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?


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.


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

Pirate Baby

It’s not like she doesn’t battle with enough.

Daphne had her follow-up with the Neuro-Ophthalmologist this week and I wanted to discuss something we noticed a little over a month ago that we just called “Wonky Eye.”

We talked to her regular Neurologist about it but he could not get her to repeat it which was good because it was minimal but it has been more apparent lately and I even grabbed some pics to show the doc in case she could not get her to do it.

Now she has what she calls drifting outward which is common in patients with neurological conditions.

So we will try to correct it and strengthen each eye with Patching Therapy (1 hour per day per eye), maybe glasses but right now she will rip them off and eat them…..ABSOLUTE last case scenario is surgery.  We will follow-up in 2 months to check her progress.

I have ever said I HATE HATE Mito and wish it did not exist.  This is simply not fair!

Wonky Eye on the Right

Mito Family Social

Rich and I will be hosting a Family Social for those with Mitochondrial Disease.

This is going to be hard to meet other families, face to face, who are going through this.

Right now we don’t know anyone else.  I have talked to some families online but this is going to be in PERSON!

I usually love these kind of events and networking and talking, it’s something I am good at, but I have to say I am a little nervous. Rich is not looking forward to it, this is not in his wheelhouse at all but we’ll get through it and I’ll report back on how it was.

So I have a favor to ask.

I know my blog has a lot of traffic. I am talking almost 5,000 views and 1,000 visitors since it was created in May. That is incredible and I feel absolutely blessed to be spreading awareness about the disease as well as sharing things about my family.

I would love it if you could pass the blog along to more people and to hopefully reach families dealing with similar issues even if not Mitochondrial because a health condition with your child is never fun or easy and you need as much support as you can get.

I would love to see a large attendance at the event and I am certain you can help.

Thank you so much for being loyal followers!


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: and

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.



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!