Mitochondrial Disorders
Commentaries
by Cristy Balcells
For six months we have been fighting with our insurance company in order to get our daughter Eva a wheelchair. She turns four in April, and all of a sudden we left the world of overgrown baby items and crossed over into the land of special needs and durable medical equipment. Eva has Leigh's disease, a form of mitochondrial disease, that affects her muscles and neurologic system such that she cannot walk or talk. Sounds terrible, right? In reality, once we got over the diagnosis, we find so much joy in Eva. For a little one who doesn't walk or talk, she has more personality and charisma than many adults that we know.
The Pregnancy Journal of a Mito Mom
by Melody Pohla
As a little girl, I dreamed of all the things little girls often dream of...what I would be when I grew up, who I would marry, what kind of house I would live in, and of course, my future children. How many would I have? Would they be boys or girls? What would I name them? What would they look like? In those dreams, the children I imagined would always be happy, have smiles on their faces, and be running around outside without a care in the world. I never would have imagined children could be any other way than in my innocent dreams as a little girl.
My husband and I decided to start a family and, despite months of trying, found ourselves unable to conceive. After a fertility workup, I was found to have infertility due to polycystic ovaries and my husband had surgery to relieve fertility issues of his own. This was an early sign that I might have Mito myself, but it would take many years before this was even considered. With the help of fertility drugs, our trusty basal thermometer, and a temperature plotting chart, we found ourselves staring at a positive pregnancy test about six months later. I was never more excited and looked forward to the day I would hold my child in my arms.
This Month's Focus: Mitochondrial Disorders
Introduction to Mitochondrial Disorders and Mito Resources
This month's edition takes a brief look at Mitochondrial Disorders, a collection of genetic diseases that affect the mitochondria within cells by limiting the amount of energy they can produce. Since mitochondria are responsible for creating energy within the cell, thereby supporting organ function and energy throughout the body, defects in the mitochondria lead to a wide variety of chronic conditions with variable symptoms and severities.
How many of our readers have heard of MNGIE, Leigh Disease, or Complex I Deficiency? These are just a few of the many disorders considered to be Mitochondrial Diseases, many of which are listed below in Table 1.1 While relatively common (about 1 in 3000-4000 births), and perhaps even more common than thought in milder forms, it is only within the past few years that scientists and doctors have begun to focus more on Mitochondrial Diseases. Awareness of Mitochondrial Disorders remains in its infancy in the public at large, and our hope is that this edition will help to provide more information and awareness about these diseases.
Symptoms of Mito: A Surprisingly Short List
by Keely Schellenberg
I'm often asked by parents searching for a diagnosis if their child's particular symptoms--usually listed off like specs on a new car, so ingrained are they in life with a sick child and no answers--sound like Mitochondrial Disease. Sometimes it is asked in the obvious context of their wanting to hear, "Absolutely not, it can't be Mito," and other times they have reached a point in the search where they want nothing more than to hear, "Definitely it HAS to be Mito," just so they can have an answer.
Unfortunately, the reality is quite simply not that cut and dry. In fact, my first piece of advice to most parents new to all of this is if they see a doctor who tells them that their child cannot have Mito or definitely has Mito based on symptoms and history alone, it is time to find another doctor. Nobody, not even the best doctors out there, can look at a child and pass down a final judgment on Mito based solely on symptoms without a complex set of test results in hand.
Diagnosing Mitochondrial Disorder: Our Journey through the Genetic Jungle
by Melody Pohla
Mitochondrial Disorder? Respiratory chain deficiency? These words were as foreign to me the first time I heard them as if the doctor who suggested them was speaking another language. This was a diagnosis the neurologist mentioned as a possibility for my then ten-month-old son. My mind was spinning as I went home to do what I always do to be an informed parent...research. The things I read were frightening and bleak. I could not believe this could be true! But, the more I read, the more I realized that many of the symptoms not only fit my baby to a tee, but they also explained so much of what we were seeing in my then two-year-old son. They just made sense. This was strangely a relief to me as we had been struggling with trying to figure out my older son's issues for years before my second son was even born. It was then that our journey with Mitochondrial Disorder began.
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Mito Plus: One Family's Experience with Mito, Autism, and Eosinophilic Disease
by Jennifer Peterson
Thomas is the first of our two children. While pregnant with him, my husband and I had no idea we were about to enter the world of special medical needs. Many of the medical problems he experienced were easily written-off as "colic" or "newborn rash," and his missed developmental milestones were because, "he's a boy...they are always slower than girls." What I had thought was the "worst of the worst" of first-time parenthood was in reality the manifestation of multiple separate medical and neurological conditions. His colic was soon discovered to be GERD. In hindsight, his newborn rash was not the problem--it was hives from being in direct contact with substances he had severe allergies to. Our pediatrician at the time took a wait-and-see approach to the sleepless nights and growing list of skills our son did not acquire, since, in fact, this was three years before the Early Signs of Autism campaign made national headlines.
The diagnoses began with severe food allergies and Eosinophilic Gastroenteritis--an immune disorder of the GI tract in which certain white blood cells, eosinophils, are somehow "confused" and attack the proteins found in most foods that are ingested. Fast forward a year and add on what our local intermediate school district has found to be an Autism Spectrum Disorder. It was comforting to think that the prior Eosinophilic Disease diagnosis eased us into the mindset of the Autism bombshell. To us, it was more or less something else to add to the list of what was different about our child. For a couple of years we had a lot of ups and downs with Thomas's health. We couldn't quite explain it and neither could his team of doctors. And then one day things changed.
by Jennifer Peterson
Thomas is the first of our two children. While pregnant with him, my husband and I had no idea we were about to enter the world of special medical needs. Many of the medical problems he experienced were easily written-off as "colic" or "newborn rash," and his missed developmental milestones were because, "he's a boy...they are always slower than girls." What I had thought was the "worst of the worst" of first-time parenthood was in reality the manifestation of multiple separate medical and neurological conditions. His colic was soon discovered to be GERD. In hindsight, his newborn rash was not the problem--it was hives from being in direct contact with substances he had severe allergies to. Our pediatrician at the time took a wait-and-see approach to the sleepless nights and growing list of skills our son did not acquire, since, in fact, this was three years before the Early Signs of Autism campaign made national headlines.
The diagnoses began with severe food allergies and Eosinophilic Gastroenteritis--an immune disorder of the GI tract in which certain white blood cells, eosinophils, are somehow "confused" and attack the proteins found in most foods that are ingested. Fast forward a year and add on what our local intermediate school district has found to be an Autism Spectrum Disorder. It was comforting to think that the prior Eosinophilic Disease diagnosis eased us into the mindset of the Autism bombshell. To us, it was more or less something else to add to the list of what was different about our child. For a couple of years we had a lot of ups and downs with Thomas's health. We couldn't quite explain it and neither could his team of doctors. And then one day things changed.
Specialty Articles
Pain and Palliative Care
Choosing Palliative Care: Not Just for the Terminally Ill
Most of us are familiar with Hospice Care for children and adults in the very last stages of life. But many families know less about Palliative Care, a similar specialty that may be extremely helpful for children with life-threatening chronic conditions whose quality of life is profoundly affected by their disorders. In my daughter's case, Palliative Care took her from a child who never smiled because of her constant pain and turned her back into a child who is thriving and enjoying life, despite the complexities of her condition.
What is Palliative Care?
A paper advocating for its existence describes it as, "the science and art of lessening physical, psychosocial, emotional and existential suffering."1 It is intended to be offered to children with life-threatening conditions from the moment of diagnosis all the way through the entire illness, regardless of whether the child dies or is cured. The American Academy of Pediatrics (AAP) position paper on Palliative Care emphasizes that death is very difficult to predict for many children, and Palliative Care should be offered to all children with life-threatening conditions.2 It should not be reserved for children who are imminently dying or who have decided to stop pursuing curative medical care.
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GI and Nutrition
Fluid Requirements for Children
As the summer months approach and temperatures rise, dehydration becomes a concern for children, particularly those who have feeding problems or other medical issues. Keeping your child hydrated is one of the simplest ways to maintain health and prevent medical problems. But how do you know how much fluid your child needs, especially if your child does not drink fluids orally or has difficulty associating thirst with drinking? The easiest way to make sure your child is hydrated is to keep track of how much urine she is producing, with babies having at minimum 4-8 wet diapers a day, and older children urinating at least 4-8 times a day.
Fluid Requirements for Children
As the summer months approach and temperatures rise, dehydration becomes a concern for children, particularly those who have feeding problems or other medical issues. Keeping your child hydrated is one of the simplest ways to maintain health and prevent medical problems. But how do you know how much fluid your child needs, especially if your child does not drink fluids orally or has difficulty associating thirst with drinking? The easiest way to make sure your child is hydrated is to keep track of how much urine she is producing, with babies having at minimum 4-8 wet diapers a day, and older children urinating at least 4-8 times a day.
Feature
Advocacy and Disability
The Crisis in Pain Control for Children who are Complex, Non-Verbal, or Cognitively Impaired
A previously healthy thirty-year-old lawyer is wheeled into the Emergency Department with horrible abdominal pain. He is moaning and vomiting. Ultimately, he is diagnosed with pancreatitis, an extraordinarily painful inflammation of the pancreas, and given IV fluids and IV narcotic pain medication. He recovers uneventfully in three days and is discharged home with no further complications.
A child with multiple medical issues who is non-verbal but uses a communicator has been screaming in agony continuously for the past week. Using her communicator, she has stated her stomach and back hurt. She is also vomiting and has a distended abdomen. Ultimately, she is diagnosed with pancreatitis, admitted to the hospital, and given regular Tylenol and IV fluids. She continues to scream on the second day after diagnosis despite the Tylenol, leading her doctors to evaluate her for ear infections, broken bones, and a urinary tract infection since they cannot understand why she is still screaming. She develops severe hypersensitivity in her gastrointestinal tract in part due to uncontrolled pain, and is fully dependent on IV nutrition, in a Palliative Care program, and on methadone due to severe pain two years after diagnosis.