When your child is diagnosed with a rare syndrome, you are at first overjoyed: YAY! We know what “this” is! Then you are back to being overwhelmed: What do they mean they don’t know what “this” is! A parent who spent years searching continues on, looking for answers, looking for a cure and (most desperately) looking for someone who has been there before who can give you a road map.
I spent the first five years of Bridget’s life without a road map. Not one doctor could tell me anything other than, we know something is wrong but we don’t know what it she has. Years of seeing doctors and specialists who would tell us that we are doing everything possible to make Bridget the best she could be, and to keep up the good work.
Then we were diagnosed with PACS1.
Journey over, right? Um how about it was just beginning.I thought the journey was over the day we drove to Georgia and the doctor told us we could do something called Xome sequencing and this “might” give us the answers to Bridgetitis. A few short months later, I received the call. At work. Can I just say for a moment how surreal it was to be sitting at my desk and receive a phone call that would give me the answers?
Me (sitting at my desk eating M&Ms): Hello?
Dr. K: Mrs. Ames, this is Dr. K and the test results are back.
Me (choking on my M&M): And…
Dr. K: Bridget has something called Phosphofurin acidic cluster sorting protein 1 or PACS1. I don’t know anything more than that, other than she is the first girl in the world whith the syndrome. The other two, boys, live in the Netherlands.
Me: Holy crap, only my kid would get a syndrome that only boys have!
Getting the rare syndrome diagnosis wasn’t the end of Bridget’s journey. It was a fork in the road that pointed us in a direction. What direction? I had no freaking clue. I just hoped the road didn’t end with a dead end.
As with most of Bridget’s encounters, there was a silver lining. Within a week of being diagnosed I found a parents support group. Bridget was not 1 of 3, but 1 of 12 (and she wasn’t the first girl!). The parents were welcoming, supportive and patient with my questions.
They didn’t have the answers, to some of my questions. Yet I was never judged for asking them.
Since the fall of 2015, when Bridget was diagnosed with a rare syndrome, our PACS1 family has grown from 12 to 45. I’ve gone from the questioning mom to the mom who might not have the answers, but I certainly know what doesn’t work.
For example: Don’t pretend this life is easy. Do lean on those who understand how overwhelmed you are.
Also, know that the journey continues.
For our family one of the highlights of our journey was meeting Bridget’s PACS1 sister, Kelly last year. Her mom and I had immediate kinship. Our husbands, immediately hit it off (though we doubt they talked about the same things). And the sisters? They finally had someone who knew what it was like to have a sibling with special needs.
This April our journey gets even better. Fourteen of the 45 families are converging on Williamsburg, VA. Yes, for the first time ever in the USA the PACS1 families who can rearrange their lives are meeting. It’s like a massive family vacation. We have families from Australia, Texas, Canada, New York, the Mid-West, the Mid-Coast and beyond. We are hoping to have a Skype/Facetime meeting with our co-parents in the UK and anyone who cannot attend. What started as a “let’s just get together” to holy crap, we are hosting a conference. We are having a big family dinner together. We are having a seminar. We are having a doctor who is interested in focusing on PACS1 come and learn from us. We hope, really hope, that there is a glass of wine together. Maybe that’s just me, some moms drink beer.
The point is, when you are diagnosed with a rare syndrome you feel lost. Until you realize that you are not alone in the journey.
You are leading it.
That is what they do not tell you, when you are informed that your child has a rare syndrome. That when your child has a rare syndrome, you (and the parents standing beside you) have just been elected to become an advocate. Not for your child (though you still hope) but for the new parent who just choked on an M&M.
Today is Rare Syndrome Day. A day when all parents of children who have come together and unite. A day when we say, not one family should be wandering in the journey of the undiagnosed. The parents of those children who have a rare disease must band together. They must join hands in promoting research, funding and (most importantly) camaraderie.
Alone we are scared.
Together we are mighty.
Bridget was diagnosed with PACS1 thru testing with GeneDx. I was not paid, nor do they know that I wrote this post. Unfortunately we had to travel 10 states and pay thousands out of pocket for a doctor who could order the testing. The GeneDx testing was covered through insurance. Our process shouldn’t have been so difficult. If you have been told that your child has a genetic abnormality, demand Xome sequencing (or the equivilant). You will find yourself not at the end of your journey, but at the beginning of a new chapter. I hope that you have a silver lining, like we did, and find your family.
If you would like to help fund research to help families find the answers to their undiagnosed child, please donate here: https://salsa3.salsalabs.com/o/51076/donate_page/research-program
You can designate PACS1 or you can have your donate be dispersed to all rare syndromes.
If your child was just diagnosed with PACS1, contact me at firstname.lastname@example.org so I can introduce you to the rest of the family.