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Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to better understand the financial cost of caring for a child with a rare genetic disease.

By participating in this survey, you will contribute to a research paper that will quantify the financial burdens endured by parents of children affected by genetic disease. The aggregate, anonymized opinion of the community will be shared with everyone from politicians to health insurance companies and will assist in bringing about change and reforms.

Click here to participate. Please allow about 30 minutes to complete.

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 not knowing 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 how to shoulder the financial responsibility 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 impact the child and family, from personal, societal, and financial perspectives, while seemingly a very practical concern, is arguably an intense extension of that same love.

Data about the cost of caring for children with disabilities 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.

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 not knowing 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 how to shoulder the financial responsibility 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 impact the child and family, from personal, societal, and financial perspectives, while seemingly a very practical concern, is arguably an intense extension of that same love.

Data about the cost of caring for children with disabilities 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.

Like many parents of children with rare genetic diseases, Deborah and her husband learned of their positive carrier status only after their daughter Claire was diagnosed with SMA. The couple had already given birth to one healthy child. In planning their second pregnancy, they underwent genetic screening for conditions like cystic fibrosis and Tay-Sachs. Carrier screening for additional disorders was available but not offered because there was no suspicious family history. A few months into life, Claire was diagnosed with a fatal condition.

The fact is most children with rare genetic diseases are born to families with absolutely no history of the condition. As many as one out of five individuals is thought to be a “carrier” of a rare recessive genetic condition. A carrier does not typically manifest symptoms or have a family history of the disease. When two carriers of the same recessive gene begin a family together, they can give birth to an affected child. Prospective parents are mostly unaware of their carrier status prior to planning a family.

In the United States, screening for a small list of diseases is typically initiated at the first prenatal visit, after a pregnancy is confirmed. At this stage, if there is no notable family history, screening recommendations are guided by ethnic prevalence: Caucasians and Hispanics are offered cystic fibrosis; African Americans are offered sickle cell; Ashkenazi Jews are offered Tay-Sachs at a minimum. All pregnant women are offered screening for Down syndrome; yet, rare recessive diseases are collectively present in 1/280 births, which is more common than Down syndrome.

Comparatively, several countries around the world practice preconception screening, including Israel, Cyprus and Taiwan. The UK has recently taken steps towards introducing carrier screening at the high school level. The idea is that knowledge of reproductive risks prior to family planning allows couples to take advantage of all of their options. At-risk couples may choose in-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Others consider prenatal diagnosis in the early stages of their pregnancy. Still, some use the information to prepare for the birth of a child with special needs or consider adoption. The way in which the information is digested is very personal. Limiting access to this information, however, deprives families of the right to make informed decisions.

Cost has been cited as the main barrier to routinely offering screening for rare diseases. At several hundred dollars per disease, the expense of testing everyone for multiple conditions adds up quickly. This was true until recently. Using advances in genomic technology, scientists have made possible an affordable pan-ethnic genetic screen for over 100 recessive genetic diseases. The price — just under $400— compares to the current cost of screening for only one rare disease. With vast amounts of information available at an affordable cost, justifying the omission of diseases from routine screening proves difficult.

The field of genetics is moving at an extremely rapid pace, and carrier screening is just the beginning. As the cost of genomic technology continues to decline, access to information about all of our genes will increase. In the era of modern medicine, waiting until a child is born with a rare inherited disease to offer carrier screening is simply unacceptable. In his recent book, Dr. Francis Collins, Director of the NIH, notes, “…within a few decades people will look back on our current circumstance with a sense of disbelief that we screened for so few conditions…they will also be puzzled and dismayed, as I am now, that our health care system put so many couples in an unnecessarily difficult position, by not identifying their carrier status until a pregnancy was already underway.”
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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.

DANA POINT, CA – February 1, 2010 – Hope – It’s In Our Genes.™ The Children’s Rare Disease Network today announced the Global Genes Project, an initiative designed to raise awareness about the prevalence of rare diseases that afflict millions of children worldwide. Rare disease advocates organizing the campaign selected a blue jeans denim ribbon as the international symbol of hope for children suffering from life threatening and chronically debilitating rare diseases.

More than 90 corporations, non-profit foundations, research institutions and children’s hospitals have signed on to support the Global Genes Project including: 23andme, Amicus Therapeutics, Better Health, BioMarin, CheckOrphan, CollabRx, Counsyl, Coriell Institute, DonateGames.org, FasterCures, FreeForm, Genetic Alliance, Geni.com, Genzyme, Hide and Seek Foundation, Jackson Laboratory, Kakkis EveryLife Foundation, Knome, Lili Claire Foundation, Life Technologies, Mayo Clinic and Shire.

Numerous rare disease foundations from countries including Australia, Argentina, Belgium, Canada, China, New Zealand, Philippines, the United Kingdom and United States are helping support the global movement by organizing activities throughout February and leading up to World Rare Disease Day 2010.

“The Global Genes Project is providing a new platform to help unite people under a common goal and to make a difference for all children suffering from rare disease,” said Nicole Boice, Founder, Global Genes Project. “We want to create a world where children suffering from chronic disease have equal access to life saving drug treatments.”

Growing Public Health Concern; Inequity Exists

Rare disease is an important and growing global public health concern that can no longer be ignored. While each disease may be rare when considered by itself, rare disease collectively impacts the lives of millions. According to estimates from the National Institutes of Health (NIH), approximately 6,800 rare diseases exist, many of which are genetic in origin, translating to an affected population of 25-30 million Americans or approximately 1 in 10 people. In Europe, the number affected is almost identical. Approximately 75% of those affected by rare diseases are children, making the rare disease category one of the most deadly and debilitating for children worldwide.

Despite the success of the Orphan Drug Act of 1983, pharmacologic treatments exist for only a small fraction of rare diseases, or approximately 200 of the 6,800 rare diseases. After 25 years of orphan drug regulations and legislation, the development path to approve new drugs has not stimulated orphan drug development for small populations of patients facing rare disease.
Current studies also suggest that it takes more than a dozen years and hundreds of millions of dollars to take a potential drug from discovery to the marketplace. As a result, severe inequity exists in access to care and treatment for millions of rare disease patients.

Denim Blue Jeans Ribbon Campaign

Leading up to the annual World Rare Disease Day on February 28, 2010, the Global Genes Project will help facilitate a series of denim focused awareness events, charitable activities and engage corporate sponsors, government officials, celebrities and the media to help spread its lifesaving message of hope.

“Blue is the color of strength and our blue jeans denim ribbon is an ideal symbol that expresses solidarity,” added Boice. “Genes and jeans are a natural fit – both are universal, come in pairs and are unique to the individual. It’s a simple concept that anyone can embrace and a powerful way to raise awareness for rare disease.”

The Global Genes Project is asking rare disease advocates and supporters across the world to wear denim jeans and blue jeans denim ribbons the week of February 22 and leading up to World Rare Disease Day 2010. The organization is also asking supporters to display the blue jeans denim ribbon symbol on their websites and to actively invite co-workers, friends and family and their community to join in spreading this global message.

Blue jeans denim ribbons can be obtained by visiting www.globalgenesproject.org. Denim jeans and ribbon wearing supporters can submit digital photos on Facebook. To join the growing list of supporters, visit http://www.globalgenesproject.org/sponsors.php.

About The Global Genes Project

The Global Genes Project is a campaign of the Children’s Rare Disease Network and a grassroots effort with the goal to increase awareness about the prevalence of rare diseases worldwide. The Children’s Rare Disease Network is a registered 501c3 non profit organization. For more information, visit www.crdnetwork.org or www.globalgenesproject.org.