be prepared to handle what lies ahead. And, amidst all of this uncertainty, there is the unspoken but significant burden of figuring out howtoshoulderthefinancialresponsibility associated with diagnosis and care.

Parents of a child with a genetic disorder often do not know about its presence until after the child is born. At that point, most parents want to learn as much as possible about what they might expect for the future. Any new parent may express their love in part through preparation for the future. In cases of genetic disorder, the desire to know and be prepared for how a disease will impactthechildandfamily, from personal, societal, and financial perspectives, while seemingly a very practical concern, is arguably an intense extension of that same love.

Data about the costofcaringforchildrenwithdisabilities is limited.  While some studies have been conducted in this area, few have specifically focused on rare genetic diseases. This is naturally a sensitive topic; parents don’t want to quantify the cost of caring for children, period.  Having children is so much more than taking care of their immediate needs, and the rewards that come with parenting are immeasurable.  It is a huge undertaking to quantify the financial costs of caring for individuals with rare diseases, but for the benefit of these children, their families, and society as a whole, there is a moral imperative to at least try.

As parents of children with rare genetic disease, you are in the best position to raise awareness of the costs incurred through caring for these individuals.  Widespread knowledge of these numbers will help to achieve sufficient insurance coverage for children and their families, and will motivate social entrepreneurs to develop cost-effective diagnostics and therapeutics for these conditions.  Please take the time to complete this survey and share it with anyone who you know can contribute valuable information.  To participate, click here:Raise Awareness of the Financial Costs Associated with Caring for Children with Rare Genetic Diseases

Shivani B. Nazareth is RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc. For more information about carrier screening for rare disorders, visit www.counsyl.com.

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