Dx'd PLS - headed into Clinic

[BlsdMama]

So, next week is my first appointment in the ALS Clinic.

Any idea what to expect/see?

I don't think this is headed anywhere good. My last EMG came back with no denervation but I definitely have a muscle in my right calf that is flaccid. It is 1.5" smaller than the left side.

My grandmother died from fronto-temporal dementia. It raises my risk that this is actually slow moving ALS. Would you do the genetic testing? I'm not sure I want to know. My husband and I have eleven beautiful kiddos and I don't think I want to know if there is a genetic component here. The youngest is almost three and I am forty.

What will Clinic be like? Anyone want to share? Currently I have foot drop - the foot is more like a flipper than a foot. Clonus doesn't bother me much except going up steps. My reflexes are incredibly brisk.

 

[Nikki J]

I don't have PLS but since you ask about ALS clinics and genetic testing - both of which I have experienced, I decided to answer.

On the genetics question- discuss with your doctor - but given the fact that IF it is genetic c9 orf72 is the most likely culprit I would seriously consider. I have been told very recently c9 gene blocking trials are still on schedule to start the end of 2017/ early 2018. Whether a PLS dx would get you into a trial if you are c9 I don't know. The trial admission criteria are not disclosed ahead of time and are probably not even written yet.

FALS treatments especially for sod1 and c9 are very likely to be available for your kids if needed- maybe even prevention. To get a treatment ahead of symptoms the gene would have to be known.

There is a sticky on the general forum about second opinions/ first clinic visit.

Bring snacks and fluids. Bring someone to take notes. A sweater. Collect business cards/ contact info. Find out who your primary contact should be and how to contact them. My clinic has primary nurses and in nonemergent circumstances we email. If my nurse can't help she finds someone who can. Start a file.

Clinic is often a long day and depending on your clinic you may meet all the specialties every time- or just the ones you need. think about what you need help with now and what plans might need help- like an OT home assessment

Hope this helps. Good luck

 

[Clearwater AL]

Gee... my clinic provides a great lunch.

Either in the beginning, the middle or the end I have consultation with my Neuro. It's most of the day but everybody is so nice and they fully explain everything. But like Nikki posted, for your own reference, have capability to take notes if you wish.

Welcome aboard. (Well, saying that getting a cruise ship is better but...)

PS Above is the clinic I go to... hope your is as well.

 

[Clearwater AL]

BlsdMama, I read your first Thread from 12/5/16, December last year, where you saw a GP then a Neurologist. In a following post in May of this year (2017) you posted that you have been diagnosed with Primary Lateral Sclerosis... PLS.

Could you share with us how a confirmed diagnosis was determined in just a matter of 5 months? Established protocol for a diagnosis of PLS is 3 to 5 years of neuro exams, tests, observation and exclusion of anything else. PLS is the most difficult MND to determine.

So many others have lingered in limbo for years before getting a diagnosis of PLS and even ALS.

It's interesting... maybe there's something you can share on your quick diagnosis so that it might help the many still lingering in limbo. What clinic are you going to?

PS If one Neurologist could make that determination in just 5 months I'd consider getting a second opinion.

 

[BlsdMama]

So my dx is "probable" not definite. Obviously I still have the same 3-5 year wait to be all clear from ALS as well.

The timeline was essentially this: In September of last year my GP referred to a neuro for awkward gait, foot drop, hyperreflexia, Babinski, clonus. The second neuro thought for sure MS. When it wasn't MS (via head, neck, spine MRIs and a clean EMG) she essentially said I must "feel" like I am dropping my foot but I was young and it was doubtful it was anything else. My balance isn't awesome so I asked her for a second opinion in U Iowa's Neurology.

Saw my first neuro down there shortly after. He felt for sure it was MS too. Did the lumbar puncture and ruled it out. In the mean time, clonus was getting more beats and my reflexes were becoming more brisk. I was losing more strength in my foot to lift.

He was on his way out the door to retirement and I was scheduled with another neuro for November of this coming year. But my lower leg (outside calf) looks like it has atrophy. I went into Neurology and asked a nurse to take a look at it. She called my new doc and he wanted an EMG on it.

That EMG came back clean. Because it's been almost a year and I really haven't progressed much, he cannot be sure, but he is calling it PLS. Could it turn into ALS? Well, yeah, there are people diagnosed with PLS for 12 years and then they morph. They told me in some places it is simply MND with ALS on one end of the spectrum and PLS on the other.

I have been referred to Mayo's Neurology. I am being seen there on Wednesday and they tell me that their appointment will be from 3-7 days.

Is my experience really unusual?

 

[Clearwater AL]

Thank you. Yes, I am one too... on the morph thing. You are so fortunate that you are going to Mayo... one of the best. I wish more would share their "journey" (as we used to call it here) like you have.

I too had a Neuro retire I had been seeing for 3.5 years but he referred me to one of the best.

Again, thanks. I know what you are going through... been there. No it's not unusual.

Take care.