Some of you will recall we mentioned this last year and several members completed the survey shared by the Federacion Española Síndrome de Noonan y Otras Rasopatías (Federas), our counterpart organisation in Spain. This survey was produced as part of a study on anaesthetic risks associated with Noonan Syndrome and other Rasopathies. Well, Federas have now been in touch to express their gratitude and those of Dr Villamar and her team at the Ramón y Cajal Hospital in Madrid who are leading on this project. Thanks to the international collaborative network of various Noonan Syndrome family groups around Europe and beyond (including NSA of course), they have 100 completed survey forms. This has provided them with enough data to allow them to start to plan the clinical study on anesthesia risks and other problems in Noonan Syndrome and the other Rasopathies. However, they still need to gather another 100 surveys before they can begin the study, which is why we are requesting your help again. The survey is anonymous and the link is here: http://es.surveymonkey.com/r/DKRL5RZ but if you would like to learn a little more about the reasons for the project,
here is a translation into English by Federas of part of a letter from Dr. Villamar, in which she explains the project and its origins.
Translation of Dr Villamar’s letter:
As you know after the molecular study of a case of two twins with Noonan syndrome by mutations in the PTPN11 gene, with a fatal outcome during resuscitation after a cardiac intervention in one of them, we asked ourselves the question of whether patients with Noonan Syndrome could have anesthetic complications in greater proportion than other patients, or if the case of Nerea and Paula was merely casual.
The exhaustive bibliographical review gave very little light to the question because the descriptions of the anaesthetic process were very scarce or nonexistent, assuming that the complications that could arise were complications derived from the fact that many of these patients have important cardiac alterations.
With the aim of trying to obtain a more satisfactory answer and counting on the invaluable help and total dedication of the parents of the aforementioned patients, we set out to launch a survey as a probe to other patients with Noonan Syndrome to see if we could find any suggested association. If this were the case, then we would propose a research project in which all the associations would have a place together with other clinical professionals and geneticists specialized in the subject.
We currently have the information of more than 100 completed surveys and we believe that the results are encouraging enough to try to collect at least 100 other surveys to finally assess the development of a properly structured research project, taking into account that in the Service of Genetics of the Ramón y Cajal Hospital in Madrid where we work, we have the scientific experience, infrastructure and equipment necessary to face a study of the characteristics that we would pose.
Thanks for your cooperation.
Dr. Manuela Villamar
Servicio de Genética