A Great Day at the Craniofacial Surgeon

Today my youngest son saw his craniofacial surgeon.  We have great news; he may not need treatment after all, neither surgery nor orthodontia.  I was so worried that we would have to do surgery soon, before we had more information or a diagnosis from the neuromuscular specialist.  Now we don't have to worry about those complications at all.  We don't have to worry about the risks of surgery for his unspecified condition.  I also have the support from this doctor for when we do have a diagnosis for being either aggressive or not, as appropriate to the family and the condition.  The best part is that we don't have to go back for three years, and effectively remove him from the active team.

I began the day with some anxiety as to what this assessment might mean.  I'd been concerned that following him over six months instead of a year would mean that the progression is quickly moving toward serious complications.  Instead, I'm able to end the day with a smile and time for my work.

As we move away from this medical model, it feels wonderful to do so because one of the doctors doesn't believe he's necessary right now - from a medical point of view.  He's not responding to my stress and anxiety.  It's appropriate to the child's plan of care.  He doesn't need surgery.  For that, any mother would be happy.

The First Few Days After Meeting the Neuromuscular Specialist

After I left the neuromuscular specialist, I had so many questions.  I was overwhelmed.  Since I believed that I could not ask these questions of the new doctor, I turned to the primary care physician.  His office listened to my question with due consideration, and gave an insightful answer.  He disagreed with her assessment of how the boys are doing, and trusts whatever decision I may make.  Then, I had more questions, and spent the next few days asking them of the others.  I didn't set up loaded questions.  Instead, I presented it as, "The appointment didn't go as we expected.  I didn't get to ask questions.  Here's my question for you."  Even though I asked different questions of each professional, I received the same responses from all of them.  None of them agreed with the neuromuscular specialist; all of them agreed with each other independent of each other.  My most serious concern with her was that she was not taking into account each boy's other - and primary - diagnosis.  She was considering their condition as if whichever muscular disorder they have is their primary diagnosis, and the cause of all their symptoms.  This cannot be true, and all of the other professionals agree.

I spent the first week in despair, crying off and on, convinced that my children would not grow up.  Now I know that is a possibility which we cannot rule out now.  After the fourth professional disagreeing with her, and a week to emotionally process the situation, I came to a place of acceptance - not denial nor defiance.  My children's condition is whatever it is.  It cannot be changed or cured.  Whichever disorder it is, it is serious.  However, no one will be able to tell us what it means to have these particular combinations.  No one will have seen this before.  The only one who can be confident in this scenario is me, because I am their mother and I love them.  They are not my patients.  They are my children.  It's time to shift from a medical focus, to a family focus in our plan of care.  It's time to prioritize our quality of life, over maximizing their future potential.  It's time to scale back from over twenty professionals giving their input and scheduling our appointments.  It won't be wrong to do so.  No matter if their time is short, or if their lives will be long, the children will not be short changed from living a family life in childhood.  Most children do, and my children deserve that more than others.  While a medical model is great for kids who are going to grow up, and only be independent if their families make that adjustment in childhood.  Since no one can tell us what our future holds, we need to make the decisions that will keep us together, happy and being ourselves.  Our children will do well and lead independent lives on their own terms, or they will live out whatever time they have in a loving home.

The First Visit at the Neuromuscular Specialist

Despite my plan to be open, I realize that I need to be a bit guarded.  My children are the only ones with their particular combination of diagnoses.  It would be all too easy to identify us, if someone were looking for our information online.  That noted, I shall begin.

The first visit to the doctor did not go as planned.  I had expected that a muscle biopsy would be ordered, and hoped that it might be within a week or so.  The neurologist had told me that's what to expect.  Instead, they did not order the biopsy.  She told us to see another doctor to get clearance for the biopsy and come back in three months.  If they don't give us clearance, then they won't have the biopsy.  She also told us that I cannot choose the surgeon or the facility where we have this done.

We don't have a diagnosis and may never have a diagnosis.  Without a diagnosis, she can't give us a prognosis.  If we never have one, then they look at the clinical presentation of symptoms, including the severity and the onset, to suggest survivability.  When she was examining my children, she was not accounting for their other diagnoses and how that might affect their score.  I did not have an opportunity to ask questions, and we were there for three hours.  I did not have the opportunity to volunteer information that I think may have been vital.  Instead, it was her asking all the question in a third-degree fashion.  This was unlike all other specialists we've seen, and there are 21 others.  I was surprised that it wasn't about establishing a relationship.  It felt as if we were there to serve their purposes, as if they were research subjects and not patients.  I felt like it was -such a hassle and a burden on them administratively - to have two patients who doubled their charting.  I felt no sympathy whatsoever to the fact that I have two children with different serious, disabling diagnoses who now are adding in a second, serious and potentially fatal, diagnosis.

The biopsy may give us a diagnosis, but it may not.  If not, then we might undergo genetic testing - we, meaning all of us.  There is no indication of which tests, especially since we've already done comprehensive testing at the geneticist.  Those tests did not find anything for one child, but did find my youngest son's primary diagnosis.  Therefore, we could go through months or years of testing without a conclusion.

That's enough for this post.  The subsequent days were an emotion turmoil.  I could not post during this time.  I needed to process emotionally the experience.  Plus, I had important questions that I had to ask of other physicians.  After a week, I was able to come to a place of calm acceptance.  I'll post more on how I got there.  The situation is good, now even though the diagnostic situation has changed.  The other physicians on the team are involved with their own opinions, and I'll post more on that.  It's been a two week journey, that I'm compelled to share.