Now What?

Thankfully, we were released from the hospital last night. But we don't have many answers or any idea of what to do next. The neurologist we saw, who is a partner of Dominic's doctor, believes he has an underlying metabolic disorder. He came to this conclusion based on where the damage is in his brain and the results of some of his metabolic testing. Of the hundreds of disorders they tested for, some came back abnormal, but none came back diagnostic. But he believes his symptoms, including the IS and seizures, are consistent with Mitochondrial Disease. I didn't really know what a metabolic disorder was, so I turned to the Internet and found that metabolic disorders refer to a broad array of medical problems caused by inherited genetic defects that interfere with the body's metabolism. While there are thousands of metabolic disorders, each caused by a different genetic defect, they cumulatively affect about one in every 4,000 people. Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.

Glad to be home, in our own bath

The Internet can be a good and bad thing. I got my answer but I also read about a few of the more well-known metabolic disorders. Take Tay-Sachs Disease for example - this is a deadly disease of the nervous system in which the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, especially nerve cells in the brain. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.

You can imagine how I felt after I read that. While I don't believe Dominic has this particular disease, I've realized that a metabolic disorder is a pretty scary diagnosis. It's very difficult to figure out what metabolic disorder he has because there are thousands of them. And the devastating part is that even if they can eventually find out what disorder he has, there is no way to treat it. It's just the way his body works and there is nothing they can do about it. I asked the neurologist if the damage to his brain is reversible and he said no. Of the parts that were damaged (which is at the top of the brain stem), some cells were "dying" but not dead. So, those could potentially get better. But most of the cells are "dead" and there is no way to reverse that damage. I asked if there could be further damage and he said that is a good possibility. If it is something metabolic that is causing a lack of blood and oxygen to his brain, there isn't much they can do to stop it.

Because he thinks Mitocondrial Disease is a possibility, for now, the plan is to start Dominic on a Coenzyme Q "cocktail" consisting of vitamin B6, Arginine, Coenzyme q10, folinic acid, riboflavin, and thiamine. While there is no cure for mitochondrial disease, many types of the disease including mitochondrial myopathy, mitochondrial cytopathy, MELAS, PDCD, or Complex I, II, III, and IV are responsive to specific vitamin and supplement therapies. He is also recommending Dominic begin outpatient occupational and physical therapy at least 2-3 days a week at Spectrum, in addition to the therapy he already gets through Early On. This can only increase his chances of development. He will discuss everything with Dr. Arndt on Monday and figure out where they want to go with further metabolic and genetic testing. Dominic will also have another MRI in 1-2 weeks to see if things have gotten better or worse. We are scheduled to see Dr. Chugani in Detroit next week (3/7) for a consult as well.

Little Sweetie

I thought when Dominic was diagnosed with Infantile Spasms, that would be the biggest hurdle we'd have to face. When his spasms were finally controlled, I felt that finally we could move on and focus on the future. I thought he had a great chance of developing, albeit a bit delayed. Then came the long, scary seizure, then kidney stones and then the hematoma. Now this. I don't even know what to make of this or how to process this. There is absolutely no way to predict what his future holds. I'll be okay one minute and the next minute I start thinking about all this and I just fall apart. No one can give me direct answers and no one can reassure me that everything will be okay. I'm living in this constant state of uncertainty, anguish and fear. I know that I have to trust God and believe that he has His hands in all of this, but I can't help from throwing my hands up, yet again, and asking "why"? Why Dominic? Why does this little 5 month old baby have to endure all of these struggles. What is going to happen to him? Will he ever be able to function normally? Is he going to spend his whole life sick in and out of hospitals? How long will he live if his body can't make the energy for brain and organ function? It just doesn't seem fair. I would give anything to trade places with him, to be able to take all the needle pokes and tests for him. In a heartbeat I would unload this burden he is carrying and gladly take it on myself.

I am once again asking God for a miracle. Maybe more than one miracle in a lifetime is too much to ask for, but I'm going to ask anyway. We continue to ask our friends and family for prayers for Dominic's health, but also for our family. This doesn't just affect Dominic, it affects all of us. It's hard for Mike and I to focus on our other responsibilities with everything going on and it's hard for us to give the attention to Mitchell that he craves. I feel like I'm cheating him out of what he deserves. He shouldn't have to spend his days in doctor's offices and hospitals. But we're doing the best we can and I guess at this point that's all we can do. That and pray. Pray without ceasing.