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emp1217

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Jan 29, 2015
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Loved one DX
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IN
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West Harrison
Hi all. My sister was just diagnosed with probable ALS at the Mayo Clinic, and my family is reeling from the news. She is 28 with 3 children, and this was not at all the diagnosis we were expecting. She had already been cleared of ALS/PLS by her local neurologist, but this was what she left Mayo with as a diagnosis. There are 7 siblings in my family, and we are all very close. She and I are the 2 oldest, and our siblings range down to 16 years old. It is truly overwhelming right now, knowing the pain she is feeling for herself and her children, and seeing the heartbreak of my parents and siblings.

I have the blessing and curse of being a physical therapist who specializes neuromuscular conditions, and especially in assistive technology. I've worked with several PALS and I know what's coming and that is almost too much to bear. However, I have a lot of local connections and we are trying to get her into the ALS clinic here for a second opinion or just to have a more specialized team, depending on the outcome. I know the likelihood is that this truly is ALS, but the doctors in Mayo said it was an "atypical presentation" and the physician who performed her emg wasn't completely confident it was ALS. It seems like such a huge diagnosis to dump on someone and then send them home with no resources locally.

Regardless, I just wanted to introduce myself and look for ways to support my sister. That is my main focus now is being there for her and getting her through this, one step at a time.
 
So sorry your family is being hit with this. The most important thing right now is to be seen by a neuromuscular specialist at an ALS clinic. Then you go from there one day at a time. Having a big supporting family will help her the most right now.
 
I am very sorry. She is lucky to have you. Since there apparently was some doubt I agree you should aggressively pursue another opinion. If this diagnosis is correct then you will need a local ALS clinic certainly but if there is not a really top ALS specialist there I would be tempted to seek the next opinion at one of the leading centers. I go to Mass General which is local to me but people travel from all over for care there. I would also consider Hopkins or Dr Appel in Houston
 
I'm very sorry to read about your sister's probable diagnosis. I agree that she should seek a second opinion/diagnosis. Though I was extremely upset about my diagnosis, I never had to go through a long period of uncertainty. All three doctors agreed with the ALS diagnosis within a 6 week time span. I never had the opportunity to "hope against hope", but I also didn't have to live in that mental limbo that so many here had to while they waited for a final diagnosis. Good luck to your sister and keep surrounding her with love!
 
So sorry, I understand the horror of a diagnoses, 28 is so young! the shock of it all will wear off and hopefully she will have slow progression. A second opinion is really a must, prayers for you and your family.

Janie
 
I am so sorry that you are here.
I truly hope and pray that you do not need to stay.
If you, this is certainly the place to be.
Your sister is blessed to have you as her support.
All I can say is take one day at a time...anything else is too overwhelming.
Hugs to all of you,
Cheryl
 
Thanks all. I'm always telling my patients to take it one day at a time, or even one moment if they need it. Doing it is so much harder. My sister got in touch with the ALS association here, which will be hugely helpful. We are having some trouble getting her into see the ALS specialist here because they don't take her insurance. The care coordinator is helping us and my boss is personal friends with the doctor so that helps. It's such a whirlwind...
 
Call the insurance and talk to someone who deals with insurance provider additions. We have had to do that several times. Then, if the doctor agrees, and the insurance adds him/her, they can be considered in network. ALS is a special disease and not just any neurologist can treat it.
 
Thank you for the advice gooseberry! I will definitely pass that along.
 
Sister has a second opinion appt tomorrow with the local ALS specialist. Hoping for good news, but preparing for the worst.
 
second opinion agreed ALS.
 
Very sorry to hear this. Hope she has a slow progression. There is still life after diagnosis as you know. When she is ready I hope she will join us here
 
I am so sorry. . .
 
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