Face 22 Families Advocating for Chromosome Education

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Face 22Families Advocating for Chromosome
Education

• Deletion 22q11.2

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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

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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.

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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)
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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

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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.

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The FISH Test
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Blank arm Deletion 22
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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

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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.

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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.

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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.

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Our philosophy

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