As we pass the six-month mark as partners in the iHope program, it has already been so rewarding for us at Rare Genomics to see underserved families receive Whole Genome Sequencing in an effort to gain results and treatments for the conditions of their loved ones. We first shared the VanBrocklin story and video when they received their positive Whole Genome Sequencing results early this year.
I had the opportunity to interview the Van Brocklin family for the video at their home in Racine, Wisconsin, and came away very inspired. After visiting with Jami and Jonathan for just an afternoon, I was taken aback by all of the roadblocks that they have had to overcome in their search for answers for their children, Jasmine and Ronin. Now looking back months after receiving the sequencing results, we can see what a difference they have made.
The cost of copays, prescriptions and therapies for the VanBrocklin’s were well over $5,000 a year; in fact in 2016, they actually hit the threshold ceiling for medical tax deductions. With undiagnosed children, it was very difficult for the Van Brocklin’s to find any answers. From a financial point of view, most insurance providers do not cover procedures like Whole Genome Sequencing, making it very difficult to acquire the comprehensive testing that is the key to unlocking these genetic secrets. From a parenting perspective, imagine having children with a disease that is unknown. It is impossible to start fighting a disease that you can’t even put a finger on.
Fortunately, both Van Brocklin 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 has been 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 of 16p11.2 microduplication he was able to obtain an official diagnosis of Autism. This diagnosis gives the Van Brocklin’s the option of specialized therapy, and also relieved concerns that his symptoms may have been due to a more significant health concern.
Our partners at Illumina, through the iHope program, have done a tremendous job working with us to provide underserved families with Whole Genome Sequencing testing and it has been a privilege of mine to be a small part of it. If you are looking to be a part of the program, or if you have a family member that may qualify for the iHope program, please do not hesitate to join us in our search for answers.