I am going to be very specific for the purpose of this video, Lucy has a Complex III OXPHOS defect. Hopefully this video will help to explain what this means.
I am going to be very specific for the purpose of this video, Lucy has a Complex III OXPHOS defect. Hopefully this video will help to explain what this means.
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.
This week has recently been proclaimed Mito Awareness week. I thought I would dedicate this week to our Lucy Grace and to all who are affected by this disease. Before Lucy was born I had never heard of Mitochondrial disease. Now I feel like I can’t learn fast enough about this disease that affects our little Lucy and so many others. I will try throughout the week to share information about mitochondrial disease and what it means to our family. I thought I would share information taken directly from the United Mitochondrial Disease Foundation’s web site www.undf.org. I could not even begin to explain the information as clearly and accurately as they have. We very much appreciate you taking the time to learn about Mitochondrial disease, a cause that is very near and dear to our hearts.
The following information was taken directly from the UMDF web site at www.umdf.org
WHAT ARE MITOCHONDRIA?
Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
WHAT IS MITOCHONDRIAL DISEASE?
Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.
Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.
Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.
How does Mitochondrial Disease affect the body?
The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease. The affected individual may have strokes, seizures, gastro-intestinal problems, (reflux, sever vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.
WHAT CAUSES MITOCHONDRIAL DISEASE?
For most patients, there is a genetic mutation in either the mitochondrial DNA or the nuclear DNA. The mutation may have been inherited from the mother or from both parents, or it may represent a spontaneous mutation. For most patients with mitochondrial disease, the genetic mutation has not yet been identified.
There are environmental factors, even certain medicines that may interfere with the mitochondria and result in symptoms.
HOW COMMON ARE MITOCHONDRIAL DISEASES?
Every 30 minutes a child is born who will develop a mitochondrial disease by age 10.
At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.
Mitochondrial disease is a relatively newly diagnosed disease – first recognized in an adult in the 1960s and in the 1980s for pediatric onset cases. It is greatly under diagnosed and the true prevalence is difficult to determine.
Research has consistently shown that mitochondrial dysfunction is at the core of many very common illnesses and chronic conditions of adulthood. These include: Alzheimer’s Dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. Furthermore, autoimmune disease such as multiple sclerosis, lupus and rheumatoid arthritis appear to have a mitochondria basis to illness.
When is someone with Mitochondrial Disease at the highest risk?
The child or adult is at highest risk for neurological and organ damage during and for the two weeks following an illness. Therefore even a simple flu or cold virus can have devastating effects on the patient, even death. Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.
WHY IS RESEARCH SO CRITICAL?
There are no known treatments or cures for mitochondrial disease.
Mitochondria may play a far greater role in human health than scientists and doctors have realized. Any health concern that is an energy problem could be related to the mitochondria.
Further research into the mitochondrion and primary mitochondrial diseases (those due to genetic defect) would benefit millions of people. It would offer hope to the thousands suffering from this debilitating and often fatal disease and provide a broad range of new therapeutic approaches for attempting to treat these other very common and incapacitating illnesses and conditions.
MITOCHONDRIAL DEFECTS ARE A CENTRAL FACTOR IN HUMAN HEALTH AND DISEASE.
Mitochondrial dysfunction is at the core of a surprising range of very common illnesses and conditions, and represents a promising new avenue for their treatment. As the mitochondria are responsible for producing energy, any illness that has an energy problem could be related to the mitochondria. Diseases in which mitochondrial dysfunction have been implicated include:
• Alzheimer’s Dementia, Parkinson’s disease, Huntington disease, Amyotrophic Lateral Sclerosis (ALS), mental retardation, deafness and blindness, diabetes, obesity, cardiovascular disease and stroke. Over 50 million people in the US suffer from these chronic degenerative disorders. While it cannot yet be said that mitochondrial defects cause these problems, it is clear that mitochondria are involved because their function is measurably disturbed.
• Even autoimmune diseases such as multiple sclerosis, Sjogrens syndrome, lupus and rheumatoid arthritis appear to have a mitochondrial basis to illness.
• Mitochondrial dysfunction has been associated with a wide range of solid tumors, proposed to be central to the aging process, and found to be a common factor in the toxicity of a variety of physical and chemical agents.
SUCCESS TO DATE
The National Institutes of Health (NIH) recently established a cross-cutting research initiative on the mitochondria that cuts across all the NIH institutes (an ROI Project.) In one of his last official actions, former NIH Director Dr. Zerhouni, recently testified before the House Energy & Commerce Committee about the importance of cross-cutting research initiatives as being the key to future advances in science and medicine.
Congress has also expressed its intent to further explore the far-reaching role that mitochondria play in a wide range of diseases. Report language included within the 2008 Labor, HHS Appropriations legislation “…encourages the NIH to intensify its research efforts into primary mitochondrial disease, which is also implicated in numerous other diseases such as Parkinson’s, Alzheimer’s, heart disease, diabetes and cancer. The Committee understands that intensified research into primary mitochondrial disease will help to further understand these other conditions.”
While some steps are being taken, there is a lot more opportunity and promise that could be realized with greater financial resources. Interestingly, research in Europe and Asia is proceeding in a much more intensive manner. Recently for example, China established a mitochondrial university.
It is clear that research into mitochondrial disease offers hope to the millions who are afflicted with these other common conditions and diseases.
It is only Wednesday, wishing it was Friday. It has been a very LOOOOOOONG week so far. Every night has been filled with commitments and activities. With three in school this year, we have attended three back to school nights in the last few days, and filled out what seems like three hundred pages of emergency contact forms, reading logs, homework assignments, and PTA forms. In the last week I was asked from one of Lucy’s social workers if we have considered any plans for Lucy’s future education, to which my eyes bugged out and my jaw dropped. The answer would be NO, not really, I mean sure we are immersed with school everything right now and I have thought of how much more stressful it will be when and if Lucy goes to school. But NO, I am just trying to take things one day at a time with her. I don’t mean to imply that Lucy will not be going to school one day, we hope very much that she will, but I don’t remember having any plans yet for any of our kids future education when they were Lucy’s age.
If I sound overwhelmed, I am. We have our hands full right now adjusting to all of the new changes in our routine. I know things will get easier with time, but right now we are feeling overwhelmed. Now that we have had some time to process the events from Monday, again we are reminded how very fragile Lucy really is. As if we needed a reminder, never take things for granted! I think that we are going through the process of adjusting to Lucy’s diagnosis still. We wonder if and when things will ever get easier?
Tomorrow Lucy has her eighteen month check-up as well as an appointment with her neurologist. We have several issues that we want to discuss with her doctors and are hoping to get some answers and direction with things.
The kids also start our marathon of music classes again tomorrow, they are all looking forward to it. Lucy started her music class on Tuesday, and lets just say it did not go as well as I had hoped. In her defense, we were recovering from a rough day the day before. Regardless, I fear that her issues would have been the same. Lucy has sensory processing issues that are challenging to say the least. Add to that all of her other issues, and well it’s going to take some time to get her used to the class.
Life goes on…no matter what we will get through all of this! After all, it is our life! Thanks for following us on this journey.
P.S .I will post new pics soon, I promise.
We are home and looking forward to going to bed. Lucy is home and sleeping like a baby in her crib. Sophie is also sleeping as she had an exciting day riding in an ambulance and being spoiled by the ER staff at DuPont. Jack and Megan had no idea what happened until just a few minutes ago when Drew and I told them. They are so relieved that Lucy is doing better and that we did not have to be admitted!
Experience has helped us to learn what is normal and what is not normal when it come to Lucy. Because of this I feel that I was able to react quickly to what Lucy’s body was experiencing. We believe that the combination of her body being tired and the lack of nutrients put her body into metabolic crisis. When this happens she becomes extremely floppy or hypotonic, she has starring episodes in which she does not respond, and she becomes dehydrated very quickly. It is so freighting to see her get like this! Thankfully she perked up after several hours on D10 solution and full feeds! It was difficult to get labs on her today because she was so dehydrated, having labs drawn is very traumatic for her. I wish there was another way! All of her abnormal labs where typical abnormal labs for Lucy, nothing we are not already aware of. Our experience with Lucy’s issues, knowing that she has mitochondrial disease, our very dedicated pediatrician, Lucy’s ER protocol letter, and the staff at DuPont helped to get Lucy back to baseline today, for that we are so grateful!
I also want to say a huge thank you to all of our friends and neighbors who have come together to help our family in our times of need. It means so much to us to know that you are there for us ready and willing to support us in so many ways. I posted this warning before, knowing us can be hazardous to your cardiac health just ask our close friends and family.
Again I am way behind in updating you on what has been going on in our lives. I just can’t seem to find the time to complete a thought. I am going to be lazy tonight and just write in list format some to the things/issues/stuff/happenings/goings on in the Marlett house recently:
Sophie had her first day of preschool yesterday! She has been anxiously awaiting this day, well I guess…all her life. She was so excited to ride in Daddy’s car to preschool. Drew used to drive Jack and Megan to preschool in morning and so the tradition continues(It works for me;). Sophie ran out of the garage door yelling back to me, “Now Mom don’t be sad, you still have Lucy! See ya!”
Megan and Jack both have new glasses that have transitions lens, they love them. They think they are so “cool”, I think they are slightly “dorky”. They told me “all the kids at school like them, and they know what is cool Mom”. My response to them, “whatever?” Oh my someone please stop them, they are growing up way too fast!
Jack came home from school on Wednesday with a VERY loose tooth, within seconds of him walking in the door it fell out. Sophie saw all the blood in Jack’s mouth when he walked in the door and then saw the tooth fall out and said very emphatically that she was NOT EVER going to loose a tooth!
Here’s a BIG one, Lucy is taking independent steps! !!!! Yes you read correctly, I started writing a post about this but haven’t finished it so I am going to tell you now just in case I don’t get to finishing that post anytime in the near future. Words can not express how happy we are for our little one. Mito is a disease of energy metabolism, some days are better than others, that’s just the nature of this disease. All of her attempts at walking have really wore her out this week, but at the same time she does not want to sleep because she wants to practice her new skill. Today all her walking finally caught up with her, she slept most of the day.
After I posted about not having any doctor’s appointments this week or last I jinxed myself. Last Thursday afternoon I ended up taking all the kids to our peds. office for round one of the flu vaccine thanks in part to their office calling me right away when the vaccines came in. Lucy’s g-tube site was starting to look icky again on Thursday, how convenient we were already going to the peds office. Fearing another infection we did a culture which indeed came back growing staff and some other stuff again. After the long holiday weekend her site progressively started to look worse. Why do kids always seem to get sick over a weekend, or holiday, or a holiday weekend? It looked oozy and yucky and was obviously painful. On Tuesday when I went to lay her down for her nap her site started bleeding a lot! With some quick thinking I called my neighbor who happens to be a nurse and asked if she would come and take a look. In all honesty, I was probably a little more panicky sounding than that, it was a lot of blood. She came with all three of her kids right away (amazing) and helped calm my nerves. By the time she arrived the bleeding had subsided, she took a look at her site and agreed that it did not look like normal granulation tissue, it looked unusual . After talking with our ped. we decided that I should take Lucy to CHOP to see the GI stoma nurse practitioner. On Wednesday morning I took Lucy back to CHOP where the nurse practitioner looked at her site and thought it looked pretty unusual as well, sometimes I just wish someone would say, “oh, that’s so normal” when they look at Lucy. She talked with me for over an hour about g-tube sites and granulation tissue. She was very compassionate and knowledgeable and I greatly appreciated all of her time and information, Lucy on the other hand did not. She took silver nitrate to her site again and prescribed an antibiotic as well as trimcinolone cream to control the growth of the granulation tissue once the infection is gone. She agreed that the sooner we can switch Lucy’s tube the better. We are scheduled to see our GI in the next week or so, at that time we will discuss all of our options.
My sister came to visit over the weekend, we had fun staying up late and talking about “stuff”. We did a lot of nothing and had a relaxing time doing it. She watched the kids for us on Monday afternoon while Lucy took a nap. Exactly twelve minutes after we left our driveway she called us saying Lucy was awake and that there was no way she was going into her room to get her. Who knew someone so small could be so intimidating? I told her to leave her in her crib as long as she was happy and to call me when she started getting upset. Drew and I were just around the corner at our local Starbucks and could be home in a few minutes. So there we sat trying to talk about everything while gulping our Starbucks and looking at the clock, not exactly what you would call a relaxing date but it was a date nonetheless.
We are looking forward to yet another weekend. My grandparents are visiting us on their way back to Florida. We are going to slow down and take the weekend to enjoy having them in our home, I just hope the rain stops tomorrow so that we can play outside.
I have fragments of posts that I have started over the past few weeks but have not had time to complete. Hopefully you can look forward to reading a few of those in the the upcoming week or weeks. I have so much I want to say but not enough time to write it down.
