Emily Betten

Middletown, NJ

My Story

How old was your child when they were diagnosed with SIOD?

Emily was first officially diagnosed in the Spring of 2017 at 15 years old.  We started with an Endocrinologist who eventually sent us to a Genetic specialist.  It took a while to get appointments with the right doctors since we started this journey trying to figure out why she was not growing.  Initially she was  diagnosed with Spondyloepiphyseal dysplasia.  It was then suggested that we have a genetic panel done which came back with the SIOD diagnosis. Once diagnosed with SIOD the next stop was nephrology where she was diagnosed with FSGS.

What were your thoughts when you FIRST learned that your child was diagnosed with SIOD?

At first we couldn’t even wrap our heads around the term “rare genetic disease”. Once it sunk in for me I felt guilty that this was something we caused and she’d have to live with her whole life! This weighed so heavy on my heart and it always will.

What are some of the medical complications that have occured because of SIOD? 

To date Emily's biggest issue is FSGS. She also suffers from severe eczema but we have no clue if this has anything to do with SIOD. She has also had issues with her hips which has been limited since she stopped doing competitive dance. We are thankful for this although we really do not know what the future holds for her.

What has your child's treatment plan looked like?

 Currently she takes medication to control the FSGS. She has frequent labs done to check her levels. We have an orthopedic for her hip pain as well.  It is challenging to find doctors to fully treat SIOD here in New Jersey.  We do not feel that any one doctor is truly invested.

What challenges does your family face because of SIOD?

Currently we have no severe challenges although we know this could quickly change.

What would a cure mean to you and your child?

A cure would mean not depending on daily medication and relief from the fear of the unknown future of other symptoms and issues which could arise.