Some time ago, I wrote about our journey with genetics and that we were given a somewhat vague diagnosis of a rare syndrome (you can read about it here and here . I didn’t want to mention the name of the syndrome until we were positive that’s what Eve has, because google does not sugarcoat the outcome. I didn’t want any unnecessary worry and while we knew all the symptoms of this disorder matched Eve, there was still some investigation to be done. Our geneticists wanted to consult with expert on this syndrome and also wanted to conduct more tests to make sure Eve had all the markers of this syndrome.
After a couple of months of no progress and no communication, I started to reach out to other parents whose children had this syndrome. With only 350 confirmed cases worldwide, it was hard. I did make contact with a wonderful mom who let me in to a facebook group. Thank God for facebook, we found our little community. And also, we found the two doctors who have dedicated their lives into studying this syndrome.
I reached out to a doctor in DC and by email, we were able to get some preliminary information. We were invited to see her at a clinic and we set up a time to discuss details. Over the phone, it was confirmed that Eve has this syndrome. They had seen her specific mutation and her symptoms before. In some way, that was a relief. We have found someone who understood. And it also crushed me. Eve has a syndrome with a sad outcome.
It’s called Aicardi-Goutieres syndrome and out of the 5 subtypes, Eve’s is one that doesn’t have the best outcome. It’s not something we would ever want for our sweet girl, but there is also comfort in knowing what it is. There are opportunities for clinical trials that we will consider and the expertise of a doctor who knows this syndrome well. AGS is rare and Eve is the first known case from Ghana. My mind goes back to her life in an orphanage and I am so glad Eve doesn’t have to go through this alone. There were no therapies, medications, testing and treatment plans available to her there. And today, she lives within a driving distance away from world class care. There is such comfort in that.
We will travel to DC in June to learn more about Eve and what options are available to her.