Tuesday, February 9, 2016

The New Normal

Well, that's sort of pre-mature..."The New Normal"...can we call this "The New Normal" if we're still in shock...I don't know.

A long time ago, this blog was about my life and the artwork that I sold downtown in Lancaster, PA. At that time, all was great. I had a little boy who was so cute, and I was "arty." I stayed home and played with my son and painted.

Then, I had my beautiful daughter Mimi. She stopped gaining weight, and stopped growing too. Turns out she has pituitary dwarfism (who knew!?)...so my blog became a journal for her diagnosis and our experiences with using Growth Hormone. She will have a shot nearly every day until she stops growing.

Now my focus is changing again, and this is what happened:

My son Max turned 9 in August of 2014. In September of that year, he started 3rd grade. At that same time, I noticed that his back suddenly had bad posture with slumped shoulders. In fact, it startled me.

In November of 2014, the week of Thanksgiving, I went to my son's first school conference of the year. It was not a good conference in that my son suddenly was having  trouble in all of his afternoon classes (despite being put in an advanced/gifted reading time in the morning)...hmmm.

The teacher pulled out my son's writing samples and my heart sank. My eyes got big, and I said, "That is his writing?" I noticed that compared to the year before, his writing was now really messy and limited as well. I said, "I need to take him to the doctor. I need to bring those papers to the doctor." (I took him in the very next day.) (Which caused my son's primary doctor to turn a different shade with worry, and order an Echo/EKG/Neurology Eval).

Within about 20 days- for many reasons, I withdrew my son from school- much to my own shock and everyone else. (This is now one of the best and coolest things I have ever done in my life!) I began to homeschool him and we started having a great time together again like the days when he was little. We also went to many doctor appts and tests. As the year progressed, the therapies began (2x week), and the appointments got more and more and more serious.

(Just short of) One year later, Max was diagnosed with (so far) Congenital Fiber Disproportion Myopathy type 1. This is a finding in a few different forms of Muscular Dystrophy. Max is now waiting for genetic evaluation to find out which exact type of MD he has. Dr. Wicklund at Hershey believes that Max has a Collagen gene abnormality and may have Bethlem Myopathy. This type of diagnosis is not easy to make and requires clinical evaluations (in our case 1 Nero, 1 Genetics, 2 Neuromuscular), an EMG and Nerve Conduction Study, and a Muscle Biopsy (sedated/in surgery/please be here at 7am type of thing). We also had many blood tests, 2 MRI's (head and hips/legs), an EEG, a Dexascan (above), pulmonary testing, etc etc.

So that is the deal, but as the days go by, things are more and more complicated. And so, my future blog posts will describe my observations in dealing with my son's MD...and how we are getting on. I have had my share of  medical jargon as well as vacant looks from people who "don't get it." There is also very little online about the real day to day aspects of Bethlem Myopathy or Collagen abnormalities or Limb Girdle Muscular Dystrophies...so I hope my blog is found by people like me looking for something to relate to.

In my future blog posts, I will focus on an observation, or a story, or a single thought. I will go into personal detail...as that is what I think is missing from the "World Wide Web" in regards to MD. I am prepared to tell it like it is.

I hope that other moms and people with Muscular Dystrophy will relate to our experiences.  I have decided to just add to my original blog, instead of starting a new one. With so much going on, this is easier for me. I also felt that by keeping and adding to Sweet Maggie May, that you may also look back and realize what our life was like "before." That helps tell the story, don't you think?

With Love,


Christy Ahern said...

I will be reading. Your family amazes me and your sweet Maggie May and Mr Max sure are two amazing kids.

sweetmaggiemay said...

Thank you Christy! you're the best:) hugs!