Members & Followers

Monday, December 5, 2016

AIP & Life story of Claire Sadoniczak

Claire Sadowniczak

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)

Claire Sadowniczak of Orlando, Florida, is a member of the APF. She keeps the group encouraged and laughing. Her stories about her turtle Alamo are sheer delight and lessons in tenacity for all of us.
My mother and I have AIP; I started attacks at age 11. One thing that gives me great pleasure is rescuing a wild animal, nursing it back to health and releasing it back into the wild. One rescued 5" brown and black Florida mud turtle left me a present, an egg. It hatched on a freezing day, so I couldn't release it. The black hatchling was smaller than a dime, the shell still soft when I picked her up. I carried her in the palm of my hand as I was preparing a tank of gravel with a plastic sour cream lid as her "pond". We went to the pet store to try to find food small enough for her. They said I'd never keep her alive and she's now 11 years old. When I finally put her into her tank, she ran to the front glass begging me to pick her up again. She ignored my screaming Pomeranian who was jumping up and down in front of her tank. I named her Alamo for her courage in the face of danger.
Water turtles do not have salivary glands or pulmonary muscles to swallow air to breathe. After being out of the water awhile, her mouth dries out and her beak "squeaks". When this occurs, I put her back into her pond. Once I picked her out of her pond and put her on hubby's lap, so I could clean her tank. She doesn't like him so she began squeaking her beak when I left the room, begging to get off his lap!
She potty-trained herself, too. I kept a towel on my lap when I held her. She realized that I didn't like her mess and hasn't had an accident since she was six months old. She just squeaks her beak to ask to go back into her tank.
I feed her with a plastic spoon. Since she is in the snapping turtle family, I didn't want her to associate fingers with food. She'll swallow anything presented on a spoon, including medicine and will follow a spoon anywhere! She also loves TV and gets very involved. If a car explodes on a show, she'll open her mouth at the TV.
Once she had a respiratory infection; turtles can catch colds from people. The vet told me to add a heater and thermometer to her tank to keep the water at 80 degrees. She did not like either, popping the heater off its rubber suction cups and bashing it and the thermometer against the rocks till I removed them. It is HER home after all.
Alamo enjoys being an only child and will attack a mirror until it is removed. Although the breed is supposed to be "vicious", she is a sweety with me. She once saw a piece of shiny fuzz on my sweater that she wanted to eat. She very gently tried to get it with the side of her mouth so she would not accidentally bite me through the sweater.
I carry her around under the hem of my T-shirt or in a pocket for hours, and her little head comes out like a periscope to look around. She sits on my lap in the car. In the vet's office, Alamo watches the other animals from my lap and feels quite safe and content. I put her on the grass in the back yard for exercise, and she runs straight back to me. Definitely a lap turtle!
Alamo's Mother, Claire Sadowniczak
Prior to my diagnosis of Acute Intermittent Porphyria, I underwent abdominal surgery with sodium pentothal, went into cardiac arrest and a three month major porphyria attack. Therefore, when I learned that I needed gallbladder surgery, I was very nervous.
I found a general surgeon, Dr. Cesar Cabascango, who is not only familiar with porphyria, but I was his fifth patient with porphyria. Normally, with the laproscopic gallbladder procedure, you have surgery the same day as admission and go home the following morning. Because of my porphyria, Dr. Cabascango had me admitted the day before surgery, opened a central line with three ports in my chest, and infused large doses of dextrose. He continued to infuse dextrose during surgery and for an additional two and a half days in the hospital after surgery. By faxing information on porphyria to my insurance company, he even got them to approve the additional stay in the hospital. I did not suffer a porphyria attack whatsoever.
The surgery was performed at Florida Hospital Orlando. The Assistant Director of Anesthesiology handled my case personally, and brought me through the procedure with no problems. Everyone at the hospital researched porphyria, read the brochures from the American Porphyria Foundation that I provided, questioned me about it, and treated me with such special care that it was my most positive hospital experience ever.
Many people with porphyria have horror stories about past medical care, including myself, but things are improving and the brochures provided by the American Porphyria Foundation are a great benefit when distributed to health care professionals.

Wednesday, November 30, 2016

Let's get Down on VP

Let's get to know more about VP!


What is Variegate Porphyria?
VP is caused by a mutation in the enzyme protoporphyrinogen oxidase (PPOX), which is part of the pathway that produces porphyrins and heme. Acute attacks are similar to those in AIP and HCP but are unusual. A more common sign of the disease is blistering skin lesions, which are chronic in many people with VP.
Acute attacks almost always start with severe pain in the abdomen but sometimes in the chest, back, or thighs, and are often accompanied by nausea, vomiting, and constipation. Heart rate and blood pressure are commonly increased. These symptoms and signs are all due to the effects of the disease on the nervous system. Confusion, convulsions, and muscular weakness, due to impairment of the nerves controlling the muscles, may lead to paralysis. An acute attack usually lasts for days or weeks. Recovery from severe paralysis is generally slow.

Who gets Variegate Porphyria?
VP is especially common in South Africa in individuals of Dutch ancestry, where it has been estimated that 3 in 1,000 of the white population are affected. It is much less prevalent in other countries. Like AIP and HCP, it is an autosomal dominant disorder, meaning that a mutation is present in only one of the pair of PPOX genes.

What causes Variegate Porphyria?
As in HCP, acute attacks of VP are unusual except in the presence of environmental activating factors, such as drugs, hormones, and dietary changes. 
How is Variegate Porphyria Diagnosed?
Urine ALA and PBG are increased during attacks, but as in HCP, these may increase less and decrease more rapidly than in AIP. Plasma porphyrins are frequently increased in VP, in contrast to AIP and HCP, and the plasma of VP patients displays a distinctive fluorescence peak, which is diagnostic. Fecal porphyrins are also elevated and are predominantly coproporphyrin III and protoporphyrin.

What are treatments for Variegate Porphyria?
Management and prevention are the same as in AIP and HCP. Blistering skin lesions are much more common than in HCP and are not readily treated. The only effective preventive measure is use of protective clothing.

What is the long-term outlook after an attack of Vairegate Porphyria?
The prognosis is usually good if the disease is recognized and treated promptly, before nerve damage develops. Although symptoms usually resolve after an attack, recovery of neuromuscular function (in a severe case) may require several months. Mental symptoms may occur during attacks but are not chronic. Premenstrual attacks often resolve quickly with the onset of menses.

Can attacks be prevented?
Yes, particularly with regard to drugs and diet. Genetic VP carriers should become informed on medications to avoid (see information on AIP and HCP) and should be prepared to point their healthcare providers to on-line drug lists that are regularly updated. The American Porphyria Foundation offers a mobile phone app that pulls up this information on line (http://porphyriadrugs.com/). A Medic Alert bracelet is useful for a situation in which the patient is incapacitated. Very frequent premenstrual attacks can be prevented by a gonadotropin-releasing hormone (GnRH) analogue (Lupron, Zoladex, others) administered with expert guidance. In selected cases, frequent noncyclic attacks can be prevented by once- or twice-weekly infusions of hemin.
Individuals who are prone to attacks should consume a normal balanced diet. Despite on-line discussion, there is no evidence that pushing carbohydrate prevents attacks, and it has the side effect of weight gain, which is undesirable for most people. Fasting, fad diets (for example, high protein) and gastric reduction surgery should be avoided. If weight loss is desired, it is advisable to consult a physician and a dietitian about an individualized diet with modest caloric restriction (ca. 10%), which will produce gradual weight loss without increasing the risk of an attack of porphyria. Exercise is safe in porphyria, and recommended.

Monday, November 28, 2016

EPP Fabian family takes on Orlando FL Vacation

 As many of you know living with EPP can be tricky.  When deciding and preparing for our family trip.  We knew it would be difficult but we choose to conquer together and have a wonderful time in the Orlando Florida area.  How would we get through the Sun, was there any Shade?  To our surprise with a few calls and planning we had a wonderful family vacation.  Here are some things that we did to help make our trip enjoyable.  Hope you all enjoy!

Both of my adult children, Kevin and Katie, have EPP.  I never risked a trip to Orlando when they were younger – due to cost and risk of them having a reaction to the sun, ruining a very expensive trip.  Fortunately, we were able to go in November 2016.  It was the best trip we have ever taken together as a family.

We stayed on Universal Studio’s property at the Hard Rock Hotel.  This included 4 day passes to Universal with Fast Passes on every ride (except a couple in Harry Potter World).  The Fast Passes WERE THE BEST EVER – it allows you to go in a line separate from the regular line.  Luckily, we went at a time the parks weren’t particularly busy.  (I later learned that February is the least busy time.  A driver also said Tuesday’s and Thursday’s are the least busy days of the week.  Additionally, early afternoon is least busy as families go back to their hotels with young children to take naps).

We did present their doctor’s notes at the Customer Courtesy desk at Universal and were given one pass for our entire family to go ahead of any Fast Pass line that we needed.  The young man did not even need to read the notes – he was so accommodating and friendly.  As it turns out, we did not need to present the medical pass as most of the lines were quick with the Fast Pass or in the shade and not necessary.

The first two days were CLOUDY (yeah!!!) though good quality sunscreen was applied regardless, as well as gloves, hats, long sleeve shirts and pants worn.  Temps in the 70’s was perfect.  We spent our first two days at Universal.

Third day, VERY SUNNY, but we set this day to go to Hollywood Studios and the Magic Kingdom – we took Uber and ventured to Hollywood Studios in the morning and afternoon.   We stopped at Guest Services – again, a VERY nice young man told us we really didn’t need the doctor’s pass.  We would just tell the worker in whatever line that we needed to go to the front.  We had 3 Fast Passes that I scheduled our times in advance on the APP on my phone and it synced with our tickets.  All 3 of these rides/events were inside.  There were many shady areas, stores, and outdoor seating with shade.  We weren’t there for kid rides and such – and we planned exactly what we wanted to do for the most part.  For us, we had no need to go to the head of any Fast Pass lane we were in.

We took the shuttle to the Magic Kingdom around 3 pm.  I was able to schedule (with the APP) a Fast Pass one at a time.  We chose the Haunted Mansion (it had a 2 hour wait) – we were on the ride within 10 minutes.   We saw a few other indoor events. As the sun was down by 5:30, we were free to roam around until the show started.  I chose this day to go to Magic Kingdom since they were open later with a fireworks show at 9 pm.  We got our spot to view the MOST SPECTACULAR fireworks display we’ve ever seen.  

Our 4th day, Kevin spent his time in the Harry Potter parks while Katie and I went poolside.  She was in the shade, and I was in the sun.  We were on opposite sides of the pool, but later could find a mutually enjoyable spot.  We went back to Universal around 5 until it closed at 8 pm.  City Walk is open until 2 am with restaurants, and we walked over there for dinner OUTSIDE.  J
 
Our last day, we went back to Universal – using those Fast Passes for rides we missed, and then we spent a couple hours in the Wizarding World of Harry Potter.  Those two parks are truly the shadiest place in the two Universal parks (especially Diagon Alley).

Staying protected with cover up and sunscreen, shadow hopping, taking advantage of the Fast Passes, and planning helped us have a SUN REACTION FREE vacation that we’ve always dreamed of in Orlando FL.  P.S.  Stay hydrated as well – the parks allow you to bring in a bottle of water.






 If you would like more tips on EPP & sun in the fun check out porphyriafoundation.org for all your needs including camps for the kids.

Tuesday, November 15, 2016

Porphyria News Save the Dates!



**ATTENTION ARIZONA PEOPLE**
We are happy to announce that a doctor trained through our Protect the Future program to train the next generation of experts has moved to Phoenix. Porphyria expert, Dr. Danielle Nance, who is board certified in Hematology and Internal Medicine, is in private practice and is now the Director of the Hemostasis and Thrombosis Clinic at the Arizona Bleeding Disorders Health and Wellness Center (Address: 821 N 5th Avenue, Phoenix, AZ 85003).
In addition to porphyria, this clinic also focuses on benign hematologic conditions, specifically hemophilia, bleeding and clotting disorders. The staff is very sensitive to the needs of chronic illness and high in-tensity medical conditions. They offer social services, wellness services, and have several great pharmacy and infusion service partners.
You can make an appointment with Dr. Nance by calling (602) 680-7722. If you are able to, we encourage all porphyria patients to see an expert to manage their care. We know you will enjoy meeting Dr. Nance!

You are invited to an American Porphyria Foundation
Patient Education Meeting in San Diego, CA!!
Friday, December 2, 2016
5:30-8:30PM PST
* Presentation by A World Renowned Porphyria Expert
* Opportunity to Participate in a Q & A Session
* Meet Friends who Share Your Experiences with Porphyria at the
Meet & Greet from 5:30-6:30PM
* View the Latest Educational Material from the American Porphyria Fdn.
Seating is limited
Please RSVP: 1-866-APF-3635 or Email: porphyrus@porphyriafoundation.com
Wyndham Garden San Diego
3737 Sports Arena Blvd.
San Diego, CA 92110

Thursday, November 10, 2016

APF Meeting Hosted by Evelyn Jacobucci Information

APF member, Evelyn Jacobucci, will be hosting the next Patient Education Meeting on Friday, November 18, 2016 from 5:30-7:30 PM MST. You are welcome to bring your friends and family, but please be sure to RSVP to the APF or directly to Evelyn at 303-989-2073 or ejb2003@live.com.
Bear Valley Church
10001 W. Jewell Avenue
Lakewood, CO 80232
*Presentation about Porphyria and Q & A Session
*Meet Friends who Share Your Experiences with Porphyria
*View the Latest Educational Material from the American Porphyria Foundation

Wednesday, November 9, 2016

ALL USA PORPHYRIA PATIENTS Enrollment for Longitudinal Study













ALL USA Porphyria patients.

We need each of you to sign up for the studies of Porphyria. All types are able to join this study. The Porphyria Consortium are looking for volunteers now for the longitudinal study. Please read the following study opportunity: click on the below links to register and if you have any questions please contact the APF 1/866/APF/3635. If you have any questions please call the APF during normal business hours or leave a detailed message with a call back number and we will reach out to you.

Step 1) https://clinicaltrials.gov/ct2/show/NCT01561157?term=Porphyria&rank=4

Step 2) http://www.rarediseasesnetwork.org/

{Here you can join the contact registry. Once you join the RDCRN Contact Registry, you will receive emails with information about current research studies for your disease. In these emails, you will be given information about how to join the research study. You will also be able to contact the researchers to ask any questions about the study.}
Please consider this study for all of those who suffer from Porphyria Disease. Please sign up and share this message with anyone who may benefit.

Monday, November 7, 2016

Gail Hubler & AIP Story

I am Gail Hubler and I have AIP (Acute Intermittent Porphyria).

 It was dormant until I had a tetanus shot at age 53.

 I had some issues with pain through out my life but thought it was from standing too long at work and from accidents in car and falls. When I got home from the hospital my entire body had changed and I was trying for seven years to find out WHY!

 I had every test know to man and beast but found nothing wrong, thus, it's stress from your job. So I quit my job which didn't help. 

One day my neighbor found an article in the newspaper in the section where you ask a Doctor questions. This man's symptoms were just like mine and so many weird ones I thought this has to be it. My Doctor said he has only had one patient with Porphyria and he was from Wales.


 Most of my relations came from Wales.  During an attack, I was tested and found out. I have battled how to keep myself from attacks for eight years now.

I Have had to get off some of my medications and change some of them to another type so that they were safe to take with an Acute Porphyria.  I have not had a drink of alcohol for 13 years. When I had a drink it would make me so sick, I knew it had to go.

 Before I was diagnosed I couldn't understand why previous I had a drink on weekends for years. I was always confused and could get lost in a card board box...once I found out that was clear to me. 

So many things to watch out for and it's still a daily struggle to stay well. Tired all the time from anxiety. My worse attack came before I knew I had it and it was in the hospital after surgery! 

I had to educate myself on this disease and try to help others if I can. I swim and take medication and manage it to the best of my ability.

Thank you  Gail for sharing a brief glance of some of the changes you have made in your life to keep your AIP from flaring.  For more tips from the Porphyria Experts please visit: www.porphyriafoundation.org under Acute Porphyrias

If you would like to share you story on your Porphyria please email me directly to Amy.APF@gmail.com

                                      "Remember....Research is the key to your cure!"