Appointment in Houston with the Mito Doctor

Tucker went for a follow-up appointment with the Mitochondrial Specialist a few weeks ago. I know many of you are concerned and wondering how it went, and what it all means. Back in June 2009 a specialist suggested that we get genetic tests run on Tucker, by this point he had just turned 3 and it was obvious that his delays and medical problems were not due to prematurity alone. So after months of testing, we ruled out many things. The tests kept pointing to a mitochondrial disorder, but the geneticist was not sure if we should proceed with further invasive testing. Mitochondiral disorders are a relatively new field, they are hard to understand, and very hard to diagnose. The dr. started Tucker on 3 supplements, CoQ10, Creatine, and Calcium. This is the first step in treating mito. There are only a few mitochondrial specialists in the country, one of them being in Houston at Memorial Hermann hospital. A friend of mine (I met her through the March of Dimes) has a son about Tucker's age with mito, and she suggested that Tucker see the specialist in Houston. She said that if Tucker did not really have mito, that would be great to know, and if he did have it, this doctor is the best doctor to help us to manage it. Kids with mito have very specific protocols for being put under anesthesia (which we don't follow right now) and how they get nutrition (which we also don't follow right now), so a diagnosis could potentially change many things. So i made the appointment then waited...In January Mom, Gina, and I took Tucker to Houston. I compiled Tucker's whole life story (which is fairly long for a 3 year old!) and sent every medical record he had to Dr K. After a consultation, she said she thought Tucker was far too healthy to have mito, and perhaps more genetic testing would help. Tucker got blood testing and urine testing that day, but we left Houston feeling okay. We still did not have an answer, but we felt confident. This dr deals with mito every day, so if she said he didn't have it, we felt good about her opinion. So we made a follow up appointment for March. Again, Mom, Gina, and I took Tucker. This time we stayed with my friend Missy and her precious kids in Houston the night before the appointment. Samuel has mito and has to be monitored very closely. We knew there was a chance he could be in the hospital, so we were so glad to hang out with their family. We went to the appointment and updated the doctor on Tucker's new problems. (His airway has been very irritated, he is going in on April 8th to get his tonsils and adenoids removed, as well as getting his airway strengthened, depending on how bad it is. He has very bad sleep apnea and has been having trouble breathing.) The doctor told us the majority of Tucker's tests came back normal, but his Pyruvate level was double the normal rate, which is very suspicious of mitochondrial disorder. She seemed surprised, and she asked if we wanted to continue further testing. We do, because the tests will help to learn as much as possible about what type of mito disorder, as well as the extent, and the possibility of this appearing in future children. The next step is a muscle biopsy as well as a lumbar puncture (spinal tap), which will both be performed while Tucker is under anesthesia. These will hopefully take place in June, then we will get the results in August. So at least two more trips to Houston are in our near future, with lots more waiting. We did not expect this answer at all, the more I learn about mito, the more confused I get. It can take on so many forms, so there are some things that are just so "Tucker" about it, and some things that are not. We have wanted an answer for a long time, but we don't want this answer. We know that Dr K must really suspect mito, because she does not take this invasive testing lightly. You can read about mitochondrial disorder here: http://my.clevelandclinic.org/disorders/Mitochondrial_Disease/hic_Mitochondrial_Disease.aspx Basically, if you remember the model of cells in biology class, the mitochondria are the "powerhouse" of the cell. They do the work. When there is a problem with the mitochondria, the whole cell and organ can shut down. The mitochondria of any type of cell can be affected, so it can lead to problems with neurological cells, muscle cells, etc. Each patient is affected differently, so two cases of mitochondrial disorder are rarely the same. Thanks, Leigh WELCOME TO HOLLAND by Emily Perl Kingsley I am often asked to describe the experience of raising a child with a disability- to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this... When you're going to have a baby, it's like planning a fabulous vacation trip -to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."" Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy." But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place. So you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around... and you begin to notice that Holland has windmills... and Holland has tulips. Holland even has Rembrandts. But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned." And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss. But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ...about Holland.