Rare Disease Day


Today is #RareDiseaseDay.
My heart has changed so much since her diagnosis and I want to make a big impact. I want to make a change that is not just talk but is actually doable.  
Stay tuned for those details to roll out soon. (If you are interested in helping let me know).

So far I have just been doing my best to reach out to families who are dealing with rare diseases and teach them how they can be the best advocate for their children.


I love these two statistical photos and my mission is hidden in one of the facts.

*Rare Disease affect more people than Aids and Cancer Combined!

*95% of Rare Diseases do not have an approved FDA approved Drug treatment

#CareAboutRare #WRDD2017 #RareDiseaseDay

xo desiree

The Insurance Fight

For those of you that are reading this and are not living and breathing the many struggles of the Mito World, here is a little explanation as to why this post is so important to me:

There is no cure or treatment for Mitochondrial Diseases, so drug companies rarely spend the dollars to research drugs that will help improve the lives of those living with a Mitochondrial Disease.  This means over the counter vitamins/supplements are the only options for the “Mito Cocktail”.

Today I had some time and decided to pick the “fight” back up with the Insurance company that I started Jan 1 when I tried to REFILL a prescription that I had been getting for months for Daphne.

Dec 2016 the Rx was $0

Jan 2017 the Rx was $50

We could get a similar drug over the counter for $15 but it is 500mg and Daphne is prescribed 300mg.

Your probably saying not a big deal just split the capsule and call it a day.  Yeah we did that until I found a compound pharmacy to make the EXACT dose that she needed and ladies and gents I worked hard on that so I was not going to be told different now in 2017.

*Note a capsule cannot be perfectly divided as the contents inside are not guaranteed to be equally distributed.  So you see my driver here?  I want it to be perfect for my child, she deals with enough crap we cannot control, this I can.

Well I had a great experience with Gloria from Georgia at the end of 2016 figuring out why insurance would not cover this drug and how the pharmacy was running it incorrectly and how a filler they use was not an allowable cost and she got the pharmacy to just give me the $9 filler for free.

*Note I have a little history with this pharmacy, they screwed up a very, very expensive prescription for my dog and I did not flip out on them so yeah basically they owe me big since they didn’t lose their license over that.  My only comment with a smile on my face was, good thing it was just my dog and she is still alive and you know my daughters Rx is filled here so don’t screw that up or we will have a problem, love mama bear.  So yeah I basically get whatever I want from them.

So when I started having issues I wanted Gloria back but Jessie didn’t want to give her to me and he wanted to help and said I understand and will call you back in 45 minutes.  Over a month later and yeah I was real busy in that time….nothing from Jessie.  Don’t worry Jessie I will never ask for you so you will never have to deal with me.

Today I called and spoke to a few people and a few different numbers and was frustrated as this was not how things were handled in 2016 and then had to hang up on them when a coworker came by (probably someone watching out for me above did that) and so I called back and spoke to the most lovely of humans and I forgot her name.  Anyhow she was with Express Scripts within our insurance.

Lovely lady in Express Scripts let’s call her “G” walked me through, answered all my questions, probably appreciated my knowledge to date and gave me the tools to be even more informed and have all kinds of access at my finger tips.

  • I learned my In Network out of pocket max (OOPM) which includes Prescriptions not just Medical ( I did not know that, you will see why that is important in a min)
  • I got access to express scripts online which shows me the out of pocket stuff, all prescriptions filled and the cost since we have had the plan, mail ordering, etc.
  • I learned that the drug in question was $0 to us in 2016 b/c our out of pocket max of $7,000 was met (I took a big gulp and said what, wait, how, I did not pay that much)*
  • I learned that our doctor can call in a larger quantity of her prescription and I can get more for the $50 for now until our OOPM is met.  UMM YEAH!
  • I also asked how I can get other supplements we buy that are not a prescription to go towards our out of pocket max and its simple….well kind of, our Doc has to file an appeal on our behalf and ask for an exception to include the cost of the over the counter meds towards our OOPM deductible.

*You may have known this and maybe I did since I answered the questions that I asked but basically if you get a RX filled that costs $5,000, insurance pays $4,000 and your EOB says you owe $1,000 (eventhough we never pay what the EOB says) that $1,000 goes to my out of pocket max.

SO….I called her Mito Doc Nurse, explained my craziness, she was excited and said let me put the request into the doctor.  I am asking right now for a 3 month supply for the $50 versus the 1 month supply and I also asked for him to appeal the ubiquinol and for him to provide a larger quantity for the other Rx she gets so we have a buffer.

I am going to UMDF on the hill this summer and didn’t know what or how I was going to talk to our congress person about health care, insurance and prescriptions and present and defend something that is obtainable but I believe this is it.  This is one step to helping Mito Families.

To get Over the Counter Vitamins and Supplements to count towards In Network Out of Pocket Maximums!

The company I buy Daphne’s Ubiquinol (CoQ10) from is fighting the Mito Cocktail be covered by Insurance so I am sure this will be a start and have some backing.

The ultimate message here is:

Don’t give up or give in, talk to people, talk to doctors, talk to your pharmacist, talk to the insurance company to learn as much as you can.

Be polite and nice, it’s never the person on the other end that made health care the way that it is, it is however their job to ADVOCATE the best that they can for you.

My dad always said “You will attract more bees with honey”

I am not a person that is easily defeated, I do not take NO for an answer.  There is always more than one way to skin a cat.

There is only one person that will be the best Advocate for your child and that is YOU!

xoxo desiree

 

 

Pinterest

How many of you are obsessed with Pinterest?

I used to be but rarely have the time for it lately.

I can always count on it being there for the last minute school project, gift wrapping or if I need dinner fast recipe.

I honestly don’t remember what I did before Pinterest.  I remember when my friend introduced it to me and I thought she was nuts and it was so time consuming and she was so proud of me when I started to “pin” things.  Now it’s like my down time.

Pinterest has given me the ability to be that mom for my oldest daughter.  Seriously though.  School is tough and challenging and all the moms are on Pinterest. A simple party or cookie doesn’t cut it anymore.  You gotta have it ALL together.  Most of what I make probably looks like a Pinterest fail but it’s the fun I have with my daughter when making the ridiculous crafts or recipes that I cherish.

OH and I told my daughter I better have a perfectly planned Pinterest party when I turn 40!  She has a few years yet, but she better step up, I don’t want any straight edges on my hearts or circle cutouts 🤣

XOXO “That Mom”


Army Crawl

We take Daphne to PT 4 days a week. 

Since she is able to sit for a couple minutes unassisted her therapist has moved on to teaching her how to army crawl.  

I have tried but felt like I was just getting her in a frog position and she was trying to move her arms but her mama was failing guiding the legs.  

Here is a short video of her therapist showing me how to do it, this is at the end of her session so she is a little tired.

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Trendsetter

This child is such an inspiration.

I hope she doesn’t turn into that teen that hates me.  I am going to work really hard to not let it happen. I know it can happen. I see it with some teens of my friends out here.  I will have to ask for the secret.

So when I was in 4th grade I shaved the back of my neck, apparently it’s called and undercut these days or maybe that’s just for boys, Pinterest said Nape, so I don’t know.  Anyhow, I  don’t remember any of my friends doing it with me, or maybe Erin did?  I don’t even remember if it was a thing, I remember standing in line for role call to class one day and kids asking me about it and me being annoyed that I was in the middle of the line with an L last name and not at the end with my friends who had R and an S last names and that was it.

So when my hair dresser did it on a few clients I showed Adelaide and she thought it was great and wanted to do it.  I let her think about it for months really, I have never really let her do anything with her hair, I mean she is only 9. I just let her dye her tips over Christmas with Kool-Aid because her good friend Alex did it and I thought it would be a good memory to share together, which by the way was only supposed to last two weeks and she still has it!  Lesson learned but she loves it and a couple of friends out here copied and she loves that. Can we just take a minute to think about how nasty and bad Kool-Aid is if it dyes hair permanently, what your insides must look like or even worse how it can eat away at whatever it wants. The only Kool-Aid she gets is in her hair. 

Ok so today was the day, this girl has some balls I tell ya!  

None of her friends have done it, I don’t know that any of them will and where it is just hair and will grow back, she will have this for a few months and will have to own it. 

I am so happy for this.  I hope she can continue to make her own path.  In the current unknown times we face and as a friend of mine said I hope she  continues to “Be the change that she wants to see in this world.”

Rock on Baby Girl

XOXO Desiree

A Day at Disneyland

Disneyland is not my happiest place on Earth!

My parents visited Disney for like 12 years in a row starting when my oldest brother was 2 weeks old. Bleh! Having kids of my own, I cannot imagine walking around in the heat of August 2 weeks post partum.  My poor mom.  My freshman year of college my parents decided to go to Disney for Christmas. I was so annoyed, I went to my grandparents.  Then in college I worked at Disney World in Orlando, Fl as a Lifeguard at Typhoon Lagoon.  It was rated to be the most prestigious Co-op for Marketing majors, Michael Isner the CEO went to Northeastern and built the luxury dorms on campus, so okay I went.  Well, my experience in Co-ops let me know exactly what I did not want to do ‘when I grew up’ and definitely how I did not want to treat people.

Every once in awhile I have to suck it up and go.  We only live 20 minutes from Disneyland and I consider myself lucky to have only visited 4 times now in 4 years.  Two of those visits I was very pregnant, not my smartest move.  Now my husband got to tag along for the first time since we have lived in California! I am not sure how he has gotten so lucky.  Just to pay him back, he had to go on all the rides and I hung with little Daphne.

Adelaide got a friend ticket so she could pick whomever she wanted. She picked a sweet little girl she has played soccer with twice on an All-Star team. This little girl is afraid of heights 😳. I did not even know how to handle that, but she had the best outlook and said this is Adelaide’s day and I want her to enjoy it and I will do whatever ride she wants. I wish all kids had her attitude.

Daphne surprisingly did really well, she lasted all day without a nap, ate great and was not too freaked out by the noises.

At the end of the day all the kids had a great time and Daphne had her 1st visit to Disney.  We do it all for our kids!

XOXO Desiree

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Proud of My Girls

Both of my girls this weekend accomplished something and succeeded at something they have never done. 

This is something every parent wants to say and experience. 

You may look at these two videos and think they are on different scales but they were equally hard for both with all factors included.

I will never smile bigger than when I watch my kids do something amazing. 

I hope this makes you smile.

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xoxo Desiree

Follow-up on Gluten

Back in August I wrote a post on “To Gluten or Not to Gluten” and promised to follow-up.

Trust me when I say I have been reading and asking and looking and posing questions to the doctors and just now got somewhat of a direction.

The skeptic in me, tells me this will change just as the advice on when to give peanut butter does but for now this is what we know….

Daphne does not and should not go Gluten Free.

The diseases that are autoimmune diseases (type I diabetes, celiac disease, and multiple sclerosis, etc.)  benefit from this diet but Daphne does not.

Whew…thankful!

xoxo Desiree

Twenty

I am so excited!

Honestly it’s almost better than the unsupported sitting.

Almost!

Daphne has FINALLY reached 20 pounds!

20 pounds 4 ounces to be exact

This is a huge feat with her disease and with all the sickness she has gone through recently.

She lost over a pound just a month ago which set her back to 18lbs.

Keep praying, sending good vibes or whatever you believe in because it is working.

As my mom says “Daphne is writing her own book!”

The other big part of this weight gain is I told the pediatrician we would start vaccinating again once she hit 20 lbs.

When we received her MRI results and diagnosis we stopped vaccinating do to the unknowns of how the mitochondria handles vaccines, especially the MMR (eek, just saying it freaks me out!)

I have always given both of my kids one shot at a time with plenty of time in between and this restart will be no different but things are going so well I hate to risk it.

I just love our pediatrician, I scheduled her shot appointment for next week with another doc b/c our normal doc was booked for the rest of the month and we are going to Disney at the end of this month and wanted to get the shot in her before visiting that cesspool of everything and I just received a call that our normal doc has made time for us since she knows Daphne best and would like to be the one doing the shot appointment.  Good Doctors ROCK!

Wish us Luck!

xoxo Desiree

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