Christine's Story
We (Eileen & Gene
)
are the grandparents of a sweet little girl who was diagnosed with a peroxisomal
disorder, neonatal
adrenoleukodystrophy in 1999.
My daughter,
Dolores, gave birth to her second child, Christine, February 9.1998. It
was a normal pregnancy and normal delivery in every way. As she started to
develop, her motor skills did not progress. Christine couldn't hold up her
head or grasp objects at all. Her development was delayed.
It took almost one and a half years before doctors would be able to name her
disability.
Among the peroxisomal disorders are Zellweger syndrome (ZWSI), Neonatal
adrenoleukodystrophy (NALD), and Infantile Refsum Disease (IRD). They have so
many features in common that they are considered a single disease marked only by
the severity. The prognosis for Christine was Infantile Refsum Disease. Both parents carry the
gene that causes this disease. They have a one in four chance of
having another child with the disease. Their older child, Kimberly may be a
carrier. She will have to undergo testing when she is older. Kimberly
shows no signs of the disease. The life
expectancy for Christine is 10-12
years.
August 1998
Christine receives therapy three
times a week to help with her muscle development. She still can not hold
up her head or sit un-aided. Christine also suffers from seizures on a
daily basis. The medication helps to control them to a certain degree, but
does not stop them entirely. She has had hearing and
vision tests with no conclusion whether or not she can see or hear. She has
been hospitalized numerous times for pneumonia. After each visit, she
looses what ever muscle control she has gained from her therapy.
May ,2000, Christine was hospitalized again with pneumonia. The doctors discovered that she aspirates her food and saliva thus causing the pneumonia. She underwent surgery to insert a feeding tube in her tummy. Her esophagus was also closed off almost entirely to prevent her from aspirating her saliva.
Since she has come home
from the hospital, an aide
comes three times a week to help with bathing. Christine also gets therapy from
Early Intervention.
November 2000 was another
crisis in Christine's life. She was rushed to the hospital again.
After spending a few days in the hospital, she was sent home with oxygen.
The oxygen helps with her breathing, because her muscles age getting weaker. She
also suffers from edema. She is now under the care of Hospice.
UPDATE:
Christine
celebrated her 3rd birthday on February
9th. Both Maternal and Paternal
grandparents, Aunts and Uncles, and cousins by the dozens came to celebrate this
milestone in her life. We pray that she will be here to celebrate her 4th
birthday next year. God Willing!
MARCH 15, 2001 -
Christine has lost her fight
with this terrible disorder. She has
gone home to Jesus. Our faith tells us she is happy and whole. We
must believe in this. We are all so sad to loose this beautiful child.
Kimberly misses her little sister so much. She
knows she
is now with Jesus and is not sick anymore but wishes she was home with her.
Christine has left an empty void in our family. We all miss her terribly.
If you would
like more information on peroxisomal disorders, please click on link below.
United Leukodystrophy Foundation
Exceptional Parent.com - online magazine for informations
