UDN

Solving Medical Mysteries
Through Team Science

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 206

 

Male, age 17, with prune belly syndrome and strokes due to disease of the arteries in the brain (arteriopathy) caused by a change in the MIR145 gene

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Participant 205

 

Male, age 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections

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Participant 204

 

Male, age 71, with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia)

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Participant 203

 

Female, age 5, with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone

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Participant 202

 

Male, age 4, with a history of neonatal abstinence syndrome, global developmental delay, brain malformation (Chiari I malformation), and uncoordinated gait (gait ataxia)

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Participant 201

 

Male, age 5, with global developmental delay, coordination and movement problems (ataxia), and speech delays

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Participant 200

 

Female, age 38, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder).

 

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Participant 199

 

Male, age 14, with a weakened immune system (common variable immune deficiency), mitochondrial deficiency (complex I), delayed stomach emptying (gastroparesis), and multiple congenital anomalies.

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Participant 198

 

Female, age 20, with dopamine deficiency and damaged nerves in her hands and feet (peripheral neuropathy) caused by a change in the DNM1L gene.

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Participant 197

 

Female, age 7, with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay.

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