Friday, May 24, 2019

Judy Snyder Personal Story of AIP

JUDY SNYDER

It was early April 1997, and I was truly enjoying my job as the guidance department chairperson of a suburban Philadelphia high school and my caseload of 10th thru 12th grade students. But the stresses of the workload were wreaking havoc on my health. I was always in pain and uncomfortable. The doctors were always prescribing stronger doses of pain medication or injection therapies. My hospitalizations were more frequent and for longer periods of time. My internist at that time insisted that I take a medical sabbatical for a year to give my body time to recover and to allow me the time for advanced testing. It was a hard decision to make, but I knew I was not physically or mentally able to give the 200% effort I gave to my job. So I decided to do what the doctor ordered.
Then on Memorial Day of that year, Larry and I were in a serious automobile accident which left me with severe abdominal pain and a wackier-than-usual neurological state. After a summer from Hell and the persistence of my doctor, the testing was done and his “gut feeling” that I had porphyria was verified. After over thirty years of pain, frequent hospitalizations, misdiagnoses, and multiple surgeries, I was diagnosed with Acute Intermittent Porphyria in September 1997. Finding a specialist to handle my treatment plan proved to be easier than the doctor, Larry, or I could ever have imagined.
I had been with a neurologist, for over a year after I had passed out in a gynecologist’s office before a routine exam. He was treating me for migraine headaches and the neurological symptoms that I had developed following a hysterectomy. During a visit, Larry happened to mention the recent AIP diagnosis and asked if he knew of any physicians in the Philadelphia area who worked with porphyria patients. Imagine our surprised reaction when he informed us that he was currently treating two other patients with AIP!! I became his third.
He had been treating the two patients with a regimen of Panhematin and D10 with much success. I was admitted to the hospital in December of 1997 for a pic line insertion and Panhematin infusions. Dr. Bell closely monitored the process to see how well I tolerated the infusions and the D10. If all went well, I would be able to receive my treatments at home. And so l entered the next phase of my life.
I became a patient of Home Infusion upon my release from the hospital. My doctor oversees my treatment plan. The Home Infusion pharmacist assigned to my case and my primary Home Infusion nurse, Janice, manages my monthly treatments. I’m on my third pharmacist, Jerry. All three have been outstanding! Janice has been with me through it all! Initially, I was receiving infusions of Panhematin once a day for five days out of every 28 days. Sort of mimicking a menstrual cycle even though I’d had a hysterectomy. Over the years, we have experimented with the dosage amounts and number of infusions and days. The meds and supplies are delivered to my front door the Friday before my treatment is to begin. The Home Infusion nurse comes to my home to mix and administer the Panhematin and to assess my condition. They all have come to feel like family. I also receive D10 via a CADD pump for the entire treatment week. Fluid bag and pump are housed in a backpack designed specifically for that purpose. I have a chest wall infusaport, so I’m home (not in the hospital) and I’m mobile.
I returned to work on a part-time basis for the 1998-99 & 1999-2000 school years. However, the stress of the job requirements (I never got the concept “part-time”), a couple of setbacks, and the death of my Father in 2000 convinced me that I could no longer do the work I so enjoyed. I was able to take a disability retirement from the school district. Since then, I’ve been slowly trying to get my life back on track. I don’t want to jinx myself, but I have not had to be hospitalized for an attack in a long time! The Panhematin treatment seems to work for me. I don’t believe I would be here today it weren’t for this drug.

Wednesday, May 22, 2019

European EPP Camp For Teenagers (Ages 7-17)





European EPP Camp For Teenagers (Ages 7-17)
Welcome to the 1st summer camp for EPP teenagers. We gather together and live some beautiful adventures in the south of France. This camp is located in a very safe neighborhood. The camp is open for every EPP teenager and we welcome you all. Some Countries that have already participated in this event are from Switzerland, Denmark, France and now is open to the United States.

 Below is the summer camp FB:
https://www.facebook.com/camp/campvacancesjeunesppe/ and website: https://campppefrance.wordpress.com
For any information you can send me an email to: berger.mireille@hotmail.fr
(When sending an email we encourage you to use Google translate) https://translate.google.com/

Tuesday, May 14, 2019

Medical Moment: Genetics

Medical Moment: Genetics
The porphyrias are inherited genetic conditions, which means that people with a porphyria have changes to certain genes that affect their body’s ability to regulate itself. When genes are copied, either to make new cells or to make a child, sometimes the body makes an imperfect copy. There can be little changes in the genes, called mutations, which can occur randomly. Sometimes these changes do not make any difference in how well the gene works, but other times they can keep the gene from working properly (referred to as mutations) and are disease causing.
In the porphyrias, these mutations are in the genes involved in a certain chemical pathway, called the heme biosynthetic pathway. Heme is a compound that the body needs to make hemoglobin and there are several steps to make this compound in the body. Each type of porphyria is caused by a defect in a specific enzyme in the heme biosynthetic pathway. Without these enzymes working properly, the body is not able to finish making heme and it causes a buildup of other compounds, called porphyrins. It is the buildup of different types of porphyrins that causes the types of porphyria.
Click the link below to learn more about Genetics!
https://porphyriafoundation.org/pa…/about-porphyria/genetics

Monday, May 13, 2019

101 PCT Porphyria

Porphyria cutanea tarda



Other Names:
 
Porphyria, hepatic
Categories:
 
This disease is grouped under:
 

Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer.[1][2] In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. For example, factors such as excess iron, alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene (which is associated with the disease hemochromatosis) can all contribute to the development of PCT.[3][1] Less commonly, PCT can run in families (called familial PCT). Familial PCT is caused by changes (mutations) in the UROD gene and is inheritedin an autosomal dominant manner.[4][1] Treatment may include regular phlebotomies (removing a prescribed amount of blood from a vein), certain medications, and/or removal of factors that may trigger the disease.[1][2]
Last updated: 3/8/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Showing 24 of 24 | 
Medical TermsOther Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
more  ]
0008066 
Cutaneous photosensitivity
Photosensitive skin
more  ]
0000992 
Erythema0010783 
Hyperpigmentation of the skin
Patchy darkened skin
0000953 
Hypopigmented skin patches
Patchy loss of skin color
0001053 
Skin rash0000988 
Skin vesicle
Blister
0200037 
Thin skin0000963 
5%-29% of people have these symptoms
Atypical scarring of skin
Atypical scarring
0000987 
Cerebral palsy0100021 
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394 
Edema
Fluid retention
more  ]
0000969 
Generalized hirsutism
Excessive hairiness over body
0002230 
Hepatic steatosis
Fatty infiltration of liver
more  ]
0001397 
Hepatocellular carcinoma0001402 
Sudden cardiac death
Premature sudden cardiac death
0001645 
Percent of people who have these symptoms is not available through HPO
Alopecia
Hair loss
0001596 
Autosomal dominant inheritance0000006 
Autosomal recessive inheritance0000007 
Facial hypertrichosis
Increased facial hair growth
0002219 
Fragile skin
Skin fragility
0001030 
Hyperpigmentation in sun-exposed areas
Increased pigmentation in sun-exposed areas
0005586 
Onycholysis
Detachment of nail
0001806 
Scleroderma0100324 
Showing 24 of 24 | 
Last updated: 5/1/2019

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  
  • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.

    If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
    If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
    You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

    Healthcare Resources


      Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
      Conditions with similar signs and symptoms from Orphanet
      Differential diagnosis is mainly variegate porphyria (see this term), diagnosis of which rests on evidence of the characteristic fluorometric peak in plasma.
      Visit the Orphanet disease page for more information.

      Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

      Clinical Research Resources

      • ClinicalTrials.gov lists trials that are related to Porphyria cutanea tarda. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. 

        Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

        Patient Registry

        • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities. 

          For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

          Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

          Organizations Supporting this Disease

            Judy Snyder Personal Story of AIP

            JUDY SNYDER TYPE OF PORPHYRIA Acute Intermittent Porphyria (AIP) It was early April 1997, and I was truly enjoying my job as the...