The ALS ice bucket challenge is all over the internet. Lots of people are doing it in half measures (no ice – which I suppose is proof of how cold the water actually is)and some are doing it without any real understanding of the purpose behind it. Such is the power of the internet. We don’t even have to understand something in order to line up to do it because everyone else is.
I watched one of the video’s of a young man who understands ALS from a different view than most of us. Then I spent a night tossing and turning.
I was impacted by the pictures of him tending to his mother. It brought back too many memories of the 3 years my husband suffered before he died. It also brought back conversations we had where he asked me to make sure that I shared his story so that this did not have to happen to any other families. That was kind of how he rolled. He hung on way beyond anyone’s expectations because he was worried about the kids and I. He took his friends out for coffee or lunch to tell them he was dying because he could not bear that they would “hear it” casually from someone else. He wanted people to know he knew he was dying and that he would be ok. He wanted them to know he appreciated them. He wanted his suffering to create understanding and compassion and maybe even force changes for other Acute Intermittent Porphyria Sufferers.
And then he died.
And life moved forward and even within the family there was this attitude of, “stop talking about it, move on,” like that was the healthy thing to do . . . like that was more noble than honouring his wishes or caring about other people who are currently living the hell we once did. Our lives became comfortable. Denial was so much easier. Everyone has a choice as to how they want to process what happened and what they do with the information and we all found our comfort level moving ever further away from the painful memories.
But last night I could not stop thinking about my husband and how he suffered and what he asked. His children have children. Within that one short generational step the knowledge and understanding of the disease is almost completely unknown. Yet, the children have the potential of developing the disease or being silent carriers. Their children could be silent carriers for generations before the disease pops up again. One daughter is in the nightmare her father was where she was diagnosed and since that time all the doctors are debating that diagnosis and dragging their feet unwilling, not knowing how to deal with it. The rest of the family pretty much avoids her, often with eye rolling and impatient tapping of our feet. We have become the people who left my husband in tears as he struggled with trip after trip to the hospital in ambulance with a pain that was not silenced, not even with all the morphine, marijuana, and dozens of other drugs they gave him. When we aren’t thinking about our own family, it is highly unlikely we are thinking about other families. I had failed to keep the promise.
I did it because it was easier then dealing with the responses from people who were sick of hearing about it.
But my promise was never to any of them. It was to my husband. I am here and he is gone. I have the privilege of walking out into the sunshine to get away from unhappy thoughts, or of turning the channel. He does not. He asked very little of me, not in life and not in death. How did I get from where I was to here where I have allowed others discomfort to keep me from doing what I promised?
ALS occurs in one in 30,000 I think the young man said in the video. AIP is about one in 50,000. The Canadian Foundation, so desperately needed to provide resources for sufferers and to compile a list of medications that should be avoided, had to fold due to lack of funding. I was on the board for a few years and those few women worked tirelessly on a shoestring. There was no government funding. We constantly had doctors say they would help and then do nothing. But we did hear from the families who were suffering. The stories were all the same. Problems to get diagnosed, and then constant debating over the diagnosis from every doctor they came into contact with. Inconsiderate, rude, unkind treatment at the ER. Accusations of suicide attempts and drug seeking. Family and friends who accused them of malingering. Loneliness. Desperation. And pain. So much pain. The point is the Doctors do not know anything about AIP. They tell you that. And the nurses, even less. Most have not heard of it. One doctor told us they spent all of 15 minutes on it in medical school and were told to forget it because they would never see it.
The Canadian Foundation had to close down, not because there was not a need, but because those people could not fund the foundation all by themselves and everyone else was busy giving to the annual cancer run/fund/dinner/etc. Everyone knows someone who has/had cancer. We know what it looks like and how to respond to it. Very few people know someone with AIP.
What is Acute Intermittent Porphyria? There are lots of complicated medical jargon explanations, but as simply as I can … the body naturally produces porphyrins as part of the heme in the blood. The liver has several enzymes that aid in this and if one of those enzymes are missing you end up with porphyria. There are several different types of porphyria; the others involve skin rashes and reactions to the sun. When an enzyme is missing, the porphyrins do not get changed into heme and they build up in the body and attack the nervous system. People often have very dark or purple coloured urine during an attack.
Symptoms in AIP can be variable. They include:
- Abdominal pain which is severe and poorly localized (most common, 95% of patients experience)
- Urinary symptoms (Dysuria, urinary retention/incontinence or dark urine)
- Peripheral neuropathy (patchy numbness and paresthesias)
- Proximal motor weakness (usually starting in upper extremities which can progress to include respiratory impairment and death)
- Autonomic nervous system involvement (circulating catecholamine levels are increased, may see tachycardia, hypertension, sweating, restlessness and tremor)
- Neuropsychiatric symptoms (anxiety, agitation, hallucination, hysteria, delirium, depression)
- Electrolyte abnormalities (Hyponatremia may be due to hypothalamic involvement leading to SIADH that may lead to seizures).
If it is known that someone in a family has AIP, and their enzyme value is low in red blood cells, other family members who have inherited a deficiency of PBGD can be identified by measuring the enzyme in their red blood cells. Latent cases so identified can avoid agents known to cause attacks. However, in some AIP families, PBGD is normal in red blood cells and is deficient only in the liver and other tissues. Falsely low values sometimes occur due to problems with collecting and transporting the sample. Source American Porphyria Foundation
I am suspecting that our family has some mutations of AIP for two reasons. The first is the issue with the testing and the second is that normally AIP sufferers are somewhat like MS in that they have attacks and then periods of time in between where they are fine. My husband had almost constant attacks for the entire 3 years before he passed away. My daughter has a bit more of a reprieve between attacks and hers are not as severe as her father’s were.
Hospitalization is often necessary for acute attacks, particularly if nausea and vomiting have prevented adequate oral intake. Medications for pain, nausea and vomiting, IV hydration, and close observation are generally required.
Glucose and other carbohydrates can help suppress disease activity, are given by vein or by mouth, and are part of initial treatment. Intravenous heme, however, is both more specific and effective than glucose and should be started if the patient’s symptoms fail to improve within 36 hours. Heme is sold as Panhematin®, from Recordati Rare Diseases. Most hospitals do not stock it. Therefore the pharmacy must be notified at the time the patient’s admission to initiate a request for air-freighting enough medication for 5 days of treatment. Generally, shipping will take at least 24 hours.
Panhematin, is the only commercially available form of heme for treatment and prevention of acute porphyric attacks in the United States. Heme arginate, which is marketed in other countries as Normosang® (Orphan Europe), is another preparation for intravenous administration. The main side-effect of Panhematin® is irritation of the vein used for infusion (phlebitis). This is avoided by slow infusion through a large caliber vein or central line. Adding human albumin to the heme solution also may reduce the risk of phlebitis. (Directions for preparing Panhematin® in this manner can be obtained from porphyria specialist and is included in the Primary Care Physician/Emergency Room Kit.) Heme therapy is indicated only if an acute attack of porphyria is proven by a marked increase in urine PBG. It may be useful also as preventive therapy for people with frequent recurrent attacks.
During treatment of an attack, attention should be given to salt and water balance. Harmful drugs should be stopped. These include barbiturates, sulfonamides, and many others (see the Acute Porphyria Drug Database). Attacks are often precipitated by low intake of carbohydrates and calories in an attempt to lose weight. Thus dietary counseling is very important (see below). Premenstrual attacks often resolve quickly with the onset of menses; hormone manipulations may prevent such attacks.
AIP is particularly dangerous if the diagnosis has not been made and if harmful drugs are administered. The prognosis is usually good if the disease is recognized and if treatment and preventive measures are begun before severe nerve damage has occurred. Although symptoms usually resolve after an attack, some patients develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months or longer after a severe attack. Mental symptoms may occur during attacks, but are usually not chronic.
Wearing a Medic Alert bracelet is advisable for patients who have had attacks. People who are asymptomatic carriers of the genetic trait may choose not to wear a bracelet but should be prepared in any medical encounter to advise their care-givers of medications that are risky in AIP. It should be remembered that AIP patients can develop other diseases, and symptoms will not always be due to porphyria. Source American Porphyria Foundation
If you know the disease exists in the family there is actually quite a bit you can do to make sure that the disease never develops. Like many things we can discover in our DNA, the potential for the disease is not a fait accompli. The biggest part of it is avoiding the many drugs that can cause it to start. The PROBLEM is that it requires a vigilance that most people are not willing to put in. It requires educating yourself and your doctors. It will involve some fights when doctors want to argue about having to actually think about what they use for you instead of writing a script that they hand out to everyone else. It requires some self discipline – avoiding drugs and alcohol, no fasting or dieting, etc etc. These are things you have to put in place from the beginning and people would rather gamble with the outcome. The fact that if it goes south they will spend the rest of their life asking why they made that gamble, is not a tangible reality. How do you convince young people NOT to drink or do drugs because of a maybe? So most people, like in our family, choose not to deal with it, or to pretend it never happened. And I am not just talking about our kids, I am talking about HIS family and their children.
Getting genetically tested can seem to be the way to go, once you are cleared you can not worry about your kids having the illness BUT it is expensive and now we have so many reports about botched testing and even talk that there is much more to DNA than we once thought which might make some of those results suspect. Any testing is a helpful clue and of course, everyone has to make their own decisions. The purpose of this is not to judge or point fingers, it is only to inform and open discussion. AND aside from the testing, so you find out you are cleared in your family … what about your siblings? Your life is good to go and to heck with them? If family is not going to support one another, what hope do we have of eliciting the compassion of strangers?
What can we do?
Please remember that there are lots of rare diseases that you have never heard about that have no big funding campaign and no government support. That means there will be very little research being done to help the families suffering.
Don’t assume, just because you have not heard of a disease, or because the person is not wasting away or looking really sick, that they are not sick. Don’t assume because they are able to work in the garden Tuesday after being in the hospital Saturday night and having the whole family called in because the doctor says it does not look good, that the person wasn’t dying Saturday night.
Be supportive of people who have a chronic, unknown illness. If you can’t offer help, at least do no harm. I remember one of my husband’s family phoned him and told him to get off his ass and find a job – just a couple weeks before he died. Trust me, the person already feels like crap, already beats themself up daily, they don’t need your help.
Consider giving some of your charitable donations to rare diseases. You should at least be supporting the causes that your own family is too familiar with. United Way and other organizations allow for you to direct your donations to specific charities. Look around you at your friends and neighbours. Ask questions. People are often happy to talk about what is going on and educate people. You might be amazed at the courage of the people you have interacted with for years, when you learn what they have been dealing with on a daily basis.
Love one another. Be the arms that hold someone. Speak the words that lift and support. Offer a shoulder, a helping hand. Give your time. Give anything you can give. It does not have to be money, there are hundreds of ways of reaching out and lifting someone’s burden.
We have so much power to change the world with just our attention, intentions and actions. One day we might wake up to that power and actually harness it. Until then, each of us has the ability to make a difference with your own compassion and your gifts.
I thank the ALS campaign for waking us up. I am sorry it has taken an ice cold bath to shock me out of my complacency. I am sorry that I took the easy path and journeyed far away from the painful memories to where I can pretend it never happened. I am here. My husband is not. His life stood for something. His pain was not something I can ever forget. I commit to doing more.