Oh What to do?

[Alyoop]

Saw my Neurologist yesterday. Neuro husband and him had been looking into me having a blood test to determine whether or not my MND may be this rare Genetic form of ALS (poorer prognosis than PLS IE average Breathing time 10 years) Boy That was a long winded sentence!

It would not change treatment as none is available. It would maybe send me down into the doldrums. It would mean my children (have 5) could inherit it (boo hoo).

They are academics and cannot understand why I said NO NO NO.

It did mean that I had a rather nice dinner after my appointment with an exqusite Argentinian Malbec. Even that did not persuade me however.

I could milk a few more expensive dinners out of him while I pretend that I may be swayed, but ........ I am already podgy.

Am I being irrational or selfish?

Aly Oop (which apparently is a song about a gorilla, my parents used to call me that. very nice of them )

Ha Bloody Ha Ha (sorry New Zealanders can be a bit rude sometimes)

 

[Tokahfang]

I have trouble getting excited about genetic tests that don't improve treatment, but my neurologist wore me down eventually. It should be helpful to the next person with my particular mutation, having some idea of what it can do and how far it can go. I don't get to have a prognosis, but maybe the next guy can.

It might be worth it for your kids. Finding out that my mutation was de novo, that my folks didn't pass it to me and thus my niece won't be carrying it, it made the whole family more relaxed. In retrospect, I am really happy that I took the test. There is no rush though, so you could wait until you are feeling more emotionally set for it. Your husband should stop pressuring you.

 

[Alyoop]

Thanks for the support Beky

It probably would be negative , but I am not sure if I could tell my kids if it were not. I just love them so much that it would break my heart and fill me with guilt.

I think you are right, I should just take a deep breath and sit on it for a while.

It is an interesting form of ALS that I am not sure is known about by all the neurologists. my husband had not heard of it at all.
Aly

 

[olly]

alyoop,what makes you suspect you have a rare form of als? are you showing symptoms more in line with als?

genetic testing is not 100% fool proof.
they can only look for known mutations they can identify,if its unknown they can not test and wont find it.

i had genetic testing,i suspected it was ok because no one said they found a specific mutation.
but when i asked questions about it my neuro and another doctor was evasive in there answers.
it maybe they did not have enough evidence of a hereditory condition,they found something but not sure.................or they found something that i have not developed but may do in the future.

i had a baby brother who died in infancy,he failed to thrive,could not eat,move much or anything.
he died around 1971,they did not know what was wrong.
i was poorly as a baby and had unexplained siezures.
i have ofton wondered if my illness and my brothers are connected............that is he had infantile form and i have adult form.
i looked into mitochondrial desease and found many answers that fit.

my diagnosed is pls untill autopsy,i could go round in circles driving myself mad finding other answers and putting myself through more testing.
but it wont change things,there is yet no cure for either disease.

 

[tdamess]

alyoop - lol - i remember that song , my moms song to me was tutty fruitty oh ruddie my name is ruthie , and i use to sing to my daughter beep bup-a-loupa ... oh i like them days no problems except when i heard time for bed

 

[Alyoop]

That beats geing named after a Gorilla. My Dad has a wiked sense of humour!

Hey Caroline.
Its 2.30 in the morning, can't sleep so read the article about the hereditery ALS. Its for the D90a sequence associated with the SOD1 gene test. I asked the question about how definite the diagnosis would be if it were positive and it seems that it would be a definite diagnosis.
I was glad I read it again. It answered the question I had. I would not bother having the test. Its so rare anyway.
The symptoms atart just like PLS, even with normal EMG. It often had Bladder symptoms (50%), slowly progresses after sometimes years to develope LMN signs, and bulbar at a much later stage. Its quite interesting.
I do have only UMN signs so I cannot see why I would bother having the test,
I will have it if UMN signs develope. I think this is a good compromise.

Do not have my glasses on so sorry if I have hit the wrong keys.
Hopeing your day is nice

Gorilla girl

 

[olly]

alyoop.
it was found before my diagnosed that i have hypotonia in my left lower leg.
this could be lmn though an acute umn lesion can cause it but it would not be perminant as in my case.
also i have developed pockets of atrophy in weaker areas that maybe due to the weakness.......disuse atrophy.

we can drive ourselves mad trying to find differential diagnosis and wonder what it is this or that.
at the end of the day neurological deseases at this time can not be cured.
everything is symptom treated.
disability is not the name of a disease but how it effects you(it has taken a decade for me to grasp this concept)

we have to try to live life to the full one day at a time.
when they do the autopsy and find out what was wrong it wont really matter then..........sad but true.

on a lighter note i love cats.
i watch the lion man on tv and would be my dream to visit the zion wild life park.

 

[AKmom]

when I was pregnant with my 4th and last child...the ob was very insistive that I go have genetic testing done because I already had two boys with disabilities. My youngest son with autism and my oldest with a loose diagnosed of hypotonic cerebral palsey from birth. Now my son with CP I say is 'loosely diagnosed'ed' because at the time I didn't have much experience with docs and thought they knew EVERYTHING! So when I took him to a neurologist at 2 1/2 years of age because he just wasn't developing like other kids. I was in the office 10 minutes before he told me that was the problem. No workup was done other than history and him doing a few checks on his muscle strength. No mri has ever been done. The neuro doc said it would be a waste of time to do a workup and cause stress to my son. Yet would not change anything...to live with it and move on.

So when I had the genetic testing...they could not find anything in the results to tell me about other than that my age at that time (40) gave my baby a higher risk of downs syndrome. I got the feeling that the doc and the genetic lady were really pushing for me to terminate the pregnancy...without really coming right out and saying it. I was carrying twins at that time but lost one of them. I now have a healthy 11 year old. But what I am really getting at here...the testing for me was a total waste of time and money. Its kinda like what the neuro doc said about my son...it wont change anything to run a bunch of test. Looking back now...I think the neuro doc just gave the first diagnosed out of his head...HYPOTONIC CP is a rare form. Usually its hypertonic. But there has been a few times when I saw alot of correlation between my son and me as a child growing up (although his are more evident than mine). I also had 'weak' muscle tone growing up. I was considered clumbsy and awkward and slow in developement by all the adults. I remember having to go to speech therapy for a lazy tongue and special PE for remedial ball bouncing and rope jumping. I couldn't understand then why everyone wouldn't let me do things. I always thought it was because I was a girl. Yet I was so tom boyish trying to prove I can do everything as good as a boy...never quite getting it right because I wastn't strong enough and injuring myself more times than I can remember. But now I can understand what was going through their minds. Yet I was not bad enough for them to know of a diagnosed at that time. Was it PLS the whole time? Who knows. I just know that my now is to try and keep moving and living life to the fullest of what I can do for now.

Everything else in life just keeps going. So knowing if you are passing something on to your kids who are already living...does that really change anything other than what you said about feeling guilty or stressing over it? I personally think for me it I would prefer to not know and let God figure it out. If they come up with the symptoms...then at least you know the possibility of it and it doesn't cost anything more. Genetic testing is expensive and my insurance didn't cover it. And the only reason I am seeking a diagnosed at this stage of the game is to get services from my insurance to hopefully pay for. Also I am wondering...if you get genetic proof that your kids could have this desease...does that make it easier or harder for them to attain resonable insurance? Just a thought.

On a much lighter note...I was called 'peanut' all my growing up years because I was little.

 

[Alyoop]

Sorry to say Caroline that the Lion man ended up in court. He was not the pleasant man that you see on TV. His animals were foun d to be neglected and in a terrible state. I don,t think he plays a part in Zion Wildlife park anymore. A keeper was killed there earlier this year> It was very sad. I have never been although it is only about 2 1/2 hours drive .

I love cats too. Both the ginger cats in my avatar have passed. Claude and Olly were their names. I have heaps of animals inclusing 3 gorgeous cats, 2 labradors, 3 rabbits, 4 hens , a sheep and lamb 2 young heifers and a 30year old arab pony. Quite the menagerie.

You are so right about the DX thing. I was getting along very happily until hubby and Dr came up with this. I will peacefully lay it aside, and will not bring it back into my life.

I listen to the song from Wic ked called defying Gravity every morning in the shower. The words fit me perfectly.

I will put a smile on my face and enjoy the day (even though I only had 3 hours sleep.

Hubby is off to Sydney for a neuro weekend, so I will be left in peace.

 

[olly]

OMG:shock::shock::shock:i can not believe that,that is so devastating to hear.:-(

olly/oliver was my eldests tom who died nearly 3yrs ago aged 13yrs,he was my baby.
i have oscar 5yr old ginger tom and daisy who's a tortoise shell will be 2yrs in sept.
you can see them in my album.

i adore cats,big and small.
i can't get over your news about the lion man,boy thats stunned me.

 

[Alyoop]

My Olly's full name was Oliver as well. What a coincidence.!

About 8 weeks after olly just disappeared. my daughter found a tiny little tabby kitten under a bush. It had no teeth yet and was sticky and smelly ,covered in what smelt like decomposing animal. I think she had been in a sack or something then dumped. The other kittens may have died, hence the horrid state she was in. I gave her a bath in warm water and expected her to attck me , but to my amazement she loved it and relaxed and purred while in the water.

As she was not really old enough to survive(or so we thought) we called her just "kitty". She is now 3 and an absolute honey. She is a bit wierd as she was never weaned so still tries to suckle off things. She has 2 personalities, Dr Kitty and Mr Kitty, one cute and one evil.

Just a cute story that I thought you might like.

AK Mom
Thanks for your post.
You are correct there is no point. I told my Neuro on Monday that I would not be back to see him until next July. I just need to stop having appts and get on with my life. he thought that was too long, but what is the point. I promised to see him If things got worse and he can poke more needles into me, then.
I see him at meetings and conferences anyway. I am not stupid. I think he is just giving me special treatment cause of hubby (hes boss of Neurology where we live). I don't want special trteatment, it actually makes it harder.

Boy I would love to come to Alaska sometime. I love snow. I will put it on my bucket list.

 

[AKmom]

sure come on up! Would love to show you around!

 

[olly]

alyoop,i love happy ending stories like that.
daisy was abandoned with her mother,sister and 2 brothers.
the mother was ill and near deaths door so could not feed the kittens.
my friend nursed the mother back to health and hand reared the kittens.
i got daisy at 6wks old and continued to give her milk for a while longer.
she was as small as a hand when i got her but a big fatty now lol.
my friend kept the sister and found good homes for the brothers,the mother was too wild and went off.
i just adore daisy who thinks shes a dog..............yes she growls if anyone comes to the door,growls at dogs and waits for the post man lol.
could not imagine life without her,i still miss olly every day but have his pictures around the house plus his ashes in a urn.