Family Photos

A few weeks ago and VERY last minute our local photographer offered a mini session and the timing was perfect with Daphne’s 2nd Birthday.   Daphne’s and my dress arrived the day before and I forgot shoes for my non-walking tiny footed girl so the grass hid her feet well.

The day of the pictures was very busy, the entire weekend was but especially the day of, we hosted Adelaide’s end of the year swim soccer party/Daphne’s 2nd Birthday at our house.  Daphne decided to party the night before, my way of describing her not sleeping, waking in the middle of the night and wanting to play/talk very loud for HOURS then sleep with us so we get just a sliver of an edge of our king size bed.  It was killer she was up from about 2-4am.

Despite her efforts the days events went on as scheduled and so did the family pictures which turned out pretty well knowing what we were dealing with.  Daphne did not want to cooperate and was over it by the time it came for her single shots, we may try again with just her.

Here are a couple of my favorites and I have to say, my girls are just dreamy!

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xoxo desiree

The Road to Diagnosis

Wow, I can’t believe it has been a year since we got Daphne’s Diagnosis

Where it has felt like 10 years with the most stressful, life changing experience, other parts have seemed to fly by and not lend enough time to get things done.

I think I am ok now with saying I consider us lucky in finding out so quickly, it only took 5 months.  I/we as parents probably were a delay in that and it could have been even faster.  I read so often families go years looking for answers and are left not knowing.

So how did we know?

THE BIRTH

Daphne was born a healthy baby with normal APGAR scores (9 and 8 I believe) but was just sleepy and did not want to eat right away.

I jokingly said she got that from Rich because he loves to nap and sleep and always seems sleepy.

One delivery nurse was especially concerned with this and kept making a big deal out of it, trying to force her to eat, doing blood tests, bringing a supplement bottle for us to try thinking breastfeeding was not going to work and I was so annoyed but also a little curious why she was so concerned.  We stripped her down, put cold wash cloths to her feet to try and wake her, did skin to skin, everything you can think of, so much that her body temp started to drop and then we had to add heated blankets.  After about 7 hours approximately Daphne started eating just fine.  The concern was over and we moved on. We did stay in the hospital a second night just to make sure everything was ok and it was.

FIRST MONTHS

We noticed right away that she preferred to look one direction over the other and her pediatrician said just turn her head and rotate the direction she faces in her crib to get her to use both sides.  We did this and it seemed to work.

Daphne always felt a little floppy and soft but was progressing and gaining so there was not a concern.  I remember at about 3 months old her head control was not where I believed it should be and so I decided to change my hold on her and face her out with her back against me so she had to engage her neck muscles.  This seemed to help.

She rolled over on time, was scooting backwards and a chunky happy little baby.

She even started sleeping through the night at 9 weeks and I thought I was in heaven.

Around 4 months she seemed to want to eat a lot and seemed interested in our food so I tried cereal but she was not interested and she was not anywhere close to sitting up.  I took a break then tried again at 5 months.  Again she was not close to sitting up and did not want the food.  I discussed everything with her Pediatrician and got the “every kid does it differently”…yeah yeah but they still hit it within a range and I did not see signs that even that would happen.

Right before her 6 month check-up we were at a Christmas Party with friends and like most moms, my friend and I were talking about Daphne hating tummy time which is normal I know but the level she hated it at was different and her tilted/weak head control and she said you know it looks like Torticollis, they showed me the special hold to help correct it which Daphne hated and gave me the name of a physical therapy place to get an evaluation.  I had never heard of Torticollis, read up on it and it sounded a little like Daphne’s newborn symptoms but she did not present 100% that way at 6 months but I was desperate for an answer.

I talked to her pediatrician about it and she said I don’t think she has Torticollis let’s give her another month and if she is still not sitting up let’s send you to Neurology and PT.  I kind of freaked, took it into my own hands, scheduled two PT evals before we left for Christmas Break and was told maybe she had silent reflux (maybe the reason for hating tummy time) and maybe torticollis but low tone for sure.  So that seemed like an easy fix, she started an acid reflux med and we made an appointment with a GI Doc.  Daphne hated the med and after a couple of days there was no difference like we were told we would see so we stopped.

We also saw an Orthopedic and got an X-ray of her hips to makes sure they were okay and not preventing her from anything. 

We went to the GI Doc, she did not think she had any serious issue with reflux as all babies had it to a certain degree and Daphne was not throwing up, she just did not like tummy time.  The Doc was smart, old school and in touch, we also were talking to her about weight gain and she said add oatmeal cereal to her bottles as the rice industry was crap, feed her olive oil and avocado to beef her up and referred us to Neurology and a feeding evaluation.

At this point she is 7 months old and this is Jan 2016 that all of this is happening.  We went to this Neurologist who I recognize as brilliant now but back then I hated her.  She was talking to Rich about SMA, which if you don’t know anything about it, read for 1 minute, all those babies DIE before 1 year old so I did not want to hear anything she had to say.  She also spoke of a Metabolic/Mitochondrial Dysfunction and referred us to CHOC Metabolics, ordered a bunch of blood work, MRI, skin biopsy and I freaked out.  I said no to the MRI and skin biopsy, we decided to go least invasive to invasive as needed.

Jan 30th Daphne had a ton of bloodwork done, so much that the Phlebotomy staff made us come back to finish it because we would have exceeded the amount she was allowed to have taken if we did it all in the same day.  That was hard to swallow and the start of learning the ins and outs of blood draws the good, bad and the ugly.

Our doctor at CHOC was very knowledgeable and our genetic counselor was the best of the best and so sweet and knowledgeable of the disease and able to dumb down anything the docs said.  It was a flood of information, lots of bloodwork, family trees being mapped, at this stage it seems like such a blur and I would really have to pull out the binder to map out the entire process.  It felt like all we were doing was going to doctor appointments.

They ordered a chromosomal micro array blood test on Daphne and it revealed a duplication of chromosome 3.  Rich and I were tested and I was the carrier of that, it is a trait for adolescent seizures but I did not have them so hopefully Daphne will not either.

Then they ordered genetic blood testing of 319 genes.  It would take 6 weeks to get the results.  It was approximately $14,000 and we ended up paying around $800, the testing companies have this thing where they own the results so they subsidize the cost, gee thanks!  

She also went to a Cardiologist with the diagnosis of a suspected Mitochondrial Disease to check her heart.  It was “clear” but they wanted to check her again in 6 months.  We went back and learned that she had a PFO and that is common in babies and it closed but they did not tell us that.  

Around this time and I am really skimming over all the appointments, I took the girls to Hawaii with my parents.  Daphne was so fussy the entire trip, would scream in the car, was not content most of the time, even if being held so it was a struggle of s trip.  I tried to recreate a picture I have of Adelaide in Hawaii at 3 months with Daphne in the same dress and pose at 10 months but she couldn’t do it.  When we got back we had a followup with the neurologist and Metabolic group and they said benign infantile hypotonia, the best diagnosis possible.  

BUT then days after getting back she had a regression.  She had an EEG at some point and I cannot remember if it was pre or post regression.  It was probably pre and was ok.  Some abnormalities were found but I did not think it was much of anything and she was not having seizures so it was relatively okay.  However after the regression our Neurologist panicked put in expedited orders for an MRI even though the Metabolics department was  it willing and that happened within a day or so versus the over a month wait CHOC was offering.  

The MRI results showed Leukodystrophy and we were devasted.  That is a degenerative white matter Disease.  That was a tough day but little did we know that 16 days later we were going to find out the worst news and our lives as we knew it would never be the same.

I remember freaking out about her Birthday Party planned and a dear friend asking if I wanted to cancel it and I said no, it may be the only one she ever has.  A thought I never thought I would have.

All the specialists reviewed the MRI, we went into overdrive sending her results to all kinds of specialists, asking them to review her information to shed light on any possibility.  Nobody responded.  

We made an appointment with the San Diego doc urgently and got in 1 day after her 1st Birthday and he told us the suspected Mito Disease, Leukoencephalopathy with Thalmus and Brainstem involvement with High Lactate (LTBL), which we later learned was the diagnosed disease.  He told us all the grim facts and words that I can barely say to this day without crying, “there is no cure, no treatment and it is fatal”.  He said there is nothing we can do, clinical trials do not start until age 2, it was a NEW disease with only 12-15 diagnosed in the world and at that time it was about 3 years old, it is expected that this disease is one of the main causes of SIDS babies and just goes un-diagnosed.  He said he sits on the National board for approving clinical trials so he knew all available and there was not even anything for this disease.  He discussed some case studies with us, suggested some vitamins and sent us on our way.  

I cannot even begin to describe the hate that I had for that man!  I described every flaw he had, was so angry over his dismissal of Daphne and just sending us home to watch her die.  I said I never want to see him again.

After having time to absorb the diagnosis the only positive at that time we could find was knowing what to research.  Rich and I both spent so much time researching, it was exhausting and overwhelming and all day we would email each other new links, read and read and prepare questions to ask the doctors at our next appointments.  

It was months and months of research, talking to other Mito families, finding another mom with a son with the same disease.

We learned so much in such a short period and are close to experts at this point. 

The road to diagnosis was by far the toughest event I have ever gone through.  We went through so much and I didn’t think it was fair that most families would not have the knowledge and access to resources like we did and knew I wanted to find a way to make a big impact on the disease, so one day after hearing so many families complain about their struggles with doctors, insurance companies and costs of supplements, I knew that was my mission.  Mito is unpredictable and uncontrollable so the ability to make persons with it feel the best that they can and be able to afford it was the basis for Daphne’s Lamp.

I am a day late in completing this post as I was celebrating my longest best friends wedding.  It is amazing how life replaces one of the worst days of your life with the happiest day.  Yesterday I spent the day catering to my dear friend and making sure everything went flawlessly.  I was thankful to be busy, if I would have had even a moment I probably would have cried.

Xoxo 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

 

 

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

 

 

 

To Gluten or Not to Gluten

We are continuing to search for other ways to treat Daphne and slow/stop the progression of the brain disease caused by her Mito Disease.

Rich has found some articles on supplements and and is reaching out to Neurologists to see if one thought he has holds any basis.

I told him to not get disappointed because most docs are not willing to step outside and have an actual thought on their own or “try” anything not already documented.

I mean are we getting anywhere with Science?!  Some days I wonder.

So we know that Alzheimer’s, Huntington’s, Multiple Sclerosis and Parkinson’s all have Mitochondrial Dysfunction.  All diseases that do not have a cure!

My great-grandmother and one of my grandmothers died of Alzheimer’s.  It is a horrible disease and I remember thinking when I was younger and seeing them both go through this that they are still active and moving and eating and should be fine.

Never ever did I know the impact the Mitochondria has on the body in causing systems to shut down until Daphne.

Now looking back at both of them going through this I wish I had known what I know now, I wish I could have suggested more things.

Let me get to my point…

Today I spoke with a co-worker that was diagnosed with MS 3 years ago.  I wanted her to tell me what worked for her.

She spoke about different doctors she has seen in the US (not as helpful) and Switzerland (helpful stating something is poisoning your body, drink more water)  she agreed that the doc sounded crazy suggesting water but she increased her consumption and she felt better.  Novel idea since our bodies are 80% water but sometimes you think you need to hear it from a doc for it to be true.

Stop that now.

She then discussed Terry Wahls, a doctor who had debilitating MS that went from a wheelchair to standing, and her recommended diet.

It’s basically gluten free, dairy free (aka Paleo).  Oh boy!

She said she switched and follows the beginner diet as the doc has 3 stages and it has helped her.  Her MRI showed the previous lesions on her brain were gone as well as her spine healed after she was on the diet.

She even said she ate spaghetti last night and woke this morning not being able to walk.  But was pushing herself to go for a 10 mile bike ride with coworkers because it would make her feel better.

I googled, researched and found this really interesting you tube video I hope you all will watch.

We have asked about diet and always get the same answer…”it doesn’t matter”

Diet is impactful, let’s look at kids who eat processed food (chicken nuggets, mac and cheese, pizza) vs kids that  eat fruits and veggies.  I know after I eat the processed food how I feel…nasty, overly full and bloated the next day.  You will not say man I am so bloated from that peach or bowl of broccoli.

I know it’s all in moderation and change is hard, but if there is a shred of evidence that this could help, it certainly will not hurt.

I love pasta.  It’s my favorite food.  My body does not like it but I would be willing to try this along with Daphne to see what it is like.