Facebook – Life is RADD

Mitochondrial Disease Awareness

Only one week in Sept is Mitochondrial Disease Awareness, this year its the 18th – 24th.

On my Facebook page I am making the awareness for the entire month as the number of people I have encountered are clueless on the disease.

I cannot necessarily fault them as I was the same way so I am going to take this time to educate all that pay attention.

My post today is simple….

What are Mitochondria?

Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.

What is Mitochondrial Disease?

Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.

Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.

Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.

Source: www.umdf.org

When you don’t know what to say…

As Daphne’s parents we now regularly experience the awkward situation of sharing Daphne’s story with friends or neighbors or co-workers. It’s actually not awkward for us. For us the story is well rehearsed, and it’s something that although will always be painful, we’ve accepted to some degree. But it is awkward for the listener. They are now instantly put in the position of having to respond to the most devastating news a parent could share, that their child has a serious rare disease. Nobody knows what to say.

A digression (Rich): when I was in college, a very good, lifelong friend of mine experienced the sudden and unexpected loss of his father. I thought a lot about what I would say when I saw him. Everything I thought of seemed so woefully inadequate that when I finally did see him, I said nothing.

My new perspective is this, saying something is always better than not saying anything. The text, “I’m sorry to hear what you’re going through,” feels inadequate, almost trite, to the sender. But it’s not. It means a lot.

People often say the wrong thing. Parents often feel the need to respond with their own child’s medical story, even if it’s off base. Somehow the story of your child’s frenulum isn’t quite on par with the fact that my child can’t use her arms. But, you’re concerned and engaged, and I appreciate that.

Now from Desiree: I have not publicized this as much as I do other things on Facebook and Instagram. I have a lot of “friends” from various walks of my life and some close, some not, but some that are always good about giving me a like on a picture or a comment so I still feel close with them.

I made a post on Facebook a couple months ago asking for thoughts and prayers about Daphne when she was getting an MRI. That post received a lot of comments and likes.

When we found out more about her disease I decided not to make a post for all to see and then jump on board to follow at that point, but for the group that cared enough to comment or like my MRI post and then to go back to it to see what I wrote.

Where am I going with this?

I have a lot a friends that I consider close and that I try to make an extra effort to stay in touch with since I moved to the other side of the country that have not reached out to me.

That have not sent a text, called or pinged me on Facebook.

It hurts. A lot.

I had a post about Criticism but decided to take it down because I got angry. A little angrier than I do in posts about the Doctors but I still believe in what I wrote.

I used to judge people.

I used to think there was a simple fix to most things.

I served a friend and coworker a piece of “humble pie” as a friend so uniquely called it and that person is angry with me.

Two very important lessons that I believe pertain to everyone:

you cannot change someone
if you don’t like something, remove yourself because you cannot make someone else do anything

*this does not apply to learning how to clean, cook, be helpful, etc. (men I am talking to you here 😉

So, we’ll leave you with this:

You can never completely understand what someone else is going through. But if you are being kind, compassionate and loving, your words are never misplaced.

Reversible

So my super smart, amazing research scientist husband spends just as much time researching Daphne as he does his job.

Don’t ask me when he has time for the rest of life.

Seriously he researches A LOT!

He found an article that I hope has changed our lives.

An article that I hope helps others.

An article that I have been so scared to mention it out loud, let alone write about it

…because something bad would happen (don’t ask me what)

…people would bombard the scientist

…maybe science would say too bad so sad it will not work

…our doctors would not believe in it

I was scared. I still am.

But I know the more science knows the better Daphne will be.

So here it is reversible

What is basically states is that there are 4 reversible mitochondrial diseases per her research. 2 fully reversible and 2 partially reversible based on a mild state and age diagnosis and some other stuff…..read it.

Daphne’s Disease is listed as partially reversible!

I mean when I read it and Rich and I talked about it I was so excited but then again contained my excitement so I didn’t jinx us or whatever else.

I met a Mito Mom who lives in Canada on a Facebook group I am a member of who told me to research articles and contact the authors to see what they know and to do the same with clinical trials since neither one of our kids are old enough to participate.

I said Rich this is what the Mito Mom said, you have to contact this doctor. So he did and she happened to respond super fast and was attending the National Symposium for UMDF in Seattle that we talked about going to but didn’t but we connected her with our Genetic Counselor so they could talk and meet.

We shared the article with our Metabolic Group and discussed the supplement N-Acetyl Cysteine which they wanted to discuss with us yesterday.

There are some GI issues that could come from it and maybe toxicity of the liver but she is functioning normal to date so we have to be a little careful with this supplement and will follow-up in 1 month to monitor her levels.

Also our San Diego Doc was just in the UK visiting her lab because of funding or a proposal she had requested. Small freaking world!

As our Metabolic Team stated we are now in a very small select group in the World and will get to know just about everyone associated.

My angry point of this post however is that the doctors (both the NeuroMet team and the San Diego Doc) did not bring up this article or any science from it and it was published over a year ago. RICH had to find it and really push them to explore this option.

This is even more justification that no matter how great of a medical team you have caring for your child, you are the only advocate for your child and much exhaust all means necessary to find a cure.

**This is exactly what I am talking about with all care not being equal and wanting to help bridge that gap for others that are less fortunate and do not have the resources or intellect to find this stuff out. I truly believe that is one of my missions in my baby being given this stupid horrible disease. I want to make this happen and do not want to be a website like all the others in memory of my daughters life.

I want my daughter to break the mold and defy the odds and science.

So the coolest part is the Doc in the UK recently received some money to study fibroblasts in the EARS2 gene mutations and she is willing to receive Daphne’s sample. I mean have any of you ever had this type of connection?!

Ok, maybe you have but don’t burst my bubble, it’s stuff like this that got me through yesterday’s procedure.

I hope and hope that she can find something to help Daphne and advance science. I have no idea on how long this will take. I will keep everyone updated.

There is another article on a suggestion of an intermediate stage and the use of another supplement but we are pumping the breaks on that one as we will wait approx 3 months before starting Daphne on anything else.

So you know these supplements are NASTY in smell and taste.

Two of them we put in her bottle and hide it with a combo of breast milk, formula and oatmeal cereal. We have tried oatmeal, applesauce and yogurt but to get her to eat enough to ensure it is all consumed is not fun, even if we do one bite.

Any tips for getting a baby to take them?

Thanks!!