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Chromosome Disorder Awareness Week 2017

Chromosome Disorder Awareness Week runs from 11 - 17 June 2017

Chromosome Disorder Awareness Week logo

12 June 2017

Leigh Day is this week supporting the charity Unique during Chromosome Disorder Awareness Week (11 – 17 June 2017). 

Unique provides specialist information and support to families coming to terms with the diagnosis of a rare chromosome disorder, and also gives key information to the medical professionals caring for them.

Gemma Castrofilippo, solicitor in Leigh Day’s clinical negligence team, has represented clients on a number of cases involving misdiagnosis of fetal chromosomal disorders during pregnancy, resulting in the birth of a child with disabilities. 

Such claims are known as ‘wrongful birth’ claims, a term which many parents find distasteful and hurtful as it suggests that their child is not loved or is now not a wanted member of the family. This is not the case. However, ‘wrongful birth’ is the term used by the courts to describe a claim brought by a parent, usually primarily the mother because she is more likely to be the person who received treatment, who was deprived of the opportunity to avoid conception or terminate a pregnancy because of negligent treatment, diagnosis or advice. 

In one such case, Gemma’s client had sought specific genetic counselling before pregnancy and targeted antenatal testing once pregnant due to a known familial genetic disorder.  

Unfortunately due to a combination of inadequate information, failure to request further information and a subsequent failure to report the sample properly, the fetal chromosomal abnormality (duplication of genetic material that was predictable as a result of the known familial disorder) was not picked up antenatally.  

The client continued with the pregnancy and her son was subsequently diagnosed, at two years of age, with a chromosomal abnormality resulting directly and predictably from the known familial disorder. 

The child has developmental delay, learning difficulties, overgrowth problems and is not expected to be able to live independently. A £2.4million settlement was obtained for the child’s future care needs.

It was during this case that the work of Unique was brought to Gemma’s attention by her client. 

Due to the rarity of the child’s chromosomal disorder, treating doctors were unable to provide information about the child’s likely development and long term prognosis. 

The client began undertaking her own research and found Unique who, with reference to their database, were able to provide access to information about the child’s rare disorder, plus offered the client much needed support and reassurance, at a time when the client and her family felt very alone.

In another of Gemma’s cases, antenatal chromosomal testing was misreported as ‘normal’ due to failures in the checking of a trainee cytogeneticist’s conclusions. Soon after the child was born his chromosomal disorder was diagnosed.  He has generalised developmental delay, impaired intellectual ability, limited speech and language skills, reduced fine motor skills and will always require adult carer support in his day to day life. A settlement of £1.9million was reached in this case for future care needs.

Gemma says: “At a time when those affected by rare chromosomal disorders can feel there is nowhere to turn, especially when treating doctors themselves have limited information, Unique comes into its own.  

“It is a very special charity, assisting both affected families and treating doctors alike.  While I am able to help my clients with the legal aspects of bringing a claim, the information and support offered by Unique is invaluable in helping families come to terms with their diagnoses and ultimately in making them realise they are not alone”.

Information was correct at time of publishing. See terms and conditions for further details.

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