Friday, December 30, 2011

A New Lead and New Hope for 2012

As 2011 comes to an end, we have new hope for 2012. A few weeks ago Holly and I were talking about our future family plans. With so much uncertainty we have yet to make any definitive decisions as far as having another child. I asked Holly to take the research reins and continue where I left off. I felt as though I had reached my breaking point and couldn't mustard up the energy to continue the research. The mental and emotional fatigue the research has taken on me was too much to continue. Plus I thought a new set of eyes and renewed energy could help propel us into a new direction. I don't think people realize how overwhelming and difficult it is to research diseases that are so rare. And sadly, it's really up to Holly and I to continue the fight.

Holly went back and revisited emails, lab results and medical records. She started to identify a rare cause to EMEE that we were unable to pursue. It's called Sulfite Oxidase Deficiency. I can't even thoroughly explain what it is as we barely understand it ourselves. But essentially it is a metabolic disorder that has very similar symptoms to what Grace had. There were some abnormalities to Grace's urine tests early on that in hindsight could be bringing us closer to this diagnosis. It is a condition brought on by a gene mutation in which Holly and I could both be carriers. Unfortunately, we were in the process of getting enough urine from Grace for the test when she passed away. So we were never able to test for it.

Holly has been in touch with Grace's geneticist, Dr. Lipson, who is seeing if we can test for it via DNA, but best of all, using only our DNA. Meaning Grace's DNA samples that we recently stored would not be needed. We've really been wanting to find more testing that Holly and I could do and not use Grace's precious samples and this could be it. Dr. Lipson has been in contact with Duke University, where they test for Sulfite Oxidase Deficiency to see if testing can be done with our DNA samples. If so, this could lead to a definitive cause of Grace's disorder and subsequent death. It would also tell us the likelihood of having another child with the same disorder.

I am incredibly grateful for Holly taking over where I left off. When I felt I had reached my breaking point it's nice to know my partner is there to take over. The next few weeks could be very telling for us and give us the answers we need.


  1. "you have to go through the deepest valley in order to start your way up the mountain again"
    I keep revisiting your blog and reading your posts. I realize I can't possibly truly relate what you both are going through, and for that I feel blessed. I do recognize that you are a strong family and you keep looking ahead, at the same time looking back on the beautiful time you have shared with Grace.
    My hope for you is that 2012 will be the year where you can start your way up the mountain again. Take time to take in the journey and every now and then stop, turn around and enjoy the view. And may you travel with Grace.

  2. My best wishes to you and Holly for the New Year. May 2012 bring you closer to the answers you're looking for. You both remain close in thought. Happy New Year!