I don’t know why I’ve put off this update for so long. I think I just needed some time to let it all (Allison’s diagnosis) soak in. I spent a week or so gathering information and calling all Allison’s doctors, making sure the diagnosis didn’t impact any of her current treatment. So far nothing has.
So here it is: Allison has a genetic disorder, also known as a metabolic disorder and a mitochondrial disorder, called Rotenone Sensitive Complex I and III Deficiency. So, what does all this mean? Well, I’m not sure. No one is. Basically Allison’s cells cannot break down nutrients and turn it into energy. But there are three tiers to this disorder (from what I understand), one affecting the brain (not Allison; she just had her fifth normal MRI), another affecting the heart and liver (not Allison; she has always passed ECHO’s and labs perfectly), and the final affects the muscles. Although we haven’t spoken with a doctor about what tier Allison is in, we think it clearly must be the one that affects the muscles.
I’m not sure I would want to know, but no one has been able to give us a life expectancy estimate because mitochondrial disorders vary so much; no two kiddos are alike. But one thing is for certain: we must have our other kids tested. We probably won’t do this soon for two reasons. First of all the test is still new, and therefore very pricey. The other is we won’t need to know until they are ready to start their own families. They will probably all have to go through genetic counseling before doing so. I wasn’t very good at biology, but the odds are two out of the three other kids are carriers, and one is not. Both Greg and I must be carriers. I do get a little comfort out of this, and I am able to stop wracking my brain, thinking it was something I ate or inhaled or did or didn’t do while I was pregnant to give Allison a life like this. Her disorder is not a result of a birth injury or a lack of oxygen. It was just in the genes.
Treatment: Not much. Diet and vitamin supplements. We are still waiting to see a biochemical doctor at Mott’s Children’s Hospital in Ann Arbor. When we see her, we will also see a nutritionist who specializes in metabolic disorders. I did speak to this nutritionist over the phone, and although she has to do some looking, she thinks the formula that Allison has been on for over a year is the complete opposite of what she should be on. At first, we were trying to get Alli J to gain weight. Now she is a big fat baby who doesn’t burn calories like other two year olds. Because her body cannot process her food intake correctly, she needs something that is easy to break down, something low in fat. Her Elecare Jr formula is high in fat. So this whole time we’ve been doing her a disservice bulking her up. She has also been started on four different vitamins. These are supposed to make up for what her body cannot do, and I noticed a difference right away. She speaks much more, plays for longer periods of time, and kicks her legs a lot more. She is not able to sit yet, but she has really mastered rolling from her back to her belly in the last couple of weeks. Now if we can only get her nutrition in order…
Another thing about her food: We have been dreaming of the day that she can eat enough on her own to ditch the feeding tube, but from what I’ve read, eating at a slow rate all day and night is easier on the body. It would be hard for her body to fast, then eat a lot of calories at once, fast some more, eat a lot, and so on. So maybe ditching the tube isn’t such a good goal. Oh, how I hate carrying around that backpack and having my child on a leash, but, if it is better for her…
We are not sure at all what to expect in the long run. Will she ever be able to sit? stand? walk? potty train? drive? be independent? We pray a lot. We are optimistic. We have seen such a difference since February when we started the Herbalife aloe water, which now makes sense. Herbalife is cellular nutrition – Allison’s cells are dysfunctional. She hasn’t vomited since we started giving her the water. I’d like to see what else Herbalife can do for her, but it is hard since I have to keep track of her daily caloric intake, potassium intake, and sodium intake. (Sidenote: Herbalife has helped me lose almost 50 pounds. If you want more details about Herbalife, send me a message.)
So we are going ahead with the construction of our house, a handicap accessible house. Our goal is to be in by Allison’s third birthday. We are trying to balance our optimism with reality, and plan for a life in a wheelchair. Wide hallways (actually no hallways), big closets for equipment, large bathrooms with accommodations, and just space, space, space. We will also have a ramp from the inside of the garage to the door. I’m trying to convince my husband to build a therapy room with a therapy pool, but he is maybe too optimistic about what Allison will be able to do. Just the other day, when getting estimates about patio pavers, I asked him if we’d have a ramp from the back door. When he asked why, I was slightly annoyed, and said something like, “Well, how is Allison going to get outside?” He responded with, “She’ll walk.”
An old lady stopped me in the store the other day to tell me how sorry she was for me, having four kids and a special needs one to boot. I don’t feel that way. In fact, my big three are the best thing for Allison right now. They are getting her to talk, to eat, to sit, everything. She loves them. Actually I think things would be more challenging if Allison was our first baby and we would have made different family planning decisions based on her needs. I don’t want people to feel sorry for us. It is what it is. God put Allison into our family for a reason, and fortunately we are able to give her the support she needs to have a quality life. She brings us so much joy with her spunky little personality and great gap-tooth smile. I’ve always thought of Greg and I as pretty good teammates, but this situation proves it. By the way, we will be celebrating 13 years of marriage two weeks from now.
As August approaches, we prepare for Mason’s football season and 4th grade, Morgan’s entrance to 2nd grade, and my Chicken Little, Avery Janelle going to school. I prepare for my tenth year at OHS. I’m not panicked yet, but I always freak out a little on the first day of August, when I feel the pressure to plan out every minute of every period for the entire first semester. My teacher friends know what I’m talking about: August means summer is over.
Drop me a little message if you know anything about mitochondrial disorders, handicap accessible houses, or if you want to know how Herbalife can change your life.
