Our genetic test results came back from the lab.
Turns out I have an identical genetic variant on the same SYNE1 gene that Elise has. Most likely the geneticists are assuming that because both Elise and I have that genetic variant and that it doesn't affect me-it likely has no affect on Elise. I could potentially be a carrier but they are leaning to it not being the cause of what Elise has. We recently have had some specialist appointments to rule out muscular dystrophy and have a few more appointments in the future to piece together this puzzle of a girl.
So that is the news of the week! We are happy and good. Every possible door that closes (like this last round of genetic information) is actually a step forward because things can get ruled out. An actual diagnosis may or may not change much; however, being able to know and determine or plan for the future may be useful.
At times it has gotten frustrating with how long and extensive this process has been. I have realized how little of patience I actually have.
Either I've been blessed with an incredible tender mercy or maybe I'm finally learning some patience and acceptance of God's hand in all this; probably a little of both. I don't feel the intense anxiety at having to know or like we're going around in circles. I'm not frustrated, disappointed or impatient of the answers we have been given or the lack thereof.
I finally feel content and at peace.
I guess it has been somewhat gradual because until recently have I realized how peaceful I feel about the whole thing. It feels like a huge weight has been removed from me. I know and testify that it is only because of our Savior, Jesus Christ's Atonement that this is possible. He is the true source of peace. In John 14:26 it reads, "Peace I leave with you, my peace I give unto you; not as the world giveth, give I unto you."
I know our Heavenly Father knows what my family and I need to learn; to grow into what we are to become. Sometimes an easy, fast answer isn't what's best.
I will continue to put my full faith and trust in God and in His timing.
I am often asked to describe the experience of raising a child with a disability. To try to help people who have not shared this unique experience, I hope this poem written by Emily Perl Kingsley helps others understand it, to imagine how it would feel.
"When you're going to have a baby, it's like planning a fabulous vacation trip – to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum, the Michelangelo David, the gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, 'Welcome to Holland.'
'Holland?!' you say. 'What do you mean, Holland?' I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy.
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to some horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy a new guidebook. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around, and you begin to notice that Holland has windmills, Holland has tulips, Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there. And for the rest of your life you will say, 'Yes, that's where I was supposed to go. That's what I had planned.'
The pain of that will never, ever, go away, because the loss of that dream is a very significant loss.
But if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland."
Written by Emily Perl Kingsley
Having Elise, I get to step back and view things differently. I get to experience holidays slower than most because I have to and thankfully get to. I can't help but be grateful that Elise is teaching me to slow down and enjoy what's around me in the moment.
Easter egg hunts with Elise means performing an act of service for someone who can't do it themselves, getting 20 candies rather than 100, and slowly walking from candy to candy rather than racing to get the most.
Halloween with Elise means slowing down to her pace. I decided instead of her sitting in the stroller watching her siblings run from door to door I would help her. Many would probably say, "Why don't you just leave her in the stroller? It would be easier."
I agree. It would be easier. It would be a whole lot easier to let my older kids run from house to house, collect their candy and us be on our way home.
Nothing that is worthwhile is easy.
I believe that every opportunity is a learning opportunity, for good or bad. If I had gone the easy route I, as well as so many others, would have missed out on a wonderful opportunity. I was reminded of what an Apostle of our church has said, "We would do well to slow down a little, proceed at the optimum speed for our circumstances, focus on the significant, lift up our eyes, and truly see the things that matter most." President Dieter F. Utchdorf.
What mattered most during that hour was my children and watching the joy that came across their faces. Elise was part of that and as I slowed down, proceeding at the optimum speed of our circumstance that night, I was overcome with joy and gratitude.
I admit, at the beginning of trick-or-treating I wondered if pulling Elise along from door to door was worth it. She screamed, tried and sometimes did, walk into people's homes, and grabbed handfulls of candy that I had to put back and apologize to the owners.
I wanted her included. I wanted her to be a part of our family's festivities rather than an observer like she so often is. Mostly I wanted more than anything was for her to feel included; that she belongs and is loved. After awhile, Elise got the hang of it. She soon realized that going from door to door meant candy and became almost giddy. Her silly giggles came and that smile that melts my heart came as well.
At each door I had her touch on her ipad, "Trick-or-treat." As she touched it, the ipad spoke for her. Not only was Elise able to say trick-or-treat through the ipad but those who listened to her stopped for a brief second in hurrying to hand candy out to "awe" at her. It was a very sweet experience. One man said in a most sincere way, "Wow!" After she was given her candy I had her touch and say, "Thank you." She eventually was able to touch both buttons independently.
This was work. It wasn't easy nor convenient carrying an ipad around and having to stop the person at the door to wait until Elise said her trick-or-treat and thank you. The payoff was worth it though. She not only brightened each person who listened to her, but I knew she felt included and loved.
I LOVE being a mom to my 5 kids; one with special needs. There is no greater joy than being a parent! I love each one individually but this blog will mostly focus on our daughter with special needs and our journey with her. Thanks for reading!