Sunday, July 13, 2014

Mighty Thursday

This coming Thursday is very important.  It's a day that Josh and I have counted the days down to.  Over 7 months ago, we went to a genetics appointment where we decided to move forward with Exome testing on Carter.  In order to do this test, all 3 of us had to give a blood sample and we signed many consents agreeing on the steps of the test.  This is the last genetic testing that is available at this time and our hope is to find the mutation in Carter that would explain why he is so severely affected.  To this day, every single genetic test we have done, has come back normal.  All we know is that his Mitochondria in his muscle biopsy have mild defects, but it doesn't tell us why.  The reality is, we still have no idea why Carter has what he does.  Some people may wonder why we keep searching since there won't be a magic fix and it won't change our treatment options.  But to us, it is important.  The hardest part of this journey, is not knowing why.  We don't know what the risk is for our girls and their future children.  So when the mention of Exome testing came up, we didn't even hesitate to move forward.  It was on December 11th, 2013 that we sent our blood samples off to a special lab in another state and started the waiting process.  One month ago, we got the call that results were in and we scheduled the follow up.

The events of this next 2 weeks has lined up in such a way, that I have to believe it's all meant for a reason.  Some special reason.

With the 5K in Carter's honor fast approaching, we were invited to be on a segment of our local TV show called the Bart Hawley Show.  Luck would have it that the only day they can have us on, is Thursday.  We will leave the hospital from getting Carter's Exome results and head straight to the studio to be interviewed.  All the reasons that we are planning this event to raise money for research is what we are anticipating at this appointment.  Our biggest hope is that researchers can better pinpoint Mitochondrial mutations, treat them and ultimately, cure them.  That all begins with answers.  And here we are, going on TV to talk about the event and why it is so important to us.  I am nervous and excited for the entire day.  I have no idea what to expect or how I will hold up.  But in my heart of hopes, I hope that we get answers, that I hold strong during our interview on TV and that our event is a huge success so that as all these things line up, we can make a difference.

Stay tuned…

1 comment:

  1. Mitochondria is found in all cells containing a nucleus and this excludes red blood cells as red blood cells do not contain a nucleus or lysosome. The red blood cell is mainly responsible for carrying oxygen so for maximum (2 oxygen molecules per red blood cell) oxygen carrying ability there is no need for a nucleus or any other cell constituents. The mitochondria is the site in cells that carry out respiration in order to convert all the sugars in our body into energy so that the cell itself can carry out repairing purposes and allow movement. Mitochondrial diseases is a genetic disease and not always caused by genetic mutation- this is why sometimes genetic testing just gives negative results. Sometimes a maternal and paternal gene may just coincidentally clash together and cause this problem. Genetic testing in the form of blood is not the most reliable, in my country-China- they carry out stem cell testing by taking samples of bone marrow under no anesthetics at all and do gene testing from those cells.

    As a pharmaceutical chemist, from my understanding, we have 23 pairs of chromosomes, of which only certain pairs switch on in certain parts of the body. The stem cells contain all 46 chromosomes and is the best place for genetic testing. People who have mitochondrial disease can live to at least 60 years old, but usually don't make it to their 70th birthday. I know a couple of friends who have family relatives with mitochondrial disease and have been on various medication to treat the genes that caused the problem to occur. They are currently nearing their 70th birthday, which of course is a miracle. I have always, as a chemist, told many doctors to allow terminally ill patients to breathe oxygen every 2 hours, then change the time so its longer and longer until not required. Oxygen on its own is a stronger oxidizing agent and will kill or damage cells very quickly, and by contrast by not having any oxygen does kill the body's cells quicker. The air is only approximately 20% oxygen, 70% nitrogen, and 10% of other gas traces such as methane...etc... and as a chemist I know more than what a doctor knows. I allowed several of my family members to understand the whole process of treatment in depth and allowed my terminally ill nana (who died a year ago) to live an extra few weeks before death. I can always try to contact them for help and guidance and treatment of these disease though there is no such cure yet. My research is based upon medicine and finding cures for incurable diseases and I can do my best to investigate further into this.

    I feel quite sorry for you, and I know what it feels like to have someone living with such disease. I am currently residing in the UK where I am carrying out my research. Looking at the Nobel Prize winners in Medicine, they are all chemists (i.e. biochemists and Pharmaceutical chemists).

    God bless you! I will make sure that a cure for all incurable disease is found in our children's lifetime.