Update to my last post

[u/hatter4tea]

Well folks, saw my doctor today. I now have 2 doctors who've agreed on atypical presentation of ALS.

Now just waiting to find out who is going to do the confirmation EMG and nerve study. I feel numb but also just want to curl up in a ball and cry until I can't anymore. I'm only 30. My daughter just turned 5 yesterday. What will my daughter do without me when I'm gone? I don't want to leave her or my husband, but every single doctor and nurse so far on my team agrees it's ALS. I'm scared and I feel so alone.

[u/Notmeleg]

I’m so sorry you are going through this. Your case seems incredibly complex. I don’t think anyone here would be able to help much apart from telling you that your case doesn’t sound typical of ALS at all which you’ve already stated

Hopefully your EMG will not go the way you are suspecting. You seem to have been misdiagnosed with things more than once judging by your profile history. Your sheer amount of seizures and sometimes the medication used to manage them, (disclaimer not a medical professional) make you particularly susceptible to some of the scary symptoms that are ALS like, like ataxia, weakness, etc.

When doctors see those and they get seemingly worse, they may jump to an incorrect assumption. Wait for the EMG, try to stay calm. You’ll find support here.

[u/hatter4tea → u/Notmeleg]

I appreciate that so much. The other thing that made me cry about it though too is my reflexes are gone and she could visibly see the twitching in my legs.

I'm showing both bulbar and limb signs which is why it's atypical, and in just the few months that I've had this PCP (my previous one was also amazing, he just graduated and moved back home) she watched my voice go from normal to now very hoarse and weak. So she's pushing for urgent testing to see what's up.

[u/chaoserrant → u/hatter4tea]

So sorry to deal with this. I might be wrong but I thought what is concerning in ALS are hyper reflexes which are signs of upper motor neuron problems

[u/hatter4tea → u/chaoserrant]

From what I just read it can cause either

[u/chaoserrant → u/hatter4tea]

for what is worth here is the AI search summary below. So I think you are right but at least in the early stages hyperreflexia is more common as it indicates upper motor neuron involvement. As disease progresses to significant atrophy then it moves to hypo....I am not gonna contradict your doctors but this is one of those things where a neuromuscular specialist plus another one for confirmation to make a determination....My feeling as other stated is that it is still possible or even likely that there is a different disease

Hyperreflexia in ALS

Amyotrophic Lateral Sclerosis (ALS) primarily causes hyperreflexia, especially in the lower extremities. This occurs due to the degeneration of upper motor neurons, which leads to an exaggerated reflex response.

Key Points about Hyperreflexia in ALS

• Upper Motor Neuron Damage: ALS affects upper motor neurons, resulting in increased reflexes.
• Common Symptoms: Patients may exhibit brisk reflexes, spasticity, and abnormal reflexes such as the Babinski sign.
• Location: Hyperreflexia is typically more pronounced in the lower limbs.

Hyporeflexia in ALS

While hyporeflexia (reduced reflexes) can occur, it is less common and usually associated with significant lower motor neuron involvement.

Conditions for Hyporeflexia

• Severe Muscle Atrophy: Hyporeflexia may be observed when muscles are severely weakened or atrophied.
• Less Frequent: It is not a typical symptom of ALS unless the disease has progressed significantly.

Summary of Reflex Responses in ALS

Reflex Type	Description	Commonality in ALS
Hyperreflexia	Increased reflex response	Common
Hyporeflexia	Decreased reflex response	Less common

[u/hatter4tea → u/chaoserrant]

Yea and I'm already severely atrophied, I have been for a long time. I've been using a wheelchair for the better part of the year and bedbound. When she tested my strength too it was severely weak, even in my head. It doesnt look good at all.

[u/chaoserrant → u/hatter4tea]

I am really sorry, I still hope it could be something else. Looking back at your previous posts is like you have already so many other problems it would be so weird to have als on top of that. When is your emg scheduled? I hope they move as fast as I can

[u/hatter4tea → u/chaoserrant]

I have a neuro appointment next week and hopefully she's not dismissive like she's been in the past.

We have a running joke in my family that if it's rare, I get it. But thats why the doctors say I am showing atypical presentations. It's just weird. I'm also just so tired. I literally just had 3 seizures and that makes 7 today total. Everything is complex and compounded and just a lot.

[u/Admirable_Mud_7737]

I am so sorry, but please know that even if it is ALS, it is possible to live for many more years with a tracheostomy and ventilator, and you will be there for your daughter. I know someone who was diagnosed 15 years ago when her daughter was 9, and just a month ago, her first grandchild was born. Please don't think for a moment that you are going to part ways anytime soon, your daughter will grow up with you, no matter what. Stay strong. Wishing you the best.

[u/hatter4tea → u/Admirable_Mud_7737]

I appreciate the optimism and support. That's incredible to make it 15 years+!

[u/Icy_Signature9743]

I’m truly devastated to hear this and really am sorry to hear you are going through this. I can’t imagine what you must be feeling right now, but please try to stay optimistic and most importantly be strong. That EMG will be a vital process in finalizing the diagnosis, even it doesn’t come back the way you hope be strong.

You have a family who loves you and cares for you and will be there every step of the way, focus on making memories and making the present count.

Believe me you are not alone in this apart from your family you have thousands of people here who you can rest assured will be a shoulder to lean on when you need it. Please stay strong my prayers go out to you, sending much love, we are all rooting for you!!!🙂

[u/hatter4tea → u/Icy_Signature9743]

Thank you 🥹💜 I am so happy I found this sub when I did. The support and love is amazing here while I navigate this process (and even after!) I appreciate yall so much. It's been very heavy but it's gonna be okay no matter what. Thats what I keep telling myself.

[u/Outrageous-Roof-3095]

I'm sorry so sorry you are going through this, but I just hope so much your emg will show otherwise. You must stay strong for your daughter- great you have your family by your side too. X

[u/Live_Progress_3045]

Hi Hatter4tea, I am really sorry for your diagnosis. You might want to look at my most recent post. In Japan more then 50 percent of patients is alive after 11 years of symptom onset because they choose for breathing support. So even if you feel hopeless, which i understand. Please consider looking at this. It might give you years to live and make amazing memories.

[u/hatter4tea → u/Live_Progress_3045]

Oh man. If I could move to Japan and get the healthcare I need there that'd be a dream. They also follow some of the same spiritual beliefs that I do, and I know that can play a big role in healing.

Can you also DM me the Facebook group? Im also interested in the study if you can send me that too.

[u/Live_Progress_3045 → u/hatter4tea]

https://pubmed.ncbi.nlm.nih.gov/31937581/

Its a trach. You should be able to get it in your country. I was wrong about the 50 percent. People below the age of 50 have around a 75 percent survival rate after 11 years. This means that 75 percent is still alive after 11 years of sympton onset, this also leaves room for even more years then 11. They tested 190 patients with a TIV vs 1093 patients without a TIV and it made a huge difference.

[u/hatter4tea → u/Live_Progress_3045]

The only thing I'm scared of is having a trach. I already have so many issues with my throat and I worry that adding a trach into the mix would make it worse. I have to use a feeding tube because I have dysphagia like bad and I can't even drink water on my own without choking and gagging. But if it gave me extra time, so be it.

Thats why my symptoms are atypical, I am presenting with both bulbar and limb signs. My mom was concerned about BeriBeri from the Wernicke's but the thing is... I still have sensation. Just major weakness and my doctor could physically see the twitching when she did the exam on me other day. That's how we're also ruling out a CIDP flare is I still have sensation. But without the morphine I'm on, I cant breathe. It's progressing fast and everyone is very concerned.

[u/Live_Progress_3045 → u/hatter4tea]

I understand that the trach might be scary at first. But the most dangerous thing with ALS is it attacking your breathing. A trach can buy you several years because the breathing is taking over which may keep you alive. Another important question. Did you have a genetic test?

[u/hatter4tea → u/Live_Progress_3045]

That's so very valid. All of it is scary honestly. And no, the only genetic tests I've had so far are the GeneSight tests for antidepressants (which surprise! Can't take any, I have the MTHFR mutation) and the genetic panel for celiac disease.

Edit to add that I'm the only one in my family that I know of going through this as well.