My daughter was diagnosed through Whole Exome Sequencing with a Variant of Unknown Significance on the gene SMOC1. This change on SMOC1 along with her clinical symptoms led doctors to diagnose Hope with Ophthalmo Acromelic Syndrome (OAS). This syndrome is also called Waardenburg’s Anophthalmia and Anophthalmia with Limb Anomalies. ​​

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There are very few reported cases of OAS. According to the literature we have been able to find there have been less than 40 cases since 1935. As far as we know Hope is the only reported case of her variant to survive birth. The other two cases in the literature are from fetal autopsy.

There are some research articles available on SMOC1. However, there are significant barriers to access and understanding them for a parent who is not a professional scientist or researcher. The articles are written for other researchers and as such don’t make clear the information that families are looking for like prognosis and outlook. 

 

I’m so thankful for this working relationship with Helen. At the beginning of this journey I was overwhelmed and lost. I didn’t know how to start, but I knew that learning more about SMOC1 and what my daughter’s future looked like was up to me. Every doctor I talked to had never heard of her condition and didn’t see the benefit in learning more about a condition so rare. Through meeting with Helen I have begun to gain a deeper understanding of how this gene works and what happens when it doesn’t. She has walked with me and helped to guide my research to where I am becoming the expert on OAS for my daughter. She has also helped me to forge connections with the researchers who are studying SMOC1 on a global scale. 

 

In the future, I hope to build a foundation that will help in pushing research into SMOC1 forward. I would love to build a community of families and be able to provide support and answers to other families. The first steps of this have been in learning as much as I can about SMOC1 and the next steps will be in locating more families. ​

This project represents the epitome of what we want to do for individuals in the rare disease space at this moment in their journey. Dani would like to launch an organization for the OAS community to orchestrate the whole research space. To do this she knew she needed to immerse herself in the SMOC1 science.

 

Dani has served in the area of blindness and deaf blindness for over 15 years and has a tremendous foundation of knowledge. She brought to this project an understanding of the physical mechanism of the eye, how the eye is supposed to function, and what happens if part of the vision system does not work. She shows up with papers highlighted top to bottom and knows exactly where in her readings she has questions.

 

Leveraging my years of experience as a researcher, I meet with Dani and coach her how best to navigate the science at multiple levels. As Dani teaches me brand new jargon related to the eye and blindness, I help her build her confidence in how to approach reading the scientific literature and save her time by pointing to the most relevant pieces of an article, knowing we can always broaden horizons once the core concepts are understood. Whether those concepts are in Youtube clips, buried in supplemental sections, or in another reference, I guide her toward what I believe will best-position her to lead this field.

 

I am so excited and honored to join Dani in her efforts, help where I can, and direct to resources I know of where I cannot. I hope this time makes a true difference for her daughter Hope and possibly an entire community of people affected by this disease.