Dr Appt Report - For Those Following My Saga

[Madalot]

I had my check up with my regular neurologist yesterday. I'll call him "Dr. J" -- and he is my neuromuscular specialist, trying to figure out exactly what genetic defect/disease is at play here, ruining my life. He is also the one that my Pulmo asked to help with the leg movements and spent a couple months messing with RLS meds. It was HIS office that recommended a referral to a SLEEP neurologist, Dr. H.

When Dr. J came in yesterday, I was laying down, almost asleep. He said I looked REALLY tired and asked me if I was all set to see Dr. H. I went off (not AT him, to TO him). When I said that his Fellow had "forgotten" to make the referral before his departure -- OMG -- he looked very, very upset. I explained that they had recommended this mid June and it was now September with no appointment or even consult with Dr. H. Dr. J is one of the nicest people I've ever met, so he stayed calm, but you could tell he was very angry. He left the room and apparently told a colleague that another one of his patients had been the "victim" of the bureaucratic nonsense and had not gotten what they needed.

By the time I left yesterday, Dr. J had spoken to Dr. H and gotten Dr. H to commit that he WOULD see me and was working on expediting getting me an appointment. Dr. J said there is no doubt that something is really messing up my sleep.

Whatever disease/genetic defect is causing my problems is NOT obvious, but something occurred to Dr. J and he asked if there was any way we could stay and have some testing done. We hadn't planned on it, but they could do the tests yesterday so we changed our plans and stayed. Dr. J ordered an EXTENSIVE (and pretty painful) nerve conduction study, then a tedious muscle EMG -- which he performed himself, much to my surprise. I was being shocked and poked from 1:00 - 5:00. They would do parts of the tests, then leave me alone just long enough to ALMOST doze off, then come back and torture me a bit more. It was a horribly long and painful afternoon.

The tests were NOT conclusive (none of mine really are) and even though some of the tests I've had contradict it, he thinks it is possible that I have some type of myasthenic syndrome going on and has prescribed a new medication. According to him, IF the nerve tests are right and there is some myasthenic syndrome, this medication will help with the weakness AND excessive fatigue. He said he has a patient with a confirmed mitochondrial myopathy (something he also thinks I have but hasn't been able to prove it yet) and she takes this medication too and has had improvement.

He also thinks my sleep is being messed up in some way and feels that Dr. H's involvement will help figure that portion out and hopefully help on that end as well.

I can't get my medication until Monday (the pharmacy has it, but MY insurance is insisting on a specific manufacturer so they have to order it for me). I'll start that on Monday.

Dr. J believes that the horrendous pain I'm having in my left leg is NERVE related. I already take gabapentin and he has increased that dosage, hoping it will help alleviate that pain since it is also disrupting my sleep.

It was a very LONG, but productive day, with Dr. J taking a lot of time with me and really thinking & working on trying to help me feel better. At 5pm (after being there since 7:30) he gave me my marching orders and the last thing he said to me was "Call me in 2 weeks and let me know how you're feeling and what is going on with Dr. H. Now, you look exhausted. You need to get some sleep."

[sleepycarol]

I am glad it was productive, or at least appears so at this time. Hopefully Dr. H will get on the ball and it won't be long before you will feel better.

[JohnBFisher]

This sounds promising. Here's hoping ... and some prayers to boot ... that you will find some relief! Hang in there, Madalot! We're excited you have some movement forward. Now ... may you find some ways to get better rest and many happy dreams!

[cflame1]

it sounds like, although it was painful, it was a very productive day.

All the best to you Maddy

[msradar65]

Sorry you had to endure the EMG test! those are NOT fun!! But I am glad to hear progress. Sounds like Dr J is definitely a keeper.

[snuginarug]

Oh I am so relieved to hear SOMEONE is taking time and effort and cares about your quality of life and might-- MIGHT--- have some remedies that WORK. I suppose cautious optimism is in order. Perhaps you will get what we have all been hoping and praying for... some relief. Good luck! My fingers will be crossed for you.

[BlackSpinner]

Well Done Maddy!
This doctor really seems to be a keeper. You are no longer a "case" to him but a human and a challenge.

[redjoe]

It sounds like there may finally be some progress. I'm really pleased for you.

[HoseCrusher]

Progress is much more interesting to read about...

I sure hope they are able to figure something out. In the meantime I hope you can embrace the hope of continuing progress and have a restful weekend.

[JDS74]

Maddy:

So glad to hear the you are making progress. With difficult to diagnose cases, it sometimes gets discouraging both for the patient and the doctor.

I hope that you follow-up each two days with Dr. H's office to see when the appointment is scheduled. Sometimes the office staff needs to be prodded just a little to get the job done. The comment from Dr. J to call him in two weeks is a hint to tell him if you have an appoitment yet. Sounds like he is going to be on Dr. H's case until something is done.

If there are still scheduling delays, it might be useful to ask Dr. J if he has someone else he could refer you too.

Best wishes.

[howkim]

Progress! At last!!

[rosacer]

WOW Maddy that's good, things are moving. Hope you will get your appointment soon and Dr J will find the good meds and all what it needs to be done for your wellness.

[DoriC]

An exhausting day for you but it seems you got the ball rolling at last. Don't forget to check with Dr H's office on Monday to make sure his staff got word from him to set up an appt for you. You know how that goes! I know that gabapentin can cause lethargy and tiredness although it does control pain so could that be another fly in the ointment? I'm really hoping you'll have some real improvement soon. Blessings.

[EO_123]

I'm glad that you now have your doctor's attention. Your situation sounds eerily familiar to me. I don't know much of your history, but are you familiar with the symptoms of mitochondrial myopathy? My husband has this, but with an unconfirmed diagnosis. It impacts people in a variety of ways and degrees of severity and is very very painful and difficult to diagnose. He also is tired all the time (but I'm signing him up for a sleep study!)

[chunkyfrog]

I am SO hopeful for you, Maddy.
I will say a prayer for you.