Awareness

September 18-24 is Mitochondrial Disease Awareness Week. 

The question is, who and why are we attempting to raise awareness of this disease?

This question prompted me to do a little bit of research….why DO we want to raise awareness?  Why does any community attempt to raise awareness of their disease or affliction?  What is the goal?  Why does anyone, other than those dealing with the disease, care that others know more about it?

Some of this, I already had the answers for. 

Raising awareness increases understanding, at least theoretically.  If you see my children and hear they have Mito, how can you possibly understand what that means if the term is new to you?  Or, even if you know what mitochondria are, or I have shared my quick mito tutorial, how does that equate to understanding why today they seem to be doing “well”, but tomorrow they could be having big issues?  In this case, raising awareness has the potential to increase the understanding of what this disease entails on a day to day basis.  Sometimes that means a lot.

However, there is a bigger picture here.

In today’s age of social networking, there is the potential that your awareness of this disease might be passed on to someone else that needs to know more about it.  Whether that’s a family searching for answers for their child’s issues….a medical professional with a complicated patient that they have run out of answers for….or a neighbor questioning whether there is really something “wrong” with the child next door.  Your awareness could lead to someone, somewhere becoming involved with finding answers.  So, awareness plays a real part in the future of the understanding of this disease, finding treatments & cures, and easing the heart ache that comes with it.

I found an article that, while generic to raising awareness of any disease, points out some important points to consider.

The title includes the following:

“More care is the ultimate goal.”

It goes on to say that generally the goals of awareness campaigns are to reduce stigma, get more patients treated, make it more likely that physicians know what they are facing and convince researchers to tackle the unanswered questions.

“If you can help one person have that conversation with their physician – not feel alone, not feel out of control – you’ve really benefited society. “ says Suzanne Goss, senior vice president at Y Brand, a healthcare branding firm in New York.

While mitochondrial disease is still considered by many to be a rare and relatively unknown disease; that is changing quickly.  Each year the estimates of the number of people with mitochondrial disease keep increasing as the medical community learns more about this disease.  Part of the reason for this is that this field of medicine is so new.  It was just 15 years ago that scientists first linked a mutation in mitochondrial genes to a disease.  Today, with over 120 defect-causing mutations identified,  and new research revealing how the defects in the mitochondria trigger a wide variety of medical problems, more and more focus is being placed on the role the mitochondria play in keeping our bodies functioning properly.

Studies now suggest that when you combine the number of people that have defects in the electron transport chain with those patients with other diseases of the mitochondria such as CPT-II, carnitine transporter, MCAD, SCAD, LCHAD/Trifunctional protein deficiency, LCAD, pyruvate dehydrogenase, adenine nucleotide transporter, Freidriech Ataxia, mitochondrial DNA mutations, TCA deficiencies, and glutaric acidurias, the number of people suffering from mitochondrial disease is somewhere in the 1/1000 to 1/2000 range.  This would make mitochondrial disease the most common disorder of metabolism currently known today in the medical field.

Currently, there is no cure for mitochondrial disease and even finding medical treatments is a challenge.  Today, there are no FDA-approved drugs targeted specifically for mitochondrial disease.  Doctors are left with prescribing vitamin cocktails to boost cell function (which may or may not have an impact), along with making suggestions about diet, avoiding stress and extremes in heat or cold,  and providing medicines that can only treat the symptoms but not the underlying cause.

Research is beginning to produce some marginally encouraging results and while a cure is still many years away, doctors are focused on educating others so that the disease will be identified more quickly as well as, finding ways to provide better patient care in addition to identifying new research techniques that will one day assist the medical community in coming up with a cure. 

Patient care needs to be at the heart, and research at the foundation of any center taking care of Mito patients. These centers need to unite the three essential elements of medical progress- diagnosis, treatment, and research. In most medical centers around the world, these three elements are isolated because the individual physicians and scientists are all working toward separate goals. The physicians and scientists need to all be working toward a common goal- to understand and develop more effective treatments for mitochondrial and metabolic disease. This is accomplished through a unified program of patient care. basic science. and clinical research.

When a child is stricken with a catastrophic disease, it can take weeks, months, or even years before the diagnosis of mitochondrial disease is reached. Many children die before the correct diagnosis is made. A second child in the family is sometimes tragically affected before the possibility of a metabolic disease is considered. While most physicians can easily recognize cancer when they see it, very few physicians are yet able to recognize mitochondrial disease. Moreover, very few medical centers are equipped to offer the specialized diagnostic, treatment, and research facilities required for the comprehensive management of children with mitochondrial disease.

The question becomes, why should adults be concerned about Mitochondrial Diseases of children?

The diseases of aging outnumber mitochondrial diseases in children about 5000 to 1. But from a scientific point of view, the chronic diseases of aging are very complex, so complex they are hard to study. They take 20 to 50 years to develop. During that long period of time, every adult has been exposed to many environmental agents that may increase his risk for disease. The task of sorting out the causal factors from the incidental is very complicated, and sometimes impossible. For those doctors that have treated both children and adults over the years, they are struck by the great similarity between some of the childhood disorders of mitochondrial metabolism, and many of the much more common diseases of aging. This clinical similarity suggests a common cause.

Children give us the opportunity to see the causes and consequences of mitochondrial disease with a clarity that is not possible in adults. Because children have not yet lived long lives, the list of factors that must be considered in discovering the precise cause of their disease is much shorter than the list of factors for a similar disease in adults. Clarity in science leads to new insights. For these reasons, many of the freshest new insights into the diseases of aging will come from the study of the young. Moreover, physicians and scientists feel that when effective therapies are developed for children, these therapies will also be shown to be effective in treating similar disorders in adults.

In rare diseases, ultimately awareness is the greatest tool we have to fight with. 

Will you become aware with me this month?  My children, my family thank you for it!!

Special Needs

Merriam-Webster defines “Special Needs” as:

: the individual requirements (as for education) of a person with a disadvantaged background or a mental, emotional, or physical disability or a high risk of developing one

—   special–needs adjective

I honestly went to look it up because I was suddenly not totally sure I knew what the term fully entailed. 

Kat’s Café is a blog I found not all that long ago, and I have enjoyed the writing, and applaud this mom’s commitment to advocacy.  She announced a Blog Hop a while back for the special needs blog world, and I immediately thought I’d like to be involved.  The thing is though, while there was a long time when I would have used the term “special needs” for the kids, I realized I have not actually said those words in some time, but wasn’t totally sure why.

It wasn’t something I consciously quit using and after some thought, I think I am more apt to use the term “medically complex” these days, but WHY??  What has changed really??  There was a time when it was a term used regularly when it came to my children, very appropriately, but what changed was the “audience” if you will, that I was more commonly talking to. Slowly but surely, over the years, our audience changed, and with that came a change in terminology.  When the kids were in school it was the term that was used.  When they were still in physical, occupational and speech therapy, it applied.  But at the point when we had been home schooling for a while, and we finally stopped therapies after years and years of going, we started dealing with the medical people in our lives more, and with that came a change in our “label”.

I think the other thing that changed and perhaps played a part in this change of terminology, is that at some point the kids developmental issues were overshadowed by their medical issues.  This happened in part because their developmental issues improved, and in part because the medical issues became more pronounced. 

According to the definition, the term “special needs” still applies to my children, as does “medically complex”, but really, when all is said and done, applying labels doesn’t really define WHO my children are, and perhaps that’s what has really changed in our world.  We find ourselves less frequently needing to label them in order to get help, and thus, can now start talking about WHO they are and what makes them each unique.  We can use other “labels” like “quirky”, “old soul”, along with lots of awesome descriptive terms that, in the end, really gives you an idea of who they are and what they CAN do.

I have no issue with labels….they are still needed sometimes, even for us.  They allow you to define the issue at hand in a concise way that others can understand quickly.  There is much to be said for that!!  Especially when attempting to navigate the “system”. Labels are useful tools, and while I know some have issues with “labeling” their children and what that might mean for them in the long term, I’d suggest that in our experience the labels were useful for the time when they were useful, and then they fell away as they became un-needed, or no longer helpful.

Perhaps though, what really changed is that my children grew and matured; and ultimately made it clear to anyone that knows them that they, and they alone, will define themselves in this life. 

In the end I realized that I really wasn’t in that place anymore to be a part of the blog hop.  For a myriad of reasons and blessings, my contributions to the special needs world just doesn’t  amount to much anymore.  And I am….really okay with that.

Lessons

I’ve been thinking.

Every single parent of more than one child hears it….the bickering that happens between siblings.  For those that don’t have teenager’s yet, I hate to tell you it gets worse in some ways!!  They create an art form of pushing each other’s buttons!!! My guys really are pretty awesome in this respect, and while we go through spells where everyone is rather short with each other, they really do well together considering the amount of time they spend in each other’s company.  However, it happens often enough.  Generally when I walk into the situation and attempt to piece together what has occurred, I hear what most of us have…..”he/she made me”…..”but I only did that because he/she did what they did”…..”he/she did it first”.  Essentially, a lot of  excuses are made for unacceptable behavior.

I remember a time when I was this reactive too.  When I felt justified to say that had so-and-so not done such-and-such, I would not have done what I did.  A time when I guess you could say I was controlled by my emotions, rather than me controlling them.  I have no doubt in my mind that my mom attempted to teach me otherwise growing up because it was not something I had a big issue with, but I wasn’t AWARE of the choices I was making, not really.  I was just reacting.

It was in the year or so after Madison was born that I had a bit of a revelation.  Michael and I had been struggling in our relationship, more intensely than every before or since….I had two small children at home and the youngest was having some health issues that we didn’t really understand yet….and I was unexpectedly pregnant with Abby so very soon after having Madi.  It was a bit stressful.  All of it.  I know prior to my revelation, I was a reacting fool.  I am sure of it.

I cannot tell you how it came to me, but as I analyzed things (as I am apt to do), it occurred to me that I have a CHOICE in how I respond to other people and circumstances.  That Michael could not MAKE ME yell & scream and fight with him….that the kids could not MAKE ME short tempered….that no person or situation could MAKE ME respond in any way.  I am sure I knew this on some level, but I needed to make it tangible and real.  I needed and wanted that control. 

The revelation that I had complete and total control of my own responses and emotions was an intense discovery.  While on the one hand this conscious realization put more responsibility on me for my responses, it also gave me a new-found strength I hadn’t realized I was missing.  I could choose to be miserable and grumpy if I wanted to….and sometimes I just do…..but I am always aware of the consequences of that choice.  Most of the time, I don’t want to deal with the fall out…..getting to feel blah just isn’t worth it.  Mostly because it’s not worth bringing everyone down with me.

What I don’t think I could have realized at the time, and perhaps the coolest part of this, is that when I choose to be hopeful and joyous, it rubs off on those around me.  It’s just hard to be grumpy when dealing with someone who refuses to go down that road with you, but oh my how easy it is to follow the grumpy person down that path.

Honestly…..I fail at this regularly.  The idea of having a choice is awesome, but it IS hard to stay in that place sometimes.  I have bad days….I still argue with Michael now and again…..still am short tempered with the kids on occasion….still get my feelings hurt sometimes…..still do things I regret later.  I do though acknowledge that I know the path I am taking and the affect it will have on those around me.  And it does make me get it back together pretty quickly.

It is something that I think is pretty awesome that I can pass on to my children.  That they have the choice and that it’s ALL theirs to make. 

So, when I walk in to the bickering happening, the kids really do know what they are going to hear…..that their sibling is NOT capable of making them behave badly, THEY are making the choice to…..and with that choice comes consequences.  It’s not what they WANT to hear, but it does have an impact, especially when the consequences are enforced. 

I want them to know they have the option to choose their path, not just react to what’s happening around them.

What started as a concept that revolved around my relationships for the most part, at some point became a big part of how I cope with the exceptional life we have been given to live.

It would be easy, albeit miserable, to wallow in the difficulties that we face.  It’s impossible, and probably not healthy, to never go there.  But staying in that place, allowing the grief to overcome you completely, slowly but surely takes the hope and joy away.

My mantra has always been that all we can do is take each day and make it the best we can.  It won’t EVER be perfect, but I want to go to sleep at night knowing I made the choice to do all I could to make it the best it could be, whatever the circumstances are.