Diagnosed HSP, Sister to PLS Disease

[Craig Mattice]

Well, my situation is a tad different than some people in this forum. I am home bound due to total disability from Hereditary Spastic Paraplegia or HSP. It is a serious deteriorating motor neuron disease that has no treatment or cure and only continues to get worse in degeneration of the neurons. You might be surprised to learn that only 20K people in the US have been diagnosed with this disease. I draw Social Security from Uncle Sam, if that's not scary in itself?

In June of 2000 I was formally diagnosed with Primary Progressive Multiple Sclerosis. All of this while actually training for a full marathon in Hawaii. I was very physically and mentally fit. In October of 2004 they rescinded my PPMS diagnosis as my MRIs were not matching my rapid disability progression and deterioration. ALS had been ruled out completely. After a full year of university visits, second opinions, and multiple neuro and muscular testing, I was diagnosed with HSP.

If all of that, as if this isn't enough for most people, I've had a serious recent development that occurred December 11, 2008. To simplify my explanation I've included two links to YouTube videos that I made which will give you a good idea of my current situation. Please bear with me as I hope this works.

#1: 1/1/09 -YouTube- New Year's Greeting from Craig Mattice

#2: 1/15/09 -YouTube- Stroke Update for my friends

I look forward to being of value to the members, sharing experiences, opinions, and learned knowledge with all. Please feel free to contact me with any questions, post any comments, opinions, or observations.

With sincere Gratitude,

 

[olly]

hi craig

welcome to the forum:-D
i think you are FANTASTIC:-D
sorry to hear about your stroke but your recovery has been great,good to see you are now able to use crutches.
can i ask you a question?
i presume the speech problems were a result of the stroke but prior to that have your symptoms just been in your legs? or have other areas been involved?
the reason for my question is hsp generally just effects the lower body but pls also effects upper body and bulbar.
some has been diagnosed as hsp but the severity sounds more like pls.

i was thought to have possible ms for several years but my mri,s kept coming back ok.
i started with umn symptoms in legs progressing up to bulbar,then some loss of contraction/hypotonia in my left lower leg plus atropthy in that foot/ankle.

i hope to chat more to you soon,i am sure many will drop by your thread and welcome you.
ps........did you have genetic testing for hsp? i did but it was negative.

 

[Zaphoon]

Craig,

Welcome again.

 

[lovelily]

Hi Craig....You are an amazing person! Welcome. God bless. :-D

 

[Craig Mattice]

Hi Olly,

I seem to have a mixture of symptoms very similar to advanced MS but other symptoms, including the high arches, indicate HSP with some family history suspected. At this time, my neuro believes HSP is the best best, definitely NOT MS. I just keep an open mind as I don't believe what name you put on it, it will not change the symptoms that I have. BTW, the speak challenge is from the stroke and improving everyday.

Thanks for asking Olly.

 

[kevinw]

HSP Testing Question

Hi Craig,

My understanding is that there is a genetic test to confirm HSP. My doctor has ordered an HSP test as a last resort to eliminate, but I was informed by the testing company that the cost was $10,800 and since they were "out of network" of the insurance company that I had at the time then could not confirm how much (if any they would pay). Now I have a new insurance that states that as long as I can find a genetic testing company "in network" they would cover just about 100%, if I went "out of network" I would pay about $3,500 out of pocket.

I know it would be a good thing to either confirm or eliminate, but I just can not afford $3,500 out of pocket just as a process of elimination.

I just don't know what to do about the test, or how it might mess up my SSDI which started the beginning of this year. Again, like you said there is no treatment and no cure, so it's hard to see the benefit of spending the money.

 

[Craig Mattice]

Hi Kevin,

Yes, I was offered the same opportunity but also felt the value of the test did not offset the financial investment. I too have SSDI and why muddy the waters although I would still be totally disabled according to SSDI.

I have talked with my kids and they are aware of what symptoms to look for and we all agree that we will deal with what situations come up when they come up. Science is wonderful but many times not worth the time, effort, or money.

I would just forget about the test. I did!

Craig