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Live From Mahwah (Patient Support Forum)

New Jersey
 

Morning Session in Mahwah, NJ

There’s a full room of nearly 30 people at the forum today in Mahwah, including doctors, FIRST staff and affected members ranging in age from 2 to 67. Dr. Leslie Castelo-Soccio kicked off the day with a comprehensive overview of the variety of known mutations of ichthyosis. Her presentation included photos, specific symptoms and features of each mutation.  Additionally she presented promising new treatments that are currently being tested including oral retinoids and pathogenesis based therapy (more details with regards to treatments to be included in follow up article this week).

Dr. Keith Choate presented an intriguing, ”basic genetics 101″, whereby he discussed how our understanding of genetics has developed rapidly in just the past few years. He explained how the change or “mutation” in the genetic code, changes the RNA and ultimately causes a variety of changes in the protein. His presentation included the most common kinds of mutations; Non-sense & Mis-sense mutations, Autosomal Dominant Inheritance and Recessive Inheritance, as well as the possibility of spontaneous mutations and the utility of genetics in medicine. (FIRST will be posting a series of “genetics 101″ articles in upcoming weeks to provide a comprehensive explanation of the origin of genetic mutations).

Why genetic testing is important?  It helps the doctors to prepare for the type of care the child will need right from the beginning.  The types of genetic testing available includes prenatal, carrier testing, preimplantation testing (IVF). There is a new, less invasive way of genetic testing, that involves prenatal blood testing.  If you are currently seeking genetic testing, your dermatologist should be able to refer you to a geneticist. More on DNA Testing: www.genetests.org

On a final note- Tphoto (3)he NIH research funding has been cut by 15% to due sequestration, which may lead to medical researchers leaving the field.  If you would like to get involved in helping to prevent more medical research budget cuts, affected families can call their representative and explain their condition.

Stay tuned for afternoon wrap up…

Afternoon Session:

The members broke out into groups based on age.  Discussions were lively and members were very excited to be able to connect one-on-one. One teenage girl even mentioned, “this is the very first time I met someone with ichthyosis, let alone a teenager!”  Tracie Pretak shared some of Bailey’s experiences with the teens, mentioning that dance not only helped build her self-esteem, but ignited a lifelong passion and in fact, Bailey would like to be a professional performer.

One young artist at the meeting also mentioned using photography “as a way of projecting my voice.”

The adults spent an entire hour sharing product tips including some new names like First Aid Beauty Ultra Repair Cream (you can order online); Lush Ro’argen skin conditioner. (complete list from the discussion will be available this week)

Also one member mentioned that after applying cream in the morning they apply 3 more times on the most affected areas, in 20 minutes increments over the next hour before leaving for work and it seems to be effective all day long.

We officially wrapped up at 4:15!  Stay tuned for more info from the Mahwah forum this week…

 

 


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