Searching for answers
For the first year of Brady’s life the doctors just thought he was behind from being premature. His pediatrician reassured me it’s normal for premies to take till their first birthday to “catch up”. I began to think there was something wrong long before the doctors but I was 24, a first time mom and had zero experience or credibility so what did I know right? I knew that my baby wasn’t supposed to throw up 6 feet across the room every time he ate, I knew he wasn’t even close to meeting any milestones and I just knew he was different but how do you explain a gut feeling to a Dr.. At this point his only diagnoses were acid reflux, cataracts and torticollis. His one year check up came and the answer to every question was no, by far. He could barely sit up on his own, wasn’t making any eye contact and couldn’t tolerate any solid food. I could tell his Dr was worried but didn’t want me to know. We were referred to neurology, occupational therapy and physical therapy. Six months later with very little progress, I was scared.
I spent the next three years on a mission. I did endless amounts of research, took him to every specialist I could get him into, he was in 4 hours of therapy a week and started preschool on an individual education plan(IEP). He was misdiagnosed multiple times and I knew hundreds of things he didn’t have but felt no closer to an answer two years later. Now the symptoms were endless. Seizures, sleep apnea, anemia, microcephaly, unsteady gait, non-verbal, low muscle tone, sensory issues, anxiety, constipation, behavior problems, ezcema and a duplicated renal system. Why couldn’t anyone figure out what was wrong with my baby?
Finally in April of 2015 we saw a Dr that took interest in Brady. I could see the determination in her eyes, the same look I saw when I looked in the mirror, she wanted to help. I left teary eyed and hopeful. She sent us to human genetics for a micro array and it came back inconclusive. I felt defeated, I’d lost all confidence in the medical industry and with no real diagnosis insurance questioned everything. It was a nightmare!
We went back to see that same Dr a year later and she sent us back to human genetics for more in depth testing, something called a microcephaly panel. By the time we could get an appointment it was June 2016. The genetics Dr did another exam, took blood and said she’d call when the results were in but there was a 50/50 chance it would come back inconclusive and it would take 3-4 months.
October 31st 2016 is a day ill never forget. As I’m getting the boys ready for trick or treat I get the call. The call that I’d been waiting for, the call I thought I wanted for years. The nurse said, do you have 20 minutes? I of course said yes. She said we have an answer, Brady has DYRK1A syndrome. It’s a mutation of chromosome 22 and there’s less than 100 people in the world with this diagnosis. First diagnosed in 2008 and we know very little about the prognosis. My heart sank, I wanted to scream, cry and escape but it was halloween and my kids needed me to be strong. Despite feeling like I’d been punched in the stomach and given a life sentence I picked myself up, brushed myself off, hugged my kids a little tighter than normal and we had a great halloween. I never imagined the answer I wanted for so long would make me so scared. Something in me changed that day. That’s when I decided I wanted to help others in similar situations. At the time I didn’t know how but here I am..
My advice would be don’t give up but enjoy the good times along the way. Take care of yourself and don’t take no for an answer. For me, music is therapy and one of my favorite songs to listen to when I’m feeling defeated is Stand by Rascal Flatts. Find what works for you! If you know anyone going through anything similar send them my way.
Here’s some pictures from our journey..
I think you are onto a good thing!
I hope so! Thank you💕
This is amazing! You are doing a great thing!!
Thank you so much!😊
My dear Hope and Brady, and the entire Family,
Oh, my, you have been through so much. I’ve known so little about your “adventure”; Thanks for sharing your story for all to read. Sometimes having the answer is not the answer we want. You are now stronger than before, and more determined. Brady is so fortunate to have you for his Mom.
Love, and many Hugs,
Karen
Karen,
Thank you!😊 I couldn’t do any of it without my wonderful support system. Miss seeing you at family get togethers. We’ve been praying for you!
I had no idea all you’ve been through with Brady! I will be praying for you in new ways now. Love you so much, Hope. I admire you and what you’re doing. I’ve been reading a book by John Piper called “Don’t Waste Your Life”. Everything that God has brought into our lives is for a purpose, and when we go through difficulties, we can know that He wants us to use our experiences to help others who may be going through something similar. I know you will do a wonderful job of this! Wonder if you’ve ever read this little essay? I hope it will give you encouragement along your journey, Love, Polly <3
WELCOME TO HOLLAND by Emily Perl Kingsley.
c1987 by Emily Perl Kingsley. All rights reserved
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this……
When you're going to have a baby, it's like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books 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 a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. 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….and 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."
And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very 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.
c1987 by Emily Perl Kingsley. All rights reserved
Wow! What a beautiful essay. I couldn’t have said it better! It’s goes along so well with the message of beautifully unexpected😊 I got the chills reading it. Thank you for that and for the kind words and sharing my blog. I couldn’t do anything I do without my wonderful support system.
Thank you again,
Hope
<3
Wow!! You’re a very inspiring woman!! Us special needs parents go through more than what people know!! Thanks for sharing yours and Brady’s journey!!
Yes we do!! Thank you for the kind words😊
Hope, it was so great meeting you last night!! I also have a Kam! Kamren is 3-1/2 years younger than Kayden and sounds just like your Kam! We were terrified to have another child after what we went through with Kayden, but deciding to have a sibling for Kayden was the best decision we could have made! I hope other special needs parents do the same, even through the fear. Thank you for sharing your journey through this blog! You are a wonderful mom! As tough as life can be, I always thank God for picking me to be their momma! I look forward to getting to know you better and to offer support for each other!
Becky
It was so nice to meet you too! I agree, I was scared to death to have Kameron and at one point during the pregnancy was told he was high risk for Down syndrome. I’m so excited to see what we as strong women can accomplish together. The sky is the limit!
Thank you again,
Hope