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Leap Day comes every 4 years. But did you know? Most kids living with a rare disease must wait even longer before getting a correct diagnosis, specialized care, and support.1
Honor this rarest Rare Disease Day by learning about the Foresight® Carrier Screen. Used before or during pregnancy, Foresight lets parents know their risk of passing down a rare genetic disease so they can prepare, explore options, and help reduce the time to diagnosis.
RARE DISEASE DAY, FEBRUARY 29, 2024 IS IN:
is the typical waiting time for a rare disease diagnosis1
are often consulted to get a correct diagnosis1
1 in 13
live with a rare disease in the U.S.—likely including people you know2
of rare disease is genetic.1 The risk can be detected before or during pregnancy with carrier screening.
“When the screening came back, we were able to start treatment a lot faster”
— Ashley Pantier, mother of two children living with rare disease
Talk to your healthcare provider about getting a Foresight Carrier Screen as part of your family planning or prenatal care. With a simple blood or saliva test, you can gain valuable peace of mind by learning if you, like most expectant parents, are at low risk of passing inherited conditions down to your child.
In the rare event that a pregnancy is higher risk, your test results will help you learn more and plan. In some cases, there may be steps you could take to get ahead of a rare disease diagnosis for your baby.
Only Foresight is proven to be >99% reliable for patients of all ancestries, across the vast majority of screened conditions.3 And our board-certified genetic counselors are here to answer your questions, at no cost. So you can receive reliable results the first time, with guidance you can trust.
Whether you use the Foresight Carrier Screen when planning your pregnancy, or during prenatal care, together with a noninvasive prenatal screening like Prequel® with AMPLIFY™ Technology—screening is reassuring for most parents-to-be.
More specialized pre-and post-conception options are becoming available, and taking steps early, or even in advance, can potentially improve health outcomes. In the rare case a concerning condition is detected, you may have valuable time to learn more about all your options.
In vitro fertilization: embryo genetic testing can be done before implantation
Family-building options: from adoption to sperm or egg donation, and beyond
Plan for diagnostic testing
Choose a specialized delivery facility
Find support groups
Explore treatment options
When Ashley first got pregnant, she didn’t realize how much carrier screening could help her baby, Christopher. Only after his symptoms began did she realize the Foresight Carrier Screen could help them get a diagnosis and treatment faster.
The outcomes were totally different for her second child, Emily. “We had the carrier screening done, and so we could make a plan. Because of that, she’s living a typical life.”
Ashley is 26, pregnant, and experiencing a complication-free pregnancy.
Ashley delivers Christopher.
At around 18 months, Christopher has not yet started walking.
Ashley and her husband learn about Foresight, get tested, and find they are both carriers of spinal muscular atrophy (SMA).
Christopher gets medical interventions and extensive physical therapy, and eventually learns to walk with braces.
Ashley is pregnant again with Emily. Because they know they are SMA carriers and there is a 25 percent chance Emily could be affected, they have an early intervention plan.
Emily is delivered and is positive for SMA. The early therapeutic interventions mean that Emily hits her milestones and shows no symptoms of SMA.
Chances are, each of us will know someone living with a Rare Disease, now or in the future.
Join us in honoring Rare Disease Day by helping spread awareness that if everyone received carrier screening before or during pregnancy, fewer families would wait 4+ years to receive potentially life-changing rare disease treatment and support.
Waiting so long can be difficult and isolating. Only once a correct diagnosis is found can families get specialized guidance, support groups, and treatment options for their child’s specific condition.
Download our social media posts and tag your friends and family, especially anyone who might grow their family in the next four years. Together, we can help more families impacted by rare disease find a correct diagnosis long before the next #RarestDay.