iWill4Will

Last year our world came crashing down around us when we realized our together baby had a very serious neurological problem. Last year at this time we had seen a pediatric neurologist, a geneticist, started physical therapy and were waiting for the results of our lumbar puncture and genetic tests. In July, on Will's 1st birthday, we were told that our boy had a rare genetic disease that affected only 400 in the world. We were told that the pending genetic test would likely confirm this diagnosis but based on the lab results, he was given the provisional diagnosis of Aicardi-Goutieres syndrome, a terminal disease. Our worst nightmare as parents was a reality. We were told that there was a clinical trial at Children's Hospital of Philadelphia and the medication being used was helping children like Will feel better and even restore function in some cases. We hustled, faxing information, imaging, and planning our trip to CHOP for the following month. The genetic test results came back normal. Everyone scratched their heads because Will's symptomatic presentation was strikingly similar to those who have this rare genetic disease. We looked for mimicks of the disease, still nothing. We were told that we could not enter the trial and receive the medication because Will did not meet the inclusion criteria. We were crushed. We had to sit and watch this invisible monster steal from our boy. Not only did he lose his previously gained skills, but he was miserable.

The past year has been a blur of visits to CHOP, medication trials, and therapy visits. Still, we asked, can we treat Will with something to reduce the inflammation in his brain? I have been a squeaky wheel to our local neurologist, crying over the phone every time we talked. Finally, we got the call from CHOP about access to the drug.

CHOP requested emergency access to the drug Baricitinib for Will. Baricitinib has been FDA approved for Rheumatoid Arthritis, but not AGS. CHOP has been treating children with this drug as part of their research program and finding improvements in many children. This drug is not a cure but has improved clinical symptoms in the enrolled children. Will is going to receive this drug, and we need to go to CHOP for 10-12 days to obtain baseline labs, EKG, and an echocardiogram. He will receive his first dose while we are at CHOP and they will give us medication for the next month to bring home. This medication cannot be prescribed, so we must travel to CHOP to obtain it and have lab testing done. We will need to return to CHOP the end of August for another 3-4 days. This medication has side effects; we need to closely monitor Will's lab work and protect him from respiratory illnesses.

We will ask our friends at PALS to help us with air travel. Flying commercially is very expensive, but it also places Will at risk for acquiring illnesses from other travelers. Will has not had all of his vaccinations because of his fragile condition. People have offered monetary donations and until now, we have been reluctant to accept these gifts. We have wanted to hold off on accepting this kind of help until the expenses become burdensome. We have decided to set up a trust to help protect donations that we receive for Will's medical needs. We are in the process of doing that, but for now, we are going to set up a GoFundMe to help with hotel and meals while we are in Philadelphia July 18th-27th. This fund will also be used when we travel back to CHOP for 3-4 days in August.

Keep our boy in your thoughts; we are grateful for all of the love and support along this journey. We will continue to update our page with Will's infectious smile and soulful eyes. WeWill