August 2011 is a month I will never forget. This was the month of Hayden's first visit to a Neurologist. This was the month that the Neurologist called me and told me Hayden's lactic acid levels were "remarkably high." I remember calling my mom that night after researching lactic acid and stumbling on a Mitochondrial Disease website. I told her that night I knew that Hayden had this disease...it was the only thing that could explain all of her seemingly unrelated symptoms. I cried that night, so hard. Something in my heart was telling me that I was about to find out that something really was wrong with my baby. 14 months later, 3 surgeries, more ER and hospital visits than I can count, more blood draws and medical tests than any person should ever go through, hours upon hours of therapies, and so much more, and we finally have that diagnosis that I was dreading.
Hayden had a muscle biopsy and skin biopsy done back in July. I received an email that I was not expecting just last week with the results of the biopsies. Let me state first that I have kept hope alive in my heart that we would be told Hayden did not have this disease and that all the doctors must have been WRONG. I thought that because Hayden had been pretty stable over the past several months, that she must be FINE. Well, fine is relative, and I will get to that in just a little bit, but the email from Dr. Kendall did confirm the findings that Hayden 100% has Mitochondrial Disease. It's funny...I used to think about the name of this blog and imagine what I would do when I found out that she didn't have Mito at all. I guess I don't have to worry about that anymore. Anyways, the day I received that email, I fell to pieces again. It hit me that all the hope that I had held that this would go away is gone. The hard truth is, Mitochondrial Disease does not just go away. There is no magic pill you can take to just make it go away. Though we have no way of knowing what Hayden's future will hold, I can assure you that her future will include being fed through a g-tube in her stomach. Her future will include check-ups with a team of specialists for as long as we can picture into the future. Hayden's future includes us rushing off to the ER with each and every illness that comes her way, blood tests multiple times a month, and at least 3 hours of therapy every single week. Her future is packed with frustration and pain that I cannot understand, as I have never had to live with the things she lives with. I am her MOM...and all I want to do is find that magic pill and make this go away.
Every single person that is affected by Mito has a different story to tell. Our story is nowhere near as horrific as some of the families I have met, but it is OUR story. I am currently trying to process all of the information, and the fact that Hayden actually has a diagnosis. I remember our first pediatrician telling me that we would never figure out what was going on with Hayden and one day it would all just be a memory...I WISH. I do feel a sense of relief though, if that makes any sense. We have been chasing after this for so long, and to now have a Mito specialist tell us that there is no doubt Hayden has this and no chance that she will ever be re diagnosed in the future...that's relief. At least we don't have to chase anymore (well...kind of)! I have already had some people ask me what this diagnosis means for Hayden, and I will explain all I know here shortly. I guess I should write the actual diagnosis also...Mitochondrial Myopathy. I'm sure most of you are scratching your heads...:-)
The only way for me to even try to explain this diagnosis is to go step by step through our visit with Dr. Kendall today. First things first, we just love how passionate and caring Dr. Kendall is with Hayden. You walk in to meet with her and just know without a doubt that she CARES about her patients. She started our appointment walking through the medical issues that have come up since our last visit with her. We decided Hayden is not getting enough calories right now, as she's only 22.5 pounds. We will be back at the GI as soon as possible to come up with a new plan to fatten her up a little bit :-) There are also a couple of tests that have been ordered by another specialist that may help us understand if Hayden has issues absorbing the foods she takes in by mouth and tube. Hayden is still having the bad leg cramping episodes, so we will be talking to the Neurologist about trying a new medication to control that. She also still presents with low muscle tone and is not able to walk long distances. Dr. Kendall is sending us to Scottish Rite to get evaluated for a special stroller! I'm really praying that she is approved for the stroller...as it would be such a blessing for her! We are also being evaluated for private physical therapy to happen at least once a week, maybe more. This will mean she has occupational therapy for an hour a week, speech therapy for an hour a week, and physical therapy an hour or more a week. Thank goodness 2 of the 3 therapists come to our house so I don't have to miss my work day or drive all over the world! Dr. Kendall also told us to be sure to keep an eye out for her getting dehydrated. We will monitor bloodwork and obvious symptoms to find out if she is still dehydrating with all the liquid she takes in. Dr. Kendall did mention that Hayden is showing lots of signs and behaviors associated with Autism also. She said she is not diagnosing her with Autism at this time (she's only 2 and Autism is usually not diagnosed so early), so we will keep an eye on her. She mentioned watching out for autism regression, which would be her suddenly not talking or looking at us in the eyes and so forth. Time will tell about that, but we know for sure she has many behavior issues starting to come forth. Dr. Kendall did say that Hayden is showing signs of autonomic dysfunction and that we will keep tracking those symptoms as well. One new episode she is having is "the shakes" as I call it. From time to time I can just see and feel her body shake and feel her heart racing. She wants to keep a close eye on that also. I watch her like a hawk every day, so I am hoping between me and all the doctors we don't miss any signs!
After we went through all the new medical happenings, Dr. Kendall began explaining the results of the biopsies. I know that I can't even come close to explaining it the way she did, but I will do my best! Hayden's biopsies found mito proliferation, which is a pretty solid confirmation that she does in fact have Mito. Dr. Kendall described mito proliferation in this way...imagine trying to pick up a very heavy box, but you just can't. What do you do? You go and get help from other people, and together you lift the box. The cell is making more and more mitochondria because it realized that it doesn't have enough to do it's job. When the testing finds an abundance of mitochondria present, it means that Hayden's system is not working right, because there would be no other reason for her cells to make an abundance of mitochondria if everything was working correctly. Mito proliferation was also found in the initial buccal swab we did months and months ago. If you put both of these tests together, the results are the same, which is even more evidence that Hayden does have mito. The next bit of information is confusing, so feel free to skip ahead :-) The enzymology showed that Hayden has deficiencies in complex 1 and complex 3, combined with the buccal swab testing that found severe complex 4 deficiency. Dr. Kendall said that she doesn't put much weight into this information, because the big picture is that Hayden does have abnormal results that are indicative of Mitochondrial Myopathy. Even though we have the "diagnosis", we are still searching to find the gene mutation that is the cause of her mito. That may be confusing also...how could we know what she has, but not know the gene mutation that causes her disease?? Well, the tests available to search for mito gene mutations are limited right now. We did find some gene mutations in the previous testing we have done, however, there are of "unknown significance." You will begin to understand that mito makes no sense! It's not like other diseases where you only know you have it once they get the positive test result saying exactly what you have. Specialists are able to use these biopsies and other testing to find out your system is "broken" but that doesn't mean anyone knows exactly what kind of mito you have, or how you will be affected. We will continue to search for Hayden's gene mutation, because we know we stand to gain information about her prognosis and potential complications if we can find it, but I am here to tell you that we are one of SO MANY families that do not know their gene mutation right now.
This is why it is SO important to spread the awareness and participate in fundraising efforts! We want to have this whole diagnostic process become much simpler!! It shouldn't take 14 months to find out what is wrong with your baby. Of course, we would also love to find an effective treatment and CURE!! And on that note, Dr. Kendall did say that because Hayden has a definitive diagnosis, as drug trials open up to her type of mito, she should be eligible to participate!! Talk about WONDERFUL news!
I think I've hit the major points of the doctors appointment, so now I will attempt to wrap this up! Hayden is 2 and diagnosed with a chronic and progressive disease. We understand that though she is stable now, she may not be stable tomorrow. Mito is unpredictable. We choose to focus on Dr. Kendall's evaluation today, and that is that Hayden is OK right now. She has promised that she will be very upfront in letting us know when things are not looking good for Hayden, so for now, we will focus on continuing her therapies and medications and following up with the specialists we have on our team. We will focus on Hayden's current state of health, rather than where she COULD be years from now. I don't think there is any point in trying to focus on the future when no one is clear what her future holds. Hayden is the most beautiful, precious child of God and I know with certainty that He is carrying my baby through this.
I thank you for all the prayers and words and support. I never in my life thought that I would be sorting through the emotional impact of being told my child has a DISEASE, but here I am. God has shown me first hand that I am stronger than I ever knew...and there is nothing I won't do to see my baby thriving and happy. I don't know why my baby is going through this, but I can say with certainty that she is teaching so many people so much. She's my little fighter, my hero. She's perfect in every way and an amazing blessing. I am blessed, and I believe we are all blessed, to have Hayden in our lives. I love you all and will post an update when I get all of her bucket loads of bloodwork back!
~Emily
Excellent explanation of mito! Hugs!!
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