Connect
I need help! Just at a loss and confused. I'm a mystery!
Hello 19 M 254 LBS 6'1
I am going to add a list of symptoms that I plugged into chat gpt (its an easy way for me to keep up with them). Please see below. I have no idea what else to do. My doctor it just seems like he won't listen.
Current Symptom Summary
- Progressive difficulty with walking and balance over several years.
- Legs often feel weak, heavy, tight, or like "jello."
- Trouble climbing stairs; legs fatigue easily.
- Difficulty standing up from the floor without using hands.
- Trouble with heel-to-toe walking; balance problems while walking and in the shower.
- Severe heat intolerance. Hot weather causes worsening dizziness, weakness, fatigue, blurry/jumping vision, and unsteady walking.
- Dizziness for approximately 8 years, sometimes with palpitations, shortness of breath, lightheadedness, and fatigue.
- Vision disturbances including occasional double vision and a sensation that vision is bouncing or jumping, especially in heat.
- Lower back tightness and pain, especially when standing still for prolonged periods.
- Muscle weakness and reduced endurance in arms and legs; difficulty lifting heavy objects such as a case of water.
- Muscle soreness, particularly in the upper arms and shoulders, worse on the right side.
- Intermittent numbness, tingling, and pins-and-needles sensations in the legs and feet.
- Brief electric shock/buzzing sensations through the body.
- Occasional facial symptoms affecting the right side of the face.
- Daily brief neck jerks or sudden involuntary movements.
- Episodes of body numbness or sudden "jolting awake" sensations when trying to fall asleep.
- Finger, hand, and forearm pain at times.
- Excessive sweating, even in air-conditioned environments.
- Symptoms appear to be gradually worsening rather than improving.
Relevant History
- Osteopenia/osteoporosis since childhood.
- Low vitamin D history.
- History of low testosterone levels.
- Cushing's testing reportedly normal.
- Muscular dystrophy testing reportedly negative during childhood.
Thank you all for checking this out! Send some tips, ideas, etc. My way! Thanks!!
Like
Helpful
HugInterested in more discussions like this? Go to the Brain & Nervous System Support Group.
Connect
@cheyne such a beautiful written response. My neurologist says I have Huntingtons disease and normally you have 5 to 10 yrs. I asked is that form onset of symptoms or diagnosis. He didn’t laugh 🤷🏼♂️ I managed funeral home and crematories for over 30+ yrs then was a donation coordinator for a tissue bank. I know what’s coming for our shell… I have been an embalmer for over 40 yrs. When you’re gone you’re gone. I understand the progression of my disease and hate but know it is what it is and it’s no one’s fault and like you said we all die from something at least I know mine and it’s not going to be a surprise… I’m actually really ok with that❤️I have a lot more pain then I’d like and that’s my journey… I hope your journey takes you to a beautiful place 😘
-
Like -
Helpful -
Hug
1 Reaction@mister1
Hi,
I wish I could die at times but this stupid brain I have won't let me give in, so I take the alternate approach and fight for every minute I can get. I have stopped breathing 3 times in the last 4 days and each time the brain realises it is killing itself while trying to protect the brain and kicks the respiratory system back into life. How many more times can I escape my fate, I don't know.
I just received word this morning I'm to be assessed for the long-awaited J tube insertion. It won't cure the myelin problem, but it will give me more time by working around the digestive problems that are causing the major issues and give me the vital nutrients I'm not getting presently.
Fingers crossed.
Cheers
-
Like -
Helpful -
Hug
2 Reactions@cheyne
Well let's keep fingers crossed!
Good luck!!
@chrisfd here is the list of blood tests that I would request to have ordered from your doctor. Many doctors will not test for more than the transglutaminase tests but the others are also very important. An "off" level of the right combination of any of these tests can warrant an endoscopy to check for villi blunting in the small intestine... I had to push to have my son checked for all of these after my daughter and I were diagnosed (by a GI specialist). (This disease runs in families).
Celiac Serology:
1. IgA antibody
2. Antigliadin Antibody IgG
3. Antigliadin Antibody IgA
4. Tissue Transglutaminase Antibody
5. Immunoglobulin A level
When it comes to Celiac, I am finding that most doctors really are unaware of most non-classic presentations (GI issues), and many will be hesitant to test. Celiac can be experienced as completely symptomless (silent Celiac- but doing damage to the small intestine none-the-less) or as I mentioned before as the possibility of over 200 symptoms. (Note: I have yet to be able to have a conversation with anyone who is aware of "glutamate", though I will soon be seeing a neurologist who specializes in Parkinsons, who I believe will know what I am talking about!) If you find that you have a doctor who will not listen, go for a second opinion or change doctors all together. Do not be afraid to advocate for yourself when you know that something feels "off"!
Also, have you been in touch with a neurologist and/or rheumatologist? If it has been a while and your symptoms are progressing, it seems that requesting an appointment with both types of specialists may be a good idea, too. More information of things to rule out or symptoms to hone into and watch is helpful.
Another tid bit to maybe think on... In my research, I found that people who suffer from all neurodegenerative disease, including Parkinsons, MS, etc, also have an increased level of glutamate in the brain, causing over firing and excitotoxicity. Coming from my experience where a change in my diet has literally changed my life, maybe starting a food journal that documents the foods you eat and your experience of symptoms to see if you find any patterns? Just a thought. I am a firm believer that the foods we eat have a direct impact on our body's ability to function, and can help slow down progression of a disease and ease symptoms. This is certainly challenging for me at times... But I have my life back after making such changes, and I am grateful!
I know that being in the place of waiting and wondering are so challenging; I am so sorry for all you are going through. Please know that you are not alone in this and that I am praying for you!
-
Like -
Helpful -
Hug
2 Reactions@cmmichaela
Thank you! I appreciate it. I have not had any of that bloodwork. I actually got my medical records from where I saw a pediatric neurologist, when I was eight years old. In those records, he sent back to my pediatrician that I needed to be tested for an inflammatory/autoimmune condition. Guess what she never followed back up with my parents on that. So I opened up a good book into the story. I called my primary care physician this morning and me and him spoke about the records and me and him are going to schedule an appointment for next tuesday too, further discuss and for him to look at the paperwork. I'm glad that he's actually taking it seriously because I genuinely don't know how much longer I can take this. It is so so so debilitating it has affected my learning at school I feel like i'm so lost all the time. I used to be a straight a student in high school up until my senior year which is, when the brain fog, the fatigue just really set in. But anyway, I really hope I can get some good firm answers. I was really scared from about the time I was thirteen when the dizziness first set in till I was eighteen I never went to the doctor. I was scared that I probably had a brain tumor or something
And I'm just one of those people that would rather not know which I was telling my doctor about. And he said, well, it's been almost 8 years
He was like if it was something very serious.You would have way more symptoms by now, or maybe even have passed away. But hoping and praying for positive outcomes. Even though I know I have something, I don't know what it is, but i'm ready to figure out so I can start getting treatment.
I have many of your symptoms, and can really empathize with how you feel! My best advice is we must advocate for ourselves! When I was not feeling well, with neuropathy, numbness, pain etc. and suffering several years, and my medical ‘team’ only gave me once a year wellness, and placated me with my symptoms, I took action, found a different doctor, who investigated my signs and symptoms. like taking a pin to check for numbness, and scheduling an MRI! This specialist actually cared about me and my health! The results of the MRI, and the other testing, was devastating to me! I was diagnosed with 3 major ailments/diseases, that probably saved my life. I desperately needed infusions for one rare ailment! So, for seniors, like in my case, just a Medicare ‘wellness’ check. Good luck!
-
Like -
Helpful -
Hug
3 ReactionsHave you checked into superficial. Siderious? The symptoms sound similar. If you have access to Mayo Clinic Minnesota please check with Dr. Kumar and Dr Marsh, or someone trained by them. They are experts on SS and really helped me when no one else could. Please google Mayo Clinic / Steve GRINSTEAD for my operation. I hope and pray the best for you.
-
Like -
Helpful -
Hug
3 Reactions@cheyne I pray for you. Keep fighting. I can tell that you have a ain’t giving up attitude. That is good!
@stevegrinstead
Hi,
Thank you for the thoughts.
I have two options, deal with the body shutting down by trying to get more nutrients and fluid in causing more organ damage, or try to stop fuelling the problem in order to save the organs from massive glucose spikes and BP. I'm going with the staying alive despite the organ damage. Seems to me that being disabled and alive is a better option than being dead and having stopped the organ damage!
This disease is incurable and untreatable, but there is nothing saying I can't slow it's progress. Ultimately it will win, but not today.
Cheers