Download What are rare chromosome disorders?

The Unique Network
Supporting families affected by
Rare Chromosome Disorders
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Why we are here today
• To tell you a little bit about the charity Unique, and
how we joined
• What challenges families affected by a rare
chromosome face
• How Unique helps families
• But first, a guide to what a rare chromosome is….
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
What are chromosomes
• The human body is made up of billions of individual CELLS, each
cell contains a NUCLEUS. Inside the nucleus are the
CHROMOSOMES, which contain GENES
• We each usually have 23 pairs of chromosomes in every cell
• Chromosome 1 is the largest, with 22 the smallest. The 23rd pair
are the sex chromosomes (males = XY, females = XX)
• Of the 23 pairs of chromosome in each cell, one member of each
pair is usually inherited from the father and the other member from
the mother
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
What are rare chromosome
disorders?
• When changes or mutations in chromosomes are so small
they affect the DNA coding in a single gene – these are called
single gene disorders e.g. Cystic Fibrosis
• Chromosome disorders usually involve loss or gain of copies
of many whole genes and can be classified into two groups:
– Numerical disorders
– Structural disorders
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
What are numerical chromosome
disorders?
• Where one extra complete chromosome is present it is known as a
Trisomy.
– e.g. Trisomy 21 is more commonly known as Down Syndrome (where there are
3 copies of chromosome 21)
• Two extra complete copies of a chromosome is known as a Tetrasomy
• If a complete chromosome is missing, this is known as a Monosomy.
• If only some of the body’s cells carry the extra sets of chromosomes, then
this is known as Mosaicism
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
What are structural chromosome
disorders?
• Structural disorders occur because of breakages in a chromosome.
• They can occur spontaneously (commonly known as DE NOVO) or they
can be inherited from a parent.
• Types of structural chromosome disorder include:
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–
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Duplication i.e. an extra copy of a segment of a chromosome
Triplication i.e. two extra copies of a segment
Partial Deletion i.e. loss of a segment
Balanced or unbalanced translocations i.e. where segments of two or more
chromosomes swap places or are lost and/or gained, respectively
– Ring chromosomes i.e. where both ends of a chromosome are lost and the
remaining ends stick together to form a Ring
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
An example of chromosome
G-banding
Notice part
of
chromosome
18 is missing
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
My Story in 60 seconds…..
• About me and my child
• How we were told
• How Unique has helped us
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Rare chromosome abnormalities present
extraordinary challenges to families - 1
Rarity – “individually rare but collectively numerous”
• At least 1 in every 200 babies is born with a balanced or
unbalanced rare chromosome abnormality (Hook et al. 1992, Jacobs et al. 1992)
• 1 in 1,000 will have physical and/or learning disabilities
Families experience feelings of:
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–
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Isolation
Shock
Guilt
Physical & mental stress
Rare Chromosome
Disorder Support Group
-
Bewilderment
Desperation
Loneliness
Bereavement
www.rarechromo.org
Registered Charity No. 1110661
KARYOTYPES
Karyotypes – how do families describe their child’s chromosome
abnormality to other people?
Imagine trying to explain what your baby’s disorder is when the only
“name” the disorder has is a karyotype like this!
46,XX,t(3;7;12)(3pter->3p12.2::7q31.3::3q25
->3p12.2::7q21.2->7q31.3::3q26.3-> 3qter;7pter->7q21.2::12p12.3>12pter;
7qter->7q32::3q25->3q26.2::12p12.3
->12qter)
More sophisticated analyses like FISH and microarrayCGH bring even
greater challenges
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Rare chromosome abnormalities present
extraordinary challenges to families ~ 2
•
A complex set of symptoms
-learning disability
-physical disability
-developmental delay
-medical issues
-unusual facial features
-challenging behaviours
-mental health problems
•
Genetic “time-bomb”
-late-onset conditions
•
Lack of information
•
Multiple professionals involved
Rare Chromosome
Disorder Support Group
-co-ordination of services
-communication
-who breaks the news?
www.rarechromo.org
Registered Charity No. 1110661
Rare chromosome abnormalities present
extraordinary challenges to families ~ 3
• Families often break up under the pressure
• Mental health and well-being
• Stress on the extended family e.g. siblings,
grandparents
• Lose friendships and other relationships
• Financial and employment difficulties
• Lifestyle change
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
How can Unique help?
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Telephone & e-mail helplines
Computerised database
Family linking service
Local contact network
Website with private discussion forum
Regular conference
Newsletter
Family-friendly, medically-verified information
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Some of our family–friendly
material
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Family-friendly Brochures & Factsheets on over
50 rare chromosome disorders completed
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Unique Membership Growth
Membership
at September
2007
6000
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numbers
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Lottery grant/
Development Officer
employed/
Website launched
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0
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Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Unique Membership
Worldwide
Over 5600 member families & professionals representing 6000+ individuals with a
rare chromosome abnormality in 69 countries at September 2007
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
How you can help Unique
• The group is run predominantly on a voluntary basis, mainly
by parents of children with rare chromosome disorders
• Unique employs 1 full time and 5 part time staff on short
term contracts continuation of which depends on our success
in applying for grants
• The day to day running of the group is funded by donations,
covenants and fundraising activities, so
thank you for your generosity
Rare Chromosome
Disorder Support Group
www.rarechromo.org
Registered Charity No. 1110661
Finding out more about Unique
Visit our website
Email us at
Telephone helpline
Write to us at
Rare Chromosome
Disorder Support Group
www.rarechromo.org
[email protected]
01883 330766
P.O. Box 2189
Caterham
Surrey
CR3 5GN
www.rarechromo.org
Registered Charity No. 1110661