(Names, ages, type of MITO if known, and testing performed for diagnosis purposes).
My name is Cathy LaFond-Evans. I am 53 years old but my body and brain make me feel like I am 80 years old! I am suspected of having mitochondrial disease and I have three children, 2 with confirmed mitochondrial disease and one suspected of having Mitochondrial disease;
My first child, Randi, passed away in 2010, shortly after her 28th birthday.
Her form of mitochondrial disease was only, finally, confirmed about one year before she passed away, despite suffering from multiple, unexplainable, problems since birth and our relentless daily, search for answers.
Molecular Micro-Array Analysis, of her Nuclear DNA, revealed that a large previously documented duplication on chromosome 10, formats for complex one of the mitochondria. At age six, Randi had been diagnosed with a one-of-a kind chromosomal anomaly affecting chromosomes 9 and 10.
When researchers found the nuclear DNA flaw, affecting her mitochondria, they weren’t looking for it specifically. Instead, they were trying to determine if the known part of the chromosomal defect was to blame for Randi’s severe immune deficiencies and dysfunction because a specific immune system regulator was known to be located in the affected region of chromosome 10.
My second child, Brooke, is 31 years of age and she also has confirmed Mitochondrial disease. Brooke shares the one-of -a kind chromosomal anomaly, affecting chromosomes 9 and 10, with her older sister, Randi.
However, Brooke’s mitochondrial disease was not confirmed in the same manner Randi’s was. A few years earlier, in 2007, Brooke, was the one in our family chosen by doctors to undergo a muscle biopsy. Although insurance would not allow us to have a fresh muscle biopsy, which was recommended and afforded us the best chance at a diagnosis, we were fortunate that a frozen muscle biopsy yielded answers. Brooke was found to have multiple anomalies of complexes one and four in her mitochondria.
Brooke has never had the molecular micro-array analysis testing her sister had performed and Randi never had a muscle biopsy tested for mitochondrial disease. We don’t know; if Randi had, had her muscle biopsy tested if she would have also had anomalies of complex four in addition to complex one. Randi had undergone a muscle biopsy when she was 10 years old, in the mid 1990’s when only a handful of doctors in this country were beginning to recognize, diagnosis and treat patients with mitochondrial disease so her specimen was never tested for MITO.
My third child is suspected of having Mitochondrial disease. However, out of respect for this child’s privacy, I will keep details of his life limited.
All four of us, in the early phases of work-ups for Mitochondrial disease, were administered ischemic forearm stress tests at various hospitals to try and determine if there was probable cause for further investigation into a diagnosis of MITO.
Brooke, Randi and I also underwent MR Spectroscopy testing. Brooke was the only one of the three of us to show multiple anomalies in her brain, which were highly suspect for Mitochondrial disease.
Otherwise, none of us ever had any blood or urine testing that revealed any kind of abnormality pointing towards mitochondrial disease. In Randi’s last few years of life, she did develop an elevated blood lactate level on / off.
PART 2: LaFond-Evans - (When symptoms were first noted vs. diagnosis)
When I was 35 years old, I first began noticing strange symptoms consisting of; sudden, severe and profound, weakness episodes, which came on out of the blue. Around the same time I also began experiencing blurred vision and muscle fatigue. I was at the time, and basically always had been, an otherwise healthy, active and athletic person.
A few months later my family and I were forced to receive the rabies vaccine.
I ended up becoming very ill with multiple unexplainable problems and was bed-ridden for nearly a year before fighting back to a semi-functional state.
Eventually, I was able to returned to work for 5 years before there was a gradual return and increase of the symptoms, which were initially believed to be related to a vaccine reaction. I had no choice but to decrease my work from 5 days down to 2 days a week. Over the course of next two years, I continued to decline both physically and mentally forcing me to go on disability.
As previously noted, Randi showed obvious signs of mitochondrial disease from birth. However, she was born in 1982 far before doctors ever knew anything about mitochondrial disease. She had a complicated delivery, necessitating a C-section and was not breathing at birth. While she weighed almost 9 lbs she never opened her eyelids. Initially I was told not to worry, doctors assured me there was nothing wrong with her eyes or eyelids. Randi not only had severe bilateral ptosis ( the inability to open her eyelids fully due to weak muscles and / or nerve damage) but was later found to be legally blind because of congenital optic nerve defects.
That was just the tip of the iceberg!
As time went on it was clear Randi suffered from multiple medical problems, which none of the dozens of specialists she saw could explain.
Brooke also exhibited multiple problems from birth but it was her extreme, chronic, irritability that no one will ever forget. Brooke stopped breathing a day after she was born but doctors attributed this to choking on her own mucus.
Brooke went on to be admitted to our local hospital several times in her first year of life for the chronic, extreme irritability but was only found to have gastro esophageal reflux. I was told Brooke merely had a bad temper, though my family and I knew better. On at least one occasion, hospital records listed the reason for admission as being parental respite. In their defense, how could doctors diagnose something they didn’t know about.
Brooke followed in her sisters foot steps with regard to developing a multitude of medical problems, the majority of which were identical to her sister Randi’s. It’s a long list that has never stopped growing.
We will share with you a symptom list that corresponds with everyone’s stories later in this presentation.
My third child was initially dubbed my “normal child” though he too exhibited some subtle medical problems at birth. As time went on my son’s fewer, milder symptoms; such as being very small for his age (below the normal growth chart plotting) and multiple allergies, led us to believe he was otherwise healthy.
He was also not found to have the chromosomal anomaly his sisters shared, further reinforcing he must be healthy and normal because at this point in time the girls chromosomal anomaly was thought to be the root of all of their problems.
Then, between 7-9 years of age my son developed multiple GI problems, chronic migraines and urinary problems, similar to his sisters.
While trying to find answers and get help for my son, I was accused of Munchausen’s by proxy by a physician at BCH.
At this point, in 1994, Randi’s condition had deteriorated significantly. She could no longer swallow her own saliva and needed a wheelchair. Regardless, doctors at Boston Children’s Hospital only reiterated; “We’ve done every test known to man-kind and there is nothing more we can do, find a good psychologist and learn to live with it.” I refused to watch my children die one by one, which I feared would happen if I did nothing, so we decided to go to Johns Hopkins. The first thing doctors did was to perform repeat espohagoscopies on all three of my children. None of them could eat or drink without extreme difficulties. Brooke was found to have severe eosinophillic esophagitis. This was thought to be the root of their well documented loss of peristalsis throughout their GI tract. They were all prescribed an amino acid based formula. And, to everyone’s surprise, the formula not only relieved all of their GI problems but had a dramatic impact on all three of the children’s multiple other, non-GI related problems.
It truly was nothing short of a miracle! Based upon their overwhelming positive responses, we were told by the children’s multiple specialists that there had to be more to their problems, that they all likely had some unexplained metabolic problem. However, it didn’t matter to us if doctors couldn’t explain it, all that mattered was that they were free from the majority of their pain and suffering for the first time in their lives.
Obtaining their special amino acid based formula was just, one, of many major battles we’ve had to under take throughout my children‘s life, related to MITO.
The insurance company only wanted to pay for the formula if all 3 children were admitted to a hospital, indefinitely, to receive their miraculous, life-sustaining formula. We had to go through a law-suit, and then that ordeal was followed-up with fighting for and passing a law in NY State in 1996, which covers enteral formulas and expanded the coverage of low protein foods when prescribed by a physician.
Unfortunately, in 2001, my children’s senior year, their conditions once again began deteriorating seriously for no obvious reason, leading all of us, to the diagnosis of suspected Mitochondrial disease. Even then, the diagnosis of MITO happened by chance and came about because Brooke was being seen by a new specialist due to her ever increasing neurological symptoms and over all sudden, unexplained decline in health.
PART3: LaFond-Evans - (Symptoms List and how affected by such)
Having the experience of my whole family affected by MITO I can affirm that EVERYONE, suffering from mitochondrial disease is affected differently. EVERYONE gets their own unique “MITO package”, even when they are members of the same family who share the same form or forms of Mito.
As you’re learning today, by all of us sharing with you our MITO stories, there are also various forms of Mitochondrial disease. Additionally, you should keep in mind that today’s’ presentations are only a few, of the many diverse ways MITO can affect an individual.
Beyond these variations, there are also different stages of MITO because MITO is progressive. Add in the fluctuating and unpredictable nature of MITO itself and LIFE becomes a never ending roller coaster ride!
Another factor effecting the progression of the disease process and complications that can arise, depends on what constellation of medical conditions are part of your uniquely individualized “MITO package“.
For example: Both Randi and Brooke were born with significant immune deficiencies and dysfunction, adversely impacting their overall health and the progression of their MITO. Their Hypogammaglobulinemia never responded to the typical IGG replacement therapy. Instead this therapy, in of itself ,caused them further complications, which could never be explained. Low levels of IGM, of late onset, and complete absence of IGA in Brooke along with other immune dysfunction such as chronically low WBC counts, rarely mounting fevers with serious infections, no lymph node enlargement with infections, absent frontal sinus, adenoids, and more, are all attributed to just one, of their multiple problems stemming from MITO.
Because of this both girls have required multiple, daily, prophylactic antibiotics from birth.
When Randi was forced onto a j-tube, after losing over 30 lbs in a few months time, due to total gastroparesis, her body’s immune system could not support the implanted device. Immunologists had always warned us against having any type of implanted device but there were no other options available, unfortunately.
For the next three years, she required multiple daily IV antibiotics to try and keep the j-tube site infection at bay. We were never able to eradicate the infections. We all knew we were pushing the envelope and that time was running out. In the end Randi’s immune system completely failed and she eventually died from polysepticemia. In addition her kidneys also failed due to a one-of-a kind metabolic manifestation, which caused severe hypercalciuria, severe hypokalemia and protein loss. Once again there were no answers or treatments that worked. The other big struggles for Randi were the never ending, severe and diffuse pains, which plagued her basically her entire life. There were few pain medications that helped, even at high doses. Many her body simply couldn’t tolerate or they just didn’t work. They only partially alleviated her horrific, suffering. She also had ever increasing, dysautonomia, causing her extreme positional intolerances, low blood pressure, dizziness, headaches, diarrhea, heart palpitations, tachycardia, mottling and syncopal /near syncopal episodes.
Her diffuse neuropathies had progressed to the point, where in the end, she had no feeling on the whole right side of her body.
Brooke has shared roughly 95% of the same symptoms her sister Randi suffered from, which you can see from their symptoms lists.
Brooke’s biggest problems are related to her near absent peristalisis throughout her entire GI tract, chronic hypercalciuria and kidney stones, immune deficiencies, her multiple daily episodes of confusion, an intense sick feeling that emanates from her head and the never ending diffuse, difficult to mange pains.
Brooke made the decision to forego any implanted devices, which would surely only lead to further suffering and prolong the inevitable. Brooke manages what little energy she has left by adhering to a very rigid schedule, one she’s developed overtime that helps her maintain modest stability. Something as mundane as waking up early and /or missing naps has a profound detrimental affect on Brooke.
She is very limited, awakening daily around noon. Generally she’s unable to function to any meaningful level until after her nap, which she takes daily from 3:00pm. until 5 , 6 or 7pm. Many days she can’t get fluids or nutrition in until this time. Most days it’s a challenge to consume fluids and nutrition. And this is a representation of a GOOD day.
With both girls sharing so many similarities, I was quite sure there wouldn’t be anything new popping up with Brooke that we hadn’t already faced with Randi. Then…. MITO’s unpredictable nature through me a curve ball. Brooke developed vascular dysfunction of her lower leg and foot causing pain, swelling and pitting edema.
Unfortunately, that’s how it goes with MITO! It’s always, one more new major medical condition after another. New problems just arise with little to no rhyme or reason and you’re left to deal with them the best way you can because many of these problems are manifestations unique to mitochondrial diseases. There’s little that can be done other than treat the related pain. Regardless, every time new symptoms appear you must go through a full workup to rule everything else out because on rare occasions the root of some problems can be black and white, necessitating traditional treatments, surgeries and cures.
Even for the well-seasoned MITO patient, it is very difficult to always know when it’s “more than MITO!” Even with the odds against finding a cause for problems, 99% of the time, you can never become complacent and attribute everything to MITO. Randi ended up with inoperable, stage 4 endometriosis on top of everything else because everyone automatically assumed all of her symptoms were related to her mitochondrial disease.
I consider myself fortunate because I once knew normalcy, before MITO, unlike my children who have all lived with this disease since birth.
I can tell you that there is a night and day difference and that anyone who doesn’t have mitochondrial disease, can not experience the constant or severe, degree of lack of energy and fatigue, only those with a genetic mitochondria flaw can.
My #1 symptom is a never ending lack of energy. I now live with a very limited amount of energy and have no reserve to pull any additional energy from when I feel I need it.
My significant lack of energy alone has numerous impacts on my daily ability to function and fluctuates with little rhyme or reason.
One example: every time I go to drive, I never know to what degree my brain will impact my ability to function or what combination of symptoms related to my deficit in energy I will encounter. I can’t always process fast enough for the split minute decisions that are a normal part of driving. This leads to confusion and memory issues. Other times my spatial concept is off, causing me trouble maneuvering. A majority of the time, I develop significant blurred vision. Then there are the multiple near syncopal episodes I must contend with.
When I repeatedly push myself beyond what I have come to know as my “safe limits”, whether it be by choice or necessity; my body and brain start shutting down. Sometimes I feel like I am in a catatonic state, just going through the motions. Even though I may be awake and upright I am unable to function to any meaningful degree. At my worst I experience profound episodes, rendering me unable to move or even talk. When this occurs I become very ill, very quickly, and feel as if I must be coming down with the flu because I am usually extremely nauseous and have chills. At that point I either fall asleep or pass out. Whenever I over do, which consists of doing very little, I need to remain in bed for days afterwards before being able to function physically and mentally to any meaningful degree. Basic measures I use whenever I can to try and remain as stable as possible include doing things at my own pace, not overdoing and being in bed resting by 4:00pm.
Cold weather is another major problem for me, part of my dysautonomic dysfunction. Anything below 60 degrees, forget it,! 60 degrees or minus 30 degrees it’s all the same to my body! The cold causes my body to shut down even further. I expend precious energy trying to get warm and stay warm. At its worst I can get into bed with a heavy winter parka, winter hat, several layers of clothing, along with 2 heavy blankets and it will take several hours for my body to regulate its temperature. Taking a warm shower helps but when you are in this state, and lacking energy to this degree, that’s the last thing you want to do. I have a hard enough time getting my daily shower. I’ve even gotten to the point where I don’t always take daily showers due to my fatigue.
Luckily for all of you, I got one today!
An unexplained neuralgia, affecting my eyes and head is another of my major symptoms. In order to avoid and alleviate the majority of my gastrointestinal problems, I’ve adopted eating habits such as small frequent meals early in the day, taking in little to nothing after 3:00pm in the afternoon.
As you can see in my family we’ve found that making adaptations and modifications to our daily life’s, which are tailored for each affected individual, is one of the most important things we can do in an effort to try and remain as stable as possible. __________________________________________________________________
With regard to MITO cocktail medications: this is what has and hasn’t worked in my children:
My daughters, never recognized any improvement on Cyto-Q although all 3 children have documented low serum levels of Co Q 10.
On the other hand, CYTO -Q is the only medication that has had any impact on my son. It doesn’t cure all of his symptoms but does help him feel a little better. However, this is not covered by insurance so he only has access to it on rare occasions.
Randi felt that levocarnitine, administered via intravenous, did help with some of her cramping and spasms but the oral dose of carnitine never made any appreciable difference in any of my children. So you can see in some individuals treatment options for MITO are extremely limited!
PART4: LaFond-Evans - (Impact of MITO on a family)
So…. you may be asking; if there are limited treatments and there is no cure available for Mitochondrial disease, what can anyone do to make a difference in the lives of those living with Mitochondrial disease?
Randi had a dream, that someday there will be a special hospital for MITO patients of ALL ages; a place where everyone is trained and knowledgeable about MITO.
This is the reason why I founded MITO HOPE and HELP and why we are all here today!
While our MITO Community’s ultimate GOAL is for a cure, we must meanwhile live with Mitochondrial disease and having physicians and other support service providers, involved in the MITO patients’ care, who are knowledgeable about MITO and understanding of the specialized, coordinated and complex care needs makes all the difference! All our MITO population wants, is what patients who suffer from other complex diseases, requiring specialized care, already have!
Would you want or expect, if you or your loved ones had cancer, to be cared for by just anyone and hope they knew enough about cancer and did their best to help you OR would you want a cancer specialist in charge of your care and to receive that care at a specialized facility equipped and capable of providing such care? You don’t see cancer patients being denied appropriate, adequate medical care and the support services, associated with such a devastating disease. So why should MITO patients be denied these basic, essential and critical services?
We live in AMERICA, in the year 2014, yet for our MITO population it’s like living in a third world country! Furthermore, directly stemming from the tremendous lack of understanding about MITO, there is also a great deal of suspicion and tension, surrounding mitochondrial diseases. Unfortunately, this abundance of confusion continues to persist and is every bit as bad, if not worse than it was 20 years ago, when MITO was first acknowledged in the medical community.
MITO is definitely NOT a black and white medical condition and currently technologies do NOT exist that can ensure testing methods are 100% accurate!
I dare say, at least in my family’s case, that there still remain more unknowns about MITO than what is known at this point in time, unfortunately.
Sadly, these ongoing issues continue to lead to unnecessary turmoil for my family and the majority of our MITO community, time and time again!
One of the biggest misunderstandings associated with MITO is that often patients don’t “look” sick but by no measure is this an accurate indicator of how the person is feeling or doing.
On more occasions than I care to remember, I’ve been told by physicians and others in general that I look perfectly fine. I can tell you that this is very hurtful because the MITO patient is always dealing with multiple symptoms whether it is evident by “looking” at them or not. It is a daily struggle and challenge to do the most basic of things and make it through any given day.
I also feel my integrity and honesty are questioned when such remarks are made.
When doctor’s would say this to my daughters they would wait until the doctor left the room, look at one another, and then utter, “They just don’t get it!”
Here my kids are sick and suffering 24/7, hoping doctors will be able to alleviate their pain and suffering and all they repeatedly hear is, “Well you look good anyway.”
This is the reason some in our MITO community have a hard time accepting and dealing with their disease and why they are reluctant to seek care.
Think about it; Who in their right mind wants to subject themselves to the never -ending vendetta of scrutinizing, persecution and ridicule, brought about by the ignorance that abounds surrounding mitochondrial disease, especially when treatment options are so limited?
While my family has struggled for the last 30 years with MITO, one fight after another, the worst of all was when Randi was dying and we were in our greatest time of need; Had she not been denied care by her specialists who were already caring for her 24/7 outside of the hospital setting, and who intimately knew her, her very complex medical problems and MITO, she could have received appropriate, compassionate care. Instead, Randi’s care was relinquished to others who understood very little about MITO, didn’t know my daughter or her highly specialized and complex care needs. Precious time would not have been wasted fighting these individuals, which only caused us a great deal of additional unwanted and unneeded stress. My sweet and innocent daughter, who was only chronologically 28 years old, was repeatedly ridiculed and persecuted.
Taking her home to die was an easy decision, after all of the mistreatment she had been forced to endure throughout her lifetime!
It’s bad enough to deal with such a devastating disease like MITO, but even worse to have to repeatedly be subjected to the ongoing and unjust mistreatment brought about solely by the lack of knowledge of mitochondrial disease!
Now I’d like to delve into a few more of our MITO communities, many unmet needs, which can NO longer be ignored! They must be acknowledged and addressed!
What affects one member of a family, affects the family as a whole. We all know this, so when an entire family or multiple members are LIVING with MITO those challenges are significantly compounded!
Financially, you become overwhelmed and find yourself in ruins especially if the head of the family is one of the affected members. It is literally impossible to go on living without substantial, ongoing help from your family and /or community.
Additional help for only some in our MITO community, that can make the difference between living with MITO possible or not, is not right or acceptable!
At this time only those in our MITO community who have a diagnosis of developmental delay, as part of their MITO package, qualify for additional, ongoing, financial help, resources and support. What is the rest of our MITO community to do when it comes to non-covered medications, testing, support services, living expenses etc?
In our family we’ve experienced both sides of this coin. My daughters, qualified for additional critical assistance by means of OPWDD, due to their developmental delays and eventually, after struggling for many years without such, we began to receive financial help and other resources that make all the difference in our family’s ability to modestly make ends meet.
However, my son and I aren’t developmentally disabled, though we both suffer from progressive mental impairment and are both chronically ill. We, along with others who are not developmentally disabled, don’t have access to the financial help that literally means the difference between being able to afford to live with MITO or not.
Unfortunately, even the help we eventually received was too little, far too late for our family, and we ended up going through bankruptcy as a result.
All because I chose to lovingly provide my children’s 24/7 complex care in our home. Not that I would ever think of relinquishing their care to anyone else but as we all know the type of specialized, coordinated, complex daily care that is required doesn’t even exist anywhere else at this time!
In conclusion; I would say that the only thing worse than living with MITO and having to face all of the associated daily struggles, with very limited resources, is having Mitochondrial disease and not being able to prove it!
ALL ANYONE WHO IS FORCED TO DEAL WITH MULTIPLE, CHRONIC, UNEXPLAINED MEDICAL PROBLEMS WANTS IS AN ANSWER; PROVIDING CONCTRRETE PROOF, VALIDATING WHAT THEY ARE STRUGGLING WITH DAY IN AND DAY OUT IS REAL AND HAS A NAME!!! Our family is painfully aware of what it is like to live with a horrific, devastating disease like MITO for nearly 20 years without a diagnosis and very little help available!
Still today, although all of my family members have multiple medical problems only 2 of the 4 of us have a concrete diagnosis! Research scientists have been working for 4 years with samples from our entire family to try and come up with a blood test so all family members can be tested. To date, they have been unable to do so. We are simply told, we must continue to wait.
There are many more individuals and their families out there suffering with Mitochondrial disease who can’t validate their struggles because medical science has yet to come up with testing that is 100% accurate in everyone.
While the multitude of chronic challenges and frustrations are well established for the Mito patient and their families, we need to take into consideration that they are equally felt by our very few dedicated, hardworking and highly overworked specialized MITO healthcare providers, who also struggle with a lack of sufficient resources to help all of us.
MITO HOPE and HELP continues to actively work with the staff in our genetics and metabolism dept, here in Albany, to try and fund more of the specialized, coordinated care our local MITO population desperately needs. However, our efforts are hampered by the lack of money.
Our current health care system’s state, in general, only further negatively influences our MITO population.
That’s why, at this point in time, more than ever before, we must stand UNITED and work TOGETHER to resolve the multiple roadblocks that are in the way of MITO patients receiving adequate, appropriate medical care and support services which are so crucial to their well-being.
We thank each and every one of YOU, for taking time from your busy schedules today, for your support and willingness to help us!