Face 22 Families Advocating for Chromosome Education - PowerPoint PPT Presentation

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Face 22 Families Advocating for Chromosome Education

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Deletion 22q syndrome is caused by a missing segment of the 22 chromosome. ... include Down's Syndrome (extra chromosome 21); Prader-Willi Syndrome, Tay-Sachs ... – PowerPoint PPT presentation

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Title: Face 22 Families Advocating for Chromosome Education


1
Face 22Families Advocating for Chromosome
Education
  • Deletion 22q11.2

2
What is Deletion 22q11.2?
  • The technical name for a genetic condition caused
    by a specific segment of missing genetic material
    on chromosome 22. Before 1994 it was called
    Velocardiofacial Syndrome but also had related
    Sequences including DiGeorge, Robin or Potter

3
The Science of Genectics
  • Deletion 22q syndrome is caused by a missing
    segment of the 22 chromosome. Chromosomes are the
    packages of our genetic material that tell our
    bodies how to grow and develop. In all of our
    cells we have 46 chromosomes which come in 23
    pairs one from the mother and the other half
    from the father.
  • Genes contain the instructions which tell our
    body how to perform specific functions. If genes
    are deleted or missing on a particular
    chromosome, it can have effects on growth and
    development.

4
How does someone get a 22q11.2 deletion?
The deletion happened for the first time in the
family.
Less than 1 risk for future pregnancies
Neither parent has the deletion (93 of cases)
The parent may not have any signs or symptoms.
50 risk for future pregnancies
One parent has the deletion (7 of cases)
5
How is Deletion 22q inherited?
  • Deletion 22q11.2 is autosomal, meaning that it
    effects both males and females and it is
    dominant, meaning that a deletion on only one
    copy of a chromosome will cause the deletion.
  • Once a person has this deletion they have a 50
    chance of passing it on to their children. But
    this only accounts for 7 of the cases today.
    Each child can fall anywhere on the spectrum from
    mild to severe. Some parents can be so mildly
    affected, they are not even aware they have the
    deletion until they have a child with more
    serious health issues.
  • The other 93 percent of cases are due to a new
    (de novo) deletion that is not present in either
    parent.
  • A very common genetic condition 1 in 2,000
    births.
  • More commonly known genetic conditions include
    Downs Syndrome (extra chromosome 21)
    Prader-Willi Syndrome, Tay-Sachs disease, Cystic
    Fibrosis, Spina Bifida there hundreds which
    makes it impossible for medical personnel to know
    about each possibility

6
How is Deletion 22q diagnosed?
  • A specific blood test, typically performed by a
    geneticist, is available which looks at a
    persons chromosomes FISH (fluorescent in situ
    hybridization) uses florescent lighting in the
    lab to light up chromosomes. If a particular
    segment does not light up, it is missing. The
    q11.2 part refers to the exact position and arm
    of the chromosome that is affected.

7
The FISH Test
8
Blank arm Deletion 22
9
What types of health problems can be seen in
children with Deletion 22q?
  • There are 187 possible medical anomalies but not
    all children will
  • be affected by all of these and conditions range
    from mild to
  • severe. Here are the more common concerns
  • Heart defects
  • Cleft palates not typically the lip
  • Weakened immune systems
  • Feeding and growth problems
  • Kidney differences
  • Spinal/bone structure differences
  • Developmental delays and/or learning difficulties
  • Behavioral concerns

10
What kind of medical managementis available to
these children?
  • It is important that the care of a child with
    Deletion 22q be managed and coordinated by a team
    of physicians and other professionals to ensure
    that all systems of the body are cared for
    appropriately.
  • Children may need surgery for heart or palate
    defects. They often need extensive speech therapy
    and even physical or occupational therapy.
  • They need developmental screenings early
    intervention services educational support
    services and they may need ongoing behavioral
    evaluations.
  • They typically require education planning and
    integration services to succeed in school
    settings and may need adaptive services and/or
    placements to achieve a high school education.

11
The outlook
  • There is no cure and many times parents receive
    guidance from several medical specialists for
    many conditions occurring over a childs
    lifetime.
  • Parents are often the most educated care
    management advocate for their kids which are
    times can be overwhelming.
  • Add to this the fact that learning and behavior
    difficulties can develop as the child grows and
    many parents are forced to advocate for their
    child in a school system that often does not
    understand our childrens needs because they
    dont physically look different from other
    children.

12
Where does FACE 22 fit in?
  • We provide a support network for parents and
    caregivers that often get overwhelmed.
  • We seek to educate teachers, physicians and the
    world at large about this condition and its
    prevalence.
  • We want to serve as advocates in research,
    diagnosis, treatment and future needs for
    afflicted individuals
  • It is our dream to establish a summer camp in
    this region for our kids to have a place where
    they can fit in and learn from others that
    struggle with the same issues.
  • To raise money to support education for families
    about this condition and how they can be better
    advocates for their children.

13
Our philosophy
  • A better understanding of Deletion 22q11.2 will
    increase the opportunities for our kids to reach
    their greatest potential.
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