I first met my wife over 16 years ago at the
hospital where we both worked. (Linda is a respiratory therapist, and I’m a
pediatric hematologist/oncologist). Our marriage can be characterized by
running into more than Life’s usual bumps and bruises, but what is pertinent
to this article has to do with what has gone on in my life after eight years
of marriage since the birth of our son Rhys. Rhys, our third child (Linda’s
seventh pregnancy), came rather unexpectedly. For a change, Linda’s
pregnancy was rather uncomplicated—no bleeding, no severe vomiting, and
fortunately, no premature labor requiring a couple of months of
hospitalizations. Despite the uneventful pregnancy, though, Rhys was born at
36 weeks, just like his brother and sister, Justin and Ashley. However, he
showed us his uniqueness within the first 8 hours of life.
Since the time Rhys came home until nearly his
third birthday, he did nothing but vomit and cry. In fact, I suspected that
something was wrong when he couldn’t take the same formula as his brother
and sister, but in spite of my medical training, I found it very difficult to
believe my wife when she would comment about Rhys sometimes not breathing and
turning blue. After his circumcision when he was eight days old, things really
began to change. He started to scream gut-wrenching screeches 16 to 20 hours a
day. There was nothing that would settle him down. During his first month of
life, he had been to the pediatrician many times because he was unable to keep
anything down other than some tea, and he was not gaining weight well. As a
result of all his vomiting, he finally needed to be admitted to the hospital
for surgery. What should have been a two to three day stay, ended up being a
10 day stay. It was during this time and many specialists later that a
geneticist told us that she thought Rhys had a life-threatening metabolic
disease.
Having been told about his disease when Rhys
was 5 weeks old, I decided that I didn’t want to deal with him anymore.
Although we lived in the same house, I refused to accept him as my son. He was
just some temporary guest – and a very rude one at that – living under the
same roof. I was willing to help Linda by doing my share of the demanding
physical work attending to Rhys', but I was unwilling to become emotionally
connected to him in spite of staying up all night three or four nights of each
week tending to him. I figured that if I did not get attached to him now, then
I wouldn't hurt as much when he died. After all, the specialists told us he
would not make it to his first birthday. I found it very difficult to tolerate
his endless screeching, and I came to understand how some infants become the
innocent victims of child abuse. I never got to the breaking point though, as
I was acutely aware of when I needed to leave the room. I was grateful that my
work became very hectic and was happy to immerse myself in my job to avoid
dealing with my son and my family. What made matters worse, though, were the
calls that we received from well-meaning relatives who continually offered
advice as to where to go for second, third, fourth, etc. opinions. Those who
have been in similar situations know how painful it can be to repeat the same
tragic and frustrating story over and over again.
I built a shell around myself as my way of
dealing with the situation. I have to admit that I had problems dealing with
feeling totally helpless, and I felt I had no one to which I could turn.
Initially, I was satisfied with letting the doctors take care of Rhys, but
Linda and I finally realized when Rhys was five months old, that we did not
know any doctors who knew what they were dealing with or how to treat him.
This did not mean that they were bad doctors; it just meant that Rhys seemed
to have a disease that was beyond the scope of any doctor’s ability to make
a diagnosis. I became very impatient with everyone’s "wait and
see" attitude. More than once, we were told that Rhys would not survive
his first year, so that there was no urgency in trying to figure out what was
going on as it would not change anything. By the way, Rhys will be celebrating
his sixth birthday this June.
Rhys became our experiment in parenting. After
many a sleepless and tearful night, I finally decided to accept him as my son
when he was 5 months old. This was the same time that Linda and I realized the
doctors could not help Rhys, and so I took over the role with Linda of being
Rhys’ doctor. I buried myself in the computer looking for articles dealing
with mitochondrial disease – which is what everyone thought that he had –
to figure out what to expect. I became so absorbed in my new job of
understanding the medical issues surrounding Rhys’ suspected disease, that I
never talked with Linda about my feelings or hers; she, on the other hand, was
completely overwhelmed with the care involved in Rhys’ day to day living.
Our relationship suffered immensely because of our lack of communication. What
made matters worse for the entire family was that neither of us had the time
or energy to be parents to Justin and Ashley. To this day, I still regret the
6 years that I have lost with my other two children. This is time that can
never be recovered.
It was determined that a muscle biopsy was necessary to
diagnose Rhys’ problem. Finally, after four long months of waiting, when he
was eight months old, we got some results back from Rhys’ muscle biopsy. Of
course, this was no easy task. Rhys’ geneticist gave up trying to get
results from the mitochondrial center responsible for analyzing his tissue.
Like many other parents, I began calling on my own in order to get the
results. The doctor said, "We had misplaced your son’s tissue. We found
it a few minutes ago and will now start working on it. I’m sorry for the
inconvenience". Inconvenience
was hardly the appropriate choice of words and did not begin to express
the hell that their incompetence put my family and me through. When they
finally analyzed the tissue, the lab reported that Rhys did not have any signs
of mitochondrial disease.
At this point, I dug myself in deeper in research,
because I had no confidence in the information we were given. I began spending
the little spare time I had trying to find answers. Who should we go to next?
It was a long and winding path to find the appropriate clinic, but eventually,
after many struggles with the insurance company, we went to Dr. Shoffner’s
lab in Atlanta. To my utter amazement, only three weeks after Rhys had his
second biopsy at Emory when he was 14 months old, we were told that he indeed
did have mitochondrial disease and was deficient in both Complex I and Complex
III. After 16 long, vomit-filled months, Rhys had a diagnosis. This
accomplishment gave me the first bit of peace since Rhys was born. In the long
run though, the reality is that no one knows what to expect with regard to
Rhys’ health, nor do they know how to treat him.
Writing this article is my second effort in trying to
break the shell that I have been very successfully building these last six
years. I cried a lot during the first couple of years, and I still do every
once in a while when I take notice of all of the missed opportunities to be a
father. I now know that having an open line of communication with my family is
vital for survival. Only a cooperative, open relationship with the entire
family can help us get through the rough times. Each member of our family has
lasting scars from these past six years, and our physical and psychological
health has deteriorated from the stress. However, my experience with Rhys has
taught me valuable life lessons and has made me a better person, father, and
husband, as well as a more compassionate doctor.
I just have one closing thought. John Donne’s
For Whom the Bell Tolls has a line in it that summarizes Man’s
condition. Written in 1623, it truly is as appropriate today as then:
"… No man is an island, entire of itself; every man is a piece of the
continent, a part of the main…" Now I just have to try to swim across
the Ocean of Life and join the rest of the world.
