Charlie Gard

There is this little boy in the U.K. Who has a rare, 1 of 16 in the world, Mitochondrial Disease

…just like Daphne

Can I please just write, what freaking Mitochondrial Disease is not rare?!  I mean my god, I have never heard of it, nor have any of our family or friends and the chances are just hugely out of this world of getting two mutated genes or even one in Charlie’s case, so yeah they are all freaking rare.  Let’s stop saying it now.  Before I felt pride saying it, now seeing it thrown in our face justifying inadequacy for treatment and science, it now pisses me off.

I digress sometimes, sorry.

They say he has had brain damage

…just like Daphne

They say there is no cure, no treatment and just enjoy your time

…just like Daphne

His brain damage may be irreversible 

…just like Daphne

I have known about this family since last fall, UMDF made a post to pray for a few people.  This little guy was one along with another baby that has since passed.  I have donated to their cause, shared the news and thought about them daily.

Only recently has Charlie grown to International awareness and where I am pleased with the publicity for the disease, it makes me sick for this sweet baby and his family.

A family with their first child is supposed to enjoy all the firsts in their child’s 1st year.  Sleepless nights, giggles, explosive diapers, first solids, those wobbly legs when they take their first steps and the sweet sound of their first words.

Instead these parents get to stare at their sweet boy in a hospital room since 8 weeks of age, missing all the firsts, except a rooftop picnic that hospital staff gave them, and having sleepless nights over fighting the most horrific battle to do nothing other than keep this sweet baby alive. 

I can’t even believe a situation of this magnitude, rests in the hands of government officials.  It’s disgusting and undeserving.  Government officials are not medical experts and they are not Charlie’s parents, who are the only ones that should be able to decide the course of treatment.

In this case the local doctors and hospital think that Charlie should die and not give him a potentially life saving therapy or even the Mito Cocktail.  Unbelievable. 

At this stage it is not about what will work but ego.  Every now and then we have to take a slice of humble pie and eat it, I sure hope that is how this ends.

There are rumors he is suffering, his suction and intubation are painful, come FREAKING on Great Ormond Street Hospital, I see patients getting suctioned in the doctors waiting rooms waiting for an Ear appointment, this clearly was a regular occurrence for this particular family and I don’t think they are in pain.  If you tried to put in or remove the intubation tube without sedative I bet it would be painful, like catheter painful (but docs do that even to little babies without sedation) but having a tube in that does not move, and so many others have been conscious and have been fine and not in pain and even talking.  Try something else.

Unfortunately with these kiddos they build up a pain tolerance, even to a simple blood draw.  It’s sad to see as a parent but a reality for the life they live, constantly being tested and having procedures. 

It seems the highest of high people, Trump and the Pope, to name a couple all want to help Charlie and bring him to their countries, but yet the U.K. will not release him.  It doesn’t make sense except for ego.  We all know that the legal system and this hospitals credibility would be disregarded for all future endeavors.

What I am sad to see is something as simple as two parents caring so deeply and wanting nothing but the best for their child, come to this.  I don’t want to see this become the norm but do not blame the parents at all, they had no other option but to bring attention to it in a last ditch effort to save their baby.

These are some of the headlines today, it is unclear of the judges intent for the next few days but he may be asking for the U.S. doccto come examine him.  I pray that god is with all involved in this case.  This baby deserves nothing but a CHANCE!

I still have hope and faith that this sweet baby is going to prevail.

There is a bill special for this family that you can call your local officials to vote on.  I can walk you through the steps of what to do and how so just let me know.

Please keep up the thoughts and prayers until Charlie is in the U. S.

xoxo desiree

4th of July 

Nothing like arriving at 11pm to waking at 6am for  5k and inviting some of Adelaide’s friends to run with me.

Let’s be real I wanted them to run with me so I had an excuse to walk 😂.

I was pushing Daphne and Rich was running for time.

We stayed cool in the shade for the parade and then hung with friends for a little and had an early night at home and saw some fireworks a from our guest room.  A great 4th since we didn’t have Adelaide 🙁.

Flying back to Cali

I got to see a few of my friends that I love dearly, I wish I had time to see all of them and even other family I did not get to see….sooner than later I hope.

Enjoy some pictures of our time together and note that I missed my flight running to get these kids fidget spinners and sunglasses, apparently the 45 minutes before a flight check-in is time for your luggage to get from point A to point B 🙄, so we had time to go shopping. 

That one time

I got to spend time with my dad and little bro.  It was so nice (a little tiring going west coast to east coast, but still great)

I was busy doing my conference thing all day so one night we galavanted around the monuments until 2am 😴

I highly recommend it, it was so cool and no crowds!

The next day they said to meet them at a park where they were listening to jazz and drinking Sangria, sounded great except for the 90 degree temp and 150% freaking humidity.  I did it despite sweating through my clothes 😜

Then is was back to the hotel to change clothes, have great sushi and walk through the Trump Hotel.

The most impressive bar full of gorgeous decanters.

There were several of these chandeliers.

He leased the old post office and my that building is gorgeous, despite my thoughts towards the man, well done on the decor. 

On our final day they drug me to an art museum…I will be honest, I am not much into history or museums 😴, we then ended with amazing Peruvian food

On our drive home in my hometowns NEW Sheetz I bought pepperoni rolls and a no bake cookie, they were horrible but I was feeling nostalgic and really looking for Caporale’s roll.

We ended my visit with a family boat ride, dinner and some sibling time with Isaac’s lovely girlfriend Emily, this never happens.

xoxo desiree

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

Summer has started

I can hardly believe that Adelaide just finished 3rd grade but this sweet, sassy, independent and amazing little lady is officially a 4th grader.

The last day of school resulted in me picking her up early from after school care per her request and then getting begged by her friend to bring her home as well which gave me an excuse to get them Snow 2 Go (my guilty summer pleasure of the most delicious shaved ice I have ever had).

The first movie in the park (outdoors on a big screen with snacks and kids running around everywhere)  luckily it was Daphne’s favorite movie and where she was a little unsure at first she ended the night in all smiles, and stomping her foot to the music.

Today we surprised Rich with Deep Sea Fishing with a very early wake up at 4am then brunch at one of our favorite spots afterwards. 

Daphne didn’t like two of the guests on the boat but luckily fell asleep and missed he entire fishing experience and woke up moments before we docked.  Thankful she was happy for the boat ride and brunch!

I would have loved to have slept on that boat, rocking waves, the sounds of the waves and the cool salty air, yes please!  That girl was in heaven!

We did not catch any fish we could keep but Rich an Adelaide did both catch a couple Sculpin.  Did you know the fins are toxic if they hit you, as the skipper said not toxic like your going to die but it’s going to hurt really bad!

Everyone was tired except Daphne and took a nap when we got home. 

I hope all the dads out there had a great day!

Xoxo desiree