Sunday, September 18, 2011

Madelyn & Cornelia

In another life, I was considered to be quite the writer. Back then, the words just seemed to flow for me. And yet, I've been staring at my computer screen for the past hour, trying to convey the balls of information that are rolling around in my head. Nothing sounds right. I can't think of an introduction that appropriately leads into what I want to say. And honestly, I'm not sure how my very very small audience will interpret my jumbled thoughts. I'm sure there are those who are exhausted by my posts that revolve around Madelyn. I beg for your patience. This is yet another Madelyn post.

About a month before Madelyn's first birthday, we went to see a genetics doctor at Primary Children's. The physical and developmental problems she had been experiencing were suspicious. She had thus far been diagnosed with developmental delays, cerebral palsy, failure to thrive, profound hearing loss, major visual impairments, and a few other things. It was all too much to be coincidental, like lightning striking twice in the same spot. Or in her case, six or seven times. We knew that there was something wrong, something that Madelyn wasn't going to "get over" or grow out of. The doctor confirmed what we felt: he told me that he was 90% positive that Madelyn has a genetic syndrome called Cornelia de Lange syndrome.

The syndrome is not that common- it occurs once in 10,000 to 30,000 births. CdLS happens when there is a mutation of genes found on Chromosome 5, 10, or X. From what I understand, it's most likely that Madelyn's form of CdLS occurred due to a random mutation on Chromosome 5. This means that her case is moderate to severe, instead of mild. It also means that our future children are not likely to have CdLS. Fortunately, with this diagnosis, we have a better idea of what to expect in our life with Madelyn. For more information about Cornelia de Lange Syndrome, you can check out the CdLS Foundation website.

When we first realized that Madelyn would be permanently disabled, we were devastated, and I was terrified of what life would hold for her and for us. I worried that my ignorance and fear would affect my view of Madelyn. I worried about other people's reaction to her, and whether she would be treated well despite her differences. I worried about how our other children will eventually feel about our life, and especially about how they will feel about the amount of attention and help Madelyn will require. I was in a constant state of worry about things that weren't actually a problem, were outside my control, or might never come to light.

More and more, I am struck by how much we have been blessed. Jason and I have the sweetest, most wonderful child. In fact, she is far more perfect than I could have ever imagined. She is happy, funny, opinionated, and incredibly entertaining. Madelyn has the most delightful smile, and silliest little giggle. She is most certainly not like other children, but I know that Madelyn will always be an incredible source of joy for us. Like my mom says, Madelyn will always be my baby.

I have also been incredibly grateful for the way our family, friends, and even strangers have treated Madelyn. Our families have been so supportive and loving. Jason and I even joke that Madelyn gets so spoiled by the attention that's lavished on her by our families, that when we come home, she goes through withdrawals. Our friends have also been continually kind and concerned about Madelyn. However, I have been most surprised and relieved by strangers' reactions to Madelyn. Sure, we've experienced a fair amount of blatant staring and displays of ignorance, but the more common reactions are curiosity and acceptance. Almost every time we go anywhere- whether it's church, or shopping, or wherever, someone stops me to ask about Madelyn, or to tell me how cute she is. I cannot recall a single instance where a person who asked about Madelyn was not kind. In many instances, these complete strangers are parents of disabled children, and offer great words of comfort and encouragement. More than one person has told me that Madelyn's place in our family is an amazing blessing. I tend to agree with their assessments.

I absolutely love being Madelyn's mother. I have my dream job, and it's wonderful. A lot of my worry has been replaced by excitement for the future- to see what Madelyn will do, and what she will be like. I know she's an incredible person, and her presence in our family will push us closer to our ultimate goal.

In case this is all super sappy, let me assure you: life is still hard. It isn't filled with flowers and butterflies and pure awesomeness. We have our fair share of the smelly, the messy, and the grumpy. Madelyn can be super naughty ( she's pulled out her feeding tube pretty much everyday for the last two weeks, and most of the time, it's deliberate). Madelyn can also be super grumpy. Mommy can be, and often is super grumpy. Like the store, and last Jason. I have also become quite unsympathetic about some things- like mothers crying about their babies getting their shots. I know, I'm horrible, but it's only because I've lost count of how many times Madelyn's been stabbed with a needle, and because I frequently have to pin my child down, and shove a tube up her nose, down her throat, and into her stomach. But I still don't have a good excuse for being unsympathetic.

When it comes right down to it, what I'm saying is this: for the most part, life is good. Furthermore, our life is pretty normal. Yes, we have a ridiculous number of doctor's appointments and therapy visits. But our main concerns? School, money, spending time together, and keeping Madelyn clothed (our child won't stop growing- 90th percentile for height people). Pretty normal stuff. Normal stuff which I hope I start remembering to write about. Oh, and pictures.


  1. Great post Megan. Your right most families feel that their disabled child is a huge blessing in their lives. It's a different road, that people with typical children will never know. you guys do an amazing job with her and have SUPEr attitudes about the whole thing.

  2. have to share this i just read/listened to on the BYU Chanel. It's from a devotional at BYU Hawaii from McKay Christensen.

    I’ll tell you a quick story about my father and President McKay. My father was called to be the Branch President of a branch of the church at the Utah State Training School. The school was a school for handicapped, mentally and physically, young adults. President Hugh B. Brown had a granddaughter there and was very interested in the progress of Dad’s branch. President Brown visited the branch often.
    One day, my father and neighbor who had been instrumental in the building of the church building at the school, traveled to Salt Lake with President Brown to give to President McKay a plaque made by the branch members. They took along a young man named Dary who was a mentally handicapped young man as a representative of the Branch. President McKay was aging and his health was suffering, so they went to visit President McKay in his apartment.
    President McKay was in bed, yet he shook Dad’s hand and welcomed the group. Dary then presented President McKay with the plaque. After which, in Dary’s innocent enthusiasm, he unexpectedly threw his arms around the neck of President McKay and gave him a big hug, and told President McKay he loved him.
    Well, President McKay was weak and lying in bed. And he started to cry. Not because Dary squeezed him so hard, but because he was so moved by Dary’s genuine expression of love. President Brown then bore testimony of the special place in eternity God has for the mentally handicapped here on earth. To this day, my Dad still speaks reverently of that experience with a prophet of God. My father loved serving as Branch President and loved the members of his branch.

  3. Ha ha, yes! And many, many pictures! Megan, I love you--always have. ;) I've known for many years that if there's anyone who knows how to make lemons into lemonade, it's you! You're so wonderful and that's why you have such a choice spirit. I'm still so excited for the day I can meet her!

  4. Thanks Megan for your wonderful example. You and Jason are amazing, and doing a wonderful job with Madelyn. She is a special spirit and you can see that every time she smiles. She is such a joy!

  5. I hope you know how great of an inspiration you are to me. I just want to tell you that you and Jason are amazing parents, absolutely wonderful. Madelyn has been such a blessing in my life, too, and I have learned things from having her in our family that I don't think I could have any other way. I love you guys so much!

  6. This is an amazing post megan! I am so impressed by you as a mother every time I stalk you on facebook or saw you in church back in the day. Seriously though, I'm so glad that they found out what Madilyn has, it sounds very interesting. I'm curious to read more about it.

    Keep posting so I can read more about your life!