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,
Maggie

What is Chromosome Analysis, High Resolution?

Days after our first Growth Hormone follow-up appt, we headed out at 7am this Friday morning for some blood work at Hershey. On Monday, our Dupont Endo ordered an 8am Cortisol test. We can't figure out why Mimi is obsessed with eating all and what she does. The Endo thinks maybe it's the salt she craves. Scary...so we are ruling out adrenal/cortisol problems.

Also on the list was a CBC, PLT, and DIFF, a Comprehensive Metabolic Panel, and finally a test that will say if Mimi has Turner Syndrome. (apparently this is what should be considered whenever a girl is short stature.) Mimi's Endo doesn't think she looks like a Turner girl, but we want to rule it out. I am interested in what this High Resolution Chromosome Analysis test shows. If she does not have Turner syndrome, will something else show up? Having denied an amnio test for Down Syndrome when I pregnant with Mimi, it is interesting to realize that this looks similar to what an amnio might have shown back then. So four years later, maybe we'll learn something.  Here is a link to the information:

Chromosome Analysis, High Resolution - Quest Diagnostics Nichols Institute Education Center

We are so happy for Mimi. She grew 2.5 inches so far on Nutropin. She began her shots on April 19.
She is still very petite, but looks so tall to me. We are excited for what the future holds for her. She is already stronger with more muscle tone. She is also sleeping much better. It's very exciting to see her growing, as she had stopped growing (!) in November 2013, shortly after she turned three.
This photo is from her first appt at Dupont on March 31, 2014.

 And on August 4, 2014.

Mimi works with Play Doh and sings with Paul Simon...

Join me for a day, and if we leave the house Mimi shall bring her player. No need to turn on the radio. She'll play "Me and Julio..." and sing along, pressing repeat until we get to our destination.

In this video she listens carefully and then the singing starts up and she joins right in- working happily and singing. My sweetie...

Officially Growth Hormone Deficient

Mimi had a busy end of November, with two trips to Hershey Endocrine. On November 18, she underwent a morning long Growth Hormone Pituitary Stimulation Test- which is three and a half hours of blood draws. Awake and alert...hard enough for adult. Imagine getting this done at three years old.
If your child is having growth issues, it can take a long time to get to this test...and so for us, it was a major milestone, that we knew would lead to her diagnosis.

The results came back a week later, and we came in to hear them.

My little sweet petunia failed the test quite impressively, proving to ALL that she is Growth Hormone Deficient, and has Pituitary Dwarfism.

The two tests they ran came back in the 2 and 4 range with an average of 3.
A score of 10 or under can prove you need the $2,000-$3,000/month growth hormone shots. A low level like Mimi's shows that she really isn't creating much growth hormone at all, and the lack of GH she makes can have a significant impact on her entire body.

Is this just about being small? No, sadly no. And I love munchkins, gnomes...gnome houses. Small things, probably more than the average person. Her lack of GH is impacting her hair. teeth. throat. ear canals. her heart size. muscle size. organ size. energy level. etc.

So the question in the followup room was, How are her other pituitary hormones functioning?

Poor Mimi...She was sent right out the door of the office and across the street to the medical center lab for another blood draw. but this time just one. And yes, she screamed from the minute he said go, all the way to the car, in the car, across the street, out of the car, walking into the lab, during the blood draw, and then, stopped when she got her sticker. (here is the save the day sticker. she attached it to my bedroom wall. and I let her keep it there. LOL)

So now we wait to hear back on the labs and a sedated MRI scheduled for January to examine the structure of the pituitary.

For all the research I've done from week 20 of my pregnancy until last week, I still could not have prepared myself. I am sad she needs shots for the next 10 years, or maybe even every day for life. I love her and I don't want her to go through all this.

I know I did absolutely all I could to find out for her what was going on. I prided myself in realizing that few kids Mimi's age get this test done (maybe 12 a year in children that young per institution...usually it's later in their childhood, say ages 8-12.) I also knew what to ask at the followup. What about her other levels? What about her eating so much? Yes, her development is right on, but she does tire out and need food, a lot. And when is the MRI?

I am proud that I joined the MAGIC Foundation a year ago, drove 1500 miles to attend the conference. Met with amazing endocrine doctors in the USA and asked their opinion.

I just have to get used to the new normal, and brace myself for a shelf fridge of medical items and a needle dispenser. I want to make the best of all the appointments that are in our future, and make those days as comfortable and happy as possible.

It was MAGIC

 I really can't believe that we went to the MAGIC Convention in Chicago, and are home safe and sound. My beautiful little Mimi had an amazing consultation with Dr. Harbison, who announced to us immediately that Mimi is a Growth Hormone Deficient Baby! She wants Mimi to have her stim test right away. She also wants her to have an MRI to check her pituitary as well as cortisol and adrenal studies. (scary)
Mimi was so beautiful here as a little butterfly. I, on the other hand, was about to faint...this was half an hour after our consultation.

 I wandered around the convention hall seeing friends and faces I'd met on Facebook. Little children from photos coming to life, running in front of me, hugging their friends...eating watermelon, being silly.

 Mimi waited for Heloise in the hallway. She wanted to meet her online friend from Canada so badly. It was so sweet to see them first see each other. They brought with them 33 pairs of French shoes from Heloise to share with other tiny girls. (size 16-20). how cool...

 Suddenly we knew what we were dealing with, with Mimi. and in minutes, I have all the growth hormone reps in full view. I was able to ask questions and gather literature to bring home. I have a sack of GH medication pamphlets. Well they aren't pamphlets. they are like super glossy info packs. of course. but rather timely!

 I spent Friday in lectures learning about Growth Hormone deficiency, and Laron syndrome, cortisol dangers, puberty, and all sorts of other things. Mimi, Max, and Dad went to the Brookfield Zoo with a tour. We met up at 5pm in the room, and the kids got ready for the costume dinner. They were so excited.

 Here's some photos of the night. Mimi thought it was her birthday party. Max wanted the dancing to start right away. He got on the dance floor way too early.

Our friends...

Mimi and "my new best friend!"

Superman, and little ones.

and with a big one. LOL

My first on the floor dancers (well, running around-ers)

 We drove a total of 1500 miles. At one point we were half an hour from IOWA! I saw so many things I've never seen before. And finally, someone had an answer for me. After three long years.

 

 We drove home feeling empowered. Knowing what we need to do. 

Amazed. and feeling educated and supported.

I'm in OZ

Well I thought we might know the results today for Mimi and her Russell Silver Syndrome genetics test. Oh, if it's not this, it is probably a type of Growth Hormone Deficiency. This is what the munchkins had. They are proportionate dwarfs with pituitary dwarfisms, and did not have growth hormone injections. It would (will?) be suggested that Mimi have 4000 shots over the next decade if she has similar 

(and they are already "mentioning" it). In fact, it's the treatment for both Russell Silver and GHD as they call it.

When I thought the answer was coming about the RSS test today my heart was racing, I was pacing. Our genetics counselor said, "it still says pending, let me call the lab. if i don't call you back in 10 minutes, i don't know yet." She didn't call back. Maybe tomorrow or another day.

...

Rather fitting that the new Oz movie is out.

There is a lot to research over here at the French house. Does one stay au naturale little person size or pump it up with some GH? I am still figuring this out. but My little Ms. Einstein won't let me on the computer very much. I've started to print research articles and read them later. They are scattered next to my bed and then are slipped into my bedside bookshelf next to Elmo Visits the Doctor. 

All this cooking and playing I do all day, and Mimi is now telling me she wants "two" of this or that. geez, bossy!

Nevertheless it was a happy day.

There's no place like home.

with your little munchkin.

 xx