New Doc on the block

We saw our new genetics/neurology doc.  The jury is still out on whether I like her or not.  I have come to this conclusion though, geneticists are strange folks.  Maybe it's because they are so smart, they lack some social skills, I'm not sure but it was a weird and disheartening visit in many ways.

It's really hard starting with a new doctor.  You run the risk of not meshing from a personality standpoint but you also take a risk in the fact that they may not agree with the foundation that has already been laid and may  not mix well with the team.

All I really wanted was to address the latest neurological problems with the kids but of course, we had to hash up the entire past which took no less than 4.5 hours!!  It's was a long day people, a long day!  She was nice but methodical in the way she spoke but not in an effective way.  She had to say the same thing in about 5 different ways before she could really communicate her thought process.   I noticed that her physical exam was different on each kid which made me think that she really missed out on some tell-tale problems like Shelbie's extremely sensitive reflexes.

I kind of laughed when she put gloves on to touch the kids' feet.  She said, "Sorry about the gloves but I can't stand feet and I don't like touching them."  I thought that was very strange for a doctor to say.  A doctor...interesting.

Anyways, I was doing okay with it all until the very last few minutes when she decided to tell me about her philosophy and what she thought about the kids. She doesn't believe in labels.  If there is no concrete diagnosis then the kids' chart lists nothing.  So, according to her, my kids don't have Shwachman Diamond Syndrome or Mitochondrial disease.

I questioned her and said, "Well, can we agree that my kids have bone marrow failure, mitochondrial and neurological problems?"
" They do but that doesn't mean they have mitochondrial disease or Shwachman Diamond Syndrome.  I think labeling people with a disease does them a dis-service because anything else that goes wrong, they try to fit it into the parameters of the label.  Not only that, it scares patients to tell them they have mitochondrial disease since most patients die and there is no treatment."

At this point, Shelbie starts crying and boys are about to jump out the 3rd floor window.  I had to come to some common ground before we left.  I can appreciate to some extent what she said but it's pretty hard being a chronically ill person and having no idea what is happening to you.  From my kids' standpoint, they would rather have a name for their problems than to be told they have nothing that has ever been described.   Welcome to the world of orphan diseases!  It's much easier to handle news, especially bad news when you have some context or framework to put it in.  Without a doubt, we are in the right sandbox with the mito and SDS diagnosis whether she wants to admit it or not and just because they haven't found the gene doesn't mean they don't have it.  It's so frustrating.

We finished the day with her saying, "Of course you are in a very uncomfortable place and without knowing what your children have we also don't know how to treat them or what the course of their life will be and that is hard no doubt.  I know I can find a diagnosis, you will just have to be patient."

At that point I just had to get out of there.  What I really wanted to say was, "Doc, we have been working with the top doctors in many fields, all trying to find the defective genes in my kids for 21 years!  What makes you think you are going to find the answer anytime soon?"  I'm not being patient and she has no idea how hard this is.  We left with no help for the current problems which is exactly what happened when we left the Neurologist last June.  They stare at the problems, scratch their head and say goodbye and tell me to just 'watch' them oh, and they take another 10-12 tubes of blood which I will probably never get results on or even know what they ultimately do with all that blood.

Seriously, at one point, she was checking Spencer's gag reflex after I told her it was gone.  She didn't think that was likely so she checked it.  She had her entire fist in his mouth and not one but two fingers down his throat...nothing.  Not a cough, not a gag, nothing.  Did she acknowledge that that was not normal?  Nope, she doesn't want to call it something and run the risk of scaring Spencer.  Well, too late, Spencer lives everyday wondering what is happening to him.

I'm just about done ranting...sometimes, I feel like I live in a parallel universe out in the middle of a twilight zone/black hole.  Is there no one who can help us?  Arghhhh

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