Gaucher Community News - National Gaucher Foundation

Neuronopathic Gaucher Disease
Gaucher disease Types 2 and 3
For those of you who are not familiar with these types of
Gaucher disease, they are extremely rare and sometimes
fatal diseases affecting infants and young children with
the painful physical symptoms of Gaucher disease, as
well as severe and progressive neurological decline.
In an effort to help raise awareness and stimulate
funding for research, the NGF will run articles written by
families affected by Gaucher disease Types 2 and 3. The
following articles are the first in a series of articles that
will appear in the Gaucher Community Newsletter each
quarter.
Fighting for Ethan
by Tina and Darren McKown
Ethan James McKown was born at 33 weeks but we
knew right away he was a fighter. During the first eight
months of his life, we were in and out of the hospital
once a month for various issues. Finally in April 2008, at
10 months old, they admitted Ethan for failure to thrive.
Hundreds of tests were done.
May 5, 2008 our lives changed forever. We met with
Ethan’s genetics doctor and learned that he had Gaucher
disease. We had no idea what we were up against. Since
he presented neurological symptoms so early they were
leaning towards Type 2 but hoped for Type 3. While
in the hospital with pneumonia, we found out he had
a homozygous L444P mutation - Type 3 Gaucher
disease and started him on enzyme replacement therapy
immediately.
A breath-holding spell almost took his life so the
doctors scheduled a sleep study. Because Ethan would
stop breathing in his sleep, the doctors suggested a
tracheostomy tube. The risk of our son dying in his sleep
was too high; we had to do it. The tube was inserted the
following day along with a surgery for his Strabismus, a
condition in which the eyes are not properly aligned with
each other.
Our son was laying in the ICU with a breathing tube in
his throat and blood filled tears. It was heart wrenching.
He tried to call out but couldn’t.
In March of 2009, he had a Gastrostomy feeding
tube inserted and a Nissen fundoplication (a surgical
procedure to treat gastroesophageal reflux disease) was
done.
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Ethan James McKown
In April of 2009, Ethan had more genetic testing. Our worst
fears came true. Ethan was 23 months old and had Type
2 Gaucher disease. We found out that our son would not
live to see his third birthday. We were told that the doctors
would stop his enzyme replacement therapy and asked why
will the doctors not allow us to continue the treatment
Why are they giving up on him
It has been so hard knowing that we won’t ever be able to
hear his laugh again.
Type 1 is not the only Gaucher disease
by Carrie Ostrea, Mom to Hannah 1 1/2 years-old
Although much is known about Gaucher disease Type 1 and
there are treatments, I wanted to share some of the day-to-day
realities we face so that you may have a better understanding
of these two little known types of Gaucher disease; Type 2
and 3.
Our families are being destroyed as it takes our babies
and young children away from us in such a horrific and
devastating way. There is currently no treatment to help
our children and very little funding for research because the
Disease is not well known. We live a life of inevitable feeding
tubes, breathing tubes, chocking spells, seizures, loss of
normal eye movements, and the eventual loss of the smiles of
our children due to the neurodegenerative brain disease from
Gaucher disease Types 2 and 3. As a mother of a child with
Gaucher Type 2 or 3, my hope is to save her life and the lives
of others facing the same journey.
By creating awareness and raising funds for research for a
cure, we hope to save our children. But, we can’t do this
alone. We need your help - to promote awareness, not only
for Gaucher disease Type 1, but for all types. Together, the
Gaucher community is a powerful force and we can help
others who need our united voices. If you are interested in
helping us to raise awareness of Types 2 and 3, please contact
me at ostreafamily@gmail.com.