Related Disorders
The degree of the medical problems and disability can vary widely in children with a related disorder because the genetic material that is extra or missing will be different in every case, and the professional opinion of a clinical geneticist should always be sought.
Click the headings for information.
Mosaicism
There is an error in the cell division after the fertilised egg splits into two cells....
Partial trisomy and deletions
In a partial trisomy there is a small extra piece of a chromosome attached to another chromosome. This may be called an unbalanced translocation....
Ring chromosomes
In some rare cases chromosomes can form rings due to a loss of genetic material from both ends of the chromosome....
Holoprosencephaly (HPE)
Holoprosencephaly is when the front part of the brain fails to develop into clearly separate right and left halves, and although a baby with holoprosencephaly may have normal chromosomes, it is common in trisomy 13 ....
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Adam
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Lily
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Carol
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Mia
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Rubi
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Naomi
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Samantha
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Ellie
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Lewis
Nominate them before 3rd May for the 'Who cares award' for the chance to win them a break.
InsuranceWith, supported by Genetic Alliance UK, have launched the Who Cares Award to give carers the opportunity to be recognised for all of their hard work. The awards will be based on nominations from the public or through dedicated charities of those people who support others, dedicate their lives or put their lives on hold to care for others. Candidates can be young or old, a professional nurse or a relative. You can nominate someone you know here.
SOFT UK Northern Ireland Family Day 2013
The Northern Ireland Family Day will take place on Saturday 10th August at the Charelmount Arms Hotel in Armagh.
Join other SOFT UK families to chat, share experiences and bring the children along for the fun activities! There will also be some remembrance time for those families who wish to remember a loved one.
As always everyone is very welcome!
Refreshments will be provided.
For more information and booking, please contact enquiries@soft.org.uk
Siblings Research Project
Joanne Fullerton, a Trainee Clinical Psychologist with Bangor University is completing a study investigating the experiences of siblings of children with life limiting conditions. She is looking for volunteers to take part. The aim of the study is to better understand the experiences of this group of siblings. If you are the parent of a sibling aged between 3 and 16 years, and you and your sibling child wish to take part, simply email her on j.fullerton@bangor.ac.uk or contact her via telephone on 07957 620608
SOFT US Website Launch
Our colleagues at SOFT USA have just launched their new website. It has a fantastic new look at contains lots of resources for families and also professionals. There is a comprehensive research section, providing all the details of the latest research on Trisomies and related issues. There are some beautiful family stories and videos and links to all their support materials. The site also has a foreign language translation function for those who first language is not english.
SOFT US have worked in partnership with us for many years and have kindly given us permission to feature their content on our own site, making sure that all families have access to the information that they need.
So head on over and have a look at www.trisomy.org
CEN report on Emotional Impact of Tube Feeding in Scotland
The CEN have published their results on their work improving support for families in Scotland of children who are tube fed. The full report is available here. http://www.cen.scot.nhs.uk/files/Emotional_Impact_Evaluation_Jan13.pdf
