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.
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