A Real Life Miracle
This is a personal story shared by a family whose child has Biotinidase
Deficiency (BD).
Whoever
said your darkest and most difficult times can be a place of opportunities and
spiritual growth certainly walked in our shoes. We never expected when William
was 19 months old that medical professionals would be talking to my husband Greg
and me about "Quality of Life Issues" for our son.
Up until 18 months old he was a typical healthy child.
Little did we know that he would soon loose the ability to walk, talk and
had feeding problems all due to an undiagnosed metabolic disorder.
We later learned this was unnecessary and could have been prevented if
the State of Georgia required a test for this disorder in the Newborn Screening
law.
At
18 months old we started noticing that William's friends were getting more
coordinated and agile. We
attributed this to his regular ear infections effecting his balance.
When we shared this concern with friends and family, almost all had a
story of William's balance problems.
Then we noticed his regular labored breathing.
Initially, we thought this to an active toddler trying to catch his
breath. Certainly we were out of breath when chasing him through the
house!
Within
a week, two things happened. My
neighbor, who watched William a few days a week for us, told me about the
problems she was seeing in William, but we were in total denial and focused on
the rat race of everyday life. Tammy
began videotaping William during his worst times. Tammy and her husband showed me the videotape in a quiet
setting; their approach forced me to realize that there was a real problem with
our son. The second thing happened
when my sister and her son came from out of town to visit. We walked in the house from the airport to find Greg and
William both sedentary; however, William was breathing at alarming rate.
It took seeing William through someone else's eyes to realize there was
something very wrong.
William
was taken from his Doctor's office in an ambulance to the hospital.
This began six months of hell for us.
We now know this was the beginning of the clinical signs of untreated
biotinidase deficiency. His case baffled the dedicated medical professionals
and they continued to research and discuss his case with their peers.
It was this group of dedicated Doctors going the extra mile that saved
our son's life.
His
condition progressed to the point of having periodic tremors.
During one memorable emergency room visit while he was having tremors,
William had lost all muscle control and was uncontrollably shaking.
We sat in the emergency room for hours as various Doctors and Nurses came
in to check him or draw blood for testing.
All the while William was uncontrollably shaking.
My husband and I could barely speak to each other as our minds ran wild
about what was wrong with our son. It
was a horror we never expected to experience.
A Neurologist explained to us some possibilities of what was going on but
he wanted to run some tests (including a spinal tap). Ultimately it was the Doctors constant search and consulting
with other medical professionals that lead to an accurate diagnosis and
treatment for our son's condition. Finally
at 3:00 in the morning William was given a sedative to help relax him.
His tremors stopped as he slept. They
observed him for several days then discharged him not knowing the cause of the
tremors but they had ruled out a lot of things it could be.
Several
weeks passed. We were at home
playing after dinner when William's speech began to waiver again, then the
familiar onset of the full body tremors. I
called the Neurologist who told us there was nothing they could do and that
taking our son to the hospital would be unproductive since there was nothing
they could do. I was assured that
the doctors in the Neurology group were all aware of William's condition and
that they were searching for a diagnosis and possible treatment.
We put William to bed, but I stayed up the entire night listening to his
little body uncontrollably tremor until 5:00 in the morning when he peacefully
slept.
Between
hospitalizations we resumed our rat race lives with William staying with our
neighbor when my husband and I were working though we always had our bags packed
and ready to go to the hospital at a moments notice.
In the mornings I would leave for work extremely early hoping I could get
some work done before I got the call. In
December I received the call at work from my husband that stopped my heart.
William woke up this morning and he could no longer walk.
Everything was quiet on the phone. We
both were so scared. William was
taken to the hospital where they gave him his second spinal tap a MRI, an EEG
and many blood tests and they began another regime of high doses of steroids. We were now becoming regulars on the Neurology floor at the
Children's Hospital and we had made some great friends with the hospital
staff. Now added to the group of
Specialists seeing our son was an Infectious Disease Specialist.
The Doctors were well on their way of ruling out some of the more obvious
possibilities. It was on this visit
that we learned that William may have a mitochondrial disease and the diagnosed
for this disease is done through a muscle biopsy.
By
this time Christmas was quickly approaching and we were still in the hospital.
There was little staff in the hospital and even fewer patients.
We were devastated to learn what a challenging life could lie ahead for
our son. Thank God for the
supportive family members that spent Christmas with us in the hospital.
We all tried to remain positive throughout the hospital stay.
All the while William continued to have an alarming rate of breathing and
he had an IV in his foot so we did not know if he could walk or not. We all
began to notice that he was now having trouble sitting up.
It was finally hitting home to all of the family.
He has a neurodegenerative disease that is essentially untreatable.
After
returning home from the hospital, my husband Greg and I did not notice any
significant difference in our son's breathing rate but we were thankful that
William was now under the care of a Pulmonologist. We learned that during each hospital stay the Doctors were
releasing William because he was stable not because they understood and could
treat his problems.
We
were sent home a few days after Christmas with no diagnosis and William's
condition was rapidly deteriorating. Within
a few weeks of leaving the hospital he could no longer sit up.
He was awake for no more than two hours a day and when he was awake he
required special seating that prevented him from "flopping forward".
These were the most difficult days of all.
We waited and prayed, researched, called everyone we knew that could help
us and we screamed a lot. We began
researching the possibility of placing William in a Clinical Drug Study.
My hope was that we could stabilize his condition giving medical science
time to catch up, in hopes that there would one day be a treatment for his
condition. We helplessly watched
our son's condition deteriorate as he was hospitalized off and on after
Christmas.
My
husband and I had to significantly change our lives to deal with having a child
with special needs. We altered our
work schedules so that a parent would be available at any time to take him to a
doctor, therapist, or for tests. Both
of our employers were exceptionally accommodating to our situation.
We were often called on a weekly basis and told to go to the hospital lab
for this test. We became
apathetic about the entire situation as if we were numb and we stopped
asking..why do you need that test...what are you looking for, etc.
Then the MIRACLE HAPPENED.we received a call from William's Neurologist a few weeks after William's 2nd Birthday. He told us that one of the blood tests he ordered for our son showed he has a rare condition called Biotinidase Deficiency and it is treatable and curable. It was an out of body experience when I heard the Neurologist excitedly saying through the phone "..you've got your boy back." At this point this was more than we had ever dreamed of for our son and it brought Greg and I to tears. Within days of taking the vitamin Biotin we saw significant improvement in William's cognitive abilities; it was as if the fog was being lifted. We also saw his physical ability begin to come back. It has been a few months since William has been taking large doses of the vitamin and he is walking and talking. His four therapists he sees for one hour every week tell us he is now approximately 6 months developmentally delayed and they expect him to learn quickly because he is so social (teachable).
The love and support we received from all over the community was overwhelming and often brought my husband and I to tears. It was the help that we received that kept us going every day to deal with the many challenges. Some of the many sources of help we received include the medical community, family, friends, neighbors, churches, co-workers, social workers, therapists, doctors, insurance company employees, Babies Can't Wait and FOCUS.
This experience taught our family endless life long lessons and our son has a wonderful story to hear the rest of his life. We no longer live the stressed out high paced lives in the working world that we used to and we have learned to cherish the little things.
Sincerely,
Laurie Farmer
Written January 2001 by
Laurie Farmer
Mother of William, biotinidase deficiency
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