Now What?

Now what?  That’s the million dollar question.

We find ourselves in that place where nobody wants to live.  A place somewhere between a 90% diagnosis of something horrible and untreatable and an unlikely diagnosis that your child has that disease.  No doctor calls to check on your child; no medicine is given; no advice is offered.  All you know is that your child’s condition is worsening, yet the medical world is silent.  You’re sent back home with nothing actionable except for the things you can research on your own.

There isn’t a single word I know that can adequately describe this place.

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At least everybody can agree on a few things: 1) Katherine’s MRI shows that whatever she has is spreading throughout her cerebellum; and 2) whole-exome sequencing is the next step and might lead us to answers.

Just one minute after reading Seth Mnookin’s New Yorker article, “One of a Kind” about the intersection of social media, genomics and rare diseases, I contacted Matt and Cristina Might.  It was not until that very moment that I realized (and truly digested) the crucial role we, as parents, play in diagnosing our daughter’s rare disease.  The Mights have been very helpful and introduced me to other families on a similar journey.  We hope to meet up with them sometime in the future, perhaps at the upcoming Global Genes Rare Patient Advocacy Summit in Huntington Beach, California (we are still in the process of deciding whether or not we can attend)?

In short, I have updated my current job status to “rare disease hunter,” which involves taking on Congress and encouraging each member to join the Rare Disease Caucus.  Just today I received a message that Representative Andy Barr (KY-06) is joining the caucus after reading our blog and letter I sent him.  Hooray!  Congressman John Yarmuth (KY-03) is also a member of the caucus.  Anyone want to help get the rest of the delegation on the Rare Disease Caucus? It only takes three minutes of your time to submit a request. If they are already on the caucus then your message will be sent as a “thank you!”  Simple.

Click here to ask your Representative to join the Rare Disease Caucus. (Mention Hope for Katherine Belle.  Send them to our blog at http://www.hopeforkatherinebelle.com.  Put a face to rare disease.  Tell them rare disease is a non-partisan issue.  Tell them it matters to you.)

In the meantime, in addition to contacting all family members and collecting every piece of genetic information available while reading “Genetics for Dummies,” I have decided to take a new approach to treating Katherine’s “unknown/untreatable” disease:

1.  Next Tuesday we have an appointment with a local Integrative Medical Expert who can evaluate her body as a “whole” and address nutritional and supplemental concerns, including the brain inflammation we are seeing on her MRI;

2.  Beginning last week Katherine had her first cranial-sacral therapy session, which she throughly enjoyed and said, “no shot” when it was over.  (I also noticed she was less shaky following this session!) For those of you who are not familiar with cranial-sacral therapy, it is “a form of bodywork focused on the concept of ‘primary respiration’ and regulating the flow of cerebrospinal fluid by using therapeutic touch to manipulate the synarthrodial joints of the cranium;

3.  We are very seriously researching the possibility of hyperbaric oxygen therapy; and

4.  We plan to take her to an immunologist at Duke.

Moving into fall, on October 6, 2014, we are taking part in our first whole-exome sequencing (WES) study at UNC – Chapel Hill. We also hope to do another WES test through Baylor once our insurance company tells us how much they will cover (crickets have been chirping since the end of June).

Results for these tests can take up to seven or eight months.

We continue to do physical and occupational therapy once a week.  I would also like to find the time to add some music therapy into our routine.  And, yesterday we signed the papers to put our house on the market…finally!

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3 thoughts on “Now What?”

  1. You and Dave are amazing parents to one truly wonderful amazing little girl. I’m sure there are some days when you don’t want to get out of bed, but you do so because you know that your little girl needs you to fight for a diagnosis, and I have no doubt that one will come and in that not so far off future the way you are fighting for this. Keep going and know that you have lots of friends near and far who think of you on a daily basis and pray for you.

    You are all wonderful. Keep up the fight.

    Love you all.

    Shelby

  2. Keep strong, you are amazing parents, your love for your daughter has touched my soul and my spirit, daily prayers for all the family,even though we’ve never meet, I pray. Casie Mom.

  3. You are NOT alone!

    Whole exome sequencing is the best tool that medical science has to offer for parents like us. It wasn’t available when i first started my research journey with my son, but eleven years later… finally! The test itself takes about a year, but is well worth the results. Oddly for us though, our findings came about a month before anything had been published in medical journals about our son’s rare syndrome.
    The following month, he was one of four world wide. Three months later, one of twelve. Today he is one of sixteen.

    Even after you get a diagnosis, you won’t stop researching. It will just give you a new word to type in to Google.

    I wish you the best of luck in your journey. It will be nice for you to get a “name” to associate with the “face” of all the symptoms.

    Love and prayers,

    Sandie

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