care – Life is RADD

BIG NEWS ALERT

After 3 tough months battling the insurance company to continue coverage for Daphne’s medicine (N-Acetyl-Cysteine) that may partially reverse her disease…
I WON!!!
Excitement is an understatement 🙌🏻
My last update on this topic was winning the appeal to get a 3 month courteous fill to give me time to fight them, many hours on the phone with various agents, trying to figure out the right form and process, trying to get the doctors office to do their part because in the end I can do all the work except complete the final paperwork, so annoying but thankful they stuck it through with me and I will be sending them a sweet 🎂 treat for being so sweet (a little exaggerated 🙄), but my dad always taught me “you attract more bees with honey”!
A special shout out to Paula at the insurance company. I fell in love with the first agent I made an appeal with several months ago but Paula took it to a whole new level and really cared and took ownership in helping me.

You may think it’s easy but seriously some people and processes are setup just to be difficult just to make you quit, I swear.

Follow me for a minute here….

Believe me it’s true, in my own job I see it and even play off it ( sorry not sorry sometimes) so that is just the case in other careers as well.

One thing that has always given me the edge to not giving up are those people that say “Who’s going to own it? Are you going to own it?” They are saying this knowing good and well they should be the ones owning it but you being the better person, steps up and says, yes I will.

In the back of your head your doing this, because 1. You’re so good at it 😜, 2. You will learn valuable lessons along the way, 3. At some point in the future it will benefit you.

So thank you to all those who have done this. You have gotten me to this point. Thank you for teaching me how to help others want to do this as well. My rule in dealing with the insurance folks is to be nice, courteous, understanding, listen, be realistic in what I am asking for and take ownership of the issue. Paula did all of those things and more. She called me everyday when she said she would, to check on the status and she made the final step to get this approved happen! Paula my dear, you have just made my dreams for Advocacy for Daphne’s Lamp a reality.

I think this shirt was made for me and every other Mito mama I have met!

***It’s not my most glamorous picture but I will be honest I am usually in pajamas by 6pm and tonight squirmy little Daphne would not cooperate very well but that’s my life.

This is just the beginning, I am going to D.C to meet with Congress June 29th and I will be pushing for the next big thing.

Until I have to appeal again in another year, I am making steps to make this fight even easier, stay tuned for those details.

This is for my daughter Daphne and what the future of those involved in with #daphneslamp will look like. I don’t take NO for an answer and I will put up one hell of a fight, so get ready. Get on board with the movement it’s going to be BIG!

#mitostrong 💚 #daphnestrong

One thankful and Happy Mama tonight 😊

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

Ear Tube Surgery Update

Daphne’s surgery went well, so Thank You for all your thoughts and Prayers!

She was quite pissed at the Nursing staff yesterday for touching her even if it was just to put an ID band on her, so you can imagine when they had to take blood for testing it did not go well.

All the Pre-OP precautions takes longer than the actual surgery which was less than 10 minutes.

In the recovery, Daphne was just as mad if not even more so since we were not with her when she woke up but we were very soon after. She took a bottle, ate some oatmeal and banana and we were discharged by 10am.

I hope that the tubes work and she can be infection free!

xoxo desiree

Pre- Surgery Photo

Prayers Needed

For all you prayer Warriors out there I would appreciate one for Daphne on Monday she is getting Tube Surgery on her ears.

She has been suffering from ear infections almost weekly and we had this scheduled once before but had to cancel it because she got croup.

This is a standard normal procedure for normal kids but for Mito kids the stress of the anesthesia, surgery can all throw her Mitochondria into a panic.

I had to dictate to all docs involved how it is going to go and I will still have to make sure the pre and post op bloodwork and drugs used are all kosher, since they screwed it up for her last appointment. Geesh, healthcare these days is bad, bad. Once I calm down from the week I had I will write about it but write now I have nothing nice to say, so I won’t say anything at all.

Geographic What?

Well 2017 has not been so kind to us health wise…yet!

I got sick New Years Day and I am still sick. All of southern California I think is sick with the same crud.

Bleh!

Daphne has been feeling meh for the past few days and it turned into something yesterday with a cough, and low grade temp.

Yesterday evening she spit up at therapy and then after she woke after going to bed for the night puked a little of her dinner up but then ate 3/4 of a banana and was wired for hours.

Till about 1am that is. Luckily it was Rich’s night [insert snarky smile]

He said she had trouble breathing, swallowing and coughing and her temp was still hanging around so off to the doctor we went today.

Croup!

A little oral steroid and hopefully a couple days of rest and she will be ok. Fingers Crossed!

We have a very busy weekend ahead and actually for the next couple of weeks so we cannot handle a sickness slowing any of us down.

Adelaide also complained of sinus pressure last night and that kid is the one that can really not get sick since the craziness involves her…

Soccer Tournament Two Weekends in a row with a Cheer Competition in San Diego Sunday..she needs to be in tip top shape (literally)!

She is not a fan of the Neti-Pot (I love it!) nor does she like the steam inhaler thing, so a little vicks, saline spray to clean her nose and off to bed she went, can we say Placebo effect?!

Hopefully she just wanted some attention from the rest of the sick folks in the house. Rich has this as well but not as bad as Daphne and I.

While at the doc getting examined I asked again about her tongue the red spots and white areas and that I cannot brush them away but she does not seem bothered and the doc said you know I think she has Geographic Tongue… ummm what?

Well it sounds right and the pictures match up to Daphne’s tongue and the side effect is sensitivity to salt and acidic foods…..ding ding her mama has this as well. I do not have the splotches as much as Daphne but I cannot handle salty food AT ALL and acidic bleh. Probably why I have not loved fruit that much. It makes my mouth RAW.

This is normal and nothing to be done about it just avoid the foods that bother you.

We are sensitive gals, what can I say.

Any tips you have for good organic, non gmo, no sugar, no crap vitamins (gotta stay with the trend)or steps to boost your immune system, I am all EARS!

xoxo Desiree

Pirate Baby

It’s not like she doesn’t battle with enough.

Daphne had her follow-up with the Neuro-Ophthalmologist this week and I wanted to discuss something we noticed a little over a month ago that we just called “Wonky Eye.”

We talked to her regular Neurologist about it but he could not get her to repeat it which was good because it was minimal but it has been more apparent lately and I even grabbed some pics to show the doc in case she could not get her to do it.

Now she has what she calls drifting outward which is common in patients with neurological conditions.

So we will try to correct it and strengthen each eye with Patching Therapy (1 hour per day per eye), maybe glasses but right now she will rip them off and eat them…..ABSOLUTE last case scenario is surgery. We will follow-up in 2 months to check her progress.

I have ever said I HATE HATE Mito and wish it did not exist. This is simply not fair!

Wonky Eye on the Right

Go to

I have been very busy lately and have not even checked the Hypotonia Group I am a member of but amazingly enough when I do there is ALWAYS a post that pertains to a thought or an immediate need I have.

A mom posted about this product and I think it is so clever.

I am can’t wait to get one and try it out. They have some other really great products on there as well. I love this as well (so versatile and compact).

I get really irritated when my husband and daughter just lay Daphne down next to them while they do something else like watch TV or read a book.

I keep telling them she needs to be upright to play not laying there like a vegetable. She needs to be engaged and interacting and learning as much as possible.

Of course just laying her there is easier because she can’t scoot, fall over or require much attention.

Don’t get me wrong there is a time and place for laying flat and floor play to help her rollover and push up with her arms but, not on the couch or the bed. Those surfaces are too soft for that.

I hope you can share this site with other families that may benefit from this.

XoXo

Desiree

Mito Family Social

Rich and I will be hosting a Family Social for those with Mitochondrial Disease.

This is going to be hard to meet other families, face to face, who are going through this.

Right now we don’t know anyone else. I have talked to some families online but this is going to be in PERSON!

I usually love these kind of events and networking and talking, it’s something I am good at, but I have to say I am a little nervous. Rich is not looking forward to it, this is not in his wheelhouse at all but we’ll get through it and I’ll report back on how it was.

So I have a favor to ask.

I know my blog has a lot of traffic. I am talking almost 5,000 views and 1,000 visitors since it was created in May. That is incredible and I feel absolutely blessed to be spreading awareness about the disease as well as sharing things about my family.

I would love it if you could pass the blog along to more people and to hopefully reach families dealing with similar issues even if not Mitochondrial because a health condition with your child is never fun or easy and you need as much support as you can get.

I would love to see a large attendance at the event and I am certain you can help.

Thank you so much for being loyal followers!

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!!

NeuroMet Appointment

Well yesterday was the day we went to the NeuroMetabolic Clinic.

We were asked to arrive about an hours earlier than our scheduled time to complete consent forms and get bloodwork.

Poor Daphne had to fast for 4 hours, turned it to about 5 by the time they did her draw. She was a trooper through that even though she missed her favorite meal of the day…breakfast.

Don’t worry, I packed up her stealcut oatmeal and cantaloupe so she could eat right away.

I hate her getting bloodwork, only 1 time out of the several times she has had it, has it been a good experience. I mean her getting poked once and the vein found right away.

This time the phlebotomist came to the clinic so we did not have to go to the lab. I learned some things from our past visits that heat packs help the veins be more visible and larger and sugar water helps distract her a little from the poke. So I asked the genetic counselor to have those items for us since the lab always gives us a hard time depending on who we have. The lab did not disappoint with their attitude and lack of smoothness. The counselor even got annoyed after they poked her and dug around and had another guy look all while keeping the needle in her skin to say the vein just keeps moving. The counselor even asked if they should call another guy who they call the vein expert, they were a little annoyed which j think motivated her to get it right the next time. So they poked her other arm and got it first try. The counselor expressed her frustration to be about the techs and being a children’s hospital and you should be an expert, blah blah, the exact same things I have said. I even told her I have asked about a vein scan and they said they didn’t have it and she told me they were lying and to demand that use it the next time.

One of the perks to being a regular at the hospital is learning all the tricks to make your visit easier.

After the exhausting bloodwork Daphne had breakfast and a bottle while we talked to the NeuroMet Team (Metabolics doc, counselor dietician, nurses and neurologist). They asked about all the changes from our last visit and then the Neuro examined her since this was her first time meeting her. The neuro is the only one in her group that visits the the NeuroMet clinic so she will know Daphne well. She was pleased with Daphne’s head control, her tracking and progress that we reported. We were told Daphne has a good Corpus Callosum (a broad band of nerve fibers joining the two hemispheres of the brain) where other Mito patients and maybe specifically with her disease have abnormalities so that is something to be happy about!

Many many questions were asked and answered as well as a lot of science talk that I try to stay engaged with but they have a way of going way, way above my head, so at that point I start playing with a restless Daphne swinging her, talking to her in the tv which we pretend is a mirror and get her laughing and everyone starts watching her. I try to distract her a little so the docs can see her real personality and not the mouth hanging open veggie state baby that people she does not know brings out in her.

It’s her camera face aka paparazzi face similar to what Kim Khardashian posted of her daughter 😂

Next we met with a metabolic dietician and she did not provide any help at this appointment stating there is nothing documented in science that shows it helps. We have read a variety of diets, certain food groups and organic options that parents think help their kiddos, so I think a balanced diet is what we will stick to and seriously it’s not like she eats fast food or Mac and cheese and chicken nuggets. She is mostly veggies with some meat and fruit. If I ate the way she does I would be trim, but of course I can indulge in all the yummy fats she is not interested in.

If anyone reading this has any tips or favorite meals that are kid friendly (flavorful and homemade and relatively soft) leave me a comment please. Every weekend when it comes time to plan the weekly menu and go to the grocery store, I get stressed out! I love to cook, but finding he balance in what is good for Daphne and suitable for her two teeth (now 2 in fully and 2 half way in and 2 more poking through) and Adelaide and Rich and I who do not want not do we need to eat pasta that much!

We saved the dreaded skin biopsy for the end of the appointment. 😢

As a parent you can dig down and find an incredible amount of strength that you never knew was possible.

To hold you baby on her side while the Doc preps her leg for a surgical procedure, was not easy. She started crying just from him scrubbing her leg, before the bad part even started.

She did get a numbing shot that took foreve to get, stung really bad and I know hurt because he only poked her once but kept having to move the shot around to numb the entire area. I asked for him to go slow so it would not sting as bad and he said he would but due to the needle being so small, like a diabetic needle the lidocaine shot out in a stream not an easy drip so even if he went slow it would not always help. Argh!

I tried to maintain my focus on Daphne with my face mask on and play her favorite song, Farmhouse by Phish, and pacifier and her one and only game she likes but it only helped a little.

When the time finally came for the punch biopsy she did not feel it, thankfully. I watched them pull the little piece of skin out and put a piece of gauze over it and a clear sticky almost like ceran wrap bandage, that we get to remove today, and then he pulled the surgical cover off her leg that did take her skin off in one area. Poor bugga. She did scream and not like the antiseptic cleanser and the pressure from him applying the gauze. He said today we can just put a band aid on it but I don’t know how I feel about that. I will make that decision once I see it and luckily our friend and neighbor is a wounds care nurse and my dad a surgeon who always taught me (even though for years I swore air was better….yeah better for a scar!) that moist wounds heal faster and better!

All in all I think the clinic setup is good to get all specialists in one room together.

We DID meet the medical director of the group and he will be the main guy advising on supplements.

On the long list of inquiries we made about supplements, right now we plan to start a new supplement, N-Acetyl Cysteine, I will post about this soon. This supplement apparently smells and tastes like rotten eggs (oh great!) should be easy peasy to get into her.

Not!

We ran a blood test to get a baseline for this supplement that will go to Cambridge and then Stanford. The two places test different areas to get a conplete picture.
The skin biopsy will be studied at our hospital, a place in Cleveland and a place in the UK (post on this soon) and then some frozen for any future study we happen to find out about so we can grow some more fibroblasts and send it off without having to go through this again. That makes me very happy.

Of course we came home from the hospital with a sleepy baby and fed her a little lunch and gave her some Motrin to help with pain and swelling and Daphne did not sleep a wink, she has had Motrin one other time in the past and I think it did the same thing to her. A day where she really needed to sleep and we needed her to sleep to catch up on work, did not happen.
Daphne was up a lot the night before, feeling yucky I thought from teeth and probably so but also developed a cold. Her eyes were drained yuck at an incredible rate yesterday and this morning her eyes were crusted totally shut. Ugh! We were just off last week mostly with Adelaide being sick and now Daphne when she is going to be recovering from her procedure.

Off the the doctors we go today and fingers crossed she can make it a couple hours at the babysitter so we can get some work in and not get fired from our jobs for taking care of sick kids!

Here is my little sick bugga and her poor little leg