Memorial Day Weekend Keeps Going and Going

We enjoyed the long weekend!

Mostly…..

Adelaide had a sleepover and Daphne decided she would stay up till Midnight and was super fussy.  The trick that seems to work with her when she gets to the point of over tired, you missed her window, the kids woke her or she knew other people were in the house mood is to let her cry for about 10 mins in her crib (don’t freak out, we watch her on the monitor the entire time) then I go in and rescue her and rock her to sleep.  It kills my back and it gets hot holding her so we have this routine of swaying in front of the humidifiers cool air then turning around and slowly moving to the crib where I then break out my super skills and gently lay her down without waking her.

We enjoyed a cookout with friends with ceviche and s’mores.

Adelaide, Daphne and I enjoyed the Nordstrom Half Yearly Sale and lunch out while Rich worked.

We actually were able to finish all the house chores (mainly mountains of laundry) and still have another day to relax.

Then Monday night Daphne was up most of the night not feeling well.  Her friend at the babysitters was sick with a cold and pink eye so we were bracing ourselves.

I stayed home with her Tuesday to get her better and let her rest.  She slept a bunch that day and her appetite was pretty good considering she felt yucky.  I also took her to the doc just to make sure if she was getting anything I would get ahead of it before it exploded.

We have learned that with Mito kids its not good for them to get sick, it can linger for much longer in their bodies and more seriously it can cause a regression or a mito episode.  We have been walking on eggshells with Daphne since the Docs have pointed towards Mito because stress can also cause the above as well as their routine being off, nutrition, etc.  The list is too long and seemingly unfair since it covers just about anything in life but we are doing our best with it.

Monday night came around and Daphne was just a little better but not much so yet another day at home for us and this time I had to call in reinforcements around lunch because she was not having it and I was trying to work and tend to her and she needed a fresh face so Daddy to the rescue.

Have I mentioned yet how much my back hurts?!

The little stinker fooled us.  She was not 100% but was much better.  I have been home from work for 5 days now and the cabin fever is pretty high.  All will be back to normal tomorrow but I am sure Daphne will not let tonight be easy.

Anyhow I really just wanted to write a little to basically state, no real news on Daphne and my poor back 🙂

Here is a video from tonight (excuse my look) Daphne discovered kicking Rich earlier on the changing table and thought it was hilarious that she wanted to try it out on Adelaide.

She got the reaction she was looking for 🙂

 

 

 

Daphne’s 1st Birthday

On Sunday May 22 we celebrated Daphne’s 1st Birthday with 60+ of our closest friends.

The weather was windy and chilly, not our typical So Cal weather and unfortunate since we were hosting it at our Association so the kids could swim, play and run around, they did not seem to mind the weather.

Hosting a party at a location that does not do any setup for you is a lot of work, especially when you have Pinterest pushing you to have the perfectly decorated and themed party.  So stressful but I think I WE did a great job!

There were over 25 balloons that were a twisted mess, red table cloths with black plates and green silverware to look like a ladybug with little blades of grass and the cutest little favor bags if I can say so myself.

We served Mexican Street Tacos, Tamales, Beans and Rice with all the stuff to make them yummy.

And then we had the Birthday Cake (thank you Costco) to eat and the Smash Cake that I made.  I was shocked that after Daphne clubbed the cake a couple times (yes I could not handle more than twice or the mess so I stopped her) people ate it.  Everyone loved it and I have to say it is the easiest cake to make and from one of my favorite cooks.

I actually do not like the rum version of the cake but Rich loves it.  For Daphne I just added 1/4 cup more of both oil and water to replace the rum and did not do the glaze.  It is the moistest cake I have ever had!

Daphne got so many presents and so many people wanted to hold her, I managed to let go a little but she is not a fan of being passed around and luckily makes that pretty clear so I don’t have to even ask for her back, her crying does it.  Sorry folks, I am stingy with my baby and she knows it!

I am sure I have rambled enough and all you want to see are the pictures.  It was a great day and we were so blessed that so many people decided to spend it with us and celebrate Daphne’s Day.  Here’s to many more Happy Birthdays!

The past 12 months…

 

Daphne cannot sit unassisted, I am just a MASTER at balancing her and snapping the pic super Fast!

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The girl can squirm though…IMG_2351

We have done this shot from birth and thankfully she still tolerates it.IMG_2355IMG_2364IMG_2389IMG_2368IMG_2378

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

 

A Day together

Yesterday was a very tough day for our family.

We all stayed home and spent time together.

So to brighten the mood I tried to catch moments of Daphne laughing and smiling but the little stinker always stares and will not crack until the phone is out of sight.

daph

She loves to giggle at our shadows when walking

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She is so cute when she wakes up in the morning.  I tried to capture it but she saw the camera

Rare

So it is with a very heavy heart I write to say the MRI results were not good.

Rich and I received a joint call from the Neurologist yesterday stating that Daphne has Leukodystrophy which is caused from an unknown metabolic/mitochondrial disease (the more serious ones) and the regression that we have seen is a result of brain damage.

What is Leukodystrophy?

Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.

http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

With that being said, the sense we get from the Metabolic doctor is to focus on finding the cause Mito suspicion. We have been researching and talking to doctors daily. We started Daphne on a supplement of Levo-Carnitine last week and have been trying to track down the other two reccommneded Coenzyme Q10 and Riboflavin. Finally after a week I have found a pharmacy that carries the closest strength to what the doctor wants to put her on.

The most hearthbreaking detail is that there is NO TREATMENT, nothing proven to help, some clinical trials maybe that might help but basically it will only slow the progression of the disease, MAYBE. My heart is abosultely broken thinking of my life without my sweet baby. Thinking of Adelaide losing her sister. I love my girls with all my heart and they are both supposed to be around forever and live a perfectly healthy and happy life and get married and have kids and everything in between.

I am sorry for ignoring most of your texts, calls or facebook messages, this has been a lot to handle and all I want to do is hold my baby, watch my girls together and take pictures and videos of every second so I never forget these moments.

Daphne is a typical baby for the most part, she is sweet and loving. She loves her big sister, loves to laugh at her, bite her, pull her hair and mostly hang out in her room because it’s the coolest, she is the coolest.

Daddy is also super fun, he plays with her all the time and Daphne loves that one on one time as well as laughing at him from across the room.

I may be her favorite, Adelaide is pretty darn close if she isn’t her favorite but for this post I am taking the credit of being her favorite. I need that right now.

I had run so many versions of this post over in my head and this is not at all how I wanted to write it but that’s how things happen right?!

Desiree

MRI

I know I still need to write the post on “what’s going on with Daphne” but I am still not ready to put everything that we have gone through into text because I will cry the entire time while writing it and when I have a good day of no crying I like to take advantage of that and I am sure I will read it over and over again which could possibly make for more crying days than normal and Ain’t Nobody got Time for that!

Yesterday Little Miss Princess Poo had a Brain MRI.  The name of the procedure is scary enough without adding the details of with and without contrast dye and general anesthesia.  We had put this procedure off for sometime not thinking it was warranted but with some changes in Daphne and an urgency expressed from her Neurologist last Thursday we found ourselves getting it done May 17 instead of June 13.  I only had a couple of days to wrap my head around it, have one last weekend in my eyes with my sweet innocent baby prior to anesthesia because in my mind she was going to change, the worst possible scenario was going to happen (I don’t think I need to write what my fear was, I think you know), adverse medication reactions, then add in Malignant Hyperthermia which I learned of as a possibility, so……Yeah I was a mess.

So the day was upon us, we woke Daphne at 4:40am to get her last meal in by 5am, put her back to sleep till about 7:30 when it was time to leave the house. Dropped Adelaide off at friends to get to school and arrived at the hospital by 8am.  Registration like at every hospital took over 30 mins and during that time we thought that was the worst wait.  The process was still much smoother than the other hospital we have visited with Daphne so for that I am thankful.  The staff seemed to be much nicer as well.  We then waited in the Surgery Pre-Op room FOReVer!  We answered all the same questions that Rich had already answered over the phone and watch the clock, had the nurses check on the status of the Doc and found out that the machine was down and it was going to be an additional hour before her exam would even start!  I was so annoyed but when you’re in the moment all you can do is distract your baby and try to make her fasting as easy as possible.  Finally after about 1 1/2 hours we walked her back, I held her while the Doc gave her the gas then we were sent on our way, I broke down.

To pass our time we went and ate some food (if it can be called food) from the hospital cafeteria and yes we felt a little guilty that we could eat and Daphne could not.  We went back to the waiting room and the Doc finally said everything went great and she did well and we would go back with her momentarily.

In recovery the nurses were very sweet.  Daphne was drowsy and talking a little, I think annoyed that some strange lady was holding her so I grabbed her, Rich got her bottle heated up and I fed her.  Next step was just watching her to make sure she was coming out of the anesthesia without issues and then to get all the tape, IV catheter and monitors they had hooked to her off.  The tape was a nightmare, there was a ton and directly on her skin and she was not happy with removing it, the nurse also cut her IV cord so instead of giving her fluids it started drawing blood and then when we pulled it out, blood went everywhere, we got it stopped rather quickly.

We dropped the CD off at the neurologists office hoping he would read the results the same day.  I hope we get a response from him today and pray that it is NORMAL!

Daphne had a bottle at the hospital, had lunch when we got home and another bottle, took a nap and then had dinner and another bottle before bed, she almost caught up on her eating.

Daphne this morning and even last night did not seem to show any signs from her day and for that I am thankful!

Desirée