Yesterday we had our regular appointments at the Mayo Clinic, as well as one not so routine visit with a counselor from the Center for Individualized Medicine to discuss genome sequencing for Owen. Genome sequencing is the cutting edge of genetic testing and for now it's availability is very limited to the general populations, with the exceptions of attempting to diagnose very rare genetic disorders or discovering new ways to treat cancers. More info on genome testing:
http://mayoresearch.mayo.edu/center-for-individualized-medicine/clinomics-program.asp Now, that being said- anyone could have their genome sequenced; however the cost is not yet covered by the majority of insurance companies without sufficient proof of medical necessity.
This type of testing comes with the burden of knowing. Our counselor indicated that they will be examining approximately 28,000 pieces of Owen's DNA. Through this examination the researches will be able to read the story of Owen's body. This story is not a story of his life, but a story of his body. This story can be used as a field guide to his future healthcare needs. Our hope is that somewhere in the 28,000 bits of information that the researches will extract evidence of the mutation/deletion/inclusion that has disrupted his genetic code to cause his healthcare challenges- ultimately leading to a clearer diagnosis. A diagnosis will not likely change the 'now' for him, but will help us moving forward in planning for his future needs. It will also aid us securing proper insurance reimbursement- as ongoing reimbursement for a collection of symptoms is a slippery slope in the insurance world without a 'diagnosis' to tie them to. In the eyes of insurance it's similar to treating cancer without saying the patient has cancer- even when all clinical signs and symptoms are present.
Along with the possibility of finding out 'what is wrong' with Owen, we will very likely be able to also diagnose Ashton by giving the researches a very specific place to look for the quirk in genetic material. We know the boys share the same 'quirk', Owen is just expressing more symptoms than Ashton.
The downfall of this type of testing is knowing. Through genome sequencing we will learn as much about Owen's body as science in 2013 allows. We will learn if he has specific genes characteristics that are tied to the worlds most documented diseases and medical disorders- even though he may not show signs/symptoms of them right now. There are established markers for Downs, cystic fibrosis, fibromyalgia, many cancers, Parkinson's, and hundreds more. For example-
[this is an example only] we may find out that he carries a gene that in 90% of cases has been identified with pancreatic cancer. This does not mean Owen has pancreatic cancer or that he'll get it- it does however mean, that he is 90% of people with pancreatic cancer also carry the same genetic quirk and he is therefore at a much greater risk for that particular cancer than the rest of the general population. This is the testing that influenced celebrity Angelina Jolie to undergo a double mastectomy prior to the onset of breast cancer symptoms. Genome sequencing can be used as a field guide for his lifestyle choices into the future as well as future healthcare management. There are hundreds of identified gene markers for the most common diseases/disorders- we may find out information that is worrisome and difficult to digest.
The technology also enables us the power of knowing what medications Owen may respond better to in a treatment/preventative healthcare scenario. It has been proven through genome sequencing that due to specific lines in genetic coding that some cancer patients will respond better to medication A versus medication B- saving precious treatment time and possible wasted insurance dollars.
[sorry for the cancer references- it's the most generally understood disease for most people.. almost everybody knows somebody who has had cancer. It is also the most researched genome mapping area due to the billions of dollars poured into cancer research every year.] Both Shelby and I also gave our blood samples yesterday- if a specific gene marker is identified the researchers will then double back using our blood work and be able to 'trace' the lineage of this genetic quirk. We too are not exempt from finding out unsavory information regarding our future health risks. Through tracing the lineage we will then be able to establish the pathways of heredity transfer of the genetic disorder to Owen's siblings and their future families. 'If' Owen carries a disease gene like cancer.. he got it from somewhere- one or both of his parents.
For Shelby and I
(who have been relatively healthy for the last 30+ years) it's pretty intimidating to potentially have a look into the crystal ball and face some of those risks and eventualities that the next 50+ years could hold for ourselves. It's one thing to know the risks of a loved one, but when it's your own future... when you
need to live forever for your children... when they need you... when they count on you... the test takes a whole new unappealing turn. There are some opt outs that we could have signed, but we decided as a family we are all in. With the knowledge there is power to change, there is power to prevent.
It's a lot to take in- we have been researching, reading, and discussing this opportunity for nearly six months and only now have gotten to a place where we are comfortable moving forward. For us it is the possibility of an end. This testing has the possibility to end the world of medical wonder we live in- it also may not. It's a gamble. We may not find out anything related to our boys conditions, because like results we have received up to this point- our boys are truly unique in our world. There may not be any genetic markers identified for their shared medical condition, because there is truly nobody like them. We have signed the necessary paperwork for prior insurance authorization and with the green light we should have results in about six months. We have also signed paperwork that will open Owen's genome sequenced code to medical researchers. If we can move science forward in a way that will benefit our boys future- we're on board.
Our second appointment was with our regular endocrinologist. We have decided to put an end to the months of speculation and wonder to the possibility that Ashton's pituitary is losing function to control his adrenal glands. Over the last year Ashton's pituitary hormone panel has been up and down. We need to be sure- with certainty- that we are doing what we can to make sure his body is working for him. We have agreed to a stimulation test. The test, by injection of chemical, will safely stress his body in a way that stimulates the pituitary to release hormones that tell his adrenals to kick it up a notch. Over the course of an hour they will draw his blood several times to better understand how his body is reacting to stress- simulating the onset of a cold, overexertion and fatigue that you might experience on a daily basis. When your body is exposed to these kind of stressors your pituitary releases hormones so you can keep going throughout your day without disruption- from our daily observations and blood work monitoring we fear that Ashton's pituitary is not performing this function properly day to day. The results of this test will give us a clear picture of his bodies abilities and in turn give us the understanding we need to help him the best we can.
The two tests that we are moving forward with as a result of yesterdays appointments are ends. They are ways for us to continue our journey by closing doors that have been left to blow in the breeze. We sincerely appreciate all of your support, prayers, and unimaginable love you have extended our family throughout our extraordinary journey. It is through faith in our path and for our god, love from our family and friends, and lots of hope for the future that we move forward and make the tough decisions.
Love & Hugs, Sarah & Shelby
