Discovering that your child has, or you yourself have, a rare disorder can come as a great shock. When our youngest daughter was diagnosed with a rare disease I felt a mixture of emotions; sadness, confusion, numbness, anger, guilt, "why me?", isolation, bewilderment and even a sense of bereavement, sometimes sadly literal but very often a sense of grief for the child my husband and I had eagerly awaited. I felt overwhelmed at my lack of knowledge about my child's condition. Even as a nurse by profession, I was confronted by a host of diseases, many that had no name and were extremely difficult to diagnose.

 

The needs of those parenting children with chronic medical conditions - even those with the same disease process - can vary tremendously. I’d like to take you on a journey. This particular journey is very personal. It is the path less trodden that our family ventured upon when seeking answers to the question, “What is wrong with my baby?” which soon became, “What is wrong with our daughters?”

 

The Journey

Tom and I had what some might call an ideal situation. We were happily married, lived in a modest home in the suburbs of Chicago and were the proud adoptive parents of two presumably healthy children, Joshua and Annalies. Unexpectedly, our adoption agency called to inquire if we would be willing to add a third child to our family. The answer was a resounding yes. This query came because Annalies’ birthmother had recently met with the adoption agency, informed them that she was expecting another baby and she desired that her biological children be raised as siblings, if at all possible.

 

Kristen was born on November 28, 1989 with great anticipation. At the time of her birth, it was obvious that she had some unexpected health issues. Kristen was extremely cyanotic and an echocardiogram revealed a mix of correctable congenital heart defects. No problem. Kristen would receive the best pediatric cardiac care that was available.

 

Nine weeks after she was born, Kristen was found grey in color, pulseless and not breathing while asleep. Cardiopulmonary resuscitation was successfully initiated. 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 and she was discharged to home with an apnea monitor.

 

The apnea monitor bellowed its resounding alarm with great frequency. In an attempt to determine the cause for recurrent apneic and bradycardic events, our family physician admitted her into the hospital for additional testing, which again showed no explanation for the problem. For the next two years, our baby was slow to grow, had very little energy for play and had recurrent apneic and bradycardia events.

 

At age two Kristen was admitted for extensive clinical monitoring during which a more formal sleep study was performed. It revealed that she had apnea episodes with hypoxia, hypercarbia and obstruction. A computed tomography scan was performed which revealed that Kristen’s trachea was being compressed by an aberrant subclavian artery. Surgery was performed hoping that in relieving the tracheal compression, the apnea, bradycardia and cyanotic episodes would resolve.

 

At the time of this cardiac surgery, it was determined that the congenital heart defects had almost all completely self-resolved. Kristen seemed to improve with more energy, less apnea, minimal bradycardia and less cyanosis for four to six months.

 

Then with the onset of a typical otitis media, it seemed that all of the clinical improvement was immediately gone. By this time, I’d completed an extensive Medline Search and read countless articles relating to disorders of respiratory control in children. The only disease that seemed to fit her clinical picture was something called Congenital Central Hypoventilation Syndrome. 

 

Kristen was once again admitted to the hospital for an extensive evaluation, and this time, in July of 1992, the physicians confirmed the diagnosis that we had been searching for, Congenital Central Hypoventilation Syndrome or CCHS or Ondine’s Curse.

 

This was based on their findings of bradycardia, apnea, high retained CO2 levels in her lungs from inefficient respiratory function awake and asleep, no heart rate variability, no ventilatory responses to changes in oxygen or CO2. All of the additional clinical studies that were done seeking other disease states or process that could cause these findings came back negative. It should be noted that not all children exhibit the same traits. 

 

In layman's terms, CCHS means the neurological absence of the appropriate trigger mechanisms to provide adequate breathing over an extended period of time. CCHS was discovered in the late '70s with the advent of pediatric respirators that provided the mechanism to recognize and treat the symptoms. With increasing knowledge of CCHS and different treatments modalities, CCHS is now considered a treatable disorder, which will be included in Part 2 in the next issue of Ventilator-Assisted Living.

 

Our Journey Continues: Another Affected Child

The picture of perfect health: Annalies! She was our healthy child. Throughout early childhood Annalies had minimal health issues - mild hypotonia (though to be secondary to prematurity), hyperactivity and a rare migraine headache. That picture of healthiness evaporated for her with the onset of puberty.

 

It seemed like overnight, the hyperactivity was replaced by excessive sleepiness. New clinical signs and symptoms emerged almost daily. Our family doctor diagnosed the following over a two month period of time: ventricular tachycardia, supraventicular tachycardia, neurocardiogenic syncope, hypoxia, stroke-type events, mixed seizure activity, liver function abnormalities, migraine headaches, gastrointestinal dysmotility, asthma, apnea secondary to airway obstruction, cyclic vomiting and immune function abnormalities.

 

Her primary respiratory issue was Obstructive Sleep Apnea Syndrome. As the muscles of her airway become weaker she has experienced more apnea, hypoxic and hypercarbic insult. Neither our family physician nor any of the local physicians consulted could explain what was happening. They all agreed that it was likely Annalies’ medical issues where in some way related to the myriad of medical problems Kristen had, but no one could come up with an explanation. 

 

Once again, a subspecialist that thought outside of the box agreed that a relationship was probable and the search for a global diagnosis was initiated. That physician and I conducted a massive Medline and internet based search for an explanation and the likely culprit was Mitochondrial Cytopathy (Mitochondrial disease is a rare, chronic, genetic disorder that occurs when the mitochondria of the cell fail to produce enough energy for cell or organ function. There are many forms of mitochondrial disease with clinical presentations that vary widely from individual to individual.).

 

In an attempt to obtain a formal diagnosis, Annalies and Kristen were referred to several physicians specializing in diagnosis and management of Mitochondrial Disease, and after obtaining numerous laboratory studies and fresh muscle biopsies we were presented with a very bewildering diagnosis: Mitochondrial Cytopathy. 

 

Fast forward to 2015, both daughters now have clinical and genetic confirmation of two rare or unique diseases: Congenital Central Hypoventilation Syndrome and Mitochondrial Cytopathy. A recent clinic visit with a nationally recognized dysautonomia specialist yielded this comment, “Your daughters have the distinction of having two diseases which together create some of the worst dysautonomia I have ever seen and require the highest level of homecare support available to maintain the ability to live and have a great quality of life.”