How I'm Surviving A Very Rare Disease


In January 2008 I had my second miscarriage at five months. My husband and I were devastated but couldn't imagine what was to come next.

I was already having major, intense pain on my right shoulder, neck and unable to raise my right arm. I went to see a chiropractor but my symptoms just worsened. I told my doctor about it and requested a referral to a physical therapist. After several months of therapy without any success my therapist decided to write a detailed letter to my doctor urging him to order an MRI of my brain because the level of weakness on my right side was inconsistent with my age.

I had also started to feel deathly ill several times per day, but couldn't pinpoint why.

In August 2008 I was diagnosed with Chiari malformation, which in turn caused Syringomyelia and Hydrocephalus. My doctor, who had not encountered this illness before, gave me a Google printout to read further.

Chiari Malformation: The Chiari malformation is an abnormality in the lower part of the brain called the cerebellum. There are several different forms. The most common type is the Chiari I malformation (CM). Less commonly, it may be known as Arnold-Chiari malformation, tonsillar herniation or tonsillar ectopia. Most cases of Chiari are congenital, meaning they are present from birth.

Syringomyelia: Syringomyelia, often referred to as SM, is a chronic disorder involving the spinal cord. The condition occurs when cerebrospinal fluid (normally found outside of the spinal cord and brain) enters the interior of the spinal cord, forming a cavity known as a syrinx.

Hydrocephalus: Hydrocephalus (hi'dro-sef'a-lus) is an abnormal accumulation of cerebrospinal fluid (CSF) within cavities of the brain called ventricles.

Most people go through their entire lives without major symptoms ... but I wasn't one of those people. It is hard to diagnose because symptoms mimic regular day-to-day illnesses such as headache, migraine, allergies.

I was referred to a neurosurgeon in New York City where I lived at the time, but decided on the doctors at Johns Hopkins in Baltimore.

I sent Johns Hopkins the report from my MRI on a Thursday and spoke with a lovely lady who told me not to expect a reply for several weeks. However by Monday I got a call back that I should come in ASAP! I thought for sure that I was on the verge of death!

When I got to Johns Hopkins the doctors couldn't believe I was still standing and not using a cane or a walker! I found out that I had lost 80 percent of the nerve function in my right arm and 50 percent in my left. All the doctors proclaimed me to be a "very strong woman" ... they suggested that I had compensated so much over the years that I didn't even notice until it became unbearable.

I was scheduled for brain surgery on September 25, 2008, a surgery that lasted seven to eight hours. I was so scared going in but my husband, Steve, and family provided awesome support. Lots of people were praying for me as well. As I was wheeled into the operating room, I had such a peace that I never knew existed ... I had let go of EVERYTHING and thy will be done!

I was awoken during the surgery to make sure it was going well, but thankfully I don't remember it.

It was a slow recovery requiring me to stay in the Maryland area (thankfully I had lots of family living there) for several months after. A lot of patients have leakage and complications and have to go back into surgery, but thankfully I did not experience any of that. I had the BEST team of doctors in the world!

In less than a year, (August 6, 2009) I had a second brain surgery for the Hydrocephalus at Johns Hopkins. This was about three hours of surgery. I was still weakened from the first surgery but I somehow survived the second as well.

In July 2010 I lost my job in New York. I had worked for over 20 years at a not-for-profit, growing it from an annual budget of less than $500,000 to over $20 million.

So it's been a trying several years to say the least, but I know and understand how precious life is and that we do ourselves an injustice to squander it and not be thankful for EVERY blessing!

Today, I am 51-years-old, and I couldn't work even if I wanted to as I still have pain 24/7. I can't cook because I burn my hands and don't know it due to loss of sensitivity to hot and cold. Every day is a new struggle but I learn to cope and keep going. Both surgeries can fail and are not cures, but I probably wouldn't be here without them. I am claiming my blessings daily!

Last summer my husband Steve and I went to the cemetery with flowers for the first time and we were able to talk about how old the girls would be and what they would be like. I am able to now talk about them without getting too emotional.

The journey continues ... I started a blog to chronicle my thoughts, feelings as I navigate this illness and subsequent disability. I don't look sick but boy am I! People from as far away as Serbia, Russia and Germany are viewing my page which inspires me to continue the daily struggles.

This past year President Obama designated substantial funding to study and map the brain. The National Institutes of Health and a few other research units are doing research on Chiari Malformation, Syringomyelia and Hydrocephalus.

I have decided to donate brain tissue for research when I pass away. I hope for a cure so that the future will be better for others.

This past January, after many months of planning, I went to Florence, Italy for three months. I have always loved to travel and thought this would be a great opportunity. My husband Steve came with me for some of the time. I am so happy that I made this journey because I came back with renewed spirits and finally gaining back some of the confidence I lost over the past trying years.

The future is hopeful.

voices of strength

Credit to:
Photo: Steve Brulé