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nosoupforyou

32, strong family history, low ceurlo, low copper, lots of symptoms

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Posted this in the Ask the Doctor forum, but just curious if anyone else has had similar experience...

Hi everyone. I've sort of been on the neurologist carousel lately so I thought this would be a good place to ask questions, especially since I have about a month between now and my next neuro visit. I'll keep this as brief as possible. I know this forum is no substitute for actual exams, but in the in-between time it would be nice to have another opinion.

I'm concerned about the possibility of young-onset PD. I am 32 years old, male, and have a strong family history of PD (maternal grandmother, her brother, her father).

Early 2016: Slight finger "twitch" tremor in right hand (index finger), light internal tremors, shoulder/neck achiness and stiffness, leg stiffness and slight shuffle from right leg
Early 2016: MRI negative
2016-Early 2017: Issues with finger coordination/tremor on right side, neck and shoulder aches and stiffness, stiffness spreading to rest of right side (arm flexibility esp), gait is not noticeably worse, no weakness, loss of right arm swing noticeable
Early 2017: Some urinary hesitancy issues, small kidney stones found, night sweats and acting out dreams begins
Spring-Summer 2017: Stiffness (slightly painful) and shuffle worsens, very tight muscles in shoulders (hard as a brick!), tremor worsens in hand, tremor slowly spreads to leg, loss of right arm swing definitely noticeable, slowness of movement in fingers begins; dystonia in foot (toes completely folded down on right foot, mostly morning or after physical activity); cogwheeling in leg/arm
Fall 2017: Blood tests completed, negative for Wilson's Disease, Lupus, Lyme, etc.; Very Low Ceruloplasmin levels (9 on first draw, 11 on second), low serum and urine copper (just under normal range in urine copper), low Vitamin D; No gastrointestinal cause of low ceruloplasmin/copper (saw gastro for this)
Fall 2017: Negative DatScan but very responsive to Mirapex (too many side effects)
Winter 2017: Negative MRI, very responsive to Requip (no side effects so far)


Current issues
-Low Ceruloplasmin, no gastro/malabsorb. cause
-Low Serum and Urine Copper, no gastro/mal. cause (taking 2 mg copper per day for past two months, haven't had levels measured since Sept)
-Internal tremors more prevalent
-tremor in right hand more prevalent, spreading to left
-leg tremor more noticeable
-dystonia in toes more painful and noticeable
-BAD stiffness, especially in right leg, arm, back, shoulders, neck, face/jaw (can lock up if eating something too large)
-some muscle spasms
-slowness of movement in right hand/fingers
-trouble with buttoning/door locks/intricate movements
-almost no arm swing on right side, full arm swing on left
-drooling out of sides of mouth, some swallowing issues, some speaking issues at times (word searching every so often, but memory ok)
-no weakness
-some issues with smell/taste (barely any difference between sweet and sour, etc)
-negative DatScan in Sept, but very responsive to Requip (within an hour or so of taking it, tremors/stiffness majorly improve)


So confused. Neuro is thinking of sending me back to a MDS. Any ideas on what the heck is going on? Especially with low cerulo and copper but no gastro malabsorb. issues?

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Certainly sounds like PD or a PD syndrome. I'm not a doctor, though.  Pretty much spot on with how mine started. I was diagnosed at 27 and currently 32 BTW... Family history as well. 

Surprised they haven't done a Sinemet challenge, yet.  It's how I was diagnosed. DAT scan can be used to confirm, but isn't 100% (debatable, but it was what my MDS told me). 


If it were me, I would ask for a Sinemet challenge.  If the Neurologist doesn't know what it is or declines it, find another Neurologist. From my experience, sinemet is much more effective than Requip. 

 

 

 

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9 hours ago, afroney said:

Certainly sounds like PD or a PD syndrome. I'm not a doctor, though.  Pretty much spot on with how mine started. I was diagnosed at 27 and currently 32 BTW... Family history as well. 

Surprised they haven't done a Sinemet challenge, yet.  It's how I was diagnosed. DAT scan can be used to confirm, but isn't 100% (debatable, but it was what my MDS told me). 


If it were me, I would ask for a Sinemet challenge.  If the Neurologist doesn't know what it is or declines it, find another Neurologist. From my experience, sinemet is much more effective than Requip. 

 

 

 

You know, that's exactly what I told this latest doctor. I said "I think we need to try Sinemet and just prove once and for all what this is." And he goes on about how Requip is better for younger patients, no dyskinesias, etc. I totally understand, but I really thought the Sinemet challenge would be the best idea to just get the confirmation one way or another. Even if I'm not on it after the challenge is over, just do it and let's put this thing to rest and let me go on about my life instead of playing neuro-hot potato, ya know? He is a general neuro and talking about referring me to an MDS, which is what I need in the first place. I had an MDS, then moved 2 hours away, so he basically said he was done with me and sent me on to the local general neuro. I see him again on Jan 4--definitely think it's time for an MDS again and a Sinemet challenge, just for clarity's sake.

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Also 32 right now, have diagnosis since 30.

Don't know what can be going on.

Just wanted to say, don't be scared.

E

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On 2017-12-20 at 7:21 PM, nosoupforyou said:

You know, that's exactly what I told this latest doctor. I said "I think we need to try Sinemet and just prove once and for all what this is." And he goes on about how Requip is better for younger patients, no dyskinesias, etc. I totally understand, but I really thought the Sinemet challenge would be the best idea to just get the confirmation one way or another. Even if I'm not on it after the challenge is over, just do it and let's put this thing to rest and let me go on about my life instead of playing neuro-hot potato, ya know? He is a general neuro and talking about referring me to an MDS, which is what I need in the first place. I had an MDS, then moved 2 hours away, so he basically said he was done with me and sent me on to the local general neuro. I see him again on Jan 4--definitely think it's time for an MDS again and a Sinemet challenge, just for clarity's sake.

Did you have an appointment on Jan 4? How did it go?

All the best to you!

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On 1/13/2018 at 2:08 PM, Roses said:

Did you have an appointment on Jan 4? How did it go?

All the best to you!

It actually ended up being a 5 minute meeting--I talked, he looked at his watch while I talked, checked my gait while I was on Requip (2 hours after dose) and basically did a "ok, well I'll see you again in 2 months". That was it, no further questions. The looking at the watch and not listening to me really upset me.  So, I took matters into my own hands and I'll be seeing a MDS at UAMS in Little Rock on Feb 23. I am usually the most agreeable person you'll ever meet, but my line is crossed when you sigh and look at your watch when I explain what's going on. That was enough for me.

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