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Finding answers through genetic sequencing

Having a sick child is stressful for any parent, but having a child stay ill for years with an unknown diagnosis is not only upsetting but also unendingly frustrating. It is impossible to start fighting a disease that you cannot even put a finger on.

The VanBrocklin's, a family from Wisconsin, were stuck in diagnoses limbo until they received free clinical whole genome sequencing through Rare Genomics as part of its iHope program. The VanBrocklin family overcame many roadblocks in their search for answers for their children, Jasmine and Ronin. It was through this test that both children finally received answers in their diagnostic journey.

Now, six months after receiving the sequencing results, we can see what a difference it has made.

The cost of copays, prescriptions, and therapies for the VanBrocklin’s were well over $5,000 a year; in 2016, they actually hit the threshold ceiling for medical tax deductions. With undiagnosed children, it was difficult for the VanBrocklin’s to find any answers. From a financial point of view, most insurance providers do not cover procedures like Whole Genome Sequencing, making it burdensome to acquire the comprehensive testing that is the key to unlocking these genetic secrets.

Fortunately, both VanBrocklin children were able to take advantage of the iHope program and received results for their diseases. With Jasmine’s confirmed diagnosis for Ichthyosis Vulgaris, she was referred by the Children’s Hospital of Wisconsin to their new pediatric genetic dermatologist. This specialist possesses a much more thorough understanding of her condition.

In Ronin’s case, with confirmed genetic testing findings, he was able to obtain an official diagnosis of Autism. This diagnosis gave the VanBrocklin’s the option of specialized therapy, and also relieved concerns that his symptoms could have been due to a more significant health concern.

A version of this article was originally published on Rare Genomics' blog on August 23, 2017, and has been reproduced with permission by Rare Genomics Institute.

Our mission is to help individuals with rare disease obtain genetic sequencing data to help better understand their disease.

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