Making Connections
We're bringing the benefits of genetic research to those who need it the most. |
RARE GENOMICS NEWSLETTER
September 2023
Stay updated on the latest services, collaborations, and opportunities we have. At the same time, we'll share ways you can help us advocate for the needs of rare disease families. With your input and support, we can find new ways to do more! |
Rare Genomics Questionnaire |
He Suffered from a Rare Cancer Before
the Age of Two. What was wrong? |
Before the age of two, Viktor Pataki’s parents discovered there was something wrong with their son. His young life was just beginning and they were desperate for answers.
Doctors discovered that Viktor had a rare cancer called Langerhans Cell Histiocytosis (LCH). The rare disease typically affects children but can also be found in adults. LCH forms when the body makes too many immature Langerhans cells in the immune system. Normally Langerhans calls, also called histiocytes, help to protect the body from infections.
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The Crucial Role of Physical Therapists
in Pediatric Muscular Disorders |
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Recent breakthroughs in treating neuromuscular diseases mean that it may now be possible to slow disease progression and prevent loss of muscle function. In many cases, once muscle function is lost it cannot be recovered. This is why early diagnosis and treatment are crucial.
Unfortunately, for children with undiagnosed rare diseases and their families, getting a diagnosis and finding a plan for treatment are difficult steps in a process that can be long and arduous, with patients being referred to a seemingly endless succession of healthcare professionals. Because neuromuscular diseases affect movement, the physiotherapist is often one of the first referrals. Physiotherapists see the world in terms of muscle function, so they are uniquely qualified to recognize signs and symptoms of neuromuscular disorders. As such they can help to course-correct the diagnostic journey for patients. While they cannot actually make a diagnosis, they can facilitate a timely diagnosis when they communicate their assessments, especially observations of any red flags, to referring pediatricians, who can then make informed referrals to pediatric neurologists. |
RG’s dedicated and talented volunteers deliver remarkable results for families in need of genetic sequencing services. We come from diverse backgrounds but work as a team to help people directly. We love what we do and we’re always looking for professional teammates. To learn a bit more about who we are and why we volunteer, watch the video above. |
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