Genetic Mutation
Genetic Mutation
Documentary Summary
Magnolia is a girl who is brimming with
affection, joy, and curiosity. Due to an
awful genetic mutation that occurred
inside of her, her life soon changed. The
Rett syndrome-afflicted family is the
subject of the documentary. Similar to
other families, they watched their baby girl
reach developmental milestones including
crawling, walking, and speaking until all of
a sudden she went back to before she had
even learned to crawl.
Me di ca l an d ph ys ic al th er ap y to
he lp Ma gn oli a
we re di sp lay ed , in clu di ng th e ch
all en ge s th at
Ma gn oli a's pa re nt s an d sh e he rs
elf en du re d as a
re su lt of he r pa in an d de ve lop m en
ta l se tb ac ks .
Be ca us e hi s so n als o ha s Re tt sy
nd ro m e, th e
in te rv ie we r als o di sc us se d hi s ow
n ex pe rie nc es
wi th it. Th e cli ni ca l re se ar ch th ey
ar e
pa rti ci pa tin g in to tre at Re tt sy nd
ro m e wa s
ex pl ai ne d as th e vid eo ca m e to a
co nc lus io n.
To learn more about Magnolia: http
s://magnoliashope.com/
T S YNDRO ME?
HAT I S R E T
W E C P 2 g e n e , w h ic h c o d e
s
the M 2,
A m u t a t io n in l C p G b in d in g p r o t e in
t h y tt
for the me r it y o f in s t ances of Re
r t h e m a jo
accounts fo syndrome.
e v e s t a t in g because the
n is d if ic s e t o f
T h e m u t a t io a in s a s p e c
cont
MECP2 gene e a t e a u n iq u e p r o t e
in
t o c r
in s t r u c t io n s l b r a in d e v e lo p m e n t .
uccessfu
needed for s
Sy m pt om s m ay in cl ud e:
Loss of spee ch
Loss of purp osef ul use of hand s
Invo lunta ry hand move men ts such as
hand wash ing
Loss of mob ility or gait distu rban ces
Loss of musc le tone
Seiz ures or Rett “epis odes ”
Scol iosis
Brea thing issue s
Slee p distu rban ces
Slow ed rate of grow th for head , feet and hand s
HOPE
DOCUMENTARY SUMMARY
Magnolia is a girl who is brimming with affection, joy, and
curiosity. Due to an awful genetic mutation that occurred, her life
soon changed. The Rett syndrome-afflicted family is the subject
of the documentary. Similar to other families, they watched their
baby girl reach developmental milestones including crawling,
walking, and speaking until all of a sudden she went back to
before she had even learned to crawl.