1. Rare Chromosome Disorder Support Group www.rarechromo.org Registered Charity No. 1110661 The Unique Network Supporting families affected by Rare Chromosome Disorders

2. 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….

3. 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 23 rd 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

4. 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

5. 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

6. 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: –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

7. 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

8. 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

9. 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: –Isolation- Bewilderment –Shock- Desperation –Guilt- Loneliness –Physical & mental stress- Bereavement

10. Rare Chromosome Disorder Support Group 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

11. 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 -co-ordination of services -communication -who breaks the news? Bev – what’ a simple word for this?Bev – what’ a simple word for this?

12. Rare Chromosome Disorder Support Group 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

13. Rare Chromosome Disorder Support Group www.rarechromo.org Registered Charity No. 1110661 How can Unique help? 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

14. Rare Chromosome Disorder Support Group www.rarechromo.org Registered Charity No. 1110661 Some of our family–friendly material

15. Rare Chromosome Disorder Support Group www.rarechromo.org Registered Charity No. 1110661 Family-friendly Brochures & Factsheets on over 50 rare chromosome disorders completed

16. Rare Chromosome Disorder Support Group www.rarechromo.org Registered Charity No. 1110661 Unique Membership Growth Lottery grant/ Development Officer employed/ Website launched Membership at September 2007

17. 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

18. 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

19. Rare Chromosome Disorder Support Group www.rarechromo.org Registered Charity No. 1110661 Finding out more about Unique Visit our website www.rarechromo.orgwww.rarechromo.org Email us at info@rarechromo.org Telephone helpline 01883 330766 Write to us atP.O. Box 2189 Caterham Surrey CR3 5GN