Is there hope?
Treatments are available for some metabolic diseases but the best treatment is early detection before damage occurs.
On a day to day basis, treatment may mean a reduction of certain food types in the diet or large doses of certain vitamins that may prevent symptoms worsening.
But there is no cure for metabolic disease and available drug treatments for metabolic diseases are almost prohibitively expensive due to the rarity of the conditions.
In New Zealand, this can mean that while there is a treatment available, it is not provided here as the cost is too high for the government to fund.
The effects of a lack of treatment sees the impact of the disease increase with time. For a child, they cannot attend school due to fatigue. A wife may lose all social interaction with her peers. A father may lose all independence. Then they are forced to rely on their parents, or husband or partner or caregiver to help them walk, feed, even help to go to the toilet and shower. "Normal" activities cease to exist.
We've All Got This!!!
Every last one of us carries mutations in our genetic make up which may cause a disease in a new baby. It is no ones fault. It is beyond anyone's control when a child is born with a metabolic condition. The next person diagnosed could be someone you love. So if your nephew, or best friend's baby was given a metabolic diagnosis - what would you do?
Please help us help them.
What have we done so far?
Link to Give-A-Little
http://givealittle.co.nz/org/easethesqueeze to donate
Ease The Squeeze Charitable Trust