I’m a summer slacker; I admit I have not been the most diligent blogger as of late. I have been spending most of my time with my kiddos, trying to keep up with daily living, and traveling from East to West and North to South. We just returned from Atlanta where we had our first follow up appointment with Dr. Shoffner’s physicians assistant Maureen Starns. We took the entire family in hopes of making it even more of an adventure. All in all it was a good trip, we spent some much needed time as a family (30 hours in the car brings new meaning to the phrase “quality time”), visited the spectacular Georgia aquarium and the World of Coke, ate our fair share of takeout and ice cream, and had a productive albeit overwhelming appointment about Lucy’s disease and what that means for her/our future. What we hoped to get out of our appointment was more clarity in regards to Lucy’s diagnosis, what that means for her in the future, and what we need to be doing for her now. Genetically we do not know where a mutation exists, and because we do not have this information we do not have a “definite” diagnosis. Instead, Lucy is said to be “highly probable” of having mitochondrial disease, the closest definition of a diagnosis for having a mitochondrial disease when you do not know your genetic mutation. The criteria by which they diagnosis mitochondrial diseases are complicated, not unlike the disease itself. All of this “highly probable” wording always had me wondering how likely it could be that Lucy has some other disease that could be causing her issues. They made it very clear to us that Lucy’s diagnosis is SOLID, biochemically and as well as clinically, there is very little doubt that Lucy has anything but mitochondrial disease and that it is most likely a primary defect. Hearing this has helped us to process her diagnosis even further! We were told that we can stop looking for what else it could be, instead we will focus on finding our genetic mutation. In the next one to two years we were told there will be a new test which looks at 1000 nuclear DNA mutations, and they feel it is very possible that we will find our genetic mutation in this next generation of testing. Knowing where a mutation exists will allow us to test our other children to see if they are affected with this disease. We strongly suspect that Sophie is affected with a milder form of this disease, and only time will tell us what impact it will have on her body. This just…sucks! We had labs drawn on Sophie to see if she has any of the indicators of mitochondrial disease in her blood work.
We also had labs drawn on Jack, for the last few months he has been “off”. He has lost some weight, his energy levels are low, and he his appetite has been poor. Honestly, we do not feel that he is affected with mito, but we would be remiss if we did not at least acknowledge that it could be a possibility. Jack had some earlier testing done in June which indicated that his body was fighting off something, but we don’t know what exactly. Jack had mononucleosis in kindergarten and his current symptoms are very similar. We are keeping a close eye on him and are hoping and praying that he bounces back to the Jack we know and love so much!
Are we worried about Megan having mitochondrial disease? No, not really, she is truly the picture of good health! I would love to frame her growth chart as it is about as perfect as they come, she falls smack dab in the middle of the charts and follows the curve beautifully! If we were suspicious that Lucy’s disease was as a result of a mitochondrial DNA mutation (mtDNA) then, yes, we would be more worried for Megan. MtDNA mutations are only passed from the mother to her children. Even though Megan is not symptomatic for having mitochondrial disease, she could carry the gene for mitochondrial disease and pass it on to her future children if Lucy’s disease were a result of a mtDNA mutation. Lucy has had extensive testing done which examined her muscle and blood for any know mtDNA mutations, so far none have been detected. I know I have mentioned this before, but the type of defects that were discovered in Lucy’s biopsy are more commonly found to be as a result of a nuclear DNA mutation. So this is were we are focusing our genetic search.
In addition to having mitochondrial disease, Lucy also has a cerebral foliate deficiency(CFD) as deteced by low levels of 5-methyltetrahydrofolate in her cerebrospinal fluid, this is a neurotransmitter disease. According to Dr Shoffner, ten percent of mitochondrial patients suffer with a CFD. We started Lucy on Leucovorin, folinic acid, about a year ago per the urgent recommendation of Dr Shoffner. CFD can be treated and its symptoms minimized with the the use of folinic acid. Unfortunately, this disease is lifelong as well progressive. There are numerous symptoms, “the onset of symptoms caused by the deficiency of folates in the brain is at around 4 to 6 months of age. This is followed by delayed development, with deceleration of head growth, hypotonia, and ataxia, followed in one-third of children by dyskinesias (choreo-athetosis, hemiballismus), spasticity, speech difficulties, and epilepsy(Developmental Medicine and Child Neurology March 2009).” We also learned that Lucy’s dramatic change for the worse in her sensory processing could be as a result of her CFD progressing. Unfortunately, the only way of retesting her levels of 5-methyltetrahydrofolate is to repeat a spinal tap. Obviously, this is not something that we wish to subject Lucy to routinely, instead we are incrementally increasing the dosing on her Leucovorin to see if we can alleviate some of her symptoms.
Health wise, Lucy is holding steady! Drew and I really believe that knowing what we are dealing with has helped us to stay on top of Lucy’s symptoms and be proactive in treating her. Looking back on this last year, we can’t deny that feeding Lucy 22hr/day has helped to keep her body stable and has avoided metabolic crises. Behavior issues are our newest concern, and because we know that the brain is a major organ of the body that requires a tremendous amount of energy, we are hoping and praying that by increasing her med dosing on her Leucovorin that we will see a decrease in her behavior issues. We are also going to be more proactive and seek the knowledge and expertise of a behavior therapist.
We continue to have therapy three times a week in our home, and are going to be starting aqua therapy at DuPont in the next few weeks with a wonderful PT who has worked with Lucy off and on throughout her life. We are still working with the augmentative communication specialist at DuPont and are learning A LOT about these types of devices and how they may help assist Lucy with her communication needs. Lucy is strong-willed and stubborn, qualities that no doubt have gotten her to where she is today, but also make teaching her anything a bit of a challenge:).
We started nursing care at the end of June and what a blessing it has been for us! Our nurse just happens to be the nurse at our kids elementary school, we love her! She has come into our home and taken on many, if not more, responsibilities than I ever thought possible. She will be with us full time until the end of August when she will have to go back to being the nurse at our kids school. We will soon meet our next full time nurse who will take over for Helen in September. Helen has offered to fill in on the weekends if need be, and on the occasional Friday night so that Drew and I may have some much needed alone time with one another.
My time is up as Lucy is screaming for me and the natives are getting restless in the basement. I will do my best to update more regularly.