Hereditary Spastic Paraplegia (HSP) Community

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DNA Testing, who has had it???

I have been waiting now for about 9 months to have this DNA testing done, February 19th is my big day in Vancouver BC,, while I am nervous I am actually a bit anxious as it is frustrating not having pathological evidence of the disease. I would like any info as to how it's done?, how long the results take and anything about Genetic Counselling, as my Dr said that I would receive this before the testing. I welcome your experience. nola

I was hoping this topic must result in some ans. for me. Anyone????

franc1s
moderator

Well, I was hoping to hear from others as well.

I have had it the genetic test from Athena. It was very expensive and it has more than doubled in price since then. I don't know what makes it so expensive. Anyway, it resulted in a simple one or two page report that basically identified SPG4.

You could ask, what benefit did this do for me and I would answer that it proved for me that I do have HSP and not something else that I will discover years later and have missed the boat working or treating that condition. Since I am the first person to have this condition in my family, the only way I knew it was hereditary is that my daughter has a mild limp which the doctors told us was due to her lack of oxygen at birth. (I didn't remember her having a lack of oxygen as her birth was relatively prompt but we lived with that diagnosis for years before I started limping.) It also gave me a place to "hang my hat of hope". That is if they ever come up with a treatment for SPG4, I will know where to stand in line. If the treatment is for another gene, I will not be so eager. Somehow I need a place to be hopeful as hope helps me a lot. But, I have been successful and probably lucky in the business world and so can afford or could afford what this test cost me. Anyone will have to weigh the cost of this test against whatever value they anticipate gaining from what is now only knowledge.

As far as the difficulty, I only remember that they sent me a slew of paperwork; I took the paperwork to my doctor who helped me complete it and sent it in with my blood samples. I think they may have sent us some bags or tubes or whatnot for the samples. It was probably 10 years ago that I did this and it may have changed a lot. I lived in a small town at the time and did not have access to genetic counselling. I'm not sure I would have trusted it or understood it, if I had, as I was in the very early stages of HSP then.

Perhaps this test it is not that expensive in other countries. I would also check to see what genes they will be looking for as I don't think they all look for all of the known HSP genes. The number has more than doubled in just the last few months.
Thanks,
Frank

Centogene AG (www.centogene.com) from Rostock in Germany has full gene sequencing around 2100 EUR for autosomal dominant gene panel (ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, ZFYVE27) + 1300 EUR gene deletion/duplication test and around 2 500 EUR for autosomal recessive gene panel (NGS Panel; CYP7B1, FA2H, GJC2, PNPLA6, SPG7, SPG11, SPG20, SPG21, ZFYVE26) + 660 EUR for gene deletion/duplication test. There are also single gene tests but I didn't search for prices. They have prices shown on their website. I don't know prices from other European providers, but they probably must be somewhere near.

I was also tested with Athena. It was $15,000! I was shocked when the statement came from my insurance company. My doctor must have known that it was not a problem when he suggested it. It was a simple blood test, but it took about 6 months to come back. A huge panel of tests were done on the blood since he needed to rule out other conditions. I had the SPG7 gene. That particular gene is autosomal recessive, and some other symptoms are associated with it, so I am glad I had the test, plus I feel better about the confirmation.

I went to University Hosp in London Ontario for genetic testing and Dr spoke about what the test could show. Dr was doing a research grant on HSP so my costs were covered. $13,000.00 . Then I had a simple blood draw, it was put on ice and sent to Athena Labs in Boston. It took 3 months, alot quicker then I was told, for results to come in. Saw Dr in London and he gave me results HSP8 and alot of other info. but in the end it really scared me more because I was told no cure. My family Dr is so much more helpful because she treats my symptoms with so much more attention and care. I think the answer is with talking to others that have this and work together for helpful ideas for relief.

It must depend on where the lab is and how busy they are for how long it takes to get test results. My family doctor is much more helpful too ktcat. Usually, they've known you much longer and know your situation better. They are also at the bottom of the chain, so many patients end up going to them for help when the neurologists seem too busy and impersonal. This is just my experience. The healthcare system is so messed up. You just have to work it and be nice and persistent.

Well I finally attended the appt with the Neuro-Genetics specialist and she did a full hour of family history and physical tests, after all that she said that , 'no you don't have HSP' based on that my father did not have symptoms when he died at 77, his mom had hsp his sister had hsp and her 2 daughters had hsp, I had all the symptoms, ( and a few extras) She said 40% of her patients tested positive for HSP4 but she decided that taking the blood test which would cost me $5000 was not warranted. Having waited 9 months for this appt, I was a little disappointed as my Dr has been treating these symptoms. He will continue to investigate possibly Cramp Fasciculation Syndrome, which seems like I hit more of the symptoms. Thanks for letting me be a part of this group but sadly I think I will move on. thanks for all the support and reply's. Good luck Everyone. nola

franc1s
moderator

Nolap,
I think you might keep your options open. I don't wish for you to have any problems but being that you do have symptoms typical to HSP, don't know what to call it and have prior history of HSP in your family, I'd say that there is still a good possibility that you have HSP even though your doctor saw evidence to the contrary. I did not have any HSP in my family prior to myself yet my daughter and I have SPG4 so the fact that you father did not show symptoms prior to 77, doesn't rule it out in my mind. If you decide to move on, all I can say, as a Texan living close to Mexico, is Vaya con Dios!

Thanks for the support appreciate it, I was pretty sure as my Dr. was that it was HSP, it is disappointing that cost tend to overrule diagnosis, and some I'm sure for some go for years to find out. I will keep my account current and will continue to investigate my symptoms. Thanks again. nola

Sorry to hear you couldn't get the dna test as it would rule it out completely. With HSP in your family background I'm shocked that didn't allow the test. I think the Dr should of filled out forms to gov't asking why you should qualify for the test. Ohip paid for mine Ontario when told family history. You can always try another Neutologist. Don't give up.

I'm still in a process of determining my final diagnosis. Last September I was hospitalized for a month with a goal to speed up finding my diagnosis. So I had complete blood tests, brain MRI and CT, MRI of cervical, thoracic and lumbar spine and EMG testing. All this diagnostic procedures are really expensive but fortunately I only had to pay hospitalization costs (that excludes medical and diagnostic procedure). After that neurologists from my local clinic asked for further consultations with state referential center for hereditary neural diseases, where chief neurologist asked for additional battery of tests to reject MS, friedreich's and spinocerebellar ataxia(unfortunately they don't do DNA tests for HSP) and set of evoked potential tests that I completed right this morning.

I don't have any case of HSP in my family. Interestingly, first thing that specialist for hereditary diseases from referential center asked me was - Did your father walked like you? After all my negative answers to his questions he pointed out that hereditary diseases may skip generations. After thorough checking of my previous results and his own tests he gave me preliminary diagnosis - HSP.

If we presume that you have HSP and if according to your symptoms, your neurologist could narrow search to particular genes . I guess that in this case DNA testing should not be so expensive. I've checked at Centogene AG web site. In case of SPG 4 (SPAST gene) price drops significantly to 200 - 1200 EUR depending of what they have to look for (http://bit.ly/1fTPQuQ).

When I'll come to final diagnosis and if it stay HSP, I'll probably do some kind of DNA test for HSP. It will at least help me with determining my disability level. It would be great if they misdiagnosed me and that my condition is curable or at least that degradation can be stopped.

Although I found out that I have SPG7 about six months ago, now I'm wondering whether I have the complex type or not as I have a SSA hearing in June. There's so many different symptoms with each case. I'm wondering if these subtle symptoms are really going to progress into something much more serious and can be detected now. I recently watched a NOVA program on genes, and saw where a person could have more than one disease. After HSP is diagnosed, the doctor just attributes everything to that, and the patient tends to also. It is probably a good thing that your doctor continues to work on your case. I got diagnosed early on and was just dropped like a hot potato. Now I'm wondering if there is more.

Thanks for your stories, support is so important. I am not totally convinced that I don't have it but there are so many neurological conditions. I am pro-active and research. I've had a CAT scan, normal, lumbar puncture, MRI and Nerve conductive studies and the Neuro genetics specialist , all negative. I was told I do not have spasms , which involves spasticity, I have fasciilations or twitches, in my calves legs and trunk, back , neck, and hands and always cramps in my legs. These symptoms don't always appear in HSP. Hope the next journey is a bit shorter.

My doctor had me tested for SPG4. It came back negative. He offered to do more testing to find the REAL culprit but I really don't see the need. If there was a cure or a treatment that improved things, then maybe. But I don't see the need for more tests. Just costs more money. If my family is going to get it...then they'll get it. Son already has it, he's 47. Daughter, who is almost 40, is starting to show signs. Daughter who is 45 shows no symptoms. Yes, it is a struggle, but I tell folks that I'm not SICK, I just can't walk right. Everything else works just fine. I DO exercise regularly, and stretch, and do warm water exercises. Just started Tai Chi, and I can tell that my core muscles were not as good as I thought they were. I can actually DO the Tai Chi exercises without holding on to something now. I'm not as graceful as the others in the class, but it is an improvement over my first day with Tai Chi where I had to hold on to a chair the whole time! Don't feel the need for any other testing. Tried Baclofen. No improvement.
OH...had CAT scans too. and MRIs. Doc wanted them done to rule out other problems.

I just found this group while looking to see how long I will have to wait for my genetic test results. They just drew my blood yesterday and sent it to Athena. Cost is estimated at 22k, hopefully with our insurance we will be responsible for 10%.

Many of your responses resonate with me. All the tests, all normal results, but there is something very not normal with me...falling, weakness, dropping things, numbness, tremors, hyper reflexia. We have no family history of HSP that I am aware of.

So now it's just sit and wait, I guess.

while I have a local neurologist, I am also seeing someone prominent at NY Presbyterian. I was hoping he would take one look at me and know exactly what was wrong, but that isn't the case. So now I wait. Next appt is end of July. I hope we have results by then.

I had the results of my genetic test today.

Mutation in my ABCD1 X-linked gene.

Worth it because now I know I have Adrenomyeloneuropathy.

Different course of treatment from regular(?) HSP.

I had mine done for free as part of a research project.

Dear Nola, could you please give me the contact number of the doctor you dealt with in Vancouver, BC? Thank you in advance.

I was just diagnosed with HSP yesterday - I was told I have an unknown form of SpinoCerebellar Ataxia in 2009, and the doctors have been trying to figure it out since. They did a genetic test for a form of Ataxia called RSACS - SPG-7 was part of the panel of tests. The RSACS-specific items came back normal, but SPG-7 showed mutation - so the geneticist changed the diagnosis. Ater 6 years of uncetainty, now at least I know what I have. I was part of a study here, so there was no cost to me for the testing. It was done at The Hospital for Sick Children (Sick Kids) in Toronto - I am 45 so that's not somewhere I normally go! There is a large number of tess in the panel that they did (about 40) - I don't have it with me, so I'm not sure what they are - SPG-7 was just one of the panel of tests.

I'm very late to a conversation that started some time ago, but I just sent my blood off for the test this week. A neurologist had suggested it a couple years ago, but why would I spend $18K to find out if it was official? More recently, I switched neurologists, and he brought it up, too. My response to him was the same, but he suggested speaking to the genetic counselor. So, I gave her a call. I learned two things. First of all, apparently it was ruled that genes can't be patented, so Athena doesn't own the business any more. In fact, they sent my blood to a company (forgive me - the name is in the document I left at the office) and it costing me nothing. Part of this may be due to my insurance (I'm on Kaiser, so this won't apply for most.), but it sounded like the other option price was $1,800. Much less than the $18K!! Secondly, I wondered if my siblings and/or their children might have/get it. (My father did.) She said if I was diagnosed, with it being a hereditary condition, family members could then get the test for only $200 as they search for just that one gene. That was the deciding factor for me. If they are interested, they will hopefully have the information they need to learn more.

I too am late to the show.I am from the UK so my costs for testing were not an issue.It was a simple blood test and the results finally came back a couple of months later.The following is exactly what I was told in the results letter.
"Analysis of a sample of Genomic DNA from patient (me) has shown that she is heterozygous for a c.343C>T sequence variant in exon 1 of spast SPAST gene,predicted to result in the p.ARG115Cys protein change.This variant has not been reported previously in the literature or previously identified in this laboratory.It involves a non-conservative change in a moderately conserved amino acid which is not located within a mutational hotspot but is close to the microtubule interaction and trafficking domain of the spastin protein. In silico analysis of the p.ARG115Cys variant is inconclusive.Therefore in the absence of functional studies,the clinical significance of this sequence variant remains unclear."

I have a mixed bag of symptoms and a waste of space neurologist who just assumes every single symptom is down to HSP,I am not so sure.

I had the testing too. There was no charge and I live in Canada. The testing was less expensive to perform since they were only looking for the same defect my brother had. Apparently we too are the only ones tested where our particular defect was identified. I found it very frustrating when my brother and his doctor would assume that every symptom was HSP and as symptoms became worse the assumption was that HSP was progressing. My belief that the underlying condition was not progressing for us, but that the effects of the weakness we were born with, were progressing. It is still a very serious condition and my brother had lost his ability to walk his last couple of years. The part I really dislike about blaming any symptom or progression of symptom on HSP , is that it leads or results in no action taken. That is, what's the point in trying to improve, if the cause is a defective gene, and there is nothing you can do about a defective gene. This assumes so many things that I believe are incorrect.

I am also from Vancouver and I have been told that genetic testing was not available in Canada. I have hsp and have children with hsp. All have infant onset. would be interested in who and how your testing is done and who you saw at UBC.

That seems very odd. My testing and my brothers was sent from Victoria Hospital in London Ontario to Sick Kids Hospital in Toronto Ontario for testing. Though I understand there are different facilities in Canada that would do the testing, I believe it could also be sent outside of country if needed.

I agree - when I had mine done (I'm in Ottawa) the genetecist I saw mentioned that some samples were going to Sick Kids in Toronto, while others went to a lab in Germany.

I don't know about the rules in BC, but there is a genetics lab in Sick Kids in Toronto.

Isberm curious did a Dr in London send you to Vic? Mine was sent to Boston for testing by a Dr Tim D in london. If you could get it done at Victoria Hosp and sent to Toronto sick kids, that would be so much easier. Athena did mine. Very interested because my children are getting older. Thanks for mentioning this.

The doctor I visited is at Victoria Hospital in London Ontario. I saw her because she had correctly diagnosed my brother. I didn't know they were sending my sample out, but received the analysis from Sick Kids and my doctor at Vic. They also tested one of my two sisters who has no symptoms.

Hi
I went to see a neurologist, and after 35 years of waiting for an answer he walked in to the office and said "After review you dr notes (I had kept my own records) you have hsp." He then sent me for blood work for genetic testing. I have no family history that I know of, I guess I'm just the special one (LOL). That was in McMaster hospital in Hamilton Ontario, and from what I understand the neurologist is a world renowned Doctor so I am assuming he knows his stuff. I have always lived with these symptoms and don't know anything else.

Marthaminihaha Wow it took until I had test done and results on paper for my Dr in London to say its HSP8. Symptoms are all different even with the same Spg #. So you had genetic testing done at McMaster hospital. I would truely appreciate knowing your neurologists name, as I have family living nearby and in future may need test done. Did you get any treatments from Dr after he diagnosed you? Thanks

I got a phone call from his office (Dr Mark Tarnapolsky) earlier this week. I am deficient in Vitamin D and need to start taking a supplement. I guess I am extremely low as I need to start by taking 3000units a day/2months then 2000units a day after that. I am very impressed with him and his offices.

Good your Dr caught that Vit D deficiencey, I had been diagnosed with MS first and they stressed how important it is. B12 can be helpful too for energy I was told.

I take a lot of vitamins each day and definitely noticed a difference in my energy and health when I went from one multivitamin a day to 2 or three capsules after every meal. I take Pure Ultranutrient vitamins. I have my blood tested each year and wasn't showing any deficiencies, but there is no doubt to me that increasing the vitamins had a positive effect.

After a year of tests my Consultant sent me for genetic testing as a very final exclusion test before confirming that I had Primary Lateral Sclerosis (PLS). HSP-7 wasn't suspected so I guess I had my blood DNA tested for a variety of spastic symptom causing DNA mutations. I'm in the UK and the tests were done by the NHS.