Tag: Research

Charlies Fight

This is very important to me and if you are a parent it should be very important to you as well.

There is a little boy in the UK with a rare Mitochondrial Disease that is being denied treatment by the government and the hospital that is caring for him.

The hospital is stripping the parents of their parental rights for this baby.

He was supposed to have his ventilator turned off last night at Midnight to die, but the parents have an appeal in with the Supreme Court who will make a ruling June 8, 2017, this is their last option.

The parents have raised the over 1 million pounds needed to transport him to the US to a doctor that is willing to try a life saving drug on him that has worked for other children.

There is a US Facebook Group where you can follow along called Charlies Army USA.

There is also www.charliesfight.org

Charlies mums facebook page is public:  Connie Yates

ITV London documented the parents fighting for their son you can watch the video here Charlies Fight

There are several petitions to sign, they do help so do it:

Petition 1

Petition 2

Petition 3

I would not lead you all down the wrong path, I promise.  Please take a few moments to sign the petitions and follow the facebook groups.

This issue and disease hits home.  I would have to die before I would let anyone tell me how they were going to care for my child let alone tell me they were going to kill her!

If you have any questions let me know and I can get them answered.

xoxo Desiree

 

 

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!!