Parental Experience: Diagnostic Dilemma with congenital CMV
Sandra Schiffli-Salerno
Department of Pediatrics Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas
INTRODUCTION
[PICTURES]
Recent photos of
Lillian!
This is the story of our brave
daughter Lillian Grace Salerno
and the long and difficult path
we took to eventually learning
that she was born with a
Congenital CMV infection.
BACKGROUND
Lillian Grace was born on
1 2 . 2 8 . 2 0 11 w i t h n o s i g n s o r
s ym p t o m s o f p r o b l e m s . S h e
passed all of her newborn
screens. Around six months of
age she had microcephaly and
was not meeting her
developmental milestones so we
consulted with a neurologist.
Shortly after she was diagnosed
w i t h p o l ym i c r o g y r i a , i n t r a c t a b l e
e p i l e p s y, c e r e b r a l p a l s y, a n d
hearing loss ….all which
eventually led us to a diagnosis
o f C M V.
PROBLEMS / OBSTACLES
While pregnant I went to the doctor
numerous times with a respiratory
i n f e c t i o n , f e v e r, w e i g h t l o s s , a n d
general fatigue. I was told I had
bronchitis, no one ever suggested
that I might have a CMV infection.
Lack of education and awareness
regarding CMV was my first
obstacle.
The second obstacle I faced was
the heart wrenching discovery of
the many challenges my daughter
faced ONE BY ONE…from the brain
malformation, seizures, hearing
loss, cerebral palsy …and not
k n o w i n g W H AT h a d c a u s e d i t .
RESULTS / DISCUSSION
METHODS
METHODS
After learning our daughter had microcephaly and failed to meet
h e r m i l e s t o n e s b y s i x m o n t h s w e w e r e r e f e r r e d t o n e u r o l o g y.
She had a brain MRI at eight months and we learned that the
r i g h t s i d e o f h e r b r a i n d i d n o t f o r m p r o p e r l y, a n d s h e h a d a
m a l f o r m a t i o n c a l l e d p o l ym i c r o g y r i a . T h i s d i s c o v e r y p r o m p t e d a
borage of genetic tests which revealed no anomalies.
During this time I also learned that my daughter had a profound
h e a r i n g l o s s i n h e r l e f t e a r. We a l s o n o t i c e d l i t t l e j e r k i n g
movements that were diagnosed as seizures. I was so worried
a b o u t W H AT c o u l d h a v e p o s s i b l y c a u s e d t h i s a n d a l s o – w a s t h i s
a progressive disorder that would slowly take the life away from
my daughter?
After conducting my own research online I read about the
c o n n e c t i o n b e t w e e n P o l ym i c r o g y r i a a n d C M V. I h a d L i l l i a n
tested around 10 months of age and she tested positive for a
prior CMV infection.
This however could not confirm that our daughter had a
c o n g e n i t a l C M V i n f e c t i o n . Wo r k i n g w i t h D r. D e m m l e r I c a l l e d t h e
s t a t e o f T X w h e r e L i l l i a n ’s n e w b o r n b l o o d s p o t h a d b e e n s t o r e d
and could be sent to the centers for disease control for further
testing.
The newborn bloodspot tested positive for CMV at the CDC lab
a r o u n d t h e t i m e L i l l i a n w a s o n e . F i n a l l y w e h a d o u r a n s w e r, b u t
a t t h a t t i m e s h e a l r e a d y h a d a p r o f o u n d h e a r i n g l o s s i n o n e e a r,
even though she passed her newborn screen. Fortunately we
had an answer but unfortunately it was a very stressful and
p a i n s t a k i n g ye a r o f s e a r c h i n g , w h i l e o u r d a u g h t e r w a s m i s s i n g a
v a l u a b l e t r e a t m e n t w i n d o w.
Although Lillian thrives today she
has many permanent long term
i m p a i r m e n t s d u e t o C M V. S h e
receives multiple therapy sessions
( 8 ) a n d D r. v i s i t s ( 1 - 2 ) p e r w e e k .
A l s o , d u e t o L i l l i a n ’s i n t r a c t a b l e
epilepsy she underwent a radical
brain operation called a
hemispherectomy in August 2013.
I can’t help but wonder how much
of this could have been avoided
h a d w e b e e n e d u c a t e d a b o u t C M V,
been tested for it during
p r e g n a n c y, r e c e i v e d t r e a t m e n t i n
utero, or even had we tested her
for it at birth.
CONCLUSION
In the future, newborn
screening for congenital
CMV would
avoid the diagnostic
dilemmas my family has
faced as well as
the uncertainty and delay in
diagnosis and treatment!!
ACKNOWLEDGEMENTS
I w o u l d l i k e t o t h a n k D r. D e m m l e r Harrison and her expert team at
Te x a s C h i l d r e n ’s h o s p i t a l f o r t h e
wonderful care and love my
daughter has received.