Title: Face 22 Families Advocating for Chromosome Education
1Face 22Families Advocating for Chromosome
Education
2What 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
3The 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.
4How 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)
5How 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
6How 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.
7The FISH Test
8Blank arm Deletion 22
9What 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
10What 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.
11The 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.
12Where 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.
13Our philosophy
- A better understanding of Deletion 22q11.2 will
increase the opportunities for our kids to reach
their greatest potential.