Read Our Stories ~ Meet Our Members

Monday, June 24, 2024

Family Survey for Diagnosing Periodic Paralysis

 


Family Survey for Diagnosing Periodic Paralysis

This was taken from our first book about Periodic Paralysis: Living With Periodic Paralysis: The Mystery Unraveled

This was geared for Andersen-Tawil Syndrome which is the most severe form and has physical and other characteristics that accompany the symptoms that most of us are familiar with. (I, and other family members, are diagnosed with this)

I was able to gather the needed information by contacting family members by email and the phone with a survey asking several questions and made a video available for them to see me during paralytic episodes. The following is the note and the questions I sent:

 

“Hello, family members,

 

Please bear with me. This email may be a little strange and is not meant to scare you. However, the doctors are very close to a final diagnosis for me, which appears to be hereditary. I need to know if other family members have these issues for the medical records. I need to ask a few rather odd questions. I hope you will help me with this. If I get this diagnosis, you will need to know about it. It is a very, very, rare and serious disease and will need to be treated if anyone in your family has it. Even if they have some of the symptoms, they may not have it get serious, but they will need to be evaluated to make sure, due to the heart issues. And, hopefully, to avoid going through what I went through if they can get proper treatment.

 

Do you have a problem with low or high potassium?

 

Do you have scoliosis?  

 

Do you have webbed or barely webbed 2nd-3rd toes? (Some of us have it; in fact, Shari's son was born with them fully webbed.)

 

 Do you have curved toes?

 

 Do you have a pinkie finger that curves toward the ring finger?

 

Do you have unusually short fingers?

 

Do you have a small mouth with crowded teeth?

 

Do you have small lower jaw?

 

Do you have teeth missing (born without them or never came in after the baby teeth fell out? (i.e., I never had wisdom teeth and after my eye teeth fell out there were not permanent ones to replace them...so I am missing 6 teeth)

 

Do you have heart palpitations, fast heartbeat or any kind of heart problem?

 

Do you have "clubbed" thumbs?

 

Do you have problems doing things with their hands and arms above their heads?

 

Do you have periodic muscle weakness or paralysis? (May be just a feeling of a limb going to sleep, especially after sitting for a while.) (May wake up at night with hands numb or trouble walking upon getting up in the morning.)

 

Do you have periodic extreme, muscle weakness after eating large meals with a large amount of carbohydrates, or sugar, stress, heat or cold, taking medications, exercise or exertion (can be delayed to the next day)?

 

Do you have problems walking upstairs or uphill?

 

Do you have weakness, dizziness etc. after fasting?

 

Do you have episodes of passing out?

 

Do you have problems with side effects or opposite effects of prescription medications or over-the-counter medications?

 

Do you have problems with anesthesia or lidocaine?

 

These things may be very subtle...not real obvious...

 

I know this all sounds a little crazy, but it is very important to our family and me. If I get this diagnosis, you will need to know about it. It is a very, very, very, rare and serious disease and will need to be treated. 

 

I hope none of these things are a problem for you. That would be great news.

 

If you want you may call to talk about this.

Love you, Mom, Grandma, Susie, Aunt Susie”

 

Many of my family members responded. The answers amazed me and confirmed for me that we did indeed have a larger problem in my family than I had even realized. Much of my extended family also had similar problems. 



Our books are available at:
PPN Books
www.amazon.com/Susan-Q-Knittle-Hunter/e/B00HVEBSSQ/ref=dp_byline_cont_pop_book_1


No comments:

Post a Comment