As an infant, Jordyn developed on the tail end of the milestone check list. By her first birthday, though, she was still only cruising furniture. Her pediatrician said not to worry - that she wasn't delayed until she wasn't walking at 18 months. I didn't want to wait until she was delayed. This is the same pediatrician whom I had to fight to get an order for an EEG when Jordyn began having tremors. By April of 2015, Jordyn still wasn't standing on her own. I didn't want to admit it, but there was a problem.
MO First Steps came in to evaluate her. We found she had speech, fine motor, and gross motor delays. Shortly after, she began having tremors. She could no longer crawl or turn pages in her board books. We began physical therapy & speech through First Steps at the end of May and switched pediatricians. The new pediatrician referred us to a neurologist at St. Louis Children's Hospital and we had an appointment for an MRI in August.
September 2, 2015, we had an appointment to go over the MRI. We were in a tiny room with an experienced neurologist, a neurologist in her first week of residency, and a white brain matter specialist. They were very solemn as they began showing us the images. They explained that Jordyn's white brain matter was too bright - that it should be darker. The rest is a blur as they uttered the word "Leukodystrophy". We were broken. Randy nearly lost it. I knew I had to stay strong for our family so I pushed the sorrow and despair away. They ordered blood work to test for what they suspected was Alexander disease. We went downstairs to the lab the same day and they drew Jordyn's blood to send off to a lab out of state for genetic testing. The following month would be the longest month of our lives as we waited to hear the results. Part of me prayed it would be Alexander disease so we would have answers and a plan of action - so we'd know what was causing the problems and we could move forward - so Jordyn wouldn't have to endure months or even years of testing only to not get answers. The other part of me prayed it was negative, that nothing was wrong and we were worrying for nothing. The motherly instinct in me knew the latter wouldn't happen.
A month later, on October 2, 2015, Jordyn and I were driving to my cousin Lawrence's wedding. I received a call from an unknown number and I remember the pit in my stomach that I felt as I answered the call. It was Jordyn's neurologist, Dr. Patel. It was way past office hours so I knew it wasn't going to be good news. She uttered the words "positive" and "Alexander disease" and told me not to google it, that what I read would scare me. I solemnly hung up the phone.
In the parking lot of the wedding venue, I cried my eyes out as my heart shattered into a million pieces. My beautiful baby girl was sick and there was nothing I could do to fix it. In that moment, I let go all the feelings I'd been hiding since the day we got the Leukodystrophy diagnosis. We went in to the wedding as if nothing had happened and I tried to have a good time and keep a smile on my face. It was HARD.
Looking back, I realize now that that was the turning point for me. I was able to accept it and move forward. That was the moment I gave it to God and gained peace in my heart. From that moment on, I vowed to do everything in my power to help Jordyn, no matter the cost or effort. Her life is worth it. Today I can honestly say that I'm at complete peace and know that God is taking care of us. I feel his presence every day. I will never stop fighting and I will never give up. We have been very blessed, ever since, with new friendships, prayers, and an incredible amount of support. Some days are hard, but those hard days are fewer and fewer as we move forward. We've adjusted to our new normal and have learned to live one day at a time. We have to do what's best for Jordyn and that's perfectly fine.
We have hope in a cure in Jordyn's lifetime. We have an amazing team of doctors working tirelessly to find a cure for Alexander disease. We have a wonderful Alexander disease family that will stop at nothing to save our babies, and an awesome God who is watching over us. Today is a good day!
You can follow Jordyn's journey on Facebook at http://www.facebook.com/jordynsbeautifullife.