This Amazing Company Puts Gene Testing in the Spotlight

It takes an average of seven years for a patient with a rare disease like severe combined immunodeficiency (SCID) to receive a correct diagnosis; and that comes after the patient has seen multiple doctors, had multiple tests, and has spent tons of money. That waiting time may have just gotten a little shorter.

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Time is not on your side when it comes to finding answers for babies.
Invitae Corporation, a company that specializes in the dissemination of genetic information has exciting news. They have recently expanded their menu of available genetic tests to include hundreds of new genes, with the goal of surpassing 1,000 genes by the end of 2016; and, they’re making it affordable. Plus, their turn-around time is only three weeks, so if you are a patient waiting for results, you won’t have to wait forever.

Screening newborn babies for genetic diseases can cut the diagnosis time significantly–which is so important. The sooner a problem is discovered, the faster proper treatment can begin. For babies with rare diseases like SCID, treatment can be lifesaving. In fact, untreated, children with SCID very rarely make it past their second birthday. You may remember the famous case of David, the “Boy in the Bubble” who was born without an immune system, and survived for 12 years in a completely sterile environment. After undergoing a bone marrow transplant, using his sister as a donor, he developed an infection that cut his life short. Today, we know that David had SCID, and babies born with the disorder can now be treated and have a better quality of life than David did. In fact, SCID was the first disorder to be treated with gene therapy.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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