My Neuromuscular Specialist Appointment

At long last, I met my own neuromuscular specialist.  The appointment was everything I needed it to be.  I received the validation that I've required for years.  Myopathy is not in my head; I am symptomatic.  However, I have been doing everything right.  I have managed my own condition exactly as she would have recommended.  Therefore, I'm doing far better than my clinical exam would suggest.  I'm functioning highly for my level of affection.

Walking through the door of the ALS/MDA clinic for the first time is a surreal experience.  No one could miss the drawing of Lou Gehrig at the front door.  That clinic isn't any ordinary clinic.  It's not just another specialty.  Most patients there are facing a far different prognosis that I am.  I consider myself so very lucky.  Indeed, every patient there is so very lucky.  How could it be any other way?

A New Year, With Knowledge

This will be the first year that I have understanding about my body.  I have always had questions, but would sometimes blame myself.  I never had compassion for what I've experienced.  Instead of believing that if I just worked out hard enough that I could be average, I now have gratitude for how much I have done.  Four years ago on New Year's Day, I went running at 18 weeks pregnant.  With the knowledge I have now, I know how much I have surpassed expectations.  I won't enter this year with ignorance about what I can do with and for my body.  I enter it with a deeper happiness and acceptance for my body than I've ever had.

Congenital Myopathy

I learned today that I have congenital myopathy.  I have told a few friends, and a few family members.  I passed this on to two of my children.  My husband also has a genetic disease, on the same gene, that he passed to our children.  They have two unrelated conditions; the shared, combined condition from their parents, and an unaffected sibling.

I begin this journey myself with adult neuromuscular specialists as a new patient.  I'll be joining the MDA.  I'll be beginning a new phase in my life: the phase of knowing what has always been different about my body.

A Visit To The ER With a Neuromuscular Patient

Visiting the ER with any child is stressful.  Visiting the ER with a neuromuscular patient is unnerving.  I drove past three hospitals to get to one that could cope with my son.  I knew that most hospitals could not manage his care.  However, I also took the bold move to drive past two specialty pediatric hospitals.  Before, when we had only a trisomy diagnosis, I would not have made that call.  I am rather fond of one of the ones I drove past about half way into my drive.  This was my son's first lung related event, and I didn't want to take chances.  If he needed admission, then the pulmonologist who specializes in the neuromuscular children is only at one hospital.  Even if we didn't, sitting in the ER would induce anxiety in me.  Could they manage him?  Did they even understand the risks of their routine treatment in neuromuscular patients?  It isn't the disease itself that is so scary.  It is the unusual reactions to routine ER procedures for neuromuscular patients.  Things they do all day and are comfortable with are the very things we have to avoid.  Those rare once-in-a-career reactions that a particular nurse or doctor might see are the very things we expect any time we go.

I didn't have to explain to the ER doctor who our specialists were.  He called the supervising doctor over to assist.  One nurse, however, didn't immediately recognize the names of the specialists.  She mistakenly thought I was referring to the pediatrician.  Perhaps she thought my son saw the pulmonologist as an asthma patient (we were in the asthma treatment room.)  I paused to consider how easy a slip up can be - just one wrong step can result in catastrophe.

Fortunately, Melchior is going to be fine.  We made the right call with his cough and breathing complications.  He received the medicine he needed, and didn't get one contraindicated.  We now have experience for the next time, when it may not be quite so smooth or easy.

Results

The boys' specialist called me with the muscle biopsy results.  We don't have conclusive answers as to which myopathy the family has.  We know that it's not any dystrophy.  We know that it's not nemaline myopathy.  Beyond that, we have more testing to do.  Muscle changes were present to conclude a myopathy, but not distinct enough to know which one from the biopsy alone.  We may know later.

I'm much happier with the doctor after these last few months.  We had a rough first meeting.  It happens.  I've had time to do my own research, which I usually avoid.  The first rule of being a special needs parent: Don't Google It.  The second rule?  Never Read A Blog.  I feel free to laugh at my second rule now.  This blog is absolutely not informational for any specific condition.  It's about having a place for my own emotions and thoughts, so that I don't bring them into an office visit.  I break my own rules, and it's ok.  I have information that I'd rather have straight from the doctor's mouth.  That's ok, too.  We get what we need.  We do the best we can.

We will do blood tests to further the search for which specific disease this is.  We'll know one day, and we'll go forward.  We're on an amazing journey.  It's not going to be all spelled out and smooth sailing.  As a consequence, we won't be phased by other challenges in life.  That which dismays another family won't even make us blink.  We have our own song to sing.

Aged Meat

We have to wait a month for the results of the muscle biopsy.  At first, I brushed it off to the thought of so many diseases to consider.  I then deliberated that there must be such a limited number of specialists trained in the pathology of muscle diseases.  They have a backlog of patients, and no way of every getting more than a month behind in work.

And then I remembered.

Aging meat takes three to four weeks for the enzymatic processes.  There are structural changes in the muscle fibers after a month.  Previously, I only knew about this from hunters and high-end steak houses.  A small portion of my own child's leg muscle currently ages.  While this realization doesn't negate the first two thoughts I had, it does creep me out.  Not that I am squeamish - oh, no.  It's my child, not a deer or a side of beef.  Part of his muscle needed to change in this way to show the pathologist the damage or the abnormality.  I am unnerved for the seriousness of the test.  A needle biopsy would have been easier, if less appropriate for the conditions we suspect.  Not only would it have been easier physically on him, but easier on us mentally.

We will know soon enough the results of the muscle biopsy.  It is only one short month.  But, forever more I'll know that a small piece of his leg muscle was aged.  I may never eat at a high-end steak house again, even if I could one day afford it.  It would only remind me of this waiting time.

Getting Measured For A Custom Wheelchair

After a week of a loaner wheelchair, Balthazar was measured for a custom wheelchair.  We drove an hour to the orthopedic hospital for his appointment.  I had to arrange pick-up from preschool for Caspar, so we could make the appointment time.  Balthazar didn't quite understand that the chair he's had isn't permanent.  He's happy to wheel around and do tricks.  Once he gets the permanent chair, there will be no stopping him.  The current chair is slightly too big, and not quite meeting his needs.  The new chair will be his for five years.  It will adjust as he grows.  It will be his favorite color.  I still can't believe that it was this easy to get a wheelchair for him. After so long of knowing that a part-time wheelchair was for him, to finally make it happen was almost too good to be true.

We had the fitting, and measuring and an hour of questions about what his needs are.  We described our one story home, the car, the stoop at the front door, the lack of ramp, but application for one, etc.  We looked at wheel sizes and colors and clothing guards and backs and padded seats and push handles.  Now we wait for the developmental pediatrician to sign off on the application.  Then it goes to insurance for them to approve the payment of it.  Then the manufacturer makes it.  It goes back to the orthopedic hospital for the final fitting.  In four months, he should have his chair.  Thank heavens that it is this easy and seamless for us.