Kristen K. - Quilt Finished in 2005
Born: November 28, 1989
Illness: Mitochondrial Cytopathy
Kristen K.'s Story
written by mom Joanne
Kristen was born on November 28, 1989 with great anticipation. At the time of her birth, it was obvious that Kristen had some unexpected health issues. Kristen was extremely cyanotic (blue) and an echocardiogram revealed a mix of congenital heart defects. No problem. Kristen would receive the best Pediatric Cardiac Care that was available. Nine weeks after she was born, Kristen had an episode of not breathing while being asleep. Kristen was found grey in color, pulseless, not breathing. Cardiopulmonary resuscitation was initiated and successful. Fortunately, Kristen recovered from the event seeming fine. She was admitted to a local hospital where no common abnormalities could be found. The only concern was an abnormal pneumogram which demonstrated hundreds of apneic episodes. Kristen was discharged to home with an apnea monitor. The apnea monitor bellowed its resounding alarm with great frequency.
For the next two years, our baby was slow to grow, had very little energy for play and had recurrent apneic and bradycardia events. Over her first two years of life, numerous medications were tried to control the events with no improvement. At age two Kristen had extensive studies which revealed that she had apnea episodes with hypoxia, hypercarbia and obstruction. Kristen’s trachea was being compressed by an abnormal artery. Surgery was performed immediately hoping that her symptoms would resolve. Unfortunately, she did not improve so Kristen was once again admitted to the hospital. This time the specialists confirmed the diagnosis, a very rare disease called Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse. Kristen was immediately referred to Children’s Hospital of Wisconsin for confirmation of the diagnosis in a Pediatric Sleep Medicine Center and a discussion of treatment options. In layman's terms, CCHS means the neurological absence of the appropriate trigger mechanisms to provide adequate breathing over an extended period of time.
With Dr. Rice’s support, we initiated nocturnal ventilatory support for Kristen using the NEV 100 Negative Pressure Ventilator and the Port-a-Lung. It took Kristen almost six months to actually fall asleep inside of her tank with the ventilator running. With the assistance of diligent homecare nurses, we helped Kristen adjust to a major lifestyle change with patience and persistence. This regimen seemed to work well until Kristen started attending Kindergarten. It seemed that she could not “remember to breathe” or “breathe effectively” and concentrate on academic studies. Kristen was tiring easily, sick and cyanotic often. Additional studies indicated that Kristen needed additional ventilatory support to function as a “normal” child throughout the day. We embarked upon a new adventure and added intermittent daytime ventilatory support using a chest cuirass. Over the next few years it seemed as if Kristen was adding new symptoms and other organ system abnormalities with great regularity. By the time she was eight, the list included: intermittent hearing loss, intermittent paralysis with the inability to control or move her eyes or speak, abnormal amino acid and lactate levels, severe gastrointestinal dysmotility, loss of muscle tone, exercise intolerance, and nerve related urological issues.
Our physicians felt there had to be an explanation for all of the signs and symptoms Kristen had experienced or developed and referred her to Cleveland Clinic in November or 1998 to see an expert in Mitochondrial and Metabolic Diseases. At that time a formal diagnosis of Mitochondrial Cytopathy was given. The Mitochondria--the part of the cell responsible for energy production--is very much like the power supplier that provides energy to your home. If the mitochondria (power supplier) are defective, your body cannot function as it should. The brain becomes impaired, muscles start to twitch spastically and weaken, the heart does not pump correctly, vision becomes impaired and the list can go on. For many children and adults with mitochondrial disease, this is exactly what they experience.
Kristen is vulnerable to this disease in both the awake and sleep state (worse during sleep) to apnea, hypoxia, hypercarbia, potential cardiac arrest and even death if appropriate intervention is not immediately available. Her oxygen and carbon dioxide levels are visually monitored continuously. Her lack of ability to breathe, appropriately, independently means that constant observation is necessary. Kristen has the form of CCHS that requires ventilatory support at all times during sleep, intermittently during the day, and continuously during periods of illness.
The highly skilled home nursing staff, provided by Melmedica Children’s Healthcare, is responsible to provide assessments to the physicians so they can determine if the signs/symptoms Kristen is exhibiting are the result of metabolic or respiratory acidosis (or a mix of both). Also, whether the signs/symptoms Kristen is exhibiting are related to instability or abnormalities in her cardiovascular vs. neurological systems. The treatment we prescribe is based upon the assessments of the skilled nursed. After treatment is initiated, we rely on the nursing assessment to determine if the treatment is adequate, ineffective or if adjustment is required secondary to adverse event reporting. Because of the underlying disorder, Kristen lacks the ability to feel the effect of low oxygen or high carbon dioxide levels for herself; therefore she is unable to inform others of her respiratory and cardiac related needs. Kristen's care, given the rarity and complexity of her medical condition, is exceedingly complicated and tedious. She requires exceedingly frequent rest breaks/naps and monitoring of her respiratory, cardiac, gastrointestinal and neurological status.
Kristen requires someone in attendance at all times who can work to keep her breathing adequate every minute (day and night). Failure to provide adequate support for her multiple medical needs, for even a few minutes, could result in brain injury or other serious harm or death. Kristen’s medical needs are many. She is a medically complex child and receives care from physician subspecialists in cardiology, neurology, gastroenterology, metabolic genetics, neurometabolics, otolaryngology, pain management service, orthopedics and multiple forms of therapy for restorative/rehabilitative care. In June of 2003, Kristen was referred to Mayo Clinic for a comprehensive evaluation to confirm her diagnosis and fine tune her medical care. Now Kristen receives her on going care at Children’s Hospital of Wisconsin with trips to either Cleveland Clinic or Mayo Clinic every three months for metabolic disease management.
As Kristen’s disease state progressed it became apparent that even with dedicated parents and homecare nurses, there were times her needs could not be met. When Kristen loses the ability to speak due to high lactate levels she can’t communicate her distress to the adult (and there are no visual cues to her level of distress). When Kristen is apneic and can’t be stimulated to breathe, one pair of hands couldn’t respond and summon assistance. The biggest issue was Kristen’s need to have some, albeit minimal, independence. She needed time without a set of eyes directly observing her. Her psychosocial needs demanded she attend local youth group functions without a mom in the same room or wandering a store to shop without a direct chaperone. To bridge the gaps and afford Kristen some independence we explored what other options might be available to assist her. After discussing these concerns with the physicians and multiple parents, we decided that a trained service dog would be up to meeting the challenge.
In November 2002, Kristen and “mom” traveled to East Coast Assistance Dog, Inc Training Center in Dobbs Ferry, New York where they were introduced to Brooklyn. Brooklyn is a beautiful, smart, well trained bundle of fur, energy and talent. Brooklyn and Kristen are now a team. Brooklyn barks on hand signal to summon help when Kristen can’t communicate, retrieves the telephone to summon paramedic assistance in an emergency, stimulates Kristen to breathe when her effort becomes too shallow during awake periods, and “gets help” when the ventilator or apnea monitor alarms sound. Brooklyn can also summon elevators, turn lights on and off, open and close doors, pull Kristen’s wheelchair short distances and retrieve or carry items Kristen needs. Brooklyn has made life easier for everyone involved with Kristen’s care and life. Most of all, Brooklyn is making Kristen’s life happier, easier and greatly improved her self esteem. Kristen had the privilege of presenting the Graduation Address.
In many ways Kristen is just a typical girl for her age. When she's not completed home school assignments, she hangs out with friends from our church youth group, watches, television, reads or enjoys art and craft activities. Kristen is a bright, vibrant, happy, loves life and lives it to the fullest. Kristen loves to travel (especially to Disney World) and her favorite activities are scrap booking and writing pen pals. She faces each new challenge with dignity and grace, blessing our lives immensely.
Written by Kristen's mom Joanne
