Raising
Awareness about Sanfilippo Syndrome, or Mucopolysaccharidosis
Disorder.
As some of you may know, I am the co-founder (with Reia) of
a professional dance company and school called the Phunk Phenomenon
Urban Dance Theater Ensemble/Academy. But what
you don’t know is that Reia Briggs-Connors, my co-founder
of Phunk, is also the heart and soul of the company. Her
work with children and young adults over the past 10+ years
has positively affected the lives of the countless youth and
teens that have danced with the company, studied dance in one
of her classrooms and/or simply had the benefit of knowing
the generosity of her spirit. Reia is a devoted teacher,
mother and is truly one most genuinely kind and giving human
beings I know.
This morning, Reia called me regarding a personal
crisis. Her
2-year-old son, Jared has just been diagnosed with a rare disorder
called Sanfilippo syndrome.
After speaking with her and her
husband, Ricky Connors, they decided that they wanted to raise
awareness about her situation
and this disorder. They also decided that the best course of
action was to be proactive and thus asked me to share the details
regarding their situation with you. The greatest hope
is obviously that one of you may have some useful information
for Reia and Ricky regarding alternative treatments, clinical
trials or that we can possibly locate other parents out there
who may have also dealt with (or may be presently dealing with)
this same disorder. Sanfilippo syndrome, or Mucopolysaccharidosis III
(MPS-III) is a rare genetic disease. This
lysosomal
storage disorders is
due to deficiency in one of the enzymes needed to breakdown
the glycosaminoglycan
heparan sulfate (which is found in the extra-cellular matrix
and on cell surface glycoproteins). Although undegraded
heparan sulfate is the primary stored substrate, glycolipids
such as
gangliosides are also stored despite no genetic defect in the
enzymes associated with their breakdown.
MPS-III has an incidence
of approximately 1.89 per 100, 000 live births.
The disease
manifests in young children. Affected infants are apparently
normal, although some mild facial dysmorphism may
be noticeable. The stiff joints, hirsuitism and coarse
hair typical of other mucopolysaccharidoses are usually not
present until late in the disease. The child often develops
normally initially. Acquisition of speech is often slow
and incomplete. The disease then progresses to increasing
behavioral disturbance including temper tantrums, hyperactivity,
destructiveness, aggressive behavior, pica and
sleep disturbance. As affected children have normal muscle
strength and mobility, the behavioral disturbances are very
difficult to manage. The disordered sleep in particular
presents a significant problem to care providers. In
the final phase of the illness, children become increasingly
immobile and unresponsive, often require wheelchairs, and develop
swallowing difficulties and seizures Death eventually
results from inanition. The life span of an affected
child does not usually extend beyond late teens; and as of
right now there is no treatment available.
There is the website for
the MPS Disorders: www.mpssociety.org
If
you have ANY information for Reia and Ricky, they ask that
you please contact them directly via email at lilphunk2@aol.com.
I
thank you in advance for your time and efforts in helping
and comforting my dear friend.
Sincerely,
Brian White
< BACK
|
