A university in Italy has agreed to take on a three phase study on ADSL! We have also volunteered Cyrus to participate in this study, though he will not be need until phase three if we get that far. There are several hypotheses on how ADSL deficiency results in the neurological symptoms, but none of them seem to be supported by strong experimental evidence. And the purpose of the first phase of this study is to use ADSL deficient cells, to see if we can better understand the mechanisms of how the disorder affects metabolism. This may lead to treatment options that treat the underlying issues, rather than just the symptoms! Right now, studies like these are Cyrus's best hope for a better outcome both in terms of development and life expectancy.
We are fundraising from multiple sources both within and outside of the university, including a Polish Foundation on ADSL that is donating to the university directly. The total study will cost about 250,000 Euros for five years, which amounts to about 50,000 Euros per year. From what I know of academic research, this is not an expensive study and the first year is already underway funded by the university. To make it easier to obtain grants and outside funding, they have asked for us to show a commitment from family and friends in support of this research. This will serve as a selling point.
I cannot communicate how difficult it is for us to get these kinds of studies going (and then funded) when there are so few of us! How difficult to create the perception of demand that is needed to get charitable organizations to care. And so I ask for your help to communicate this demand by offering a donation to this campaign (also linked in my side bar permanently). No donation is too small - the important point is participation from lots of people.
The initial description is in Italian, but if you click to the "Updates" tab, I have included a translation in English. If you would prefer to donate directly to the University, there are directions for how to do so in the description. We created the GoFundMe page simply to make it easier to donate.
And just so you know, currently $12 is about equal to 10 Euros.
Thank you for supporting my family and all of these beautiful children! Please share!
