I just wanted to express my gratitude to the people out there that are reading this crazy blog. As I've typed before, I started so I didn't have a major melt down...my husband was already juggling my many minor melt-downs and a major one might have been the straw that broke the camel's back so to speak.
In the last year or so that I've been sharing my story with the internet, I've gotten really sick, lost my memory, designed and planned my sister's wedding (thankfully I didn't ruin it by passing out during the ceremony...but it was close), can't remember 2009's holiday season, had a battle with almost 30 MD's (see previous post about my thoughts on "MD"), survived a terrible trip to Mayo, coming back around to an old Dr. who actually cares and probably saved my life, and finally getting back to myself. It's truly been a Royal Pain In My Ass.
Through all of this though, I have this outlet and a hope that I'm helping someone else out there. In response to my venting, you readers (which I'm still amazed people are reading my blog!) have been so accepting. I love receiving emails from people that have stumbled across my page, felt a connection, and shared their story with me. Not only are we not alone, but the information we share with each other on diagnostic testing, types of porphyria that aren't commonly known, and ways we are staying healthy is invaluable. So thank you. Thanks for reading my words and stories, and I know you're laughing at my pictures too! But most of all, thanks for sharing your story with me and being there to answer my questions.
:)
Seen in a chart
2 days ago
Jan,
ReplyDeleteIt is always comforting to know we are not alone and we are not crazy as some of the docs would have us believe.
I took my boys to a new doctor at Scott and White in Temple TX. They are part of Texas A and M Medical School. The doctors there said that it sounds like porphyria. She thinks maybe it is a new kind. The boys are being sent to hematology. If I ever get the answer, trust me, you will be first to get the info.
Hugs and Best Wishes,
Rene'
Rene,
ReplyDeleteIt's so good to hear from you again! That's very interesting about your boys. What type of symptoms are they having that makes the doctors feel like it might be a new type? As I'm sure you've read, my doctors and geneticists also feel mine might be a new type of mutation. I have acute attacks and photo-sensitivity. Please keep me updated! Hope you and your family are doing well.
Jan
Jan,
ReplyDeleteTook the boys to hematology yesterday. He is an asst prof at Texas A and M medical school. After spending two hours with us, he said that "IT FITS" and he thinks that it is a new variant form of AIP. He is sending them to genetics. He said the doctor that they are going to see is brilliant and that she will probably do gene splicing to try to figure it out. It is great to be in a university environment.
I don't know if I would recommend going to see the porphyria specialist. I went and saw one of the worlds leading porphyria specialist and he did'nt even look at my records. He said that urine changes color in the sun all the time and that maybe it was my ADHD. I promptly went to my dads urologist who is also an asst prof at Texas A and M and he said "Yes, urine changes color in the sun all the time." I said, "like this?", as I showed him a picture. He said "That is Porphyria."
My dad had an attack shortly after that and took his urine up to Dr. Pee and gave it to him. Dr. Pee grabbed all the doc and was showing them. He then asked my dad if he wanted the pee back or could he have it. My dad was more than happy to give it to him. All the residents at the VA Hospital got to see my dads different colored pee.
I think you and I should have a masters in peeology : )
My symptoms are......
chronic constipation
sensitivity to smell
hypertension
pain in lower limbs
tingling in feet
weakness in all limbs
fine tremors
restlessness
excess sweating (wake up drenched in puddles of sweat)
cold intolerance
hands, feet and nose are always excessively cold
abnormal fat metabolism
paranoia
excess hair and fingernail growth
anxiety
brain fog and memory loss
sometimes English sounds foreign
migraine headaches
eyes are sensitive to sunlight
photic sneeze
partial seizures
drop foot (right foot asked Dr. N why my foot would turn in sometimes and he did not know)
waddle like a duck when I walk
night mares
wounds take long time to heal, get infected easily and scars are purple for several months
difficulty with anesthesia
had chicken pox twice
In all of this, I look at the bright side. Yes we are photo sensitive but at least we are not like Dracula. I make sure I wear sun screen during warm weather and seem to do fine with the skin but my eyes still get sensitive.
We are also blessed with wonderful husbands.
Wishing you health and sanity. Hugs to Jan,
Rene'
p.s.
would love to have you as a friend on face book but I must warn you....I am not exciting and I don't post a lot but it will give you a chance to see my family and how we somehow live a normal life.
Jan,
ReplyDeletey
This is my third attempt to send you a note so this one is going to be short and sweet. Boys saw hematologist yesterday and are being sent to genetics. Docs are convinced that it is a variant form of AIP. I am now in a university setting with Texas A and M.
Would love to have you has a friend on face book to be able to share things easier. I must warn you though, I am not exciting and do not post a lot. It would let you see how my family, and it is big, some how lives a normal life. Ok, we fake normal really really really good : )
Sending you hugs and wishing you good health,
Rene'
Rene's Symptoms
ReplyDeletechronic constipation
sensitivity to smell
hypertension
pain in lower limbs
tinge ling in feet
weakness in all limbs
fine tremors
restlessness
excess sweating (wake up drenched in puddles of sweat)
cold intolerance
hands, feet and nose are always excessively cold
abnormal fat metabolism
paranoia
excess hair and fingernail growth
premature gray hair (age 11)
anxiety
brain fog
sometimes English sounds foreign
migraine headaches
eyes are sensitve to sunlight
drop foot (right foot asked Dr. N why my foot would turn in sometimes and he did not know)
waddle
night mares
wounds take long time to heal, get infected easily and scars are purple for several months
difficulty with anesthesia
had chicken pox twice
Hello I have stumbled upon your page. I have had many strange health issues that started at age 25. I remember the day...restless tingling legs in a movie. Since then have had many other things develop. Have seen many docs and all I get is Idiopathic. Yesterday a cousin posted photos of her deceased brothers on facebook. Noting their cause of death. It was AIP. I started chatting with her as I never heard of it. She was willing to share some but not much. They had two kinds of porphyria and she also has. She also mentioned her brothers kids have it. I had remembered my mother saying she had this. But she says she has everything and we are not close. I have looked up symptoms and a number of them match. Where should I start? Primary care doctor? What testing should he do? I am afraid he won't give my concern the time of day. Any advice?
ReplyDeleteSome of my symptoms:
Problems breathing up to months after anesthesia
Idiopathic poly neuropathy
Memory loss severe short and long term
Anxiety
Shooting pains in legs and back
Tremors
Severe loss of muscle
Hormone inbalances
Tired all the time
Restless leg syndrome
Lots of body aches and pains hard to move...getting worse with time. On pain meds but don't help much
Brain fog
Sweating a lot started a few years back. I didn't sweat at all until one day when I was about 35...All came pouring out it was very strange and the worst smell ever.
Can't stand heat feel like I can't breath gonna pass out.
Smells some smells make me feel bad for hours like diesel truck fumes on the highway.
Liver functions elevated
depression
The are just some I am sure I am missing many. Any advice you can give would be appreciated.
Thank you,
Sterling
Also for years I had the following drugs listed as allergies on my medical records. As I had bad reactions to them. During my Internet search I found they are all porphyria triggers.
ReplyDeleteNorflex
Benadryl
Amitriptylene
Tramadol
Soma
And of course I am forgetting the rest. I have really bad troubles remembering anything. I.can read something ten times in a row. Then try to remember and it will be a blank...sorry.