Katie and Sean

Family Stories

Katie and Sean

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Katie is a carrier of Alport syndrome, a hereditary disease related to a mutation on the X chromosome. The disease causes hearing loss, cataracts, and kidney failure, and although it is inevitable that the symptoms will develop, it is impossible to know when. This disease has had a major impact on Katie’s life; her father required a kidney transplant in his mid-thirties, and her uncle has had similar health consequences. Although the transplant was a perfect match and her dad’s kidney function continues to be excellent, he still suffers from multiple health conditions, both related to the transplant and his diagnosis of Alport syndrome.

When Katie and Sean began the discussion of starting their family, Katie was tested for the gene and found to be a carrier. At that time, they also learned about how the mutation could affect their future children. Their daughters would have a fifty percent chance of carrying the mutation, and their sons would have a fifty percent chance of having Alport syndrome. While waiting for the results of Katie’s genetic test, they talked at length about how that information might change their plans about starting a family. When it was confirmed that Katie carried the gene, however, the questions immediately faded; they were absolutely determined to make sure they did not pass the mutation on to their children.

Katie and Sean began researching IVF, and quickly learned about preimplantation genetic testing (PGT). Scheduling the appointment to learn more was the easiest decision they have made throughout this process. They were ecstatic to learn that IVF with PGT could prevent the gene from being passed to their children. Pursuing IVF was an unexpected hurdle as they began the process of starting their family. The Chicago Coalition for Family Building has given them the opportunity to have a family and end the cycle of Alport syndrome at the same time. They are endlessly grateful to be grant recipients, and feel excited for the journey ahead.

Katie and Sean are recipients of a donated IVF cycle through Northwestern Medicine and PGT-M through Natera.

When we found out that the next step was IVF, we thought our dreams were shattered

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