Racing for a Cure or racing for help?

  • Aug 23, 2021

Are you in a R.A.C.E. for a cure?  Have you ever wondered just how simple for some and complicated for others to get a diagnosis, and proper attention from your medical staff?   Wait maybe I don’t have a Dr., or no one will listen to you? If you do though are your being given the right medications and being monitored with labs, scans, appointments, CT, MRI maybe even an unnecessary surgery?

 How many types of porphyria are there? Some say hey I don’t know- I was just told I had it, you mean there are types and different treatments?   Some can be in the sun while others can’t?

This is just too difficult and now I’m learning on my own some of these drugs are orphan meaning original and some are new were these drugs approved to help the porphyria community or to help themselves?  Because, I don’t have the time, money, patience, I must work, I have to provide for my family, I can’t be sick!

Am I really that sick and rare?  Have you sat down for just a moment to understand the basics of this disease and how am going to get through this? Why do I feel so alone and distant?

Notice what the basics of Porphyria are: Porphyria

A group of inherited blood disorders resulting from build-up of certain chemicals related to red blood cell proteins. This causes severe pain in abdomen, chest, legs or back, constipation or diarrhea, nausea, vomiting, blood in urine, palpitations, and high blood pressure.

Rare (Fewer than 200,000 cases per year in US)

Often requires lab test or imaging

Treatments can help manage condition, no known cure

Can last several years or be lifelong

Generally genetic in nature, some triggers include sulfonamides, some anticonvulsants, some anesthetics etc. It does not show any symptoms but may include pain in abdomen, rashes or darkening of skins, blood in urine etc. Treatment depends on the type of porphyria. Porphyria is categorized based on severity of symptoms. Not all porphyria’s experience the same symptoms

Symptoms

The symptoms include:

  • Severe abdominal pain
  • Pain in chest, legs, or back
  • Constipation or diarrhea
  • Nausea or vomiting
  • Muscle Pain, tingling, numbness, weakness, or paralysis
  • Red or brown urine
  • Mental changes, such as anxiety, confusion, hallucinations, disorientation, or paranoia
  • Breathing problems
  • Urination problems
  • Rapid or irregular heartbeats (palpitations)
  • High blood pressure
  • Seizures
  • Cutaneous types: Sensitivity to sunlight, certain lighting severe rash or blisters
  • In CEP some even have skin, eye, hands and feet problems

Treatments

Treatment depends on the type of porphyria. Porphyria is categorized based on severity of symptoms.

Medications

  • Biologics.
    Hemin
  • Dietary supplements- To correct vitamin D deficiency - Beta carotene to lessen symptoms of photosensitivity
    Vitamin D

Self care

  • Avoid using alcohol or recreational drugs
  • Avoiding fasting or dieting that involves severe calorie restriction
  • Avoid smoking
  • Minimize sun exposure
  • Treat infections and other illnesses promptly

 

Take steps to reduce emotional stress.... the list can go on and on.  Recently we most likely saw the Olympics where teams from around the world compete to be the best. They build each other up, they are a support system, they are always the ones you can count on it seems.  This disease because of it being rare  can make us feel just like all of the above. 

It doesnt have to be that way!  The more we can do to learn, ask questions, meditate on what were reading and learning we in turn can share to our family, our doctor and our friends.

What steps must we take? We have 7 Free Facebook groups both open and closed. Get to know others and have a conversation, ask questions, learn together and be supportive of each other.

We have another freebie- We have free membership to the American Porphyria Foundation. Sign up is easy just go to www.porphyriafoundation.org and sign up!  Now what? Ask the APF for a free patient and comprehensive Dr Kit?

Why? Because you need to educate yourself, educate others, show your physician's the Dr. Packet and let them read what type you have.  Make an appointment to just talk about the disease and how your dr. or team can learn an invaluable source of information from the Porphyria Consortium. Years of training, educating, and sharing with other doctors &  patients.

Know that you are not alone just as in the Olympics they have a Bicycle race from all countries, height, weight, some can go for miles, some like the back while others like the front.  Were all in this together so with a little effort from each member we have maybe one day all the porphyrias will win the race.

R: Register with the American Porphyria Foundation become a member

A: Associate with those on social media public or private. "Research is your Key to a cure"

C: Condition your mind and body for change, accept that this will happen, maybe we slow down in the race to the middle of the bunch where many seem to be figuring things out. 

E: Educate yourself, family, physician's,nurses, hold a free Porphyria  meeting in your local area.

Get Involved- You will survive- You may even have a cure now or in the future, but it all depends on YOU!

 

 


 

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