Doctors – Life is RADD

BIG NEWS ALERT

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

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

Follow me for a minute here….

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

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

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

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

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

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

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

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

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

#mitostrong 💚 #daphnestrong

One thankful and Happy Mama tonight 😊

Prayers Needed

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

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

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

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

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.

Reversible

So my super smart, amazing research scientist husband spends just as much time researching Daphne as he does his job.

Don’t ask me when he has time for the rest of life.

Seriously he researches A LOT!

He found an article that I hope has changed our lives.

An article that I hope helps others.

An article that I have been so scared to mention it out loud, let alone write about it

…because something bad would happen (don’t ask me what)

…people would bombard the scientist

…maybe science would say too bad so sad it will not work

…our doctors would not believe in it

I was scared. I still am.

But I know the more science knows the better Daphne will be.

So here it is reversible

What is basically states is that there are 4 reversible mitochondrial diseases per her research. 2 fully reversible and 2 partially reversible based on a mild state and age diagnosis and some other stuff…..read it.

Daphne’s Disease is listed as partially reversible!

I mean when I read it and Rich and I talked about it I was so excited but then again contained my excitement so I didn’t jinx us or whatever else.

I met a Mito Mom who lives in Canada on a Facebook group I am a member of who told me to research articles and contact the authors to see what they know and to do the same with clinical trials since neither one of our kids are old enough to participate.

I said Rich this is what the Mito Mom said, you have to contact this doctor. So he did and she happened to respond super fast and was attending the National Symposium for UMDF in Seattle that we talked about going to but didn’t but we connected her with our Genetic Counselor so they could talk and meet.

We shared the article with our Metabolic Group and discussed the supplement N-Acetyl Cysteine which they wanted to discuss with us yesterday.

There are some GI issues that could come from it and maybe toxicity of the liver but she is functioning normal to date so we have to be a little careful with this supplement and will follow-up in 1 month to monitor her levels.

Also our San Diego Doc was just in the UK visiting her lab because of funding or a proposal she had requested. Small freaking world!

As our Metabolic Team stated we are now in a very small select group in the World and will get to know just about everyone associated.

My angry point of this post however is that the doctors (both the NeuroMet team and the San Diego Doc) did not bring up this article or any science from it and it was published over a year ago. RICH had to find it and really push them to explore this option.

This is even more justification that no matter how great of a medical team you have caring for your child, you are the only advocate for your child and much exhaust all means necessary to find a cure.

**This is exactly what I am talking about with all care not being equal and wanting to help bridge that gap for others that are less fortunate and do not have the resources or intellect to find this stuff out. I truly believe that is one of my missions in my baby being given this stupid horrible disease. I want to make this happen and do not want to be a website like all the others in memory of my daughters life.

I want my daughter to break the mold and defy the odds and science.

So the coolest part is the Doc in the UK recently received some money to study fibroblasts in the EARS2 gene mutations and she is willing to receive Daphne’s sample. I mean have any of you ever had this type of connection?!

Ok, maybe you have but don’t burst my bubble, it’s stuff like this that got me through yesterday’s procedure.

I hope and hope that she can find something to help Daphne and advance science. I have no idea on how long this will take. I will keep everyone updated.

There is another article on a suggestion of an intermediate stage and the use of another supplement but we are pumping the breaks on that one as we will wait approx 3 months before starting Daphne on anything else.

So you know these supplements are NASTY in smell and taste.

Two of them we put in her bottle and hide it with a combo of breast milk, formula and oatmeal cereal. We have tried oatmeal, applesauce and yogurt but to get her to eat enough to ensure it is all consumed is not fun, even if we do one bite.

Any tips for getting a baby to take them?

Thanks!!

NeuroMet Appointment

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Not!

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

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

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

Here is my little sick bugga and her poor little leg

NeuroMet Clinic

All has been relatively calm in the house, except…..

Daphne is TEETHING!

Adelaide has a high fever (hopefully just a cold but she had the stomach bug over 4th of July weekend)

AND

Daphne has been partying with Rich late night a couple times this week.

In all seriousness Daphne has been teething for months.

I asked another Mito mom if she thought it took longer than normal for her daughter’s teeth to come in and she said yes. Her daughter is 21 months and she only gets about a week break in between teeth. She is currently working on her molars. I do not know how Daphne is ever going to get molars. Right now at least 3 of her top teeth are coming in, probably all four but I can see the points of 3 of them. Her gums have been red and swollen since before her 1st Birthday. I feel for the little girl but for the most part she has been happy, she just has her days.

Yesterday she was fussy all day at the sitters and did not sleep, last night she was up from 1:30-4. Today she slept at the sitters and I hope she sleeps tonight. The teeth look like they have made some progress.

It’s a real bitch when your body sucks at making energy and you require energy to push your teeth through. Mito SUCKS!

Doctors….

We haven’t seen them in awhile.

It’s annoying and causes anxiety and lots of questions.

I also think its been kind of nice. We have gotten to settle down from all the running.

We go to the doctor next week. Our 1st appointment at the Neuro Metabolic Clinic.

Here starts the “Care”

So I will remind everyone I am NOT on Team Metabolic Group.

They really annoy me and I try my best to be polite and respectful but I am starting to near the end.

I like or did like our Genetic Counselor but she is also annoying me.

Like I said we have a lot of questions and have sent various emails so I compiled all of them and sent one collected email with all remaining open items, and then Rich found another research article and passed it along with some questions and the doctor replied perhaps they can wait for an appointment because it is becoming difficult to keep track of all the emails and effectively treat the patient.

Perhaps I am bias and selfish but I just compiled everything for you and items were addressed except the latest article Rich just sent them.

My guess is they are embarrassed that Rich is finding research, (stay tuned for a post on this), that they know nothing about. They do not acknowledge the articles he has sent because they do not know. It is beyond frustrating.

It’s like politics in a company and I deal with that during the day, I cannot and will not have that with my daughter and her health.

I did take a little work approach with the Docs and created a RAIL (rolling action item list) to have every single little comment, issue and question we have addressed and it will remain open until I decide it gets closed.

Some may think I am OCD but I just like things a certain way and to be completed and not overlooked. I do not see OCD.

So the latest email asked about which Neuro we will use the 1st, 2nd or 3rd one we have seen or a new one in their group.

We did not like Neuro 1, Neuro 2 was great and the biggest advocate for Daphne and one of the best physicians we have seen to date but he does not know anything about Mito, Neuro 3 is Dr. H and I do not like him much but he is like a Mito Genius per the Mito Community but I do not want to rely solely on him so I agreed to the Neuro in the Clinic for now. After all we have to meet them first before I can hate them 😉

During this appointment Daphne will get more bloodwork and a skin biopsy….eek!

I have put the biopsy off for awhile now. I mean who wants to hold down their baby and get a hole punched out of them. Yes she will be numb, but still I cannot even stand for her to get her blood drawn.

We will also talk to a variety of specialists and maybe just maybe the Medical Director of the Group to understand all the supplements we have asked about and they just gave the dose and said start them 1 week apart without any conversation. The total number of supplements would be 8, really docs, really?! We have trouble getting two into her. The 3rd has been a nightmare and pretty much non-existent. We may be breaking them down and I do not feel bad about it at all.

This is our baby.

Our sweet little 13 month old that has a stupid horrible disease.

That has a group of doctors that do not seem to care.

That seem to just act like they are maintaining her comfort and not trying to cure her.

That have the most minimal hours of any doctors office I have ever visited.

I do not know what they do when they are not in appointments, which is only like 2 days a week half days. They better be researching and exhausting all means to help their patients. If I find out any different they will certainly wish they had never met me. I am working very hard at making connections in the Mito Community, setting up a family social in the area and getting a grand rounds for families and doctors.

God give me Patience and Strength!

So stay tuned….

Desiree

Seventeen

In May after Daphne’s MRI results came in, we were told it was bad for her to fast or even go long periods without eating. The thought is that the chemicals building up in her blood are also building up on her brain causing the brain damage aka white matter disease.

The Doc said she should not go more than 8hrs without food or sleep for more than that at night, but not to wake her to feed her. I told him she usually sleeps 11-12 hrs per night and he still said don’t let her go more than 8 hours without eating but don’t wake her….

Clear as mud. But when it comes to preserving your babies brain you are extra cautious.

So I challenged his 8hr timeframe because….

Fasting for bloodwork is 3hrs
Fasting for an MRI while breastfeeding is 4 hrs
Fasting for an MRI on formula or food is 6 hrs

Daphne fasted for one blood draw and it was about 4-5 hrs by the time they drew it and her numbers were elevated in some areas and lower in others.

So Rich and I decided to wake her 1-2 times per night and feed her.

At first we tried 2 times per night but that did not go over well with her, she was tired, would not eat the 2nd time and most times stayed awake and was then up all night and sleep is important for the brain and development.

We finally settled at putting her to bed around 8, (some nights it’s earlier depending on her day) and waking her at 1:30 A.M. and then letting her sleep on her own till 6-7.

I wish I could say its been smooth but we have more rough nights than we do good nights.

At least it feels that way…[insert tired exhausted laugh]!

Sometimes she decides to stay up at 1:30 till morning, sometimes she decides to cry all night because she is tired but won’t let herself fall back to sleep, sometimes she just wants to party and other times she thinks the day should start at 4 or 5.

It’s ok, we get through it. I look a little worse than before so I need some miracle beauty products…tips appreciated 🙂

Anyhow we take turns but when Rich travels it just about kills me, with working full-time and getting Adelaide out of the house, keeping the house going and taking care of animals. With his upcoming trip I am going to try and be better and make Daphne be better.

I may have just jinxed myself but I hope not.

Anyhow the BIG ANNOUNCEMENT of this post is that Miss Sassy Pants is now 17 lbs 5 oz and 28.5 inches!!

That is a 1lb 1oz and .5 inch gain in 1 month! (yes I took her to her pediatrician just for a weight check and plan to do it monthly) The doctor was very happy and said keep doing whatever you are doing.

Daphne since eating table food has always been a good eater and her portions have only increased but the thing about Mitochondrial Diseases is it does not process her food or the nutrients completely. I can only think that eating at night and completely resting allow her to absorb her food better with her body not having to spend energy doing anything else except for the automatic stuff like breathing, heart beating and maybe swallowing.

Here is the little chunk very proud of herself for sitting in the chair waiting on her therapist today!

Transition

On Monday we had our first appointment with the Metabolic Doc since we received the Diagnosis.

As Rich said you could see us transition from diagnosing to CARE. This was a little hard for me to accept.

I mean we have been caring for her everyday and just because they put a name to her condition, doesn’t change how we CARE for her. The docs may be smarter than us in knowing what to expect but I will not settle for that. I will not just wait for the symptoms to appear. I plan to help Daphne defy the odds and have the best possible life she can.

Ok…I’ll try to hold my anger back a little.

I actually was not too angry during the appointment. It was the first time I actually liked this Doc. He seemed to have more compassion and cared about Daphne.

They watched her laugh and giggle the entire appointment and she even drank a bottle in front of them. She likes a quiet place for eating, including meals, she is easily distracted.

They said she seemed more interactive and happier than before. Which we agreed.

We discussed the next steps.

It appears we will now be seen by the Neurometabolic Clinic which is a group of specialists all needed to care for Daphne.

Neurologist, Dietitian, Nutritionist, Social Worker and Metabolic Docs to name a few.

We asked about current supplements she is on as well as other supplements we have read about or heard other mito kids are on.

Our metabolic doc is not too knowledgeable on supplements, so I hope the Dietitian or Nutritionist will be.

We asked about emergency preparedness plans, general treatment plans because mito kids are different and cannot take some antibiotics and if there is an incident of anything we will know exactly what bloodwork to run and what IV fluids to use (the norm does not work for mito kids, it can actually make them worse), next MRI, bloodwork, testing for Rich and I and the skin biopsy.

The Doc said we can wait approx 1 year for another MRI (unless she has a change) so Daphne can have time to produce more Myelin (the white matter in her brain). Apparently some newborns do not have much Myelin which is why they have Parkinson like symptoms and kids produce most of their Myelin by age 8 but can continue producing it until age 20.

We will take a skin biospy sample from Daphne in the new clinic once we get an appointment which will help them better understand how her body is functioning. SO they say and they better be right for me to agree to punch a hole in her.

Rich and I will get tested for the genes that Daphne has to one see how our family will be impacted and to help them understand more about Daphne. After Rich and I are tested then our parents will get tested.

Daphne not only has the two mutated EARS2 genes which is rare but 4 other genes that are rare but luckily she does not have the pair to make them a problem. This information is pretty unreal!

There is a National Symposium in Seattle starting today that Rich and I were talking about attending but decided not to this year. He wanted the science portion and I wanted the family stuff and we did not want to travel with Daphne and have a lot going on here so we are sitting it out this year. Our San Diego Doc and our Genetic Counselor are both going so I hope they bring back information for us. I know it will not be the same as if we are attending but it will have to do for now.

There are two great websites full of more information than you could possibly want:

http://www.umdf.org and http://www.mitoaction.org

UMDF has a mito_first Handbook that explains Mitochondrial Disease

MitoAction has a good Mito 101 Handbook as well but I cannot find it again.

Desiree

Diagnosis

Yesterday we got the call that the results were in from Daphne’s genetic test.

This test was drawn in April with her normal blood work and we did not know that until mid May (trust me it’s a story and a process to get this test done) and thankfully because only waiting 2 weeks was tough, I can only imagine what 6 weeks would have felt like.

We were a house divided on what we wanted to see.

I did not want a result, continuing my same mentality that if “we” don’t know then it’s nothing serious.

Rich wanted a result to know what path to go down.

[Insert sense of humor] I hate being wrong or proved wrong!

The test told us that Daphne has Leukoencephlopathy with thalamus and brainstem involvement (LTBL), also called tRNA. It is a mutation of the EARS2 gene that she inherited from both Rich and I (we are both recessive carriers).

Now I cannot explain the above yet and do not even know if we call it tRNA or LTBL or what. We will meet with the doctor on the 16th to understand it more.

I have not even read anything because I can’t describe how I feel, I don’t know if this is numb what I feel, I haven’t broken down crying yet, I get tears in my eyes but its not like before. I don’t know if it will take time, if it will take me reading articles on it or if I have a sense of feeling at ease knowing we have a path to go down and become experts in.

I will say that as much as I hated things about Dr. H from my previous post he diagnosed Daphne with this mitochondrial disease before the test results were back.

This is a rare disease. I do not know the numbers yet but I think the number of people in the world is very small.

I do not understand how both of us are carriers of something so rare with no family history.

There are percentages of who else in the family can be impacted by this for their plans to have a family and our chance if we were to even think of another child but we have only read that online and not talked to the genetics doc about this so I won’t write anything on the unknown.

Below are some articles or genetic counselor sent us in case you wanted to read and not get lost googling. I have not even read these yet.

20160603151557958 [14469]

mitochondrial tRNA synthetase review article [14467]

Zevani article [14468]

Thank you for your continued thoughts and prayers!

Desiree

Frustrated!

Yesterday we had another appointment for Daphne.

A little background on this:

I found this Doc (I will call him H) early on in my searches for the best Pediatric Neurologist in the area before we even saw a Neurologist. Then I was googling essential oils regimens for Mito and stumbled across a fundraising event that mentioned another Doc (H’s colleague) and discussions about this Mito Clinic in San Diego.

Fast forward a few months and all the tests later, to where we are now, and we were referred to a list of docs from our 2nd opinion Neuro. The first choice on the list referred us yet again to H. It did not click with me that this was the guy I found before, and that I found his colleague the night before UNTIL I googled his name to read up on him and saw his picture.

I thought HOLY CRAP, this is a sign. We have to go to this Doc. He seems to be the answers to our thoughts and prayers. We pushed hard to get in with him, asking the Neuro for a referral, asking the crazy Jack in the Box Doc that told us to go to him (note we never met that guy and thankfully because I think I would throat punch him, because with such minimal interaction with Jack in the Box Doc I sure have a story, he is the Medical Director of his specialized group…ok I’ll stop).

Anyhow…

(stay focused)

We got in!

Rich and I were pretty excited and optimistic to say the least. We were researching and reading and listening and researching more so we could be as knowledgeable as possible to ask him questions and take approaches that maybe have not been taken.

Yesterday was our day with H, we had 1 1/2 hours scheduled to hear what he had to say about all the information we have to date on Daphne. The room was small and I was hot as soon as I walked in. He had a 3rd year med student with him and she was primarily taking the notes while he talked to us and examined Daphne at various times throughout the time. A lot of wasted time spent on the computer and some incorrect information recorded.

Note when a Mom tells you she took her baby to the pediatrician the Friday before your appointment to get an accurate naked weight and height and your staff has different numbers that put her in a more favorable percentage than she actually is, LISTEN to her freaking MOM and use her numbers!

He basically helped us find a supplier of a previous supplement we were told to put her on, gave us a B complex (I asked our Metabolics Doc and he did not see the point), explained the MRI results and did not generically classify her Myelin degeneration as Leukodystrophy but “White Matter Abnormality”, stated he thinks there is an 80% chance this is Nuclear DNA, said clinical trials do not start until Age 2, he is on the Board/ Committee for a Mito Research group that reviews the clinical trial proposals, we have done everything there is to do, we are in good hands (I disagree) and there is NOTHING we can do, just wait for our genetic test (results expected in June) and that he has a suspicion she has a newly discovered Mito Disease called tDNA Synthetase.

Let me say I cannot even begin to describe the feelings I had at that time. DEFEATED and HEARTBROKEN comes to mind.

I have only asked prognosis and progression of the disease to one Doc, the Neuro who does not know Mito. His answer seemed legit that we did not have a baseline until the MRI and cannot determine the stage until another MRI. I asked H when she would need another MRI and he said in 6-7 months.

I speculate that since they are not telling us those things and since she cannot take anything but supplements and ask us if we have noticed additional regression or improvements from her regression that they are not hopeful since she is a baby. I try not to think that way but seriously what else would you think.

We have been told that all the leading research is happening on the East Coast but you have to have a diagnosis to get in and know where to go. There are lots of Mito Diseases and not all hospitals specialize in all of them.

To be clarify in case I have confused you, we are being told Daphne has a Mitochondrial Disease that is causing the issues with her brain and treating the brain issue will not work because you have to find out what is causing it.

Today is a tough day, as is any day we do not get the news we want to hear.

Thank you for all your texts, emails, FB posts, FB messages and calls. I truly appreciate all of them and even if I just respond with “Thank you!” I am really am so appreciative that you take the time out to think of us and reach out. it’s just so hard right now and I don’t have the words and most time the energy or words to respond with much more. Keep them coming. I need all the drive to fight that I can get!

Adelaide has been really great through this process, she is aware of what is going on and loves her sister so much.

We love Daphne so much and only want the best for her and we will do whatever is needed to make sure that happens.

Desiree