Thursday, February 28, 2013
Rare Disease Day 2013
Here is a video that I made of the miracle children of Texas and what they dream about
Rare diseases (also called orphan diseases) affect approximately fewer than 100,000 children in the United States, and there are about 7,000 known rare diseases that have been identified. It is estimated that about 80% of rare diseases are genetic, and that 95% of rare diseases do not have a single FDA approved drug treatment. Many rare diseases Like Mighty Z's are too rare for research. What does this mean? It simply means that since rare diseases affect relatively small numbers of people, companies are not always able to recover the expense of making the drug without government assistance. So, Mighty Z who has a rare diseases are left with just treating the symptoms. As a mother of a child with a rare disease all I can do is wait and pray that someone will come along and be inspired to help find a cure Mighty Z's disease.
Mighty Z's disease is genetic her PHOX 2B gene has repeated (that basically means that she has too many of that PHOX2B gene).
The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, which controls body functions such as breathing, blood pressure, heart rate, and digestion. Neural crest cells also give rise to many tissues in the face and skull, and other tissue and cell type.
So what does this mean? It means that Mighty Z has to many neurons buzzing around that sometimes doesn't know where to go or what to do sometimes they carry out their function and sometimes they do not.
It also means that Mighty Z's disease (even though she is on a ventilator) is not a lung disease, but a neurological disorder and it affects every aspect of Mighty Z from breathing to her bowels there is very little of her body that is not affected by CCHS (congenital central hypoventilation syndrome)
My favorite quote is from the Rare Disease Day Foundation: “Together we can make a difference . Alone we are rare. Together we are strong." I will tell you that all of your support during this journey has made me stronger just knowing that I am not the only one praying for my Mighty Z.