[Lisa Bonahoom]

Dagmar, what have you heard about BIIB078 from Biogen for genetic ALS?  C9orf72.  I start the open label next Friday.  I have high hopes!   Lisa

[Lisa Bonahoom]

Danielle, I totally get it!  Meals take forever! I always loved dining out, but before the lockdown I would order an appetizer instead of dinner so I wouldn’t tie up a table. Eating at home there is no pressure – my family knows they can start the dishes!

Recently my right hand has been weakening. That slows me down substantially.  Buttons, zippers and hooks are getting difficult.

[Lisa Bonahoom]

Does anyone else out there have Bulbar Onset?  I would love to compare notes.  It takes me forever to finish a small meal, and my speech is slow and labored.  I think that is where ALS slows me down.  The SIP has been hard on all of us but eating in public is increasingly difficult.  My tongue doesn’t work well.  It’s a circus!  People who don’t know me think I am drunk.

[Lisa Bonahoom]

Hi Dagmar!  It seems like there is a physical price for everything I do.  Mostly cramps and fasciculations.  I, too, used to multitask easily. It is indeed different now.  I can still walk well, kayak, and dance (poorly) but I cramp hard after. My right arm punishes me me in particular.  As you know, every day is different. I am thankful that my progression is slow.

[Lisa Bonahoom]

I had symptoms in early 2016 and was diagnosed with ALS in 2017.  We thought it was sporadic.  I did a study in 2018 that discovered a C9orf72 mutation.  In short order my sister was diagnosed, then two more siblings tested and were found to be positive as well.  I have two more that have not tested yet.  My first cousin on my mother’s side died of it in 2019.  My siblings and I have 8 children who have a 50% chance of having the gene.  C9orf72 is associated with dementia as well.  One sibling is showing signs of it.  The only silver lining is that they are closer than ever before to finding a treatment. I am in the Biogen trial and I have hope!  People with SOD1 have medical possibilities too.  To all of you with C9orf72, welcome to the family!  Lisa

[Lisa Bonahoom]

I would be happy to participate!  Lisa

[Lisa Bonahoom]

I was diagnosed a year before I was tested for a genetic cause, which they found.  I have the C9orf72 mutation.  One sister has ALS and dementia, and two other siblings are positive for the gene.  Two more have yet to test.  None of our kids have been tested yet. I volunteer for every trial that I qualify for.  I do it for my family.  I do know they are getting close to solving genetic ALS.  That is one good reason to test.  I need to do everything that I can to further research.  I have hope with one trial that I am in!  Lisa

[Lisa Bonahoom]

Mine started with Bulbar symptoms 3 years ago.  Your doctor can advise you!  Breathing is the issue.  If your breathing is good, you are good!   Lisa

[Lisa Bonahoom]

Dear Peter, I am sorry for your diagnosis, but your life isn’t over.  Live every day with passion!   By the way, ALS doesn’t always start with the dominant side.    My sister’s started on her non-dominant hand, mine started with my breathing and speech.  There is no blood test for ALS, but there is a blood test to see if yours is genetic.   If it is genetic there are more treatments available.  I have the C9orf72 mutation so I have been in a study that reduces the misfolded proteins in my spinal fluid.  I don’t like the lumbar punctures but I really am doing better!  Do not lose hope.  Use the time with your experts to learn!   Lisa

[Lisa Bonahoom]

Dear Peter, I wish you the best.  There is no blood test for ALS, but one can assess whether you have a genetic mutation at the root of your illness.  Most cases are not genetic by far.  A spinal tap is an extreme measure that may show some evidence, but most cases are diagnosed by observation and an EMG.   Mine was found with an EMG.  Your doctor should not make a confirmed diagnosis without seeing you over time, usually 3 months.  He or she will look for progression of the symptoms.   Best of luck to you!  No matter what, live every day the best that you can!

[Lisa Bonahoom]

I have genetic ALS due to a mutation in the C9orf72 gene.  I have 2 other siblings that are positive for the gene and two more being tested.  The last one doesn’t want to know, and has no children.  I have Bulbar Onset, my sister has Limb Onset, and my brother has no symptoms yet.  We all want to be treated like the people we are.  Our disease is not contagious!   I laughed today when I saw a line: slurring words is just talking in cursive!   I can hear and think clearly!

[Lisa Bonahoom]

Donna, I am so sorry for your voyage with your husband. It is entirely too common with this disease.  It is a tragedy that he had to endure the surgeries that may not have been necessary.  My sister was scheduled for surgery for carpal tunnel when I discovered my ALS was genetic. They did an EMG on her and found neuropathy.  She now has full blown ALS.  We support each other emotionally.  My best to you.  You have the hardest job.  I wish you strength.  Lisa

[Lisa Bonahoom]

I started volunteering for studies as soon as I was diagnosed.  I will fight this disease any way that I can.  When I found out that my ALS was genetic I redoubled my efforts.   My children are at risk.  Without clinical trials we have no hope.  The current meds do so little.  I did not qualify for NurOWN but I wish I did!  I was chosen for a trial that I can share when it’s over.  It gives me great hope! I continue with observational studies like PMP with ALSTDI.  I highly recommend doing whatever you can!

[Lisa Bonahoom]

Dagmar, as I think you know I have Bulbar Onset ALS.  So I have more mobility than most and I use it!  I dance to fight ALS!  I use Tap for my brain,  and Jazz to retain strength and flexibility.   I walk and climb stairs to try and keep my lung function better, longer.  I eat well, consciously.   My greatest weapon is sleep!  Everything works better when I sleep well.  I do take Nuedexta for speech and swallowing and it appears to help.  I am coming to the end of a successful trial that I can’t talk about, but hope to share soon!  I see the beauty of the world and it’s creatures, and I chose joy over grief.  I love life!   Lisa

[Lisa Bonahoom]

Dagmar, I absolutely live that way!   I am gifted with a positive attitude but maintain it by living each day firmly in the present, celebrating what I have rather than what I have lost.  I exercise daily, walking more than running now.  I practice Zen meditation, and it really helps my to clear dark thoughts and worries.  I maintain a healthy diet, and am so happy that I can still swallow!  I love your columns and the way you fight this disease.  9 years!  Wow!  I am 3 years in: not bad for Bulbar onset!   Lisa

[Lisa Bonahoom]

I have to warn my doctors before they test my reflexes!  They are extreme!  I am afraid I will hurt them!

[Lisa Bonahoom]

I do have twitching and some really painful cramps. At the beginning it was only in my tongue but now, almost three years later, I have them in many muscles.  I still am active and have very little muscle weakness.  I do not take anything for the cramps but I intend  to once my study is over.

[Lisa Bonahoom]

I had the first dose last Thursday with no side effects beyond slight headache and soreness at the site.  This trial is funded by Biogen and I am the only patient in this area.  There is a total of 12 people worldwide in this cohort.  I am being treated at Stanford, in California.  6 people, including me, are in the U.S.   It is too soon to feel effects, as I have slow progression, but I will keep you informed!   This drug targets only the C9orf72 mutation, at the genetic level.  That makes me a GMO!

[Lisa Bonahoom]

I started a trial today for the gene C9orf72. It runs for 40 weeks and is given by Lumbar Puncture.  I am the first human to receive 20 ml of the drug or placebo.  I have a 50/50 chance.  I will share how it goes! So far, the only side effect is bruising at the site.  I had no headache.

[Lisa Bonahoom]

I noticed a change in my singing voice.  I was a first soprano and felt like I could not support the high notes.  My breathing has changed.  I was also “talking drunk while sober”.  I saw an ENT who scoped my throat and could see no problems.  She sent me to a neurologist who sent me for a brain MRI on Stroke Protocol, which was negative.  I then had an MRI of my throat, looking for a tumor, also negative.  Next I was sent for an EMG which indicated diffuse Motor Neuron Disease in all muscles tested, especially in the muscles that control my tongue.  I could not get any results over the phone, but they sent me to a neuromuscular specialist who gently told me that I had Probable Bulbar Onset ALS. She confirmed it three months later.  That was almost two years ago. I found out last week that I have it genetically, and that my siblings and kids have a 50% probability of getting it.  One of my sisters was diagnosed with an EMG last week and will be joining the ALS Clinic that treats me.  Only 10 percent of ALS is genetic, lucky us.  I actually am lucky: I can still dance, although somewhat breathlessly!