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Ella was born September 1, 2010 to a
family that absolutely adores her. She
has two amazing older brothers Nathan
and Matthew that love
her to pieces and make her laugh and smile on a
regular basis. Her parents cherish her and she
is so lucky to have the best extended family
that anyone could ever ask for.
When Ella was born, she had no significant
complications. However, in the hospital
the doctors noticed some anomalies that
individually were not a major concern,
but the fact that there were several led
them to suggest genetic testing.
Initially nothing was
identified, but after her first few months and
some additional blood tests to look further into
her chromosomes and genes, it was confirmed that
she has a very rare genetic syndrome called Pitt
Hopkins Syndrome (PTHS). She was now four months
old and diagnosed with something that we have
never heard of and something that the doctors
did not even know much about. Information
was limited as this syndrome is very rare and
has only recently been diagnosed through
specific genetic testing.
Since that time, Ella has
been enrolled in Early Intervention and
has been working with a Physical
Therapist, Occupational Therapist,
Special Education Teacher, Speech
Pathologist and a number of other
specialists on a regular basis. She is
now 3 years old and has "graduated" from
the Early Intervention program.
She now attends Mary Cariola Children's
Center and goes daily to her new
pre-school program. And she loves
She is a happy little girl who has a loving and
supportive family. We continue to work with Ella
As everyday passes, Ella is learning new skills
and getting stronger in all areas.
We are so thankful to our teachers, therapists, family, and
friends for their unyielding support!
Web site designed by Brian, Michele,
Nate, Matt, and Ella Schilling - 2012