Marley, 6, was the only person with this rare genetic condition – and now her family has hope msn.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from msn.com Daily Mail and Mail on Sunday newspapers.
Mattawan girl leading way with treatment after being first diagnosis for rare genetic disorder
A West Michigan girl is the first to ever be diagnosed with Bachmann-Bupp syndrome, a rare genetic mutation.
and last updated 2021-07-16 22:43:45-04
MATTAWAN, Mich. â Six-year-old Marley Berthoud is on the move.
âItâs just been this continuum of advancements,â said Kelly Berthoud, Marleyâs mom. âWeâre seeing a lot of progression with her movements.â
Marleyâs ability to scoot through her Mattawan home and her head full of hair are just some of the changes sheâs recently experienced.
âItâs awesome to watch that sheâs progressing so rapidly,â said Kelly. âFor so long, the first four years of her life, she was very basic function.â
Local organizations launch needed resource for people impacted by rare diseases
The partnership includes Spectrum, MSU and Calvin University.
and last updated 2021-02-20 10:24:57-05
GRAND RAPIDS, Mich. â Spectrum Health, Michigan State University College of Human Medicine, and Calvin University are launching a new resource for people impacted by rare diseases.
âThere are some common things that we know families deal with that we try to target our work towards,â said Dr. Caleb Bupp, Division Chief of Medical Genetics and Genomics for Spectrum Health.
The website includes stories, resources, and research for people impacted by one.
âSocial media and things have made connecting easier than ever before, but a lot of rare disorders donât have something [ i.e. resource groups ] and thatâs why weâve tried to make this as big of a tent as possible,â said Bupp. âGo after the more common things, what things are hard with rare disease; Itâ�