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Isla and Kian Ritchie
11/14/2016 Latest post:
To try and keep friends and family updated when we can we've started this CaringBridge. Those who know, have asked for updates. Other friends haven't been aware of what's going on in our world. This is our clumsy effort to update everyone. Bear with us. We truly appreciate everyone's love and support.
Our Story In the spring of 2015, Isla woke us in the morning with tremors in her arms that wouldn't stop. Every parent dreads that feeling, of not knowing what to do. We rushed to the ER. The ER sent us home with shrugged shoulders but we knew there was something there. We visited a couple of pediatric neurologists. Her 1st EEG was done to get a “baseline, just in case”. Within a couple of hours, I was getting a call from the neurologist. You know, that’s never a good sign. The results were definitive for epilepsy. Our third neurologist, an epileptologist, conducted a battery of tests to try and identify the source. Unexpectedly, her genetic testing came back with a hit. Isla showed a mutation in her mitochondria. We were referred to a mitochondria specialist but it would be months before we could actually see anyone. In the meantime, we began to re-learn the ins and outs of mitochondria from high school biology and what a diagnosis of mitochondrial disease might mean. The prognosis was not fantastic.
We learned that this disease can show up at any age. The later it manifests in life, the better, as it is progressive and currently without a cure. The “at least you caught it early” saying does not apply here. I was put in touch with a mutual friend whose three children also have mitochondrial disease. She has been a great resource but could not offer a lot of hope. She told me of seeking out other families in the beginning but as the children started passing away, she had to close ranks and be much more selective those kept close to her family.
In parallel, we began testing our son Kian. While his blood work did not find the same mutation, this result was not definitive. He fits the general description of mito disease even more than Isla. He checks the boxes for more than two compromised systems indicating that it is fairly likely he also has mito disease. Kian has issues with his endocrine and gastrointestinal systems, chronic infections, and pulmonary issues.
Both children have undergone a battery of tests with amazing attitudes. We are in awe of our children every day. It breaks our hearts that our children should have to "be strong" though.
Isla’s seizures have continued to progress over the last year and a half. She has a handful of different kinds of seizures: generalized tonic-clonic (commonly known as grand mal), complex partial, myoclonic, and possible absence and simple partial seizures. They have not been controlled with medication. With the potential for long-term damage to her brain and SUDEP (Sudden Unexpected Death by Epilepsy), the goal is ZERO seizures. In October 2016, Isla had a VNS (Vagal Nerve Stimulator) implanted. The VNS is a device implanted in her chest leading to a wire wrapped around the vagus nerve in her neck. It sends regular electrical impulses to her brain and stronger surges when it detects a possible seizure. The hope is to reduce the frequency and severity of her seizures. We are in the process of turning up the intensity of the VNS over the next few weeks. It will be a couple of months before we know how well it works for Isla.
We have a seizure monitor alarm on her bed so we can sleep at night. She has a seizure alert watch she wears during the day so she can sometimes be alone. We are also considering a seizure alert dog to give her a greater feeling of independence and security. It’s a hard road for a young girl just turning 13 at the end of November. Her last sleepover ended with at least one tonic-clonic seizure. Instead of shopping for birthday presents this weekend, we are looking into a wheelchair for those days when she can’t get around the house on her own. Her good days are great and so incredibly normal, you can easily forget there is anything wrong at all.
We've considered a seizure therapy dog. As you can imagine, Isla is 110% on board with this plan. Our current dogs have not been consulted. It isn't something we take lightly though because it is truly a constant companion for her. The process is intensive. Stay tuned on that front!
Mito is a complicated issue. It can manifest 1000 different ways and each patient needs to be treated as an individual case. Isla’s mito disease is located in an area that isn’t well known or researched. As of today, there is no cure for mitochondrial disease so we treat her symptoms and watch her systems – her heart, lungs, liver, muscle and autonomic systems. We know it’s affecting her brain. We also know her autonomic system is impacted with something called dysautonomia. Essentially when Isla is upright her heart doesn’t pump oxygen to her legs, while her heart rate and adrenaline climb. Imagine how dizzy and weak you’d feel after only a few minutes of this. Kian has a milder but related version of this as well.
We are fortunate enough to have a truly amazing Mito specialist here in Houston. There are not many Mito specialists in the US and we are blessed to have what we see as the best here on our doorstep. We have even traveled to Boston to consult Boston Children’s. Fortunately, we found our doctor here to be head and shoulders above them!
We are waiting on a few more test results for the kiddos with follow-up appointments between now and March 2017. We now have a hefty Rolodex of specialists. If you ever have questions about neurologists, epileptologists, cardiologists, pulmonologists, gastroenterologists, endocrinologists or genetic doctors, we’re happy to share what we’ve learned so far.
LOVE, The Ritchie Family
What is Mitochondrial Disease? Some call it: The Invisible Disease. It’s a daily struggle when you look normal on the outside and feel like you’re falling apart on the inside.
Mitochondrial disease is when mitochondria, specialized compartments in the blood stream responsible for processing oxygen and converting food into energy, fail. When they fail, the body is limited on the amount of energy it can generate within a cell and the cell becomes injured or dies. If this process continues, whole systems throughout the body can fail and can threaten a person’s life. The disease is most commonly present in children of varying ages, but it can also develop in adults.
Most susceptible to damage caused by mitochondrial disease, according to the United Mitochondrial Disease Foundation, are the brain, heart, liver, skeletal muscles, kidney, and the endocrine and respiratory systems. Cells are not able to make RNA or DNA in order to grow and function without functioning mitochondria.
The development of mitochondrial disease is caused by either inherited or spontaneous mutations in genes, which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Common symptoms associated with mitochondrial disease are: • loss of motor control, • muscle weakness, * • muscle pain, * • gastro-intestinal disorders, * • cardiac disease, • liver disease, • diabetes, • developmental delays and poor growth, * • respiratory complications, * • seizures, * • visual and hearing problems and • infection susceptibility. *
* the soup-mix of symptoms we are addressing in our home today There is currently no cure for mitochondria disease, so treatment focus is on reducing symptoms and delaying or preventing the disease’s progression with vitamins, supplements, diet therapy and anti-oxidant treatments. For patients and families impacted by this disease, we have to believe there’s potential for better solutions! More research and funding is needed.
Who has it? It can show up at any age, though most often shows up in children of varying ages. More children die from mitochondrial disease than childhood cancer. (UMDF) Every 15 minutes a child is born who will develop mitochondrial disease by the age 10. (UMDF)