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

 

4 thoughts on “Frustrated!”

  1. You go girl and keep fighting for your special little ! Doctors and be confusing,sometimes condescending , but hang in there and if you to be “a pain in the ass” ( sorry Rich ). Then so be it.You’re a strong and determined woman , a pit bull in a beauty queens body .!! Hang in there, give Rich and Adelaide a big kiss from us. R&C

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  2. We pray daily for Daphne and think of her all the time. Our prays are also for you all to be given the strength and knowledge everyday and that when door closes another will open!
    Love you all
    Uncle Matt and Anut Joyce

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  3. Just wanted you to know that we (along wirh our small group at church) are praying for you all. Praying for divine wisdom as you work
    (Jenn’s parents)

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  4. Thanks for sharing. So much information to absorb. I can “see” you, Rich and sweet Daphne as you travel the appointments. Grandmama always believed in miracles; I’m claiming one for all four of you. Hang in there, honey. God bless.

    Like

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