Finding Answers through Sharing
We are always looking for new participants that can help us better understand the medical mysteries plaguing us today. Here, you can learn more about some of our past participants and help us find and connect with others with the same or similar conditions.
If you or someone you know has any of the symptoms or genetic changes listed in these profiles, please
contact us.
Each of these pages includes details about our participants. We respect the privacy of all our participants, and sharing information on our site is not a requirement to participate in the study. Only participants who have given us their consent will have information posted to our site. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.
Participant 231
Female, age 3, with liver failure, recurrent respiratory infections, and ketotic hypoglycemia
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Participant 230
Male, age 17, with progressive vision loss, eye abnormalities, elevated eye pressure, and delayed speech and language development
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Participant 229
Female, age 4, with low muscle tone, motor delays, speech and language delays, and autism caused by a change in the RNU4-2 gene, diagnosed with ReNU syndrome
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Participant 228
Female, passed away at 12 weeks old, with thickening of the heart muscle (hypertrophic cardiomyopathy), abnormal brain activity on EEG, breathing difficulties, and metabolic abnormalities.
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Participant 227
Male, age 8, with feeding difficulties, failure to thrive, developmental delays, and speech apraxia
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Participant 226
Female, age 37, with nervous system dysfunction (dysautonomia), muscle weakness and fatigue, muscle cramping, and painful “pins-and-needles” feeling in extremities (small fiber neuropathy)
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Participant 225
Female, age 5, with developmental delay, immunodeficiency, and skin changes
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Participant 224
Male, age 5 with heart defect, brain abnormalities, and global developmental delay, partially caused by changes in the RBM28 gene
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Participant 223
Male, age 14 with autism, absent speech, developmental delay, and recurrent episodes of severe abdominal pain
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Participant 222
Male, age 11, with gross motor delay, language impairment (aphasia), and autism
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