UMDF Symposium – D.C.

Last week I had the opportunity to attend the UMDF Symposium in D.C., what an amazing experience.

The evening I arrived was registration and prep for Day on the Hill.  I really had no idea what to expect.  Upon arriving later than I wanted due to a delayed flight, I made it in time for the prep session in which we got a packet of information and were organized by regions of the country.  A few minutes into the welcome from the staff, I started to get a sense my perception of the day was not going to be the way I had thought it would be.  I opened the packet to find two pages of talking points and a group of named individuals that I would be attending meetings with along with the names of the Congress member and the person we were meeting with.  I was slightly crushed at this discovery, intimidated by the information, feeling like an undereducated Mito mom for not hearing of any of these issues and the nervous that I was not going to get my agenda taken care of.  I immediately was feeling defeated and sad that I left Daphne and Rich in California and was questioning my purpose.  Of course I kept this to myself and just tried to listen and focus on the job at hand.  I felt like a puppet of sorts for a great cause nonetheless but still not what I was expecting. 

I stressed that evening trying to read and understand the information, talked to Rich and mainly tried to calm myself down.


The next day, bright and freaking early for a Californian, WITHOUT Starbucks, I got on a bus loaded with advocates headed for the Capitol.  Ironically on the bus we were sitting in our group.  So I was also intimidated by Dr. Boles who was in my group and a well-known and respected Mito doc in California, near me.  We walked what felt like forever to the other side of the Capitol to the Hart Building and did not really prep much on what to say, grabbed some breakfast and waited to meet with Senator Feinstein’s staff member, Dr. Pete Curran.  I think everyone in our group was a little nervous, it was the first time for everyone and we really didn’t know each other.  We have brief introductions on how we are involved and then started with the scripted Asks.  Little did I know that my mission ran alongside beautifully with the UMDF topics so I was thrilled.  After our first meeting and having more confidence we realized our group was rock solid!  We had a Mito Doc, a mom of a 22yr old woman who is undiagnosed, a diagnosed and legally blind 42 year old that was just impacted 1 yr prior who also used to be Chief of Staff to a Govenor in Australia and myself, a mama to a beautiful 2yr old girl.  There wasn’t a question we couldn’t answer and not an angle that we couldn’t relate to.  Basically you go through the asks and depending on Republican or Democrat you have different requests and ways to approach a subject.  The hardest part was explaining what a Mitochondria is to those that were completely clueless and no fault to them because that was me over a year ago.  Each staff aid seemed to have different knowledge on the topics and thankfully the health care reform act vote was delayed so we could still have the day.  We typically had 30 minutes to give our presentation, pass out materials and answer any questions, not much time if you think about it.  We were asked to snap a picture from each meeting and #dayonthehill so they could get all the pictures. 


Next we met with Senator Kamala Harris’ aid.  He was clueless on what a Mitochondria is, did not even introduce himself and did not seem interested in anything we had to say but for this meeting we had a lobbyist with us and thankful for this meeting that we did, she understood him and he understood her so our portion was short and sweet.  I think Kamala may be too new and young to take a position on anything Mito related but I will try. 

Our next appointment required us to hike back across the complex, a portion of the grounds were closed due to we think a session being held and visitors and he new fad of protesting.


We were dropped off at Garfield Circle, walked over to Hart, then to Cannon and then Rayburn.  Once in the buildings the walls were long as well getting to each office.  I regretted wearing heels and noticed every single staff member had flats on 😩.  The underground tunnels were only available within the house and or senate but we could not take the connection between since 9/11.  The heat and humidity were unreal.

The aid for MiMi Walters was nice and engaging, hopefully we can make strides with her.

Our third visit was with Congresswomen Chu herself, this was exciting as it was our first meeting with the elected official and not an aid.  She was knowledgeable on Mitochondria since she had her PHD in clinical psychology so we could skip that part of our talk and just focus on the asks and a quick background on us.  The personal stories seemed to hold more merit then the science or the asks, but of course you couldn’t have one without the other.  She however only had 10 minutes for us.  The lobbyist prepped me on what to ask her to get to my local government to make my ask a reality.  I was so excited!!  Maybe this is a good time to tell you what ‘my ask’ was…


Mitochondrial Diseases’ do not have a cure or treatment or an FDA approved drug.  They are progressive and ultimately fatal.  This has created the issue of no interest in researching the disease or creating a treatment.  It would not be “profitable.”  However to slow the progression of the disease and make patients feel and function to the best of their ability the Mito Cocktail is needed.  This is comprised of over the counter vitamins and supplements.  Since they are over the counter, insurance e companies will not pay for them, although the dosing is significantly higher than the normal recommended dosing an adult would take.  So this alone makes it very expensive for families to afford.  On average families pay between $500-$1,000 per month.  My first thought for a ask was for these costs to hit your out-of-pocket max so a zero dollar deductible could be reached sooner for already approved tiered drugs so families could get a little relief.  After hearing a few days before this the long arduous process of getting a bill in place, I decided to focus on my other and more main ask and that is to get another bill in place like the one currently in play in Massachusetts, to have Insurance companies pay for the Mito cocktail.  It had been in a favorable position but has been amended a couple times and I believe this can happen in California and then make efforts for it Nationally.  Dr. Boles really explained why this was worthwhile versus going for the orphan drug expense that can be at least $10,000 per month. 

I was so thrilled that somebody I spoke to actually got it, most I mentioned this to looked at me like I was crazy. 

The day was going great and we were on a pretty good high, until our last appointment.

It started off rough, we tried to get in early, so we didn’t have to wait 2 hours, they would not even entertain us unless the Congressman’s constituent was with us, umm what?! Not once during the day did anyone ask that.  

This guy was a real special person, a very radical Republican who loved Ronald Reagan and made Trump seem normal.  Almost every inch of his wall was covered in memorabilia (mostly Reagan and 3 surf boards).  He told us he just turned 70 two days before.  He did not let us introduce ourselves, we were late getting in and he immediately asked what we were asking for.  We knew the approach to take with a Republican (cost savings) so Dr. Boles took that angle.  Our first request was for him to join the Mitochondrial Disease Caucus, he shot it down before we could even finish saying the name, he said caucuses are worthless and a waist of money and he would never join, “oh great” I thought.  Then we quickly mentioned the NIH and DOD efforts just to highlight, asked him to lead the NIH letter and he questioned us hard about it reallocation of funds for NIH and we explained it was not for that but just inclusion of he Mito community into the studies.  Next came the Medical Nutrition Equity Act and my specific ask and he shot those down, all of this talking was by Dr. Boles and his actual constituent was another Doc and she was silent in awe of his behavior.  He said he would never sign a bill that told Insurance companies they had to pay for something but would rather pay the $10,000 a month and have Medicare or medical pay for it, we were so frustrated and confused by his behavior.  He complained about government insurance and how hey had to switch to Obama care and it was expensive out-of-pocket for him, I was dying.  Then he told a story about when his daughter was 9yr old got Leukemia and went through Chemo and how much he paid and not to worry she was cured and was going to be fine.

I was seriously about to jump out of my seat in anger and could see the jaws on the floor around me and pulled out my phone, got my latest family picture up and interrupted the conversation and said “I am so grateful that your daughter was able to get treatment and that there is an FDA approved drug for her, let me introduce you to my 2yr old daughter who has a very rare Mitochondrial disease that has no cure, no treatment and is progressive and fatal and Insurance does not pay for her.”  I am pretty sure my spiel went on a little more but it has taken me this long to cool down.  I did start to breakdown but sucked it up and finished.  I did not breakout a picture of Daphne all day, the others were respectful, this guy was not.  The reality is though we will likely need him and I can’t burn that bridge.  We did have to excuse ourselves from his office to catch the bus and that was after almost 45 minutes, I think in one way or another we made an impression.  He made my glass of wine taste even better that night 🍷.  I had to give him some endearing comment about his similarity to a certain guy in his office, he loved it 😖.


Oh and the picture had to be from the waist up per his young wife so his belly did not show.

The rest of the conference was about networking and attending sessions which was great.  I need to follow-up with everyone I talked to yet and will but also trying to manage my inbox from work 🤦🏼‍♀️.

Every two years UMDF goes to the Capitol, if anyone is interested in joining me, just let me know.

Xoxo desiree

Daphne’s Lamp

This is BIG!

The BIG Announcement aka my SECRET Project is finally ready for it’s debut!

I have created with the support of my husband:

Daphne’s Lamp 💚which is a 501(c)(3) non-profit!

Our Mission: is to help people with Mitochondrial Diseases afford medical expenses.

About Us: The founders, having experienced the struggle first hand with healthcare to get approval for therapies for their daughter. Daphne’s Lamp seeks to lighten the burden of Mitochondrial Disease on patients and their families by increasing access to quality of life improving prescription drugs, vitamins, supplements, orthotics and mobility devices through financial aid and advocacy.

Daphne’s Lamp was inspired by the story of Florence Nightingale who was a hero in Victorian England for nursing wounded soldiers in war zones, giving aid and comfort where others were unwilling. She was known as “the Lady with the Lamp.”  
From that Daphne’s Lamp “Let There Be Light” was developed to shine light on an area of darkness in more ways than one. Let There Be Light also uses the acronym for Daphne’s Disease LTBL (Leukoencephalopathy with Thalamus and Brainstem Involvement with High Lactate).
I have been anxiously awaiting this paper for weeks now and it finally came!
I will be donating a percentage of my profits from my side businesses to my non-profit.
I will be visiting the Capitol this summer to make a change, get ready congress, I’m coming for you 👩🏼‍💼💪🏻
Thank you to everyone that has helped!
#daphneslamp #lettherebelight #mitosucks #daphnestrong #mompreneur #determined #timeforachange

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

 

 

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.

Little Inchstone

So as I have mentioned before Daphne had a regression in April of 2016.

What that means is, it is a form of brain damage.

It is unknown if the skills lost will be regained or get worse.

For Daphne she lost the ability to use her hands, she could not even open them, they were in clinched fists all the time, unless she was sleeping or completely relaxed then they would open slightly, also her arms and legs became very stiff and she also lost the ability to rollover. 

She was about 10 1/2 months old and this was so hard for us to see. We continued therapy, working with her and at this point in her life she really loved massages all over her body to help with I think sore muscles.

So now that most of her skills have been regained but glimpses of the regression still exist and she is definitely much weaker in those areas which were already her weakest areas, any little inchstone makes us all so happy and we cheer “Yay Daphne, good job” she gets so excited and is so proud of herself, she has this little grunt/laugh that she does when she has accomplished something. 

Earlier this week she had a dentist appointment and we did not have any oatmeal made so she and Rich were going to have a breakfast date at our local breakfast spot but while getting ready to leave I tried one of Adelaide’s pouches of applesauce. 

Note, neither one of my kids liked purées or mashed potatoes as toddlers (guess it was a texture thing) and Adelaide did not like applesauce or oatmeal for years, probably not until she was in elementary school, so this was super cute to see little miss poo poo eat from a pouch and hold it all on her own.



Sick Days

The past few days have been a little scary with Daphne.

She has been sick.

To most people with kids, sickness comes and goes and yeah it’s tough and nobody likes to see their kids sick or deal with the sleepless nights but with Daphne it’s very different.

Most if not all of you will never be able to understand the stress a sickness brings to us when it hits Daphne.

How is her body going to be able to handle it, how long will it take for her to get over, will she loose weight, what antibiotics can she take, how will her body respond to the medicine, how many doses of Tylenol or Motrin can she take before…we don’t know the answer, will she have a seizure, will she have, dare I say it and please say a prayer and send a good thought or whatever you believe in before I write the the next part….

(I did)

a REGRESSION!

Is the temperature right, will she spike a fever at night, is the house temp right, her body temp, her room temp, should she be in cotton Jammies or fleece or a sleep sack or should she be sleeping with us or us in her room on the floor so we can monitor her closely….

Let me tell you those are just a few of the questions that run through my head.

We hear so many stories of hospitalized Mito kids and (say another prayer) we have avoided that so far.

Well this sickness caused a high fever last Sunday after a few days of yet another ruptured ear drum that we were treating with ear drops and decided to hold off on the medicine since it had only been 1 week since she was cleared from her previous ruptured ear drum. She has had approximately 3-4 ruptured ear drums in the past couple months.  

She is teething, and I mean really teething, she has gotten 8 teeth in 6 months and is working on 3-4 more all at once. I blame the teeth but with her you never know.

So when she spiked a fever of 102.5 on Sunday I called the doctor and started an antibiotic. Monday we went to the doctors to follow-up and her fever was 103.5.

My girls and I run high fevers so it’s not something I used to get too worried about until Daphne, like I said earlier it’s very different.

Fevers are very dangerous to her disease.

We don’t want to give the Mitochondria any more reason not to function properly.

After consulting with the Medical Director of the Metabolic Group that provides the care for her Mito Disease and per the Pediatricians recommendation we started a 1 -3 series set of daily shots of rocephin. 

* I had a little anxiety as the pediatrician who saw her was not her doc, a new doc to the practice that had never met Daphne and clearly knows nothing about Mitochondrial Disease.  I was very nice to her but a skeptical nervous nelly all at the same time as she was comparing Daphne’s illness to her 14 month old daughters cold.

FYI please NEVER compare your “normal”, “healthy child” even if sick to my daughter with an extremely rare disease, I have a normal child and the two are incomparable. Nothing gets my blood boiling more than that!

But with a cool head I kept going on but said any thought or direction you want to take has to be cleared by her metabolic group first. 

She tried to get them on the phone via the physicians line but they are smart and took my call first, point for the Metabolic Director.

The Metabolic doc asked all kinds of questions on her appearance and suspected cause and when the ped doc said this is my first time meeting Daphne you could literally hear crickets on the phone so I interjected before he lost his cool and answered all his questions and explained our doc was on vacation and this doc is new to the practice.

All seemed okay after that and the Metabolic doc agreed with the treatment and to treat the fever as aggressively as possible.

The antibiotic selected is apparently very painful, they even mix a little lidocaine to help with the pain and had to give it to her in both legs since her dose was too large for one leg.

When the nurse said normal walking patients complain that it hurts to walk and often will not my heart broke for poor Daphne but hopefully she would not have that level of pain with her immobility.

So I took a VERY fussy baby home and she was what we call in a FRAGILE state. Any little thing can set her off so we all walk around on pins and needles.  I thought that night was going to be better because she had a dose of medicine in her but it was the worst night of all. 

Her sleep was already bad with the illness, she was not napping during the day and was not sleeping much at night, up 3-4 times.

Monday night she managed to sleep in her bed and Rich woke her to give her, her normal 1:30am bottle and her temp was 103, we woke her fully, gave her Tylenol and I held her on my chest, she was burning up but I know when I get a high temp I am freezing and when the temp starts to go away I then get really hot.

But that was not it, her heart rate was elevated and her breathing was labored and I was so close to dialing 911, talked to a sleepy Rich who thought she was normal, and the started texting my dad at 3am knowing he was up on the east coast and getting his thoughts since it had been about 20-30 mins since her Tylenol and the fever had not dropped much and googled labored breathing and elevated heart rate due to fever and sure enough a babycenter article appeared that on average in a child the heart rate will increase 5-7 bpm with each degree elevated… 

A sigh of relief that I was not crazy, all though me trying to record a pitch black video of the sounds of her breathing for my dad to listen to, with a humidifier running in the background was a little nuts. Sorry Howard!

So Rich took her in for dose #2 and her temp was still high and the ped doc said if she spikes a temp tonight she needs to be admitted to the hospital and to treat any temp over 100.4. 

Umm I was freaking out and expecting the worse because even with Tylenol her temp did not go down to 100.

Rich gave her Tylenol at 2pm on Tuesday and I watched her fever and checked it periodically in the middle of the night and it only got to 100.2, talk about lucky.  Even the next day it was low grade just under a 100, I took her back in for dose #3 and the final dose and asked what to expect and how to clear her for good.

What I didn’t mention yet is the suspicion is that all of the ruptures were the same ear infection that had not gone away but the ear drum healed but this stayed behind the closed drum and continued to fester, but the doc also saw puss on her tonsils (maybe strep).

I pointed out to the ped doc on day 1 of her fever she got a red spot on her forearm. Spots/Rashes and fever together can mean something.  They said NBD.

Ok so on day 1 of the antibiotic she got a red spot on her head. They looked at it and just said watch but didn’t think it was a reaction to the medicine.

On dosing day 2 spot on head stayed but everything else was normal.

On dosing day 3 in the room waiting for the ped doc she broke out in a rash all in her hair. I pointed it out to the doc and I said maybe a contact dermatitis…it happens to us sensitive skin folks all the time. She said maybe roseola or viral rash, NBD.

Well day 4 normal day the rash spread down her neck a little, ok I just watched it.

Day 5, Adelaide and I went Black Friday shopping (all day basically) only to come home and see a rash all over her back, under her diaper waist line, on her belly button and a little on her chest. 

Geesh, seriously?! 

I FaceTimed with my parents, took a picture, sent Rich to the store for Benadryl. 

Benadryl is not well received by Adelaide and I, it makes us super hyper. I know Daphne will be the same and was really dreading this right before bed. 

Rich brought home children’s Benadryl not infant so I said let’s just both go back to the store, Daphne needs to get out of the house.

Guess what. They don’t make Infant Benadryl. So I called the ped doc on call line, to find out Daphne’s pediatrician was on call… thank you Jesus!

Her doc is the sweetest most kind and caring doc I have met. She said so I have been out of the loop with her but have read the notes, and she asks what do you see is going on? I explain everything, text her pictures of Daphne, examine the rash for smoothness, when you press on it does it go away, etc.

She mentions measles (eek don’t even say it, she is not vaccinated against it) , Roseola, viral rash….basically it is unknown but it sounds like roseola and I google and it sure does. 


One thing I also read about was febrile seizures and Monday night during her really high temp and while I stayed up with her from 2-5am she was doing a really weird clenching with her hands and kept her arms high and tight and moving (honestly rich and I both thought it was the signs of a regression) but usually don’t say those things out loud to one another, but I started to this time and he just said I know. I watched videos of kids going through these and think this is what was happening.

I had training on seizures a long time ago as a Disney life guard and had a cat who had them regularly and was medicated so I watched a video tonight on how to care for them. 

1. Remove anything that can hurt them

2. Cool the environment (temperature wise)

3. Do not restrict movement

4. Wait until it is over

She is not out of the woods. We avoided a hospital visit and I hope to keep it that way but this “rash” needs to go away and we are following the doctors orders on how to care for it.

I decided to write this blog post as we got into bed to sleep probably because I can’t sleep and have to watch her and constantly go check her  in addition to watching the video monitor which is requiring a trip to the chiro and massage for my tight neck.

Worried Mama Tonight, even more than usual!

Run of the Mill

So my parents have been here for the weekend…

No lie within 30 minutes being in the house all the dishes and ahem 2 weeks worth of laundry were washed and folded!

Hallelujah!

That was a huge relief, I could have almost thrown in the towel to doing the epoxy in the garage….nah who am I kidding, I love a good project.

Actually Rich and I have spent most of the evenings over the past couple weeks working on the garage after the girls go to sleep until about midnight.  We are tired in the am.

But it looks so much better.

Anyhow I love my convo with my dad before bed is about “run of the mill” doctors. The ones that don’t make an effort to invest any time into their patients.

Ahhh obviously I was complaining about Daphne’s docs who treat her like a hospice patient. Sorry stupid stupid docs. Not my kid and not in my watch. I have no issue challenging them and making them think and making them do the best they can. 

They see tens of patients, not hundreds so they are supposed to be the resident experts bringing all the latest articles to us and knowledge on research, not the other way around.

These people piss me off and they piss my dad off! 

Take the time to read and research, it’s not that hard! 

I am going to say, sorry not sorry for him continuing to fuel my hatred and disappoint in most of the docs I encounter (FYI he’s a doc himself)!

So I can end on a positive note below are some pics from our weekend!