Mitochondrial Disease Awareness Week September 15-21, 2013

Mito week

MItochondrial Disease Awareness Week is September 15-21, 2013.

It’s a time for mito to be recognized, to raise awareness, and often a time for many fundraising events for mito to be held as well.

Mito is suspected to affect 1 in 6000 people. Mitochondrial diseases are difficult to diagnose and there is no treatments or cure.

I’ll be messaging (on FB), tweeting @solidfooting and blogging (here) about mitochondrial disease this week. I’ll also be changing my porch light bulbs to green ones – LIght Your Porch Green – in honour of those living with mito and those that have left us. I invite you to do the same.

Here is Kate’s mitochondrial disease story as told on her Caring Bridge site:

At 4-6 months of age, I started to notice that Kate’s motor development was behind and that she did not seem to be paying attention to sound or making normal baby babbling noises. She was not reaching typical developmental milestones for her age and was still very floppy, as a newborn would be. Kate was also experiencing other health issues such as chronic anemia and episodes of unexplained illness and fever. I also noticed that she did not appear to be responding to my voice or to sounds from her baby toys. The first few years of Kate’s life she cried all the time and she barely slept. My days were spent holding her and trying to console her the best I could.  Our GP did not seem to have any answers for us, and was at a loss of what to do.  Several trips to the emergency department only resulted in long waits and being sent home with little information, or investigation, and no change in Kate’s status.

When Kate was 9 months old, at the urging of a pediatrician friend, we engaged a consultant pediatrician to help us begin a broader investigation into Kate’s health.

In November (2008), Kate was hospitalized at CHEO for ‘irritability’, fever, and cyclic vomiting. This was the fourth time Kate experienced the symptoms which we have come to call her ‘episodes’ . It was during this hospitalization that an intensive examination of Kate began diagnostically.
The ‘episodes’ began in June 2008 and have increased in frequency and intensity.  The pattern is typically the same;  vomiting, intermittent fever, she stops drinking and eating, discomfort/pain, irritability, extreme lethargy lasting 7+ days. She has very little strength or energy and is unable to perform the skills that she usually does, like walking, talking, eating, It takes Kate 1-2 weeks to ‘normalize’ after a typical episode. The acuteness of these episodes began the investigation and diagnostic odyssey into Kate that lasted over four years. Kate has been hospitalized countless times and has undergone many invasive tests – MRI, CT, bloodwork, urine, lumbar puncture, gastric tests, ultrasound, x-ray, muscle biopsies, bone marrow aspirate. She has become a human pin cushion.

On November 7th, 2011, Kate was diagnosed with a rare form of mitochondrial disease called SIFD. Sideroblastic Anemia, Inflammation, Periodic Fever and Developmental Delay. This is a recessive genetic disorder that has no treatment or cure. To date there are only 15 known cases, 4 of these children (including Kate) are alive today.

At 13 months, Kate was diagnosed with permanent sensorineural hearing loss caused by her mitochondrial disease. In February 2010, after symptoms of additional hearing loss, it was determined that Kate’s hearing loss has progressed and is now severe to profound in both ears.  After very careful consideration due to complications from anesthetic, Kate received bilateral cochlear implants at the Hospital for Sick Children in Toronto in November 2010.  The implants were activated at CHEO on December 13, 2010. She is undergoing intense therapy to teach her to listen and speak.

Since 9 months of age, Kate has had more than 30 ‘episodes’ requiring multiple hospitalizations.  Kate has been seen by doctors at The Children’s Hospital of Eastern Ontario (CHEO), Sick Kids in Toronto, McMaster Health Sciences Centre, and The Mayo Clinic in the US.  Her blood and tissue have been studied at research institutions around the world. We have experienced what the medical literature calls a ‘medical odyssey’. Kate is also responsible for the diagnosis of several other children, bringing closure to other families who were searching for a diagnosis.

Kate is now part of the Coordination of Complex Care pilot program at CHEO to help coordinate her care and better manage her episodes.  She is also a palliative care patient at Rogers House.

Kate’s medical condition includes: – Global developmental delay – delayed myelination on MRI – Sensorineural hearing loss (profound) – Cyclical vomiting + and hemodynamic instability with episodes of unexplained fever, illness and pain – Sideroblastic anemia – Nephrocalcinosis and hypercalciurea  – Chronic constipation – Immunodeficiency (Hypogammaglobulinemia) – Post-anesthesia complications – Spinal syringomyelia (syrinx) – Osteopenia – Pili Torti – Ataxia – Weakness and Fatigue

When Kate is feeling well she walks independently, she loves to ‘swim’ and go to her gymnastics class. She loves to go on bike rides, riding behind mom in a trailer. She is communicating with gestures, sign language, and a few words.  She attends kindergarten at our local school thanks to the support a one on one educational assistant, and resources that allow her regular rest periods.

Many of Kate’s days are compromised by severe fatigue. We manage Kate’s energy by limiting her exertion and conserving the energy she does have. Kate cannot walk long distances and she uses a stroller to get around (soon to be a wheelchair). She wears and AFO brace to steady her right leg, and on days when her ataxia is particularly bad, she will wear a helmet to protect her.

Kate also has wonderful periods of feeling ‘well’, where her disease seems to be less aggressive and where her physical abilities and energy seem more typical. These are wonderful days, and we are excited when they stretch into weeks or months.

It is sometimes exhausting to relay Kate’s story as it is complex and ever-evolving.  We are keeping family and friends updated on her health and diagnostic situation via our journal entries on this site.

Thank you for visiting and for your well wishes, support for our family, and positive thoughts and prayers for Kate. She is a beautiful, loving, intelligent and stoic little girl, and deserves the best this world has to offer.

Julie, Brian, Jack and Kate

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