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rare genetic disorders

Rare and Complex Conditions
Making Music Instead of Noise: Ephraim’s Journey with Three Genetic Disorders
28
Dec 2018
Making Music Instead of Noise: Ephraim’s Journey with Three Genetic Disorders
With three rare genetic disorders, including a duplication at chromosome 2q13 and mutations in the OCRL1 and CACNA1A genes, there is no manual on how to treat and care for Ephraim. In order for his medical care to be harmonious, it needs to be coordinated across all disciplines, or "make music instead of noise."
By: Mackenzie Lober | 1
Rare and Complex Conditions
5 Things I Want You To Know About My Daughter with Treacher Collins
09
Nov 2017
5 Things I Want You To Know About My Daughter with Treacher Collins
Shana has Treacher Collins, a condition where some of the bones & tissues in the face aren’t fully developed. Read what her dad wants you to know about her:
By: Russ Broomell | 2
Rare and Complex Conditions
From Undiagnosed to Bohring-Opitz Syndrome: Finding Our Crew
06
Apr 2017
From Undiagnosed to Bohring-Opitz Syndrome: Finding Our Crew
It took Michelle 10 years to find a diagnosis for her daughter's ultra-rare condition, Bohring-Opitz Syndrome. Read why she's happy to find their "crew."
By: Michelle Doty | 1
Rare and Complex Conditions
A Mother’s Wish for Kids Who Have Rare Disease
28
Feb 2017
A Mother’s Wish for Kids Who Have Rare Disease
Kids with rare disease deserve respect and a supportive community. Read the wishes one mother has for all kids with a rare disease.
By: Sara Bitter | 0
Rare and Complex Conditions
Running to Raise Awareness for Bartter Syndrome
21
Apr 2016
Running to Raise Awareness for Bartter Syndrome
Ian's support system -- his friends, family and even his doctor -- ran with him in a stroller during a marathon to raise awareness for Bartter syndrome.
By: Amanda Wesolowski | 1

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