Help us understand the impact of your condition!

Thank you for considering taking this survey – we hope your responses will help us provide vital patient voice to the committee deciding whether to license the reproductive technique, preimplantation genetic diagnosis, for couples at risk of having a child with Freeman-Sheldon syndrome (distal arthrogryposis type 2A). Distal arthrogryposis types 1A, 2B, 5, 5D, 7 and 8 have already been licensed for PGD.

This survey will close on Thursday 8th November 2018 - if you wish to contribute after this date please email louise.coleman@geneticalliance.org.uk

Who can take this survey?

We welcome responses from anyone who has Freeman-Sheldon syndrome (distal arthrogryposis type 2A), whose family member has the condition or anyone who has caring responsibilities for someone with Freeman-Sheldon syndrome (distal arthrogryposis type 2A). We also welcome responses from patient organisations and support groups who represent those with the condition.

What is this survey about?

We’re looking to gather patient views on how their condition affects them, as well as the views of their family members and carers. We are looking to understand the impact that the different symptoms can have on a person’s day to day life. It is essential therefore, that we gain an understanding of the condition from those who really understand it – you.

From this survey we will present an accurate picture of the effects of this condition on patients to the HFEA as they make a decision on whether the condition is ‘sufficiently serious’ enough to licence for PGD.

What is preimplantation genetic diagnosis?

Preimplantation genetic diagnosis (PGD) is a technique that enables couples with a particular inherited condition in their family to avoid passing it on to their children. The process allows potential parents to conceive a child who does not have the genetic condition that they are at risk of passing on. PGD is used when one or both parents has a known genetic abnormality and diagnostic testing is performed on an embryo to determine if it has also inherited the abnormality.

We may also use the information you provide, fully anonymised, in our policy work, ie. to help us better understand the issues faced by people with genetic conditions in order to better support and represent them. If you have any questions about this survey please contact louise.coleman@geneticalliance.org.uk

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