Has our life changed much since getting Lucy’s diagnosis, technically not a whole lot, emotionally a lot! Technically we still need to see all of the specialists(eleven at last count) that Lucy has seen before plus some. Our neurologist has been communicating with Dr S. in Atlanta about Lucy’s diagnosis and what the dosing recommendations are for the Mito cocktail. Dr. S is not a clinician, he is a diagnostician and researcher. He consults with other doctors about the patients he has diagnosed but he does not see these patients for the care and maintenance of their disease. We are very glad that he devotes most of his time to researching mitochondrial disease, he is a brilliant man who we believe will help find a cure for this disease someday. We are in need of finding a Mito specialist for Lucy, and that is what we are struggling with currently. Our metabolic doctor and geneticist at CHOP are knowledgeable with mitochondrial disease, but are not mitochondrial disease experts. Mitochondrial medicine is a very specific specialty, as you can imagine, and there are only a few doctors in the country that are considered Mito experts. Hopefully, we will be able to get all of Lucy’s Mito needs met at CHOP or at DuPont, but for right now we are feeling like we need to see a mitochondrial disease doctor. During the last conversation that I had with our geneticist at CHOP, he said that CHOP was in the final stages of recruiting two of the country’s leading Mito specialists, we haven’t heard anything more about this. We are scheduled to see Lucy’s metabolic doctor on October 13th, hopefully at that time we will know more.
Since getting Lucy’s diagnosis we have made efforts to ensure that Lucy’s medical needs will be covered no matter what happens to our primary insurance. Lucy diagnosis is lifelong and she will most likely require more medical care in the future than she currently receives. National health care is a very scary concept to our family as we rely on our coverage now more than ever. We sincerely hope that more thought goes into the government’s plan for nationalized health insurance.
Lucy has started on some of the supplements in the Mito cocktail. The biggest side effect of the medicines so far are found in her diapers, if you know what I mean. We were able to cut back on the Miralax for a while, but now she is back to her regular irregularity. We are being careful to introduce each medicine individually so that we give her body a chance to adjust to each new dose or medicine. One of our challenges is remembering to give Lucy her medicines three times a day. I need to remember to set a timer.
Drew and I are very aware of Lucy’s obvious issues, unfortunately we can not see what is going on inside Lucy’s body. Because Mito can affect all major organ systems we need to look at getting a baseline on many of her major organs. As a result, we are scheduled to see cardiology sometime in October. We will also need to do annual hearing and vision testing as these are areas that can be affected by this disease as well. Lucy’s neurologist is following her neuro muscluar issues closely as well as her suspected seizure activity. We are going to do a 24 hour EEG sometime in the very near future, I am not looking forward to this one at all. We follow with GI and nutrition on an almost monthly basis. Currently we are getting ready to switch Lucy’s PEG tube to a gastrojejunal tube (GJ tube). We have some options that we need to consider when it comes to this switch so we are still in the decision making process with this. Her tube site looks really good right now, we want to make this switch as soon as possible before we have another infection on our hands, or should I say Lucy’s stomach.
Emotionally we have our ups and downs! Getting a diagnosis DOES help, even thought it is a diagnosis we never wanted for our baby girl. We can not look back, but must look forward. There is nothing that we could have done differently to make the outcome any different, we have no regrets. What is the prognosis for this disease? We do not know, it is hard for even doctors to speculate. There are many people who live fairly normal lives with mitochondrial disease and there are others whose lives are severely affected as a result of having mitochondrial disease. We feel blessed to have been chosen to be Lucy’s family! Our goal is the same for Lucy as it is for Jack, Megan, and Sophie; we will provide them with as much love and support as we possibly can, so that they in turn can have the best possible life.