Rare Isn't So Rare After All

Before Audrey was born, I was a teacher at a high school with a high population of students with special needs. I remember sitting in on one of the moderate to severe special ed classes, taking notes for a paper I had to write. I left feeling proud to be part of a school that valued students like them, while also concluding that my only experience with this population would be as a teacher. Yes, I was one of those people who thought, "That will never happen to me or my kids..." It's not like I longed for my kids to be all-stars or Prom Queen or Valedictorian. I just wanted them to have a healthy, normal life.

Fast forward a few years...



1 in 100,000 was the statistic given to us when Marcus was diagnosed at 4 months old. Even the neurologist who gave us the diagnosis had to look up Joubert Syndrome because she had never come across it before. To be the only ones in our circle to have a child with a syndrome and on top of that, to be faced with a very rare one, made us feel dreadfully alone.

I've come across some new statistics recently.

- An estimated 350 million people are affected by rare disease worldwide.
- 1 in 10 Americans is affected by a rare disease. That's over 30 million people, which is greater than the total amount of people living worldwide with cancer.
- There are more than 7000 rare diseases with some of them affecting less than 100 people.
- 75% of rare diseases affect children.
- Almost 80% of rare diseases are genetic in origin.
- These conditions are chronic, life-threatening, and fatal. There are no cures for these diseases and only 5% of them have any type of treatment.
- Over 50% of rare diseases have no foundation, advocacy group, or community support.

The loneliness we felt after Marcus' diagnosis has diminished after realizing that the world we thought was caving in, was actually a new world that was opening up to us. Perhaps it was the world that Jesus saw...the one full of people who were sick and lowly.

I'm thankful that Joubert Syndrome has opened our eyes to the fact that millions of people are affected with sickness, pain, and loss. Because of Marcus, we've "met" and heard about the most courageous people from all over the world who are caring for loved ones, have buried loved ones, and who are also experiencing for themselves the immense challenges of disease. It's really the Prom Queen who lives rest of her life pain-free forever after that is the true rarity.

I'm writing this post to bring attention to World Rare Disease Day on February 29th, which is 30 days from now. The number 30 is significant because 30% of children with rare disease will die by their 5th birthday. And for many of these children and parents, there is very little support. If you know Marcus and have followed a bit of our journey, you know how thankful we are for the support we've received. To think there are families going through far greater challenges with little to no community (and medical) support weighs heavily on my heart.



Please help raise awareness for rare disease by visiting the Global Genes Project Facebook site. Their goal is to unite 1 million supporters and spread the word for rare disease. If you want to learn more, please visit the R.A.R.E Project site. To read more personal posts and how rare disease has affected others like Marcus, read along on the Blog-Hop by clicking on the blogs below this post.

Thank you, dear readers, for loving Marcus, loving our family, and for taking up issues like these that are close to our heart.

Remember, Ma?

Without a doubt, Derek's birth is the most memorable of the 3 kids.  Not just because it was the most recent one, but because it was the most anticipated.  When Audrey and Marcus were born, I just expected for them to be healthy.  But after Marcus' diagnosis of Joubert Syndrome and learning that any child of ours would have a 25% chance of having it, Derek's birth was a huge question mark and up until he was born, we didn't know what to expect.

I'm not sure why, but I've been thinking a lot lately about how Derek was born and how crazy it is that God would allow us to have him. I was about to look for this picture of him in the hospital.  The one we took after the neonatal team checked him out, gave the "he's all good", and put him on my chest.  He laid down on his side, steadily breathing on me as my heart beat at a surprisingly calm rate and our eyes locked.  For having just entered the world, he was unusually alert and wide-eyed and as he looked at me, it was as if he said, "I'm here, Ma.  I know you and Dad prayed like crazy for me. But it's okay.  I'm okay.  You don't have to worry."

But then I realized it was a picture never taken on film, but a mental picture, which are the best ones for sure.  The kind that are in vivid 3-D color, etched on my heart for a long long while.

Yes, God was gentle with us. He allowed Derek to be free of Joubert Syndrome and all the challenges that come with it.  Yet, I pray God nurtures in him some of the characteristics that his older brother has because of Joubert Syndrome.  Courage, persistence, hard-work, humility, and love to name a few.  I also pray God will nurture in him some of the things his older sister has had to learn from Joubert Syndrome as well, such as patience, selflessness, understanding, and unconditional love.

These days, I feel like there's a silent understanding between Derek and me.



When he's not toddling around and getting into trouble, his beady little asian eyes look up at mine as if to say, "Remember? Remember when we met? So yeah, I told you not to worry about me struggling with Joubert Syndrome. But you see, there will be plenty of other things I have planned to keep you on your toes. Just wait and see."



Gladly, my son.

Pause

Daily life can get complicated and busy and full of lots and lots of stuff to take care of. Not just physically, but mentally and spiritually as well.  Just like many of you, there's been a lot for me to juggle recently, taking care of A & B while C & D are in mid-air, then catching C & D on my lap so I can attend to E & F for a little while before it's time to catch A & B again.

But yesterday, it was as if time froze, I was able to step away from A through F, to be led to Z. A Facebook friend posted a link to this little boy's story. If you can, please read about Tripp, his amazing mom, and lift up a prayer for them.

And then today, another time-freeze moment for me. Marcus got his new glasses yesterday. They are prism glasses with a little bit of a prescription as well. He wasn't too thrilled at first, but today, he asked to wear them in the morning. Here's a short list of all the things he said while wearing his new specs:

- Everything looks so color-y.

- Look at the trees!

- May I wear them a little longer?

- I look like Daddy.

- Telling the Trader Joe's clerk: I got new glasses. They're cool!

And my favorite...
Me: Is God helping you see?
Marcus: Yes, God is helping me see through the glasses.

I'm very thankful to have been able to pause from the daily juggling act to experience two totally different sides of the emotional spectrum. Sadness and grief for a child I've never met, and joy and gratefulness for a child of my own.  But I'm seeing how many times, my thankfulness is born of my grief.  Although my burden will never ever compare to the weight that Tripp's mom carries, there is a contentment that only blooms in areas of my heart that have been tilled with despair.  So I'm praying for her...that she will somehow know a peace that surpasses all understanding because she's going through a pain that only few can fathom.

I Want To Be Like My Kids

I really shouldn't be blogging right now because I've got a bunch of paperwork to fill out, the laundry is cuh-ray-zee, and I should get to bed at a decent time, so this will be a quicky:

Just realized something about my kids while flipping through some older pics: My kids have very little idea about the weight I carry in my heart on their behalf. They don't know that I worry about A, B, & C.

Marcus doesn't know that I want to cry when I see him work so hard.



He doesn't know how often my soul is anxious when thinking about his future. (Below: Marcus with his PT, Mr. Mark, who is the bomb.)



He's just simply living his life as a 4 year old boy. Happy, full of life, abounding in joy through the simplest of things.



This one is blissfully content to have something to eat everyday, a place to sleep, and a family to play with.



And this one? She is all good, as long as she knows she's loved. (Below:  Audrey circa 2006?)



And that's how I want to be. To be content, at peace, and abounding in joy because all my needs have been met through Christ who continues to pour out His love on my every single day. There is nothing to want because He's got it all taken care of. That's what my kids are teaching me.

Grateful Blogger Here

I didn't know when I opened my Xanga account 7 years ago, that blogging would be such a blessing for me. I also didn't know that we would have Marcus in our lives and that through him, we would learn so much, have a whole new world opened to us, and "meet" such beautiful people who were also raising children with special needs or going through different trials of their own.

Thanks for reading along and sharing in this journey with us. Thank you, also, for your prayers, emails, encouragement, and your undeserved generosity to me and my family. We are unbelievably blessed by you...more than you'll ever know!