A boogie board, a common adaptive device for people with ALS associated dysarthria. Photo by Doug Kline.

Jill Leblanc has been living with Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig’s Disease, for a little over a year. Here, Jill shares the story of how she was diagnosed, and how she has been adjusting to the realities of life with the disease – and how she is managing her symptoms – with the ALS Therapy Development Institute (ALS TDI).

I was 58 when I first began to notice symptoms of what I would later find out was ALS. Sometime in July, 2019 I had trouble swallowing my medication. Pills were getting stuck and it would take a few sips of water to get it down. Then I noticed my speech was starting to sound different. A little slurred.

My doctor felt my speech and swallowing issues were caused by a neurological issue. I was already being treated by a neurologist at Massachusetts General Hospital (MGH), and after his examination, he referred me to the Healy Center at MGH.

Once at the clinic, I was diagnosed with ALS quickly. The next step was an electromyography (EMG). The EMG was normal and did not support the ALS diagnosis. At this point I started to do a lot of research about neuromuscular disorders. Also, at this point, the pandemic hit. There Is no good time to be in the process of being diagnosed with ALS, but this felt like a particularly bad time.

The internet can be a good place to do medical research and a terrible place to do medical research. I read that the EMG is the gold standard for diagnosing ALS and a normal result ruled it out. But I also read that an EMG was only one tool and that clinical exam was much more important in diagnosis. I read that there were people who were misdiagnosed. I learned enough about the disease to realize that so much is unknown and not understood. I read that meaningful treatment is getting closer all the time, but that funding was an issue exacerbated by the pandemic.

In September of 2020, I finally received a definitive diagnosis of ALS. The genetic testing came back and showed that I have the C9orf72 mutation.

Finding Support and Managing ALS Symptoms

Back in March, I began to turn to different forums for information. Over these past few months, the place that I have found to be the most helpful is PatientsLikeMe. Through this forum, I’ve been able to connect with others who have ALS. We share tips for living with the disease, rejoice when someone has a victory, and mourn when we lose someone from our little community. Several of the people I have met are also patients at MGH, and I am hoping that we can coordinate visits there so that we can have the chance to meet in person.

At this point I can no longer form words. I can still make sounds but can’t speak. My lips, cheek and tongue are quite weak. I can’t whistle. Or pucker up to kiss my husband. I can’t hug my daughter when she comes over. She is a pharmacy tech and doesn’t want to give me COVID-19. She sees sick people all day long.

My swallowing isn’t too bad. So far, I’ve managed without requiring a feeding tube. I hope I never do. My tongue is too weak to move food around efficiently so I can chew it. I use a fork or a spoon. I eat a lot of soft foods like oatmeal, yogurt, soup, mashed potatoes. I use apple sauce or yogurt to get my meds down. And I’ll still have pizza and a beer now and then. It just takes a really long time to eat it.

I have a boogie board that I can write on to communicate as well as a phone app that converts text to speech called Speech Assist AAC. I use the boogie board the most because it’s quick and easy for my husband, as he’s a little hard of hearing. During the pandemic I don’t leave the house often, so it’s been sufficient for talking between the two of us.

I met with an Augmented Speech therapist early in my diagnosis, and I’m glad I did. I never had a period when I couldn’t communicate at all. He showed me several tools to amplify my voice, taught me how to use the Boogie board, helped phone bank my voice, and introduced me to eye gaze technology. He was very helpful, and he and I stay in touch regularly. When I get to the point where I need eye gaze technology, I’ll have to get a refresher from him. I would have liked to record some phrases in my own voice but the progression was just too fast.

I also met with a social worker at MGH and that was extremely helpful. They put me in touch with the ALS Association on Cape Cod, provided some suggestions on health insurance, and explained how I could get on SSDI. It’s hard enough to struggle with the disease, but it’s nice to know that there are so many people who want to help.

Being diagnosed with ALS is not easy and can often be a very overwhelming time. For more information if you or someone you know has been recently diagnosed, you can check out our newly diagnosed page here.