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Special DNA Test for My Neuropathy Symptoms: HNPP

JoydancerJJoydancer Posts: 463
edited 06/11/2012 - 7:48 AM in Neck Pain: Cervical
Intesting things unfolding with my neuropathy assessment...

Had my appt. with special neurologist consult was on 11/23 with major univ. here in Florida.

Thought I'd share an interesting turn in evaluating and diagnosing the chronic neuropathy symptoms I've been having for past 9 months.

Initial assessment of neuropathy being caused by compression of nerve roots at C-6/7 and T-1 has not been rejected, but because of patterns I have with the neuropathic episodes and other co-existing conditions found during my evaluation, I am being tested for a neuropathy disorder that has been discovered and is linked to being hereditary (inherited) and passed along with a certain rare gene.

It's called HNPP = Hereditary Neuropathy Pressure Palsy and is diagnosed by special blood tests analyzed in a lab up in Maine.

The important factor with doing this test will be to rule out if my neuropathy on my left side in the past and now the chronic episodes of left arm/hand is caused by the spinal nerve compression (severe DDD of C-6/7 onto T-1 (Nerve root 6/7/8 may be involved)with narrowing showing) or is it a neuropathy disorder of which no surgery for the nerve compression believed to be occurring in my c-spine on 3 levels.

If I am found to have thmis disorder by the mutation of a specific gene then I would know up front the c-spine serious and complex anterior and posterior surgery being suggested to possibly reverse the neuropathy symptoms and progressive damage to my arm/hand/fingers.

The c-spine surgery has been evaluated to not give a good prognosis for reversing the nerve compression problems in my arm and hands. So if I have HNPP they would take off the table and only if spinal cord became further encroached.

I'll write more about HNPP and the markers for this disorder it involves my feet and upper torso neuropathy!

I'm having blood drawn tomorrow and sending the vials off a special lab that does DNA special blood testing in Maine. Nor sure how long it'll take to get results, requires follow-up with my neuro.

I'll just say there are more complex puzzle pieces now, but it may just get more conclusive and target what the verdict is with regard to my c-spine compression intervention surgery slated for past 6 months with low prognosis for resolving my neuropathy.

Janelle
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Comments

  • Janelle,

    Who is drawing the blood, your GP? I highly doubt this gene is in me, as no one in my family has or has had neuropathy. Like you, mine is in direct connection to the levels in my spine with issues revealed via MRI. You've peeked my interest for sure! Thanks for sharing. *HUGZ*

    Brenda
    PCTF C4 - T2, Laminectomies C5, C6 & C7. Severe Palsy left arm/hand.
  • Brenda, Re: Blood Draw

    I can go to any lab or my Primary Dr. so since the kit came today with Fed-Ex I'm going to call by PDa

    Re: DNA Link

    I initially thought that it would be improbable, but I have some markers in symptoms and other co-existing neuro symptoms and link of upper and lower body conditions for past 20 years and the following syndrome (conditions) woth HNPP they have just discovered and have blood testing to help in definitive neuropathic pathology: (all of which I have)

    - high arches in feet
    - hallux bone deformity on right foot (alternative link of left /right side of body upper and lower body
    - hammer toes syndrome right foot
    - episodes of chronic left-side neuropathy upper body (left arm/hand and fingers)
    -episodes of lower body episodic body neuropathy; (front of feet)
    - episodic and pattern of 6-8 weeks of chronic neuropathy and then short remission
    - nerve damage with muscle atrophy from progressive flare-ups upper and lower body

    Possible links in my family: HNPP arthritic conditions in upper and lower extremities in sister, mother, grandmother. Neuropathy problems in feet inconclusive in sister in feet; high arches, idiopathic (not clear diagnosis) treated as if she had plantar fascitis; mother pain and neuropathy symptoms; high arches in feet; (assumed to be arthritis ) also hallux syndrome of large toe and hammer toes, one foot; maternal grandmother upper body extremities arthritis, arms and hands, hallux syndrome of large toe both feet

    Another pathway being researched and discovered with the terrible conditions of neuropathy and arthris and I consider the testing worthwhile not
    their studies and research being done, but especially with my prognosis of neuropathy reversal if any interventional surgeries are done on me: c-spine and arm, elbow wrist surgeries.

    Janelle
  • Janelle,

    Wow! Lots of information there! Thanks so much for sharing. Lets see....

    No family history
    High arches - gone after years of gymnastics and the Army! Those boots were NOT feet friendly. (G)
    Peripheral Neuropathy chronic moderate both legs, severe right arm - idiopathic for the cause presently - but lines up with my affected levels of the spine!
    Nerve damage as well, but caused by a instant hernia C6/7 damaging the C7 exit nerve. Legs deemed permanent due to EMG responses - I thought EMG couldn't determine that - but they did compare the last NCV/EMG to my other 2 before it.
    Mine (neuropathy) stays fairly constant, no remissions yet! (G) Muscle atrophy due to motor nerve damage in my right arm, wrist and hand, and now showing in my right thigh.

    If those are the more common symptoms and issues, I don't think a DNA test will yield me any answers there. I have a feeling my Neurologist will be able to move me out of the "idiopathic" slot!

    Please let me know the results. You're like me in that the answers are so bloody slow in coming, and it drives us nuts! 8} *HUGZ*

    Brenda
    PCTF C4 - T2, Laminectomies C5, C6 & C7. Severe Palsy left arm/hand.
  • Brenda, it was an honor to meet this Neuro, in his 70's great background and quite astute in looking at a full view of neuropathic pathology and not the "cookie-cutter" diagnosis.

    Also he's fully aware of the complexity of the two surgical procedures I have been assessed for and he did not mince words about the surgical trauma that occurs, as well as the fact that it is a low threshold in having successful reversal of ongoing neuropathy conditions.

    Also failed to mention he did full neuro physiology test and I don't have consistent deficits on motor strength and have sporadic and fluctuating grip, good sensory, etc. that he felt was reason enough to consider other forms of neuropathic disorders and syndromes. When he saw my right foot hallux syndrome, high arch, hammer toes, fluctuating neuro symptoms for years that caught his attention, all physical manifestations of HNPP - - he knew we should certainly test me for it and his other colleague another neurologist he called in to validate his suspicions and amazement of the rarity of cases they get and patients manifesting the physiology and episodic neuro patterns.

    Hey, and it wouldn't be all bad at all to know my arm/hand/fingers are not being lost to the the DDD C-6/7 T-1 and permanently. If it is HNPP it's episodic and not highly destructive and permanent damage.

    By the way this Neuro had episodic neuropathy for 15 years brachial neuritis (shoulder scapular / arm/ hand nerve/muscle disabled) but it eventually overtime had episodes with less intensity and frequency, did not have the typical winging of scapular and his nerve/muscles restored with time as the duration and frequency changed over the years and he is in full function, no more episodes!

    That is why he was fully aware of these syndromes and knew it would be worthwhile to have me tested.

    Re: Your symptoms fitting into the syndrome disorder

    I believe one of the primary criterias for HNPP it has sequence of episodes with periods of no neuropathic symptoms and progressive disability between episodes.

    I believe they are still collecting much data and will fully leare more parameters of the disorder and may in the future will have some variances of cases of those that have the gene and have HNPP - - in all that I was able to read and as he explained this neuro palsy to me it is highly definitive of pattern of episodes and between episodes some restoration of nerves and musclne ability is restored.

    Miss Brenda, what about you doing a consult with this wonderful Neurologist regarding your progressive multiple extremity neuropathy?

    I found him quite a breath of fresh air and a good true "specialist" in the world of neuropathy and the syndromes/conditions it causes. He thinks out of the box and is not vested in meeting a previous assumption/opinion/diagnosis of neurosurgeons !

    Might shed some new light in your "idiopathic neuropathy" non-diagnosis :)

    Janelle
  • Want to correct the following more accurately:

    Hey, and it wouldn't be all bad at all to know my arm/hand/fingers are not being lost to the the DDD C-6/7 T-1 and permanently.

    If it is HNPP it's episodic and not highly destructive and permanent damage.

    should have said:

    HNPP is typically not highly destructive in most
    cases known and function of nerves and muscles are rarely permanently damaged and create severe disability.

    Even though there is no cure, they've identified the gene and stem-cell future change of DNA dynamics most likely this disorder could be on the list to be cured.

    Also it gives me possibly more chance (hope) that my prognosis if it was spinal nerve compression that has typical progression of nerve and muscle damage and being permanent (duration and severity of compression) in full course of pathology.

    So we're doing the HNPP test and cross that hopeful bridge ?!

    Janelle
  • Janelle,

    Wow, this doctor sounds very refreshing! Can you send me a PM with his name and contact number? I can then check to see if he is in my plan (I'm betting he would be). My favorite Neurologist that I happily now have back does similar. He is NOT afraid to think out of the box, and depending on what is going on, he seems to have a very good knowledge of "which" Neurosurgeon to send a patient to. :)

    My Neuropathy doesn't go up and down in it's behavior, just slowly getting worse. As it eases up, it doesn't come back down. While we were visiting Jacksonville, my hubby (yet again, giggle) got lost, and I got so bad I could feel my thighs spasming more than I think I've ever felt yet! I basically had to get really stern that he pulls over or otherwise take me to the ER! Believe it or not, just getting out of that seat, stretching my legs, and then back, and a bit of careful walking, I was back to my 'normal' once again. My hubby said he was sorry, didn't realize my 'hints' were increasing pain. My bad I guess, I do try to hide it.

    He also said my face was beet red by the time we pulled over! Ah, ya think!?! (G) I think with the confines of a car seat, coupled with the vibrations and movements makes the spasm come on a whole lot faster than a static chair of similar design at home! I would love even an hour of "no neuropathic symptoms!"

    While driving home from my doctor's appointment, I noticed that the top side of my right forearm is suffering visible atrophy now. While I regained the 'skin' feeling, press on it, no muscle feeling. Umm.. like internal numb? So that's getting worse. Hoping to get in with my Neuro soooon!! Based on what you've described with your guy, even if to help conclude the trouble shooting on my mess - that would be a huge plus for sure girlfriend!!! :)

    From what you're describing of him, he was a surgeon, and now using that talent and knowledge as a Neurologist due to his nerve and muscle issues? It is to me a great mix - many Neurologists are not, and never will be a surgeon! Your guy has both worlds to pull from!!! Thanks again Ms Janelle, you're awesome as always!! *HUGZ* :)

    Brenda
    PCTF C4 - T2, Laminectomies C5, C6 & C7. Severe Palsy left arm/hand.
  • Oh Brenda, I'm happy to forward info & link :) !!!

    Check your PM !

    Janelle
  • Thank ya ma'am, got it!! :) I didn't see Doctor "L" in there? Gonna start with my Neurologist down here (as he has been spot on for me so far), and then I will have my x-rays, CT's and MRI done (gonna focus on the neck again....I think first).

    Also remember MS is not off the table for me per the last EMG. I still think in my uneducated medical (not) mind, that my physical cervical issues are the problem and NOT lesions! Hence I am going to ask him for a brain scan too - *if* that is the best way to find these so called lesions!

    If he can't figure it out, then for sure, I will call and head up there. Thankfully I don't have to have a referral with my insurance. Thanks again my friend! *HUGZ* 8>

    Brenda
    PCTF C4 - T2, Laminectomies C5, C6 & C7. Severe Palsy left arm/hand.
  • Brenda,

    Re: Progressive Neuropathy

    Your covering all bases and doing a full assessment - - that's good! We are again "mirroring" each other!
    MRI's CT's and....

    Re: MRI Brain

    yes, brain scan for ruling out MS and yes, it is the the best for getting full assessment with lesions in the brain. (they caught my vascular ischemia in temporal and frontal lobes lesions and knew what was causing my balance
    problems for past 5 yrs! (you and I are a match there with the balance issues)

    Re: MS Testing

    Because of my idiopathic neuropathy ("polyneuropathy" for those 4 yrs I had MRI (no lesions) but because of extensive polyneuropathy and symptoms upper and lower extremities they did a spinal tap as well. You'll know if that is warranted.

    Re: Blood Test Today

    I'm heading to Quest diagnostics for the blood draw and sending the two vials in the lab kit box and sending FedEx this afternoon, understand it takes 10-14 days for results.

    Have a blessed day all, trusting all pathways and remembering the perfect stepping stones appear as I need them!

    Janelle
  • Oh Janelle, I am so very sorry that you are going through all of this!! It is bad enough to hurt but then not know why you are hurting just makes it worse!!

    I will keep you in my prayers!! And I will be checking to see what they find out from the blood work!
  • Polly,

    Thank you and (((hugs))) to you for your heart thoughts and prayers.

    Re: Puzzle Pieces on the Table

    You know I have had so much surrendering in this past 10 months since this neuropathy on left and my NS after MRI/CT scans assessed nerve compression and surgical intervention (2 approach) and bridge stabilization from c-spine severe DDD 6/7 into t-spine and requiring a piggyback hook-up from adjoining c-spine 3/4/5 bone implant fused.

    It began a journey of complex diagnosis with NS and Neuro specialist when my NS of 7 yrs assessed the complex 2 surgeries I needed for successful fusion and stabilization of remaining c-spine C-3 thru C-7 would not be successful or a good prognosis in reversing neuropathy problems in arm/hand and determined he would not do the surgery unless spinal cord compression (not happening now) and encouraged to get second opinion!

    Re: NS and Neuro assessment

    So it's been a slow process getting tests, new MRI and CT's, EMG/NCS, second assessment in progress with NS's and Neurologist.

    Had no idea it would pan out this way, but you know I believe it's all about trusting the journey and continuing to remember I am more than my body and it's limitations and trust all the pathways and blessings that are there each step of the way.

    Your prayers are very welcomed, there is so much unfolding into this body-mind-spirit and truly it sustains me to continue receiving the good snd ultimately the blessings that are in this.

    ((((hugs))) and blessings to you this day!

    Janelle
  • Janelle,

    I use the same diagnostic lab as you do. They moved over to the new professional building, and it is soooo smooth to get tinkle and blood work done now! :)

    Spinal taps bite. I've had 2 that I can recall - both for Meningitis (I was negative - whew!). As you know my twin, my neuropathy too is idiopathic presently. I talked with my niece who is a PT who specializes (in kids mainly) on spinal issues. She says that the "neuropathy" in many cases is a catch all. I.e., the doctor doesn't know, throws it into the neuropathy box or slot! Hurmf! I just know mine all connect to levels I have issues with - so still not understanding why not radiculopathy?

    The EMG says I have lesions, so yep, gonna ask for a brain scan. My NS sort of recoiled when he saw that on the report! Then he changed gears and told me to go back to neurology and find out about the cause(s) of my neuropathy! I felt dumped at that point. Sniff.... I am back like you on my quest for answers my spiney warrior twin!! *HUGZ* :)

    Brenda
    PCTF C4 - T2, Laminectomies C5, C6 & C7. Severe Palsy left arm/hand.
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