Have you ever had an instinct? An instinct that begins as a gnawing...Then grows into a raging burn; a burning instinct that something is wrong...
Your baby continues to get sick from the very foods he is supposed to thrive on. I did. I am a mom of a little boy just diagnosed with FPIES.
And that burning feeling now? Extinguished. My instincts? Stronger than ever. Guiding me, with my faith, as we navigate through the murky waters of our new world created by something called FPIES.
"Faith is not about everything turning out OK; Faith is about being OK no matter how things turn out."
Monday, February 27, 2012
From Rare Disease Day website:
"A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
• 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
• 50% of rare diseases touch children.
Characteristics of rare diseases
The 6000 to 8000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Common problems faced
The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
How can things change?
Although rare disease patients and their families face many challenges, enormous progress is being made every day.
The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.
However, the road ahead is long with much progress to be made.
The FPIES Foundation is participating in Rare Disease Day all week!