The Reality of Charcot-Marie-Tooth Disease & Tegmen Tympani Defect – Guest Post by Carmel

Carmel’s guest post is the 50th post in the segment on my blog, called “The Reality Of…” which gives others the ability to share their story and raise awareness of the disabilities, illnesses, impairments and invisible illnesses that they have.

*Warning – one specific description in this post may be sensitive to some readers. I will place a ** before the description starts and after the sentence finishes.

Meet Carmel!

My name is Carmel Gangi. I am 54 years old, and I live in a small town called Pittsfield, in New Hampshire, United States of America.

Carmel is standing on the summit of Cardigan Mountain, this was after Carmel's third brain surgery.

My Story

I was misdiagnosed, in 2006, with idiopathic peripheral neuropathy. My neurologist, in Concord, gave up on me because she said there was nothing she could do for me.

In the meantime, I was diagnosed with a brain tumour, and when they operated, they discovered I had a very fragile dura mater. When I asked them why, they said I was just made that way. So, after doing a lot of research on my own, and then verifying it with my new neurologist, my fragile dura mater is a birth defect; Tegmen Tympani Defect.

My new neurologist, at Dartmouth-Hitchcock Medical Centre, in Lebanon, New Hampshire, was very thorough and she was the one who diagnosed me with Charcot-Marie-Tooth Disease (CMT).

There is no cure and there is no treatment for either of my conditions. But at least I have a proper diagnosis and that makes a huge difference in how I handle the neuropathy and brain leaks.

Charcot-Marie-Tooth Disease

CMT is a hereditary neuromuscular disorder that affects how your nerves communicate with your brain. It eventually results in muscle wasting, and in some cases like mine, there is a lot of pain all the time as my nerves are dying. My type of CMT is not detectable by genetic testing, yet. There are constant improvements with testing for CMT, because there are so many subtypes.

The type I have affects the axons in my nerves. The axons are dying, which means my muscles and my extremities are not getting the messages they need to function properly. It is a very slow-progressing illness, and is not considered fatal. But I do know looking back at symptoms my grandmother had, that I got it from her. She lived to be 86 with it. The thought of living that long in this much pain is daunting.

There is constant research being done to try to find ways to slow the disease or even cure it. So, I keep hoping at some point they will find some way to, at least, alleviate the pain. Traditional nerve pain treatments don’t work for me.

Tegmen Tympani Defect

The Tegmen Tympani defect explains why I’m so prone to concussions. I’ve been prone to concussions ever since I was a child, but nobody really knew why. Tegmen Tympani defect doesn’t show up on scans or imaging. My otolaryngologist only discovered it when I had a middle fossa craniotomy to remove a brain tumour.

The brain tumour was a cholesterol granuloma, so it was benign. But they couldn’t seal it correctly and I developed an encephalocele on the right side of my head. When the bones fused back together, the bubble moved to the inside of my head. I constantly had the taste of salt water in the back of my throat because of the cerebral spinal fluid leak that it turned out to be. There was an attempt made to fix it, which failed miserably. And then a couple of months later they went in a third time and did a fat graft hoping that would seal the leak.

The problem is they don’t know if my whole brain has this defect, or if it’s just in the area where they operated. But I know it’s more than just the area they operated, because every time I get a cold or the flu, or anything that involves a lot of coughing and sneezing, I spring leaks.

I know I’m leaking when I get postural headaches, and then I have to put myself on bed rest. There’s nothing they can really do to fix it, so I have to just live with it. **If you can picture an egg without an egg white, then you can get some idea of how my brain sloshes around in my skull.** I don’t have to hit my head to get a concussion. Just a whiplash motion can cause it for me.

Carmel is smiling, she has had her second brain surgery. Carmel has a dressing covering her head and surrounded by various tubes.

Living with CMT and Tegmen Tympani Defect

So, how do I live with a Tegmen Tympani defect and CMT? My only solace right now is hiking. I do maintain a blog called The Disabled Hiker on WordPress. I don’t write on there often, because most of the time I don’t have the energy to do so. CMT zaps your energy fast. I prefer hiking in the winter when the weather is cold, because hot weather causes my brain to swell, which in turn causes more leaking, which, as a result, causes more bed rest.

I often get asked the question how can I hike if I have a walking disability like CMT? I tell them I don’t hike like a regular hiker. For one, I use hiking poles, and I rely a lot on upper body strength. I use the poles to pull myself up as well as to hold a lot of my body weight going down. Besides, I have no balance. I completely failed my balance test a couple of months ago, so I use my poles pretty much all the time.

I have three sets of poles. I use one set for winter hiking in snow and ice. And actually, I feel safest walking on ice because I wear micro-spikes and it gives me more stability. I have one set for hiking in the woods when it’s not snowy or icy, and I have another set of poles that I use just for walking around town or any place where I have to walk any distance, because I can’t walk far with a cane.

I have to be really careful with my feet. They are pretty much paralyzed, and I have no feeling in them whatsoever. And because of that, I have to do visual inspections of my feet on a regular basis to make sure I’m not developing blisters that could turn into foot ulcers. Before I was correctly diagnosed, I did develop foot ulcers and they were pretty bad. I wasn’t able to hike back then.

Hiking Has Aided My Recovery

I didn’t get back into hiking until 2016. But I could barely walk at all, and at one point I was in a wheelchair. It wasn’t until a trip to Amsterdam with my daughter that I decided I needed to get active again. We did a lot of walking on that trip and it was excruciatingly painful. But I got to meet cousins that I hadn’t met before, so all in all, it was worth it.

I also do Tai Chi and Qi Gong. The Qi Gong is to help with my breathing, because we don’t know the type of CMT I have, and I want to prevent any breathing issues that could develop. Certain types of CMT affect your diaphragm and your breathing. So, if I exercise my diaphragm on a regular basis, it should slow down anything that may be happening in that muscle.

My physical therapist tells me that hiking is the best thing I can do for myself right now. And that’s why I keep doing it. For the most part I do not wear braces on my legs. I wear hiking boots all the time for stability of my ankles. The only time I put on braces is if I’m going to be doing Tai Chi. And that’s because of the twisting motions and things. I don’t want to sprain or break an ankle. I already did that last year falling on a hike. I slipped in the mud and landed on my foot and broke my right fibula completely through.

This is another interesting thing that helped in my CMT diagnosis. When my ankle healed, it grew extra bone. I like to joke around and say that it was mother nature’s pins and screws to fix my ankle. But the physical therapist, who did my balance test, told me that some people with CMT will grow extra bone when a break heals.

She told me this when I told her my orthopaedist said I was just made that way, when I asked him why I grew extra bone. And I told the physical therapist doing my balance test that I was tired of people telling me I was just made that way, because that’s what they were also telling me regarding my fragile dura mater in my brain. She explained to me that she studied CMT specifically and discovered in some medical journals about the extra bone issue. Okay, mystery solved.

Ain’t No Mountain High Enough

My biggest accomplishment, in spite of my disability, was climbing Mount Washington in the White Mountains of New Hampshire, on July 2nd 2018. That was exactly one week before my third brain surgery. I had been working towards this ever since I came back from Amsterdam. I had no idea I was living with a brain tumour, and I still hadn’t had a correct diagnosis for my neuropathy.

I didn’t climb Mount Washington all at once. Mount Washington is the tallest mountain in the Northeast United States. It is over 6,000 ft. above sea level and has a 4,000-foot elevation gain on mostly rocky train. I had to build myself up to it. I started slow and did a number of redlining projects (hiking all sanctioned trails in a given area) in different areas around New Hampshire to build myself up, and to get the stamina to be able to climb Mount Washington.

Carmel is smiling, overjoyed from reaching the summit of Mount Washington

I was diagnosed with my brain tumour, in July of 2016. I was on my way to Canada for a hiking trip and asked my otolaryngologist if I could still go. He said yes, so I did. I didn’t get to hike the big trail I wanted to because I was having plantar fasciitis issues. But I still got at least one good hike in at Mont Megantic, in Quebec province.

Then I came home and I continued hiking. I was working on 12 peaks in the Belknap Range and I had one to go. I was getting ready to have my middle fossa craniotomy in September and I thought, I can’t leave it undone, so a couple of weeks before my surgery I climbed the last mountain of the 12 peaks, Mount Major in the Belknap Range.

Recovery from that craniotomy was horrible. It took a very long time before I could even hike again. But to make a long story short, I did have a fall, snowshoeing on Parker mountain, which turned out not to be such a bad thing, because they were able to get a cerebral spinal fluid leak sample. And that’s when they knew they had to go back in and try to fix the leak in my brain.

Ten days before that surgery, I climbed another mountain, Turtleback Mountain in the Ossipee mountains in New Hampshire. It was also part of a redlining project and I just wanted to do it before my surgery. I recovered faster from that one because they did a transmastoid approach.

Unfortunately, my doctor did not do a scan beforehand so he wasn’t prepared for the amount of fluid that was in there. He said he couldn’t get anything to stick, meaning adhesives. So, they closed me up and decided they would have to go in again at a later date. I didn’t have a date yet. So, I just kept preparing for Mount Washington and had my sights set on the Summer Solstice. However, I did get a date and they said July 9th 2018. I knew I had one shot at Mount Washington, and one shot only.

Summer Solstice was out, because the trail I had been studying for two years was closed due to snow. I had to do a crash course studying a different trail, going up another side of the mountain. So, on July 2nd, I arranged to have somebody meet me at the top, and for a hike that I expected to take about six hours, it ended up taking 11 and 1/2 hours! I had some equipment failure and some other issues going on that made it very difficult.

At one point, I thought I was going to have to call New Hampshire Fish and Game to rescue me, but I didn’t. I told God, “You brought me out here today, to climb this mountain today, so I’m trusting you to get me to the top.”

He did get me to the top. And I have to say, it was one of my greatest accomplishments. I’m glad I did it when I did, because my nerve problems were worsening and I knew I wouldn’t be able to do it again. I also didn’t know how I would be after the third brain surgery, so I wanted to make sure I climbed it before then. And the third brain surgery left me worse off than ever. So, really high mountains are now out for me.

Learning To Accept My Diagnosis

I received my CMT diagnosis, in June of last year. Then I had to deal with the mental anguish of being diagnosed with an incurable, untreatable, very painful nerve condition. I went through all the stages of grief. I finally reached a point of acceptance, a couple of months after the diagnosis. I was still recovering from my broken ankle when I was diagnosed.

But I don’t let things defeat me. I can’t do Mount Washington again, and I most likely won’t be able to do mountains at all after this year. So, I set myself one last hiking goal, and that is to finish the New Hampshire fire towers. They are lookout towers throughout the state, and when I first got back into hiking, I did the fire tower quest.

It’s really for kids, but I looked at it as a goal to work towards, as I was building myself up to do Mount Washington. I did the 5, but there are 15 in total. So, late last summer, when I was able to hike again, I did two more fire towers and I had to climb mountains to get to them. The ones that are left may require some mountain climbing, but I’m going to take it easy and go slow. My goal is to finish those before the nice weather hiking season this year is over. I don’t climb mountains in the winter. It’s just too risky for me.

My Favourite Superhero

What makes me a superhero? The fact that in spite of this horrible disease that I have to deal with on a daily basis and the excruciating pain, I still get out to the woods to hike. But it’s not as simple as hiking. I take a lot of pictures on my hikes, and I share them with people who can’t go out and hike. Also, I share my hiking adventure stories with the pictures, so that people feel like they’re on the hike with me.

I keep going to try to encourage other people with disabilities to never give up on their goals or their dreams. I was told by my podiatrist in 2016, that I had no business climbing rocks and mountains. But my mantra is, “Do not tell me what I cannot do.” That is a line that my superhero, John Locke from the TV series, Lost, would say all the time. He’s not a typical superhero as in a comic superhero, but he’s a superhero to me, because he overcame adversity on the Lost island.

My story is a story of overcoming adversity, in spite of my disability, and reaching my goals and fulfilling my dreams. And I feel that if I can do it, then it can motivate others to do it as well.

Thank you so much Carmel for sharing your story with my readers and me!

If you would like to stay up to date with Carmel, you can visit her blog, The Disabled Hiker and follow her incredible journey’s!