Make A Child Smile

Kristen'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. 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. Cardiopulmonary resuscitation was initiated and successful. Fortunately, Kristen recovered form the event seeming fine. At age two Kristen had extensive studies which revealed apnea episodes with hypoxia, hypercarbia and obstruction. Kristen’s trachea was being compressed by an abnormal artery. Surgery was performed immediately.

Unfortunately, she did not improve requiring another hospitalization. Her diagnosis was confirmed, 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.

Originally, Kristen used the NEV 100 Negative Pressure Ventilator and the Port-a-Lung. With the assistance of diligent homecare nurses, we helped Kristen adjust to this major lifestyle change. 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 added intermittent daytime ventilatory support using a chest cuirass. Kristen recently transitioned to a ventilatory support system called the pneumobelt with the LTV 950 ventilator. This system allows her to sleep in a “real” bed and, also, to have the ability to walk around and do “normal” things when her ventilator is in use.

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 when awake and asleep. She might have apnea, hypoxia, hypercarbia, potential cardiac arrest and even death if appropriate intervention is not immediately available. Her inability 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.

Our highly skilled home nursing staff, 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. 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’s medical needs are many. She is a medically complex child and receives care from physician subspecialists in cardiology, neurology, gastroenterology, pulmonary, neurometabolics, otolaryngology, orthopedics and multiple forms of therapy for restorative or rehabilitative care.

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 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 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 was introduced to Brooklyn at East Coast Assistance Dogs training center in New York. 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 teenager. When she's not completing home school assignments, she hangs out with friends from our church youth group, watches, television, reads or enjoys art and craft activities. Kristen is exploring career and school options. She recently was accepted into a group for authors of children’s books. Kristen is a bright, vibrant, happy, young adult who loves life and lives it to the fullest. Kristen loves to travel and her favorite activities are scrap booking and writing pen pals. She faces each new challenge with dignity and grace, blessing our lives immensely.