Disney World STX Meet & Greet 2018
Donation protected
Hi, I’m Emily. And I have a 3.5 year old daughter who is one in 29.6 million.
Literally.
It’s kind of hard to explain what you feel after you get a diagnosis like STXBP1 gene mutation. I was devastated. Confused. Overwhelmed. Sad. Angry. Worried. And Relieved. Relieved to finally have an answer.
But the feeling that stuck out the most? I felt isolated.
On August 30th, 2015, I was told my daughter had a mutation on her STXBP1 gene, and that there were only 144 cases in the WORLD. Now, there are about 250. I was also told my daughter would always be nonverbal, was intellectually disabled, had tremors, and had a HUGE risk of having uncontrolled seizures (95% of our kiddos with STX do). Oh, and they really couldn’t tell me much more about her disorder as for treatment, prognosis, life expectancy, etc...Because they really didn’t know.
That’s isolating.
So imagine my feelings the morning of November 1, 2015, when I found a facebook group called “Parents of Kids with STXBP1.” And I was accepted to the private group. And my husband and I scrolled. And read. And laughed. And cried. As we learned more about our daughter’s diagnosis in 30 minutes than we had the whole 2 months we had a name for her disability.
And then I was incredibly blessed to find out another child with STXBP1 (a girl!) lived 20 MINUTES from me. I will never forget the day I walked into her beautiful home, and saw sweet Sydney “flail” her arms like my Piper does. Like my Piper. I never meet kids like my Piper. It took everything in me to keep it together.
Let me tell you a little about our rare kids. They are beautiful, happy, unique, amazing children. There is a spectrum amongst our kids. Some of our kiddos have limitations such as wheelchairs and feeding tubes. Some of our children are able to walk and eat typical food with assistance (but are developmentally delayed in theses areas). Most are nonverbal. Many have tremors and/or movement disorders. Almost all have severe epilepsy. Some have other diagnoses too, and others are only diagnosed with STXBP1.
The most important thing I have learned from connecting with families from our group is to live. Because the paths for our children can change in a day’s time. We have lost 3 of our rare kiddos in the last few years due to complications from STXBP1. Three of our few. And sometimes the seizures worsen during puberty, and can cause major regression, and our kids who could once walk, can’t anymore.
And this knowledge, my friends, puts a new spin on life. Not to be sad and pessimistic, but to live. To appreciate. To love. To cherish. To travel.
My husband has always been a dreamer. Almost to a fault, especially because I am very much a realist. I suppose we balance each other out. So I bit my tongue the day he told me he wanted to have a STXBP1 gathering at Disney World in Orlando, Florida. It was difficult not to roll my eyes, as the idea seemed so impractical. I figured we would have a couple families agree to it. So he threw the idea out there, and there are SIXTY families interested. SIXTY STX-ers! People will be traveling from all of the United States, Canada, Australia, and Europe.
So in May 2018, we are having an STXBP1 “Meet and Greet” in Disney World. Disney World is the perfect place for this reunion for a few reasons. Many of our children LOVE characters and many of them love rides. Disney World is extremely accommodating for disabilities of all sorts. And it’s the happiest place on earth! Our children DESERVE the most magical vacation! And so do the siblings, who sacrifice so much for their siblings with special needs. And so do the parents, who spend their days scheduling therapy, calling insurance companies, calling doctor’s offices..the list is truly endless.
Renting out a space for a conference room for a group this size is not cheap, and we would appreciate your help so much to make this Meet and Greet possible. We are beyond excited to celebrate our children and their rare disorder. I cannot wait to look around a room and see the uniqueness of each child, but also the similarities they all exhibit. And I cannot wait to talk to parents that day who understand me. For the first time in my daughter’s 4.5 years, she will belong. And for the first time in my 4.5 years of parenting, I will belong too.
And each and every one of us will feel a little less isolated.
Literally.
It’s kind of hard to explain what you feel after you get a diagnosis like STXBP1 gene mutation. I was devastated. Confused. Overwhelmed. Sad. Angry. Worried. And Relieved. Relieved to finally have an answer.
But the feeling that stuck out the most? I felt isolated.
On August 30th, 2015, I was told my daughter had a mutation on her STXBP1 gene, and that there were only 144 cases in the WORLD. Now, there are about 250. I was also told my daughter would always be nonverbal, was intellectually disabled, had tremors, and had a HUGE risk of having uncontrolled seizures (95% of our kiddos with STX do). Oh, and they really couldn’t tell me much more about her disorder as for treatment, prognosis, life expectancy, etc...Because they really didn’t know.
That’s isolating.
So imagine my feelings the morning of November 1, 2015, when I found a facebook group called “Parents of Kids with STXBP1.” And I was accepted to the private group. And my husband and I scrolled. And read. And laughed. And cried. As we learned more about our daughter’s diagnosis in 30 minutes than we had the whole 2 months we had a name for her disability.
And then I was incredibly blessed to find out another child with STXBP1 (a girl!) lived 20 MINUTES from me. I will never forget the day I walked into her beautiful home, and saw sweet Sydney “flail” her arms like my Piper does. Like my Piper. I never meet kids like my Piper. It took everything in me to keep it together.
Let me tell you a little about our rare kids. They are beautiful, happy, unique, amazing children. There is a spectrum amongst our kids. Some of our kiddos have limitations such as wheelchairs and feeding tubes. Some of our children are able to walk and eat typical food with assistance (but are developmentally delayed in theses areas). Most are nonverbal. Many have tremors and/or movement disorders. Almost all have severe epilepsy. Some have other diagnoses too, and others are only diagnosed with STXBP1.
The most important thing I have learned from connecting with families from our group is to live. Because the paths for our children can change in a day’s time. We have lost 3 of our rare kiddos in the last few years due to complications from STXBP1. Three of our few. And sometimes the seizures worsen during puberty, and can cause major regression, and our kids who could once walk, can’t anymore.
And this knowledge, my friends, puts a new spin on life. Not to be sad and pessimistic, but to live. To appreciate. To love. To cherish. To travel.
My husband has always been a dreamer. Almost to a fault, especially because I am very much a realist. I suppose we balance each other out. So I bit my tongue the day he told me he wanted to have a STXBP1 gathering at Disney World in Orlando, Florida. It was difficult not to roll my eyes, as the idea seemed so impractical. I figured we would have a couple families agree to it. So he threw the idea out there, and there are SIXTY families interested. SIXTY STX-ers! People will be traveling from all of the United States, Canada, Australia, and Europe.
So in May 2018, we are having an STXBP1 “Meet and Greet” in Disney World. Disney World is the perfect place for this reunion for a few reasons. Many of our children LOVE characters and many of them love rides. Disney World is extremely accommodating for disabilities of all sorts. And it’s the happiest place on earth! Our children DESERVE the most magical vacation! And so do the siblings, who sacrifice so much for their siblings with special needs. And so do the parents, who spend their days scheduling therapy, calling insurance companies, calling doctor’s offices..the list is truly endless.
Renting out a space for a conference room for a group this size is not cheap, and we would appreciate your help so much to make this Meet and Greet possible. We are beyond excited to celebrate our children and their rare disorder. I cannot wait to look around a room and see the uniqueness of each child, but also the similarities they all exhibit. And I cannot wait to talk to parents that day who understand me. For the first time in my daughter’s 4.5 years, she will belong. And for the first time in my 4.5 years of parenting, I will belong too.
And each and every one of us will feel a little less isolated.
Organizer
Kyle Jones
Organizer
Ballwin, MO
