Friday, September 20, 2013

What I Know For Sure: Development

Martha is globally delayed. Every cell of her body is affected by her syndrome; each cell carrying an extra piece of 8th chromosome and a deleted end of 5th chromosome. Every chromosome contains genes that give the body instructions on how to function., and the result of her condition depends on the genes that are deleted and duplicated.

If Martha had a full Trisomy 8, she wouldn't be here today. The genes contained in chromosome 8, when fully duplicated, are terminal and incapable of sustaining life. However, Martha only has a partial duplication. Additionally, the deleted material on 5q is very small. Sadly, the deletion of even very small amounts of genetic material is hugely significant. Despite knowing Martha's chromosome arrangement, the impact is not fully ascertained. I am hopeful that in my lifetime more will be understood about this area of science.

Martha is hypotonic, which means low muscle tone. For those who are hypotonic, it means they have to expend  more effort to achieve the same result. This goes for everything. Martha gets fatigued holding her head or even being held. I often have to lay her on the floor to rest. To hold a small rattle will make Martha's arms quiver with the effort.

The muscles inside her body are hypotonic, too. Her esophagus, tongue and stomach are weaker muscle groups. Every movement and breath expends more effort and is tiring. Her lung muscles are weaker. Martha's inability to eat and her difficulty managing saliva, coughing, and choking are all attributed to her hypotonia.

Doctor Fail #1. Nearly all of our doctors have been incredible, but before her diagnosis, Martha was 3 months old and in the hospital for a second time. I told an attending doctor that I was very concerned about her development. Martha wasn't smiling yet and couldn't hold up her head. She was so weak I felt like I might drop her. I was crying to the doctor. He told me, "She'll probably just be a late walker. These are the kids that don't end up being the best athletes." 

Two weeks later Martha was examined thoroughly by a doctor who later wrote that Martha was "impressively hypotonic and developmentally delayed." Lesson learned: I can only work with people who will listen and take me seriously. My standards are admittedly very high when it comes to my daughter, and I don't have any patience trying to convince anyone of what I already know. This part of my job stinks, because when it comes to my daughter's care, I feel much like Mr. Darcy. "My good opinion once lost, is lost forever." 

At 9 months old, Martha can roll from side to side on the floor. She can hold her head up but tires. I can hold her upright in my arms for a short time.

She cannot lift her head off the floor when on her tummy, or roll from her tummy to back. She isn't able to laugh yet or make many sounds. She just met a HUGE milestone and is now able to reach for toys.

On the opposite spectrum of hypotonia is increased tone. Martha's arms, hands and feet display increased tone. Her hands are fisted and her toes are curled. She moves her extremities in a more fitful way. Often, to have her to hold a toy requires us to pry open her hand. When she drops a toy, it's simply gone for her.

I could go on and on about her development, but to be brief, she is much like a 3 month old, with the exception of the skills on her tummy, which are like a newborn. On a positive note, she is very engaging and aware. Her smile is gorgeous and her temperament is superb. I call her "Mommy's Joy." She might grow up thinking "Joy" is her name.

Written out in such a matter-of-fact way can seem grim. Trust me, it's not. Reading and rereading this myself sounds harsh when presented as fact, but the reality of it isn't bitter. This is just who she is, we aren't bothered by it. If I wrote a synopsis of my own life: "Mallory doesn't work, Mallory can't play golf, Mallory is mildly proficient at piano," it doesn't sound very encouraging. It is what it is. Martha will do a lot of things, but they will be on her timeline...not that it matters.

Babies who develop normally gain skills SO quickly that it is easy to miss their importance. For instance, Martha does not bring her hands together (midline) and clap. I couldn't tell you when or if my other children did this, because in the scheme of skills they were gaining, it wasn't on my radar. I've now learned, these small intermediary skills like clapping, or transferring a toy from one hand to another, play a huge role in brain development. These skills are so vital that Martha is getting therapy to be taught these skills that come naturally for most people. There is a lot to learn, but we take it in pieces.

Have a great weekend, everyone.


Abby said...

Loved the post, as always.. but I would change one thing. "Mallory doesn't work" - Sweet friend, you work harder than any other human I know. And you do it beautifully!

Mallory said...

Thanks, Abby. You're right, I do work long hours and everyday. I suppose I should clarify that my work is different from employment. Some days I think I want to be employed to give me a break from my work!

Thank you for your encouragement. I feel like our family has its own cheerleading squad. It's been a humbling, but a great blessing.

darlene said...

I have more than appreciated your posts as of late! I love your entire appreciation and description of life. Maybe it could or would seem harsh to some, I hear it as information and just natural. I'm different than some. A long time ago, I really just boldly embraced the dignity worth and soul of the person. The have nots, delays, deficiencies, etc are just physical...they don't hold a candle to their beauty and worth. You get that. It is good.

Steph said...

Mallory, you have such an incredible ability to write--your posts strip away all the "fluff" that can be (unfortunately) so highly sought for and valued in life, stuff that can cause so much unnecessary stress/concern/effort. While sharing life, raw and real, you are ministering to me and my role as mom, and I thank you for that. God bless.

Ana said...

Malory, I am so glad you have come back to blogging, it has been absolutely beautiful reading all of your posts, which I have been keeping up with even though I am not commenting all the time. You are a true inspiration, keep it up if you can!!

Mallory said...

Darlene, Steph, and Ana, thank you all so much for your words. They each mean something very special and touching to me.

I am very, very happy to be blogging again. I enjoyed the break, but I am enjoying the "push" now, too. Sorting things out in words outside of my own head helps to process it all, too. Hoping for the best!

Lisa said...

I'm so glad you're back to blogging, Mallory! I love your insight- especially the second to last paragraph here. Thank you so much for sharing.

The Author said...

Hey lovely. Would you mind much if I shared your post with a few of the moms I work with? I love how you have taken something that could be frustrating and made it a place to find hope and joy.

About a month ago 2.5yr old "D" was able to pull himself up to standing and with continued support move one foot in front of the other twice before stopping. When his foster mom and I were giddy beyond belief at this accomplishment most folks could only try to understand and match our enthusiasm. We tried to explain it but never quite matched the eloquence with which you were able to express these small-yet-great accomplishments.

Thanks for your continued Fiat. Much love to you, MM and the Severson fellas.