It turns out that it is not so easy to get tested for this rare (1:15,000 to 1:22,500) disease, and in fact there is no currently accepted method of testing that yields a conclusive result. Rather there are a battery of tests that are being researched to yield a diagnosis, and also a host of possible genetic links that are being looked at as possible inheritable markers for the disease.
What is PCD? Well the cilia are the little hair-like structures that are supposed to beat in a rythmic pattern of from 20-60 times per second or so and in concert with each other (think of "the wave" performed at a sport event in the stands). These cilia line the walls of the sinuses and the respiratory tract, and are also found in the fallopian tubes (women) and sperm (men), inside the kidneys and even a few in the brain stem that have the task of regulating the cerebrospinal fluid pressure in the brain, as well as filtering germs out. PCD is considered a mucosal clearance disorder, because the cilia are responsible for moving mucous, and the foreign substances in it, out of the sinuses/lungs. If one has a disorder in which the cilia either do not beat at all, beat in an uncoordinated rhythm, or are in any way structurally deficient, then mucous and germs build up in the nooks and crannies of the body that the immune system cannot effectively target. This makes the victims of PCD germ factories that are very susceptible to respiratory viruses as well as other diseases that are normally not a problem for unaffected individuals. It is considered a less serious, but similar in progression and treatment to Cystic Fibrosis (which Maya was extensively tested for and does not have).
So we will be heading in a few weeks down to a respected research facility in a University town in a state that extends from the Smoky Mountains to the barrier islands commonly known as the Outer Banks. Maya will be involved in the research of actually finding a combination of testing methods that yield an accurate result, and if positive may be elected to take part in a separate lifetime study of PCD patients and treatments. There will be lots of genetic study involved to track down responsible genetic markers, so family members - be prepared to shed some blood for science please!
Maya is happy otherwise and she and Brianna just returned from a wonderful 5-day trip to visit Grandpa Gorski's house in Indiana. They had a great time playing with Heather and Jared, tending to the chickens and playing with the dogs and cats as well. They also spent lots of time outdoors enjoying the large yard with lots to explore.
