As many of you know I seriously suspected that George had Mito and I do believe that it probably contributed to his death in some capacity...how, I'm not really sure. There were many docs and others who also felt he had this but there was no way to confirm it in his short time here on Earth. Michael and Joshua both have confirmed diagnosis of Mito. The diagnosis for Joshua was not an easy one, requiring a trip to Georgia with major surgery that removed muscle from his leg at a year old. Even that was a shot in the dark at a chance to find out if he had the disorder but thankfully it confirmed what we had suspected. Not everyone is lucky enough for that and it is a shame that it has to be so invasive to get a diagnosis.
All of that being said, the boys have been participating in a research program at St. Christopher's Hospital for Children in PA. This research is being used to find a better method of diagnosis through a simple mouth swab. Michael was actually diagnosed this way and did not have to endure the same things Joshua did in order to get a diagnosis. Unfortunately at the time the doctor running the study was not doing babies so George was never tested and the cells that are left at the coroner's are from him after he died(not a valid way to test for the disease at this point in time). It was and still is so hard for me to not have answers where this was concerned and I really hope that someday others will have answers that we don't just because of our participation in this research.
Today our whole family went up to St. Chris and met with the doctor running the study. He swabbed everyone in the family to add us all to his study. Our family is "interesting" to him due to the half sibling in Richard and Hugh's family history with others possibly affected. I contacted him after I had a bad reaction to anesthesia and wound up in the hospital for 3 days after surgery to only have no answers and I asked him if he would be willing to swab both Hugh and I. He told me whoever I brought he would do, so we all took a trip into the city today. I don't know if we will ever have answers for ourselves but I pray that this helps others that are coming behind us and will unfortunately know the diagnosis of Mitochondrial Disease.
I really believe in his research and have also asked him if he has set up a fund yet. As of now they haven't but my suggestion has prompted them to do so and it is now in the works. This disease is horrible for many reasons but most of all because there is just not enough known and even less doctors willing to treat patients that are competent doctors. If you are an adult, there is only one doctor in our area working with patients and she is not taking any more patients. It is an exhausting disease for many docs and patients require a lot of time and TLC which most docs don't find in their best interest due to lack of payment from insurance companies. Patients can't even get the medications they need covered by insurance not to mention have the ability to see people who specialize in the disorder.
With the research taking place in our own backyard I feel in a way that it is our duty to participate in order to help others, not to mention hopefully get some answers ourselves. I also want this to continue so that it is available to other people. Right now it is at no cost but after some conversation, I have found out that the doc may have to start charging patients even though he doesn't want to. Researchers don't make much and truly work because of their love for their project. Even if it is a total flop, it is still a success in my opinion because they found out one thing that didn't work and it is still narrowing down the field of possibilities. Right now he is so overwhelmed with people wanting a diagnosis that he can't even begin to expand what he is already working on like he wants to due to funding also.
As Ken, the boys old pediatrician, says "Mito sucks!" and he knows first hand because of his own son having the disease. There are so many struggles that patients with this disease face and it is only compounded by a general ignorance by a good chunk of the medical community and their "I am always right because I am a doctor" attitude. We need good people willing to help and listen because they care not because of the dollar signs. Having been a medical biller, I totally understand the struggles that these docs face and why they opt to avoid patients with the disorder and it is a shame. My biggest worry is that my children will survive but have no one to advocate for them and be their doctors as they get older.
This disease is so random and vast that we need so many more hands working on this. A child who is severely affected with feeding tubes, vents, and all sorts of other equipment/needs can outlive a child who "looks" perfectly healthy with limited needs. There are kids who die at all ages, some with specific problems and others leaving with no answers at all. The only thing that people with this disease share and have in common is just the actual name "Mitochondrial Disease" I will never forget that my biggest fear was waking up to find one of my children dead and no warning and now I am living that hell every single day.
It really is a shame that this is how it is right now. There is not only alienation from the medical community but also among the families coping with this. Somehow there is a sense of my child is sicker or this need to have others validate your suffering or that of your child. This of course isn't the way for everyone but there is quite a bit of this and I have experienced that first hand and even lost a friend over it after George died. As a parent of children who "look" fine, you have a whole other set of struggles then those who have children who it is apparent are affected. There is no better situation because they each come with their own positive and negatives.
For us, we know he had battled this disorder even if it did not cause his death. Every single day he struggled and suffered from reflux, feeding problems, and susceptibility to sickness. He was my sickest little guy but no matter the case, he was loved and it hurt just as much to loose him as it was for anyone. There is no better or easier way to watch your child die and be left here to cope with it and have to find a way to live without them in your life. I pray that our participation and that of those all over the country who have sent in samples, helps to get answers someday, if not for us but for someone else. I sat there today with a heavy heart just wishing I had answers with George but also knowing that somehow we are farthing this along for others. If anything George has made me more passionate about participating and that alone is a gift he is still giving to the world. I would not trade any of my kids for children without the disease so we push forward and pray we can help others that find themselves in our situation some day but hopefully their road will be a little easier because of our struggles. Somehow, feeling this way justifies to me all that we have been through.
George's Guardian's of Grace Projects
Stocking project is now in full force collecting donations. We have a list of the items we can use. You can also choose to sponsor a stocking in memory or honor of someone else. We will include a paragraph or two in the cards we place in the stockings to let the recipient know about the person that means so much to you. Our paypal account is posted on this page and ready to take donations. Email us for a list of items needed or with any questions or information you would like included on a sponsored stocking/donation.
Video Tributes/Celebration of Life Footage
Here is a link to a video tribute that was made by Richard's dad in memory of George. Get out your tissues!
We Finally have footage from the service up and running:
It is in 4 sections running about 17 mins each. If you were unable to attend, you can now see what you missed. We were so blessed to have everyone there with us in person and in spirit!