Hypotonia

Along with macrodactyly, Molly also has hypotonia, or low muscle tone.  Macrodactyly and hypotonia are completely unrelated as far as we understand.  When she was a newborn, she was pretty floppy.  I assumed that's how all babies felt.  By the time we had her two month check-up, she was barely lifting her face off of the ground while laying on her belly.  She would scream every time we tried to do "tummy time" and we attributed it to her being uncomfortable because of her reflux.  Her pediatrician recommended we get an evaluation done by Early Intervention to see if she would qualify for physical therapy.  She did, so we started out by having a physical therapist come out to our house once a week to work on gross motor skills (January 2014).  After 6 months of therapy, we decided Molly would also benefit from seeing an occupational therapist to work on her fine motor skills, which were also delayed.  At 11 months, Molly was referred to a neurologist.  She was diagnosed with Benign Congenital Hypotonia.  It was recommended that we increase physical therapy to twice a week.  At her 1 year checkup with her pediatrician, her doctor suggested that along with our at-home therapy sessions, we should look into doing outpatient therapy as well.  Molly started outpatient therapy at 13 months and had therapy sessions (PT, OT & speech) 4 times a week between at-home and outpatient.  Since her surgery, it is now at 8 times a week - which sometimes means 2 or 3 times a day!  It's a lot, but she has made SO much progress!  It's pretty unbelievable that she started off not being able to lift her head off of the ground!  Developmentally, she's still behind, but she's continuously made progress and we're so happy about that!  Here are pictures of her in her posterior walker, which she loves!

February 2015

September 2015

So now the question is, "What is causing Molly's muscles to be weak?"  To begin to answer this question, we again visited the neurologist.  Although she was pleased with Molly's consistent progress, she expected her to be farther along than she was.  She suggested a possible brain MRI, but wanted to refer to the genetic's doctor for his opinion.  After the visit with the geneticist (March 2015), he agreed with the brain MRI and also suggested genetic testing to narrow down the exact cause if possible.  While we were there, I brought up my concerns with anesthesia during surgery.  I had heard that with some neuromuscular diseases (not that Molly officially has one), complications can arise with anesthesia.  He had asked if it was possible to postpone surgery.  Kevin and I were hesitant as surgery had already been delayed over three months; however, if it was absolutely necessary, of course we would delay it.  Thankfully when he came back in the room, he said we should put a malignant hyperthermia precaution in place, just in case, and also made us get expedited appointments with a cardiologist and a neuromuscular doctor.  The cardiologist did an EKG and an Echocardiogram, both of which were normal.  The neuromuscular doctor observed Molly move, analyzed every little thing about her and did an ultrasound of the muscles in her arms, legs and back.  From my understanding, you see abnormalities in the thigh muscles more often if there is a neuromuscular disease.  Molly's thigh muscles looked normal, but her calf muscles showed mild abnormalities.  The doctor did not think a muscle biopsy (it would be done during surgery) was necessary at this time, but possibly during the next macrodactyly surgery.  

In May of 2015, we received the results of the initial genetic testing (Genome Wide Array) which looked at all of Molly's chromosomes.  Basically how it was explained to me was that if you were looking at a chapter book, you are looking for duplicate or missing chapters.  Everything came back negative which we were very relieved about!  She was also tested for Prader Willi Syndrome and that was also negative.  We were told we could just leave it at that or we had the option of pursuing further testing due to lack of answers.  Kevin and I agreed to move forward with the next level of testing, which is Whole Exome Sequencing.  This time, along with Molly, we had to give our blood samples (June 2015).  This testing is way more in depth than the previous testing.  Again, it was explained to me that instead of looking for "missing or duplicate chapters," they are looking for "misspelled words."  For example if it's supposed to be "xyzxyzxyz" and it says "xyzxyzzx."  Basically someone is looking at each of our 22,000 genes to determine if there is a genetic cause to anything going on with Molly.  So as of now, we still don't have any answers, but hopefully by the end of the year we will!