'My brother's baby has just been diagnosed with a rare disorder. How can I help them?'

our online advisors reply:

Hi Sheena, thanks for writing in. It sounds like you are concerned about your brother's family and want to know what you can do to help them at this difficult time.

Kabuki syndrome is a relatively recently described syndrome which is thought to be caused by a very small abnormality in one of the chromosomes. Although the syndrome is rare, more children are being diagnosed as medical professionals gain awareness of Kabuki.

Children and adults with Kabuki syndrome have a distinctive facial appearance. The term 'Kabuki' was derived from their facial resemblance to the makeup of actors of Kabuki, a form of traditional Japanese theatre. However, the range of characteristics associated with Kabuki syndrome is very varied. You can find lots of useful information about Kabuki at: www.kabukisyndrome.com/kabuki.html, which describes the characteristics of Kabuki and its possible effects on a child's physical, behavioural, social and intellectual development. It also has information about the common challenges faced by parents of children with Kabuki and some real-life stories from parents.

As well as finding out more information about Kabuki syndrome, your brother might find it helpful to speak to other families who are affected by Kabuki or a similar disorder. While it is useful to increase their understanding of the condition, it can be a real help to know that there are other families who understand the problems they face and to be able to speak to them about the day-to-day issues that they might encounter.

There are a number of organisations that you or your brother could contact for help and advice.

Contact A Family supports families that are caring for disabled children and children with specific health conditions, including rare disorders. They produce a range of factsheets on issues including benefits, special educational needs and social services assessments. They've even got a special section of the website which is just for dads. You can find the website at www.cafamily.org.uk or you could contact them through their helpline, which is available on 0808 808 3555 from Monday to Friday 10am-4pm.

They really understand about the difficulties faced by families who have just discovered that a child has a rare disorder. On their website they state: 'Individuals and families are devastated when they are told that they, or a child in the family, has any disorder but when it is a very rare condition they face added problems such as difficulties of diagnosis, lack of clear information and variation of advice and treatment around the country. The Contact a Family Directory is a positive response to difficulties encountered by parents and professional workers alike when they seek reliable and up-to-date information.'

Alternatively, you could try the Rare Chromosome Disorder Support Group. They link families whose children have similar clinical or practical problems and set up local groups throughout the UK for families affected by any rare chromosome disorders. They have a helpline on 01883 330766 or you can explore their website at www.rarechromo.org.

If you want to do some more research yourself, the following websites are useful places to start. They have details of a very wide range of genetic conditions and syndromes, and will generally provide a medical description of the condition, together with details of the related support networks – their activities, publications and what they offer to families.

• www.prodigy.nhs.uk/PILs/pilself.asp?ini=Genetic%20/%20Syndromes
• www.equip.nhs.uk/topics/genetic.html
• www.kumc.edu/gec/support

I hope this is helpful, and you can find some useful advice for your brother and his family.

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