The Results are In

Originally written 10/22/19:

It has been three months since we received Iris’ genetic diagnosis and to be honest, it Is still sinking in. I actually wonder if there is ever a time when a diagnosis like hers fully sinks in as the magnitude of the statistic is immense. Several years ago, we participated in a research study about autism - you can read about the study here! SPARK FOR AUTISM

The study is a large scale genetic study that looks at the genetic make up of individuals with autism and their immediate family members. We filled out a few assessments, sent in some saliva samples in an easy to use kit they sent directly to our home and that was it.  We were told that we would get results only if they found something abnormal. So much time had passed between sending in the samples, that I honestly did not expect to hear back, but then, in early July, I got an email that stated that they had results for Iris and that if we were interested in learning the results to contact them.  I think I actually stopped breathing for a few seconds when I read the email. For years, doctor after doctor has said things to us like “your daughter is so unique, we have never met anyone like her before,” or “her profile is so interesting, but I can’t exactly pinpoint a cause of her symptoms” and now, we had the chance for an answer.  I knew it was going to be some kind of diagnosis, as it had to be since we were only going to be contacted if they found something.  I responded and then waited.  When the diagnosis came, it was a single page with a brief genetic report and stated simply that Iris had a condition called “Xia Gibbs Syndrome,” which I had never heard of.  We scheduled a phone conference with a genetic counselor from the study, but in the meantime, I immediately started googling (you know, like all modern moms do) and found a short list of links that would tell me more about this disorder.  As I read, for the first time in over 8 years, I felt like I was reading something that described Iris exactly. Characteristics of autism, respiratory issues, motor delays, intellectual disability.. the list went on. And then scrolling through, I saw the alarming statistics. Less than 100 people in the world had been diagnosed with this disorder. 100 people. In. The. World.  When I saw how short the list of links from the google search was, I can only describe how I felt as lost. We had been handed a diagnosis with virtually no guide book, as there is no guide book for a disorder that affects so few people that very little is actually known about it.  I felt like overnight, we had gone from the autism statistic of 1 in about 60 children being diagnosed, to being 1 OF LESS THAN 100 diagnosed.  Literally every single person in the world with her diagnosis could all be standing in the same room at the same time.  The thought of this is profound to me, and very hard to grasp.

In the past three months, we have been learning and we are going to continue to learn all we can about Xia Gibbs in order to help Iris and also to hopefully help other families who are facing the same diagnosis.  I have learned that there are more families who are diagnosed from the original statistics I read that were slightly outdated and that new families are being added to our XGS family each day as high level genetic testing becomes more available. The last number I heard was still less than 200, though it is believed that there are more individuals out there who carry this diagnosis but do not know about it, due to the fact that they have not undergone genetic testing.  We are going to be going through more medical testing to rule in or out some medical complications that often come with her diagnosis and will likely continue to do this in the months and years to come. We have been contacted by universities asking for information about her, as researchers want to learn more. I have spent time talking to doctors, filling out IRB permission forms and releases of information, being asked to possibly talk to the press about the research study that diagnosed her.  We are balancing fear of discovering new risks for her with the power and medical safety that lies in increased knowledge about our child’s condition.  I have made new friends through social media with families who share the same diagnosis, and have found support from parents who know more than us and from parents who are learning along side us.

When I shared the news about Iris with one of my friends, he said “she’s basically the most extraordinary person I know.” This is a very accurate statement and as we press on through this journey, I believe that she will always continue to be the most extraordinary person I know in so many wonderful ways.  This diagnosis does not change who she is, but we hope that it is going to help us understand her a little more, so that we can give her the best life possible.