Hi, new here and desperate to talk!

[Bear1011]

I just found this group and I'm desperate to connect with anyone going through a PLS diagnosis!

I'm 29 years old and my mother has had PLS for 11 years. My grandfather (her dad) also had the disease. We didn't know what it was when he had it, but 2 years after he passed my mom started getting symptoms (she was 50) and the doctors, after years of searching (and eliminating), finally settled on PLS. They also told us it is hereditary in our family, which is unheard of as I understand it. It's also an autosomal dominant gene, so my brother and I have a 50% chance of having inherited it from her.

I've done a lot of reading about other people's symptoms, and it seems like the variation that is in my family is pretty severe. My mom was in a wheelchair within 4 years, and suffered from dementia. I haven't had a meaningful conversation with her in over 5 years. Not that it matters now, because she is completely invalid. She can still eat some foods (although this is getting harder as time goes on), but she can't move or talk. She will still laugh at funny things, so at least we still have some connection. My grandfather ended up the same way, with a feeding tube and trach, within 7 or 8 years. I know she'll end up like that in the next few.

My dad, who is awesome, takes care of her at home still. The state gives us a nurse for 8 hours a day while my dad is at work and 4 hours on Saturdays. He's had to make so many sacrifices. We also took care of my grandfather at home until he passed.

I don't know what I'm looking for, but I just need to get this stuff out to people who understand! It feels like this disease rules my life. I've known it all my life and might have it myself. Some days I'm ok, some days I'm angry, some days I'm sad. I miss my mom. I worry about my future. I hate what this thing has done to my family. It goes on and on, and knowing it doesn't get better, and she has to live the rest of her life invalid, is what is most unbearable. If just one other person gets it, I mean really gets this, I won't feel so alone.

Well thanks for reading if you made it through!

 

[vickim]

Sorry to say welcome. I am sorry for what your family is going through. You sound like you are good son. There are some here who will chime in that have pls. These diseases are horrible.

Try to stay positive. You have a 50% chance that you won't get it. All your feeling are completely valid. We are here to listen, laugh, cry, and try to answer questions for you. You are far from alone, especially here. I wish you peace and strength and I will say a prayer for your mom.

 

[Tokahfang]

If what I have is properly termed PLS, I too have it genetically. It is rare though, genes for PLS are a big unknown at the moment. Genetic UMND's aren't as uniform as your mom and grandpa's experience has been though. Oftentimes, you have grandma having needed a wheelchair at middle age, mom on a cane until she's elderly, and then the current generation in a wheelchair at 20. Even if your 50% roll of the dice isn't perfect, your mom's experience isn't necessarily what you're facing.

That doesn't help your mom, though, and I'm sorry to hear about your family's difficulties. Feel free to rant at us anytime, we get it.

 

[Nighthawk]

Hi,

I am sorry for what you are going through, I really am but, the 50% odds you are mentioning about developing PLS is NOT set in stone. At this present time, you are just worrying about an unforeseen event in the future.
What about if you don't ever develop PLS? There is another 50% odds that you will NOT develop PLS in the future. Look at the positive side of it.

You are just so young to be worrying about the future. I wish I could turn back the clock and be your age, I would be enjoying my life to its fullest without worrying too much about the future.
Just try to stay positive and all good things will come in addition.

Take care and STAY POSITIVE.


NH

 

[Bear1011]

Thank you Vicki, Beky, NH. It's amazing to get responses from people who are living this.

Most of the time I don't dwell on my 50/50 chances. What's happening to my mom is here and now and she's what I have to focus on. At the same time, I see what kind of care she needs and since I can't find out if I have this for certain, I want to be prepared if it does. Financially and everything else. I think it's just practical.

I am so sorry for what you guys are going through, and I am truly amazed at your optimism and support. I hope I can draw from your positivity. If you can stay positive, so can I. Maybe this is what I need to help me live my days instead of just make it through.

God bless and thank you! :smile:

 

[vickim]

We are here for you anytime you want for all the encouragement you can stand. Being prepared is one thing but don't dwell and fret on things that are out of your control. It is a waste of time that can be spent better by laughing, loving and good living. Peace.

 

[billbell52]

I am so sorry to hear about your mom. Hereditary adult PLS onset is truly rare. The only case that I know about is in Canada. Yours makes 2 in the last 10 years that I've heard of. I need to ask my doctor about this. Wishing you the best.

 

[Bear1011]

:smile:billbell52, I don't think my mom's doctors were able to pinpoint any particular gene or marker, but I'll have to check with my dad about that. Given that my grandfather and mom had/have PLS, and very similar symptoms, the doctors at least concluded that it is hereditary. I never had the opportunity to ask the doctors any questions, but I wish I had. It's not exactly a conversation that I want to bring up to my dad but I will. If your doctor has any input, I'd be interested to hear it. By the way, do you know much else about this case in Canada?

Thanks for posting. This is what I'm here for

 

[Nikki J]

Hi Bear
I am very sorry about your mom and grandfather. I do understand too how frightening this is. I am from an ALS family. The difference between us is that we have an identified gene and I have the defect. Knowing this though makes it even more important to make every day count. Science being what it is there is nothing else you can do. The good news is that genetic research is growing by leaps and bounds and cu res will follow.
Is your mom followed at a movement disorder clinic? Since this is so rare to be familial there may be researchers who are interested? Dr Bryan Traynor at NIH led one of the teams that found my family's gene I wonder if he would be interested in studying your family? His research nurse is Cynthia Crews ccrewsatnia dotnihdotgov is her email

 

[Bear1011]

Hi Nikki
Thank you for posting that. She is not being followed much anymore because there isn't anything else for the doctors to do but adjust her meds as necessary. I will bring up the doctor that worked with your family to my dad. Since PLS is so rare though, and ALS is much more common and severe, it's not on the "top ten" list of diseases that resources are devoted to studying. Can't hurt to ask though, right?

I am sorry that you have inherited the defect for ALS. That must be very hard news to take. May I ask, when did you find out and how did you cope with the news? I often wonder how I'd feel if I were able to find out if I have PLS. I think if I could find out, I would. I admire that you have the attitude of making every day count. It takes a strong person to face ALS and still be positive. All the best to you and your family.

 

[old dog]

I'm not sure hereditary PLS is all that rare. That's only an opinion--no basis in fact. PLS is so rare that there apparently is very little motivation, monetary or otherwise, to study it. One neurologist told me she didn't know anything about it, and the neuros at the ALS Clinic she referred me to were not much more knowledgeable.

I strongly suspect there is a genetic factor in my family. Both my father and grandfather lost the use of their legs. I was very young when my grandfather passed and do not remember much. He lost the use of his legs first and was eventually bedridden. It seems that he wasn't able to communicate during the last few months of his life, but I am unable to verify that. In 1945 in a very small town, medical care was limited. Diagnosis was a series of small strokes.

My father was always a bit of a klutz, although he was healthy and physically very strong. He lost the use of his legs after suffering a serious head injury in an accident. The effects of the injury were similar to those of a stroke, with impaired movement on the right side. He recovered much better than expected, but, over a period of about 10-12 years, he gradually lost the ability to walk. The diagnosis was lumbar stenosis. He was nearing the age of 80, so back surgery was not recommended.

The reason I think there may be a genetic connection is because I find myself doing many of the same things my father did--getting emotional at unusual times, being awkward and knocking things off tables, etc.--even making the same throat-clearing or coughing sounds.
Other people in my family have trouble with choking, although none have developed other symptoms.

I cannot afford genetic testing so cannot prove that I carry a faulty gene. It is my belief (and that of others on this forum) that this afflicition is triggered by some kind of trauma--stress, viral infection, exposure to chemicals, etc.--probably a combination of factors--the "perfect storm."

My advice to you, Bear, is to live a healthy lifestyle and try not to worry. In life in general, the things that we worry the most about almost never happen.

 

[billbell52]

It is very rare. My dad had a neurological disease with similar symptoms but he was diagnosed with a form of Parkinsons. One reference I found online is:

Medscape: Medscape Access

A unique locus for an autosomal dominant form of adult-onset PLS in a large French-Canadian family was mapped to chromosome 4ptel-4p16.1. This locus had not been implicated in ALS or in hereditary spastic parapareses, spinal muscular atrophy, or spinal and bulbar muscular atrophy.

If you can go to an MDA/ALS Clinic. They can tell you more. I wouldn't be surprised if they didn't write a paper about it.

 

[Nikki J]

Hi again Bear

I found out for sure in February but I strongly suspected it before ( no symptoms just a feeling) I cope one day at a time like we all do but knowing for sure is actually better than wondering. It sounds very Pollyannaish but I am truly grateful for each day that I am healthy. I am older than my sister who has ALS and I do wonder why she was affected already and I am not. Who knows? I also am lucky to be able to participate in research studies which helps me because I feel as if I am doing something!

Take care
Nikki

 

[old dog]

billbell - Thank you for the Medscape link. I would need to have a medical dictionary in hand to understand more than about 1/3 of the information, but this site gives the most thorough explanation I remember reading.

I visit an MDA/ALS clinic in my area. I was diagnosed there in 8/2011. My progression rate (2009/2011) was fairly rapid, but has now slowed so my neuro is just beginning to treat me like a PLS patient rather than a person with ALS. The PLS diagnosis was based on EMG results showing no lower motor neuron involvement, lack of atrophy, and overall strength. Maybe if I remain stable for another year or two, the neurologists will be more interested in my case. The department head refers to me as a "rare bird."

 

[pearshoot]

use caution with term 'rare bird' they may want to turn you into a lab rat and do multiple tests leading nowhere