Rare Disease Report

Medical Equipment, Rare Diseases, and Rainbows

JULY 19, 2016
RDR Staff
The fifth annual Rainbows in the Wind Festival hosted by the Little Miss Hannah Foundation in Las Vegas is this weekend. Last year, the festival’s turnout was over 1,200 people and the foundation was able to raise over $20,000. 
 
As the event grows, the Little Miss Hannah Foundation’s mission remains the same; to help enhance the quality of life for young children that are diagnosed with rare diseases, undiagnosed complex medical needs, and children who have been placed in hospice or palliative care in Southern Nevada. The fundraising event is a family orientated fun-filled evening of music, activities, dancing, and raffles, that raises money to help support Las Vegas families of children diagnosed with rare, life-limiting, and complex medical conditions in need of assistance.
 
Catch The Rainbows in the Wind Festival:
Date:   Saturday, July 23, 2016, 5:30 pm to 9:00 pm
Location: Town Square Center Park, Town Square Las Vegas
 
For donation, partnership, sponsorship, or participation inquiries, click here.

Little Miss Hannah Foundation 

The Little Miss Hannah foundation that organizes the Rainbows in the Wind Festival is a family-run nonprofit organization started in 2011 of memory of Hannah Ostrea, who was diagnosed with Gaucher type 2 or 3 and passed at the age of 3. The nonprofit is focused on helping other rare and medically affected families in a multitude of ways with a large focus on assisting families with obtaining the proper medical equipment needed to lead a productive life.  
 
Providing better medical equipment or even more accessible medical equipment could help lead to extending a rare disease patient’s life, or increase the quality of their lives. Many rare disease patients are limited to what their disease allows them to do, which in most cases, isn’t much. To help meet a patient’s medical needs of better equipment, treatment, or knowledge, could lead them to live a normal life and help extend their lives.
 
The foundation offers grants and programs to assist families in need such as:
  •  Medical and Therapy Equipment Grant Program - provides grants and other financial support to offset costs of medical and therapy equipment and related costs to enhance the quality of life of medically fragile and special-needs children and their families throughout Southern Nevada.
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  • Rare and Undiagnosed Disease Support - Support and help to find the resources families need to help manage their child’s care.  This could be in the form of seeking out financial assistance (federal, local, or grant), research assistance (learning more about the disease process, future treatment possibilities, or researchers to contact), support groups (local workshops and groups, national/state foundations, etc.).
 
Little Miss Hannah Foundation is partnered with Global Genes – Allies in Rare Disease, one of the leading rare and genetic disease patient advocacy organizations in the world, to bring awareness and promote legislation to find treatments for the thousands of rare diseases that affect children. 

Gaucher Disease

Gaucher disease is a rare inherited disorder caused by a deficiency in a particular enzyme. The genetic condition is caused by the inability to make an enzyme, glucocerebrosidase, which breaks down fatty substances in the body. This leads to build up of these substances in many tissues of the body, including the bones, organs, and bone marrow. These substances then prevent cells and organs from working properly.
 
Gaucher disease can be categorized in three different types:
  • Type 1 (most common) - involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia), affects both children and adults. This type is also called non-neuronopathic Gaucher disease, because the brain and spinal cord are usually not affected
  • Type 2 (severe and life threatening) - known as neuronopathic and begins in infancy with severe neurologic involvement, hypertonia, mental retardation, and apnea. This form can lead to rapid, early death. Most infants will not live past two-years-old. 
  •  Type 3 - may cause liver, spleen, and brain problems, muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia, osteoporosis, yellowish-brown skin pigmentation (People with this type may live into adulthood as symptoms usually show up later in childhood)
 
Gaucher is an autosomal recessive disease. The mother and father must both pass 1 abnormal copy of the disease gene to their child in order for the child to develop the disease.
 
Currently, numerous enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) are available to Gaucher disease and they are only effective in Gaucher type 1 patients

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