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

In His Words

My husband is a bit more private than I am.

I need to talk to think and learn and process.

He is so much better at many of these things than I am and doesn’t need the talking.

I wanted to share part of an email he wrote that shows in his words what is going on and how good he is and putting all of this together.

It’s been a rough couple days, I’m sure for you all as well, made even more difficult by feeling far removed. So I thought I’d update you on what’s been going on.

The four of us spent the last two days together at home, mostly playing with Daphne and alternately laughing and crying. It’s been a true mourning period as we grieve the loss of Daphne’s normal life, which she almost certainly will never have. Sleep is scarce and idle time brings waves of heartbreak. We are holding up well materially (Adelaide is happy and well cared for, the house is clean, dinners are on time, etc.) so please don’t worry about that. We do have supportive friends and neighbors that have given assistance there.

But the time for mourning is coming to a close. It was necessary and a little therapeutic, but it is not helping Daphne. She is still with us, and we aren’t giving up on her.

All we know for sure now is that she has a metabolic condition that is affecting her brain development. The specific metabolic pathway that is deficient has yet to be identified. The metabolic specialist is confident that the genetic tests that are pending will nail this down. We expect those results in about 2 weeks. Because these conditions are so specific and rare, it is usually the case that only 1 or 2 research groups in the country are actively working on any given condition. Our hope now is that the results of the genetic test will allow us to get hooked up with such a research group conducting clinical trials of treatments.

These diseases are considered progressive, but they often don’t progress in a steady manner. There are periods of relatively normal development punctuated with periods of regression. We witnessed this firsthand with Daphne. It is also the case that periods of regression can be triggered by external stresses (infections, fasts, etc.). While we wait for the genetic results we are doing all we can to give Daphne’s brain what it needs to develop (vitamin supplements, protein rich diet, additional nighttime feedings). There is always the hope that Daphne has enough of a residual amount of the deficient co-factor that she can continue to develop.

Desiree

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

First Blog Post!

Hello Everyone!

You may be wondering what happened with the plan to use the BlogSpot address….well that blogging tool was limited, that site had been dead for 5 years (I still need to print it for Adelaide), it was complicated for some to get a username since I was restricting access so I decided to start FRESH.

I have big plans for my blogging, extra time (yeah right!) and hobbies that are more than just shopping.

Since we live so far from friends and family and we have a lot going on, this will be a great way to stay up to date.  Don’t think I don’t love you all and enjoy talking to you but providing updates to everyone can get kind of hard so don’t take this as impersonal think of it more as an in-depth view of “what’s going on” so when we do talk or text we can skip all the exhausting details and get right to the point.  I hope you all think it’s as much of a win win as I do.

Now to figure out all the features on this bad boy and get some pictures posted.