Living with a Rare Genetic Disorder Part 2

mermaidbrunetteHuge reality of living with a rare genetic disorder, is that you get to know a lot of doctors. I’m enclosing the list I have to keep up with regularly. I’m surprised Barry and I get anywhere when we have a scheduled appointments.

                 MM900283642Primary Care Physcian









             sickbugs Endocrinologist

              gofishy2General Surgeon


                purplebutterflyGynecologist-Breast Health Specialist 



              0511-1006-2819-1529_Toothache_Cartoon_Character_clipart_image Oral Surgeon



              MP900433140  Cardiologist

That is only 19, but at my appointment this week, it was suggested that I locate a Nephrologist and Dermatologist for routine visits. That will put my court up to 22, I believe. These are just the doctors I see, I did not include Barry and Mom’s doctor’s that are part of our monthly routine.

Between church and visiting doctors, no wonder I’m tired. This is the first time I have actually written all of them down. Honestly, I am a bit overwhelmed.

With Cowden’s Syndrome, the important thing to remember is to closely monitor you health and keep up with yearly test as ordered. Missing one appointment  could mean a major health issue, the life or death kind.

I‘m not ready for such, but if the good Lord calls me home, I’ll be in his hands. My life is in his hands always. I’m learning not to question what God’s plan is for me. Just to put my trust in Him and things will be okay. I’m getting there, Lord….working on the fear of the unknown at the moment. It can get scarey!

Living with a Rare Genetic Disease

MP900412070My genetic nightmare started when I was 43 years old. A doctor tells you about a brain tumor st the base of you skull and that it needs to be removed as soon as possible. Your mind immediately starts a road race. Why is this happening to me? Will this affect me in the years to come? Will I be the same after surgery? A million question flood your mind.                    


Neurologist, I guess, are not known for their bedside manner. Apparently, they aren’t known to be free with information, either. Especially, when the tumor you have is a symptom of a rare genetic disorder that little is known about. Truth be told, he truly did not have a lot of answers for me. I think ratio is one in two-hundred fifty thousand.

butterflybug3Dr. O. was unable to remove all the tumor, due to the type tissue the tumor develops from. It makes it hard to differentiate between normal brain tissue and the tumor. When he first told us this news, I thought ‘great, I’ll have to do this surgery again someday.’ Dr. O. assured us we had nothing to worry about, the tumor is slow-growing and it would not be any further trouble. 

gofishy2Within four months after the surgery I started twitching from my shoulders up. On my first follow-up with Dr. O., he said he could fix the problem, but it meant surgery. He suggested we give it a little time and maybe it would go away on its on. 

teddybearlineIt did not, of course. I was referred to another doctor for evaluation and possible Botox injections. During this appointment, it was discovered that my vocal cords were twitching over 200 times a minute. The Botox was useless on my voice. Other than Barry having a couple of quiet weeks when I could not utter a word, it was useless.


Unfortunately, other issues developed that Botox can help. I honestly had no idea how much pain I had been in until the Botox took it away. Wonderful stuff, when it works. 


OK, enough about the past. If you have read my blog, you know what I’ve been through and continue to deal with daily. The following list is my day:

Up around 8am

I start doing eye exercises, as I do my squats on our Total Gym.

After the squats, I move to the exercise ball for push-ups and some balance exercises. I also do a little training with weights on the ball. 


Then to the weights. I spend about fifteen minutes on weight training.

Leg exercises on the floor are next.

Then I head to the recumbent bike for my morning ride. I’m proud of myself. I can do five miles now without pain in my leg.

That takes forty-five minutes to an hour and I do it four-five times weekly. Our dining room has been converted into my gym. My hubby is so creative.


I get breakfast next. My eyes are able to focus better by this time, do I feel safe cooking. At this point I will put supper in the crock pot.

My next chore for the day works my eyes a little better. I get my tablet out and read the bible, write a post, answer email, whatever else needs my attention.

After sitting down for a bit after my busy morning, I hit the jacuzzi to relax. As long as someone is home with me, I’ll get in the tub to relax. I get my morning care completed, get dressed and head out for errands, if I have any. I drive better than I walk, so relax.


Early afternoon is usually nap time, if mom doesn’t need help.

After that, I finish supper and wait for Barry to get in. 

There are certain things I do on certain days. If I feel up to it, I go to the gym for my exercising. I get as walk in while at the park.Too cold for that now, but they do have a great trail at the park.

By the time Barry gets home and I’m ready for bed or another nap. After supper, we relax, discuss our day and make plans for the rest of the week or discuss our days.

There are those days filled with church, doctor’s appointments, family obligations and whatever else rolls around. 


No matter what limitation I have, Barry and I have adapted our routine around the house to fit my needs. It is all about attitude and what you are willing to do. I chose not to sit down and give up, I-m fighting every step of the way. Also, educate yourself. Know what you are talking about when you see a doctor. There are days Barry and I know more about Cowden’s Syndrome than the doctors we see. Be educated!!!!