Facebook Showed Me My Daughter Wasn't the Only One With Her Rare Diagnosis
From the time my daughter Kaia was 18 months old, up until January of 2015, I thought she was the only one. Medical databases didn’t have the answers, so who would have thought that Facebook would?
When she was diagnosed, I tried to Google; however, I found nothing. So I shut down about it for a few years. I rarely talked about it. Nobody understood. It was hard enough for me to understand it all, much less try to explain it to other people. In January however, things shifted. Kaia was going through some trials — trials that left me desperate. I decided to Google again. This time, I found Chromosome Disorder Outreach. Through the site I learned they had a Facebook page. Through their Facebook page, I discovered there was a support group for families of those with chromosome disorders. I joined the group. I saw people posting pictures of their kids, struggles they were going through, and they, too, were searching for others. My eyes were opened to a world I didn’t know had existed. So many disorders. So many unanswered questions for so many parents. I was not the only one. I was looking for a different match, but we were all on the same journey. Someone then mentioned that there was a specific page for Chromosome 7. So that’s where I went. I decided to post my story:
“This is my baby doll. Her name is Kaia Jayce. At 18 months old, she was diagnosed with partial 7p monosomy (7p22.3-22.2). To our knowledge we don’t know of anyone with her same deletion. She loves dancing, music, school and is always joyful. She’s our angel baby. She was observed to have a large forehead, wide-set eyes, thin hair and a mild developmental delay. She also has glial scar tissue all over her brain. We see a neurologist in March. She is almost 6. If anyone has a child with a close deletion, I would love to hear from you.”
This was posted on February 10, 2015. On March 8, a comment was made on this picture and it read:
“OMG! We have the exact same deletion! PM!”
She happened to be a mother I had spoken with before, but didn’t realize we were a match. I did indeed message her, and we instantly connected. We started comparing notes. Her daughter Clara had only been diagnosed two weeks prior to that. We formed this bond I can’t quite explain. I loved her. I loved Clara. And we had never even met! We lived thousands of miles apart, yet I felt this instant connection. I immediately knew we were in this together for life. That day will forever be a day that my life was changed, and I know hers was, too. We couldn’t believe both of our doctors told us we were the only ones, yet here we were, together, because of Facebook.
Two days later, we decided we wanted to share with the group how we found each other — to offer some hope to others and encourage them not to give up.
“I hope this will give some encouragement to anyone on this page. My daughter on the left has a deletion on her seventh chromosome, 7p22.2-22.3. I was told they didn’t know of anyone else with her same deletion. She was diagnosed at 18 months old and is now almost 6. I joined this page about a month ago. Amazingly, another mom was able to find a match for her daughter who has the same deletion as Kaia! I cannot express how thankful I am that this page exists. I hope this will encourage others to not give up hope if you’ve been told the same!”
This was posted on the morning of March 10. Something else amazing was about to happen. At 6:24 p.m. we received another comment:
“OMG! My daughter has the same deletion. She’s 9. I can’t believe it. I had to double check you said deletion not duplication. Because everyone I’ve come across has the same chromosome, but duplication. Wow!”
So in a matter of two days, I went from thinking I was alone — we all did — to knowing there were others out there.
And we all instantly connected. Erika, Anne and I shared a bond that cannot be broken. It was unbelievable to discover how alike we are. We were all from different walks of life, yet we shared so many things in common. So now we were up to three “matches.”
From there, we decided we had to be advocates for our kids. If we could find each other, we truly felt others were out there waiting to be found as well. We started brainstorming ideas. On a whim, we decided to make a Facebook page and see what happened. On May 10, we created 7p22 Deletion Awareness. Over the course of five months, we were up to 11.
Our own efforts at research and advocacy have blown our doctors away.
In five months, we had done what medical doctors couldn’t do. Due to ethical reasons, doctors cannot go on social media searching for matches. But when you put “mommas on a mission” in action, amazing things can happen! I hope our story will encourage others out there who are still on the search.
Because of our efforts, medical history is being made. At the upcoming American Society of Human Genetics (ASHG) conference in Baltimore this October, a poster presentation will be presented for 7p22 deletion. This is huge. It means 7p22 deletion will be presented to thousands of researchers, doctors, clinicians, etc. The name needs to get out there, to become known and help spur research.
The more awareness is raised, the more others will understand. Having a disorder so misunderstood and unknown leaves us, as parents, in a world that doesn’t know how to help our kids when they need it. They don’t fit into one box or the other. They’re kind of like this, and kind of like that. We are learning as we go, and so are the doctors, teachers, therapists and anyone else who helps our kids. This is going to be huge for our kids, but also for future kids diagnosed with 7p22 deletion. One day moms just like us will hear those words, and their doctors will actually have answers. Things of course will still be unknown. Even though kids share a deletion, it doesn’t mean they will be affected in the same manner. But knowing others are out there who they can connect with changes the game. The doctors will have a better picture, and in turn, so will the parents.
We hope to continue to be a support and a light of hope for those out there who have not been able to find and connect with others like their children. Our group is now up to 19, and it continues to grow. If you find yourself reading this and your child does have a deletion in the 7p22 region, please contact us. You can find us on Facebook at 7p22 Deletion Awareness. We are also on Instagram as @7p22del and on Twitter as @7p22del. You can contact us by email.
Below is the rest of the family we have found so far. Yes, I said family, because that is what we are. Here is a glimpse into the sweet world of 7p22 deletion:
Follow this journey on 7p22 Deletion.
Do you have a story about your experience with disability or disease? Maybe a moment that made a big impact on you? Please send it to commu[email protected] and include a photo for the story, a photo of yourself and a 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.