Life with a Rare Disease: No one knew what was wrong with me

He was 100% confident that I didn’t have ALS.

When the neuromuscular specialist at Rush University gave me the news, I wanted to celebrate.

I was briefly overwhelmed with a sense of relief. After years of living with progressing symptoms, I had long feared that I was living with ALS. I was so afraid of getting that diagnosis that I delayed going to my doctor, even as my symptoms were getting worse. I didn’t want to know the truth.

Over the years prior, I had already seen several doctors leading up to that visit. After four different doctors and two different diagnoses, I had no confidence that anyone really knew what was wrong with me. But I was sick, and it was progressing.

I now know I have a very, very rare neuromuscular disease called Neuromyotonia, also known as Isaacs’ Syndrome. It mimics the early stages of ALS. I suffer from severe muscle cramping, twitching and weakness.

My hands and arms don’t work properly. Sometimes, I can barely move them. What started as periodic hand cramps, turned into daily ones, which progressed to include twitching and eventually spread to my legs, trunk and face. Now, my symptoms are constant and widespread. I went from being a competitive athlete to struggling to brush my own hair. And my symptoms only continue to progress.

I thought a proper diagnosis would help me move on with my life. I thought once I knew what was wrong – I would be able to treat it. I thought being diagnosed with a non-fatal disease was a blessing. But, there is no blessing in being diagnosed with a rare disease that affects less than 1 in a million people. That is not a lottery you want to win.

It’s a battle. It’s a battle for treatment and a fight to educate people. And that battle has only compounded the effects of living with a progressive, rare disease.

Rare diseases, like this one, generally don’t have any clinically proven treatments and they probably never will in the sufferers’ lifetime. In my case, experts believe IVIG treatment would help slow the progression. Case studies show that it is effective for people with autoimmune-induced Neuromyotonia, like I have.

However, Aetna refuses to cover it because they claim it is experimental. For months, I have been repeatedly denied IVIG treatment. I’m currently on my 2nd level appeal. If I lose this round, I have to go before an independent review board. If I lose there, my only option it to sue Aetna for bad faith, which I am prepared to do.

There’s something very wrong with this situation.

There’s no protection for people living with rare conditions to be afforded insurance coverage for off-label use of approved treatments. Aetna is not protecting my health; they are protecting their profits because IVIG is expensive.

This isn’t about doing what’s right or thinking about the patient’s best interests, it’s about bottom lines. It’s about wearing sick people down through appeal processes until they finally give up and succumb to the insurance company and their disease.

It’s time for policy changes. It’s time to establish legislation for rare disease patients’ rights to care. It’s time to stop letting insurance companies dictate the care of minority patient demographics, that otherwise have no voice. It’s time to let the Medical Specialists define the treatment plan.

I deserve the treatment my doctor prescribed.

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1 thought on “Life with a Rare Disease: No one knew what was wrong with me”

  1. Hello, My name is Laura and i was diagnosed in May 20′ with Isaacs syndrome. I been given anti-seizure meds that only served to make my cramps worse, both in hands, torso and legs. I get cramps in all of my limbs and now my ankle is turning in and it hurts like mad……….I do not know what is going on and i have scheduled an appointment with a new neurologist. Hopefully, he will give me a medication that will actually help.
    My heart goes out to you, who are also struggling with this rare disorder and i will keep you in my prayers.

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