MDA clinic visit

Today was a long day ... but I think a potentially good one.  It’s full of medical stuff that I’ll try to summarize.  

The MDA doctor was very clear in expressing he felt Manny was a VERY complex case and that he was a bit in over his head.  He also offered to “steer” the proverbial ship of care but said I could fire him any time as he laughed.  I said, “Fire you?  You’re the first who has ever wanted to try to steer this ship!  You’re HIRED!  It’s been only me up until now.”  So that means he will help coordinate a few of his biggest issues.  That’s great!  

This same Doctor suggested he needed further genetic testing.  There are troubles with doing certain testing as insurance won’t pay for it but he knows 2 groups who might and he will contact them to see if they will take Manny.  One at the NIH in MD and the other in Iowa (not sure where).  Mostly they will need files and some blood but they MIGHT want to see him too at some point we will see, if they accept us at all.  

The Genetic Counselor did some research.  Remember how Manny’s birthparents are related? Well the counselor looked further and said that on Gene __ it would explain the initial diagnosis of LAMA 2 (Merosin Deficient Congenital Muscular Dystrophy).  But nothing else.  On Gene __ there were 4 things it could be but 3 were not his clinical picture at all.  The 4th was.  In fact, it’s not an exact match but it does affect liver and GI.  So it might just be!  The genetic test (mentioned in #2) would test for that.  If it is, it doesn’t really change much of his treatment plan but I’d no longer be accused of having munchausen’s syndrome by proxy! LOL 

The Physical Therapy people were a lot happier with Manny’s new wheelchair than his last.  (So no one tell them we still use the other one more.)  They are still pushing for therapies and such but that’s because they just can’t help themselves.  But this time, they were kind and respectful at least.  A few decent recommendations were made that I’ll consider. 

We got the results of the EMG.  Remember the nerve testing that was done?  And it was abnormal but not in the way they expected?  Well, he explained.  So let’s say we test a nerve from the knee to the ankle.  It should travel at a certain speed.  Let’s pretend it’s a car going 60 mph.  And with kids with LAMA2, it typically goes a bit slower, say 30 mph.  Manny’s did do that.  So check.  But in addition ... there was an unusual finding.  Nerves are really bundles of axons.  Imagine a cable.  It’s one cable but inside are dozens of wires.  So the “nerve” is like the outer cable and the axons are like the wires inside.  There should be like 250 axons in each nerve bundle.  Manny had very few.  He had about 50 in one and less in others.  So I asked the obvious question, “What things cause a reduced number of axons?” And he said he had no clue! It’s just that rare apparently.  

That leads me to my next thing.  September 6 Manny is going under sedation for dental procedures.  The dentist suggested a piggyback procedure if we had any we wanted done.  I mentioned this and the doctor suggested a nerve biopsy. So we will see if we can coordinate that.  It would potentially tell us more of what is going on.  And while it’s interesting to know about the nerves that control arm or leg movement, we’re most concerned if the nerves to his “autonomic” stuff is working properly.  Heart. Lungs. GI. Kidney.  If those nerve bundles have too few axons or they are being destroyed, it could be bad.  Hopefully the biopsy will be a wealth of information and maybe even help point towards therapy/treatment options.  

The last suggestion is that we start to work with their new GI motility specialist.  I’ll call tomorrow for an appointment.  Manny’s liver numbers are starting to be concerning as are the nosebleeds and several other symptoms he’s having.  If we can stop or slow down the liver damage, it’s worth a shot.  I’m not ready to have him drowning again by feeding him or make him a virtual guinea pig but I am willing to hear options.  

There’s more but if you’ve reached this point in the blog, your brain is probably mush already so I’ll stop.  As you can see, there are plenty of “praying points” outlined.  Wisdom, healing, direction, favor to name a few.  

Now about Manny ... There were sometimes 10-15 people in the room at the same time.  Manny handled himself like a champ.  He was funny and adorable just like you’d expect him to be.  Someone told him he was charming and he said, “Uh-huh”.  Like “Glad you finally figured that out!”  He’s a trooper.  He takes all this in stride.  

And if anyone is keeping track ... Manny has been out of the hospital for 2 1/2 months!  It’s a record for us.  I truly believe the bipap was a God-send.  His respiratory infections are down to none.  He’s not having the fevers.  He’s the most stable he’s been with respiratory since we adopted him.  We ALL breathe better at night.  

Thanks to all of you for being a part of our journey.  Much love.