Hi, im new

New diagnosis and before diagnosis
#1

Hi all,

I have been reading the forum for abt a month now, but this is my 1st time posting.

I’ll just tell you a bit about myself … Im 47 and have had numerous health problems since my early 20’s, but have particually suffered the last 9 years with various ailments, which I won’t go into now coz I will definately send u all to sleep lol. But the main problems Ive actually been diagnosed with is IBS , when i was 22, ( made alot worse with the removal of my gallbladder in 2006, which has caused Bile Acid Malabsorbtion (sp?), fibromyalgia diagnosed early 2012 and im in a full surgical menopause, total hysterectomy Dec 2010.

I’m currently undiagnosed, Ive been having neuro probs since the summer 2011 starting with pins and needles/ tingling/numbness in my left foot which has spread to my calf,lower arm and hand and the same in the right side, this has been a gradual process, also suffering with a very stiff neck ( not much pain, but very clicky and crunchy) very stiff, sore hips. Also very dry and sore eyes and a dry mouth. Had bloods done my Gp came up slightly low in B12 and folic acid, had injections and tabs ,fine now. Been under a rheumatologist ( saw her April and July 2012) thought joint probs caused by menopause, confirmed very dry eyes ( put pieces of paper in eyes ouch that stung !! ) Had thorough examination by rheumy’s SHO 1st time i went, also bloods done, all fine.

When i went bk and saw rheumy in July my tingling/pins and needles/numbness far worse in left hand side. Keep dropping things, knocking things over, just cant hold things properly, much weaker in arm/hand, cant lift things that are heavy, some tripping/stumbling, also a bit shaky, my neck still very stiff. she recommended physio for neck ( which made my left side worse ) and a NCS. That came bk fine but lady doing test said go bk to GP get referred to a neuro, symptoms worrying. This took time coz moved house so had to move GP’s.

Saw neuro 7th November an awful experience, didnt listen at all, which sadly seems very common, also had brief examination. ( took longer to get boots off n on than exam lol.) Said dunno wots causing symptom, take some painkillers if u like, gonna refer for cervical MRI to tick a box… charmin !! Went bk to GP he sent me for 2nd opinion with a different neuro, he was slightly better , meaning he vaguely listened, he kept questioning me why been seen again so soon ( then u kinda know its’ pointless) Cervical MRI came bk no nerve entrapment just some wear n tear, he even patronised me abt my IBS grrr !! He said cant see reason for symptoms but i’ll refer u for head MRI, won’t find anything but might as well. (MRI on 29th Jan)

I also have worsening symptoms of overwhelming tiredness/exhaustion , stiffness in muscles, blurred vision ( went to optician in summer 2011 said i need very low magnification reading glasses (1)… got them a while ago, do help but if very tired things still blurred (ive tried stronger magnification but weirdly seem too strong) plus my general distance vision bad ,still have very dry, sore eyes which i have eye gel for ( was tested for sjogrens syndrome, came bk negative) Also get left sided headaches, and some pain in eye and face ( kinda like toothache)Plus a few times had that horrible possible HUG symptom, like hideous stitch, cant move, cant get breath, horrible. ( I meant to mention has been found im low in Vit D, was initially missed by Gp, taking tabs for a while now )

So so sorry for very long post, thanx for listening. I know there are many of u in ‘’ Limbo’’ and its helped so much reading all yr posts and yr experiences and knowing im not alone.

All the best

Jeanette

#2

Hi, so sorry meant to say my only child, a son Dean died in 1996 aged 13 months from a very rare neurological disease, they said it was a childhood form of Motor Neuron Disease, they tested both my ex hubby and I and told us its was a combo of both our genes that caused this ( autosomnal recessive) Now I realise that MS isnt genectic ( although i do know that occasionally ppl do have relatives that have it ) Also i do realise that there are many neurological diseases/ disorders and its sometimes a very long rd to diagnosis. They never found out what was wrong with Dean till after he died and had a post mortum ( Dean was 9 months when he went into hossy, 13 montsh when he died, and 5 month we waited for post mortum results.

Thanx again for listening you lovely people :slight_smile:

Kind regards

Jeanette

#3

oh jeanette

i’m so sorry about the loss of your son, dean.

poor baby was only lent to you for a very short time.

your health problems sound tough though.

sending you (((((hugs)))))

carole x

#4

Hi Jeanette, and a belated welcome :slight_smile:

I’m not a neuro, but I’m wondering if it’s been considered that you might be a symptomatic carrier of the gene that sadly resulted in your son’s MND? Most carriers don’t get symptoms, but some do - typically much milder versions of the condition, I believe. (Have you googled to see if your symptoms “fit” with the type of MND your son had?) A regular neuro wouldn’t be very well equipped to deal with this sort of thing, I don’t think, so you would probably need a referral to a neuromuscular specialist to have it properly investigated. Maybe worth asking about, depending on what the results are of the brain scan?

It’s possible to explain away most of your symptoms with dry eyes, vit D deficiency, wear and tear, IBS, etc, but the pragmatic stance should really be to check that there isn’t something underlying the whole lot. Unfortunately, that can take a while :frowning:

Good luck, and I hope it doesn’t take too long!

Karen x

#5

Hi Carole and Karen,

Thanx for your kind words and advice, very much appreciated.

Karen, In answer to yr question i have looked up the variations/types of MND in comparison to the kind that Dean had, they are definate similarities, as as u say it could be that i am suffering milder symptoms. Mnd I realise in some ppl can progress very fast, it did with Dean and because he had the paediatric version and he was the youngest child to have every been diagnosed at that time with this condition, the deteriation was extra fast. He had the most amazing care at St Georges Hospital in Tooting, SW london, ( he did spend a few days at Gt Ormond St, where his consultant is now) we got very close to all these lovely ppl. I was living in Hampshire at this time with my ex. Dean was partly diagnosed with an EMG taken a month apart, but had no name for the condition till after the post mortum results.Also the hardest thing was me and my ex had to turn Dean’s life support off because Dean had no quality of life ( had to get 3 drs permissions and go through solicitors to get this ) Also recently got some of Dean’s medical records makes interesting but obviously sad reading.

Its a good idea as u say to see a neuromuscular specialist instead of a normal neuro,might have alot more understanding of my symptoms. Ive got to go see my GP this week for a chat abt my meds etc, having a IBS flare and really need to be re-referred to see my lovely gastro, so will ask him then . The 2nd neuro i saw did say I should try Amitriptyline for my various pains and also I have such a prob sleeping ( got far worse since menopause started) Now i did try this a few yrs ago for depression but because I am highly sensitive to lotsa meds ( post gallbladder removal) I couldnt continue it, but I do have some IBS meds which has helped lots although i still have lotsa meds issues, Im willing to give Amitriptyline another go, i realise they take time to work and genreally have some side effects at the beginning. Also I must go back to see my optician as my eyes are awful at the mo.

I know there are many many others in this undiagnosed ‘’ Limbo’’ position, and I know its gonna be ongoing for some time dealing with both my neuro probs and other conditions, but we just have to keep going forward dont we even though sometimes its like battling against the tide. This is a great forum with some wonderful people giving such support and advice.

Thanx for yr advice Karen means so much

Take care

Jeanette

#6

Hi Jeanette

I have read your posts and my heart goes out to you. What you have been through must have been so difficult and now to have your health suffer too, I can’t imagine how you feell. I just want to wish you luck with finding a diagnosis and hope you get all the support you deserve.

Min x