0% found this document useful (0 votes)
19 views

Genetic Mutation

The documentary focuses on Magnolia, a girl affected by Rett syndrome, highlighting her family's journey as they cope with her regression in developmental milestones. It showcases the medical and therapeutic challenges they face, along with insights from an interviewer whose son also has the condition. The film emphasizes the importance of awareness and ongoing treatment for Rett syndrome, which is caused by a mutation in the MECP2 gene.

Uploaded by

rashedmara
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
0% found this document useful (0 votes)
19 views

Genetic Mutation

The documentary focuses on Magnolia, a girl affected by Rett syndrome, highlighting her family's journey as they cope with her regression in developmental milestones. It showcases the medical and therapeutic challenges they face, along with insights from an interviewer whose son also has the condition. The film emphasizes the importance of awareness and ongoing treatment for Rett syndrome, which is caused by a mutation in the MECP2 gene.

Uploaded by

rashedmara
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 2

A ra b & Ra sh ed

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

To learn more about Rett Syndrome: https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/


MAGNOLIA’S
Arab & Rashed

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.

Medical and physical therapy to help Magnolia were displayed,


including the challenges that Magnolia's parents and she herself
endured as a result of her pain and developmental setbacks.
Because his son also has Rett syndrome, the interviewer also
discussed his own experiences with it. The clinical research they
are participating in to treat Rett syndrome was explained as the
video came to a conclusion.
To learn more about Magnolia: https://magnoliashope.com/

WHAT IS RETT SYNDROME?


A mutation in the MECP2 gene, which
codes for the methyl CpG binding protein 2,
accounts for the majority of instances of Rett
syndrome. The mutation is devestating
because the MECP2 gene contains a specific
set of instructions to create a unique protein
needed for successful brain development.

SYMPTOMS MAY INCLUDE:


Loss of speech
Loss of purposeful use of hands
Involuntary hand movements such as handwashing
Loss of mobility or gait disturbances
Loss of muscle tone
Seizures or Rett “episodes”
Scoliosis
Breathing issues
Sleep disturbances
Slowed rate of growth for head, feet and hands

RETTS SYNDROME STATISTICS

Commonly affects females and


seldom males. Sadly, when a male is
affected, it is considered as a severe
case

HOW IS MAGNOLIA NOW?


Magnolia and her family are
happily enjoying life despite the
challenges they face. Magnolia
is still getting treatments that
can help her fight Rett
Syndrome. And they all
advocate and help spread
awareness of the genetic
mutation for everyone to know.
To learn more about Rett Syndrome: https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/

You might also like