Italy

So I did it. I flew to Rome for three days to attend the World PCDH19 Conference. I didn’t think I could/would make it work because, honestly, the thought of leaving Esmé made me dizzy with fear.

But, as my step-father said–I had to decide whether I was really “in this thing” or not. And the only answer was, of course, that I am. I felt it was way too important to be there with my partners Insieme per la Ricerca PCDH19 – ONLUS, to meet all of these researchers, to ask the questions I have…and my fantastic family and Esmé’s fantastic caregivers helped us make it happen.

And I am just so thrilled about how the trip went that it is hard to know where to start. Our partners in Italy put together quite the event, I must say–complete with two lovely dinners with all the researchers hosted in the homes of a friend one night and their doctor the other night. It was truly fantastic that they planned these events because it allowed all of us to talk casually, sharing information about the girls, discussing where the research and collaborations need to lead, and just all getting to know more about each other.

The conference papers themselves were very interesting–spanning work about current research that is attempting to understand the mechanisms of PCDH19 using iPS cells, the potential role of some neurosteriods in “protecting” unaffected mothers, the potential of GABA receptor interference in patients with PCDH19. Other papers presented clinical observational data about case numbers, phenotype range, treatment, and seizure types.

All of the papers focused on the wide range of presentation of PCDH19 spanning from fully unaffected women and girls to severe epilepsy and intellectual disability. Much of the work suggested that, moving forward, we need to focus on how to gather and share clinical data across countries (and even within countries) in order to better understand the phenotype. It seems that some of the data gathered to date may be self-limiting. For instance, only girls with the most severe cases are tested for PCDH19 and only through them we find a number of mildly affected or unaffected women–who effectively broaden the phenotype. But if there are other factors in the disorder expression that have not been well documented they might help clinicians find another population of affected girls/women.

Hypotonia is one such area. Several of the clinicians I spoke with reported that they see a large number of cases of girls with low tone when I asked them specifically–but this is not a piece of information that is generally collected in the case histories, so it would be hard to know how wide-spread it is. If it is a factor, we could hypthesize an affected girl with very low tone and mild epilepsy who was assumed to have a neuromuscular disorder and is never tested for PCDH19.

But most of all I was truly impressed by the strong spirit of interest, collegiality, and collaboration that characterized this event. Our Italian partners have done such a tremendous job of bringing important minds together on this topic and modeling an open-minded and collaborative spirit that is–ultimately–how we will get things done for our girls. In networking with all of the researchers I found all of them to have an interest parental experiences, ideas about how research best might proceed, the role of parent-run foundations in helping to move the cause forward. Several doctors were especially helpful in this respect and I was able to spend a lot of time with them picking their brains, which was truly exciting…and I know this process will continue until our next conference now that we have had the opportunity to get to know each other in person.

I am so grateful to Insieme per la Ricerca PCDH19 – ONLUS for their hard work and devotion to this cause…thank goodness they are doing what they do!