Friday, April 20, 2012

It's All In The DNA

Today I took Peyton to the Geneticist at the Medical University of South Carolina {MUSC}.  She has been seeing a Geneticist since she was only a few days old.  We started out with the amazing genetics clinic at Baylor College of Medicine which is at Texas Children's Hospital in Houston, TX.  When we moved to Charleston, SC in 2008 we switched to the genetics clinic at MUSC.  In her almost six years of life, we are still at a loss as to what her diagnosis is.  It has been painfully frustrating at times.  Today is one of those days.

If you've been following along for a while, you may know some of Peyton's story.  If not, here's a quick update.  {For the full version, you can visit her CaringBridge page.}

* an ultrasound at 36 weeks showed the space between the back of her brain and her skull to be a little larger than normal, so they decided to do an ultrasound on her head after she was born {they weren't too concerned at this point};
* Peyton was born 5/15/06 at 37 weeks gestation {I was a high-risk pregnancy}
* the birth process was normal and Peyton seemed normal immediately after she was born;
* the following morning the nursery pediatrician couldn't get her to open her eyes at all - an Ophthalmologist was called in - Peyton was diagnosed as having cataracts;
* she has micropthalmia, which means that her eyes are a bit smaller than normal;
* that same day, we received news that she had hip displaysia {"dislocatable" hips}, a heart murmur, and the ultrasound on her head revealed there was indeed a larger space than normal {an MRI and CT scan were ordered};
* scans revealed she had a "partial agenesis of the vermis" - a part at the back of her brain never developed; it is the area associated with motor control
* prior to being discharged at 8 days of age, she failed her hearing screen...twice.

Source: via Sarah on Pinterest

We went home with a list of specialists and appointments, the most urgent of which was the scheduling of cataract surgery at two weeks of age.  Each eye was done in its own surgery, just a few days apart.  

{As a fun little side note, the day of her second surgery, I wasn't feeling great.  I debated in my mind what to do but as we got to that point in our journey from the parking garage to the elevator to go up to peds surgery, I looked at Ron and told him I was going to the ER.  So, to do that on the day when my 2 week old child is having surgery, it had to be pretty significant.  I had a massive pulmonary embolism with a saddle -  gigantic bloods spanning from one lung and across into the other - the likes of which the chief doc in the ER at a major trauma center in the world-renowned Houston medical center had never seen.  I was 33 and this was not my first near-death experience.  Fun times!!}

After that surgery, Peyton continued to see several specialists on an ongoing basis.  We learned some more about her:

* further hearing testing revealed moderate hearing loss in both ears {it is now severe to profound};
* glaucoma requiring multiple surgeries to finally get under control;
* we became familiar with the term "Dandy Walker Malformation" as a description for some of her brain malformations;
* she developed severe central sleep apnea, meaning her brain forgets to tell her to breath quite often while she is sleeping;
* she developed hydrocephalus and required placement of a shunt;
* the original heart murmur cleared up in the first week of her life but in the last year or so it has come back and it is fairly significant;
* she has a mitral valve prolapse;
* she still has hip displaysia, but she has never developed any muscle tone, so most of her joints dislocate on a regular basis {basically they are out of place more than they are in place nowadays};
* continuous respiratory infections and bouts with pneumonia means she has chronic pulmonary disease.

The list goes on.

Her whole life, we have worked closely with genetics in two major children's hospitals and everyone is still completely stumped.  Baylor performed a test which, at the time, should have picked up anything.  It didn't.  More "specific" tests led nowhere.  Essentially, what we have is a child who has some sort of genetic disorder, but who is a complete mystery to the medical community.  We have been told that she likely has something so rare that only a handful of people in the world have ever had it, or she might well be the first to be diagnosed!  Great.  Do you have any idea what it is like to hunt down a diagnosis in these conditions?

We've come upon a few syndromes along the way where she had parts of the disorder but not others.  We were sure we were on to something at one point in time but the test results were negative.

We were back at Genetics again today.  More test results from months ago.

This time, however, the doctor presented an option.  There is a brand new test called Whole Exome Sequencing.  This test is being recommended to families who have had extensive testing, where the doctors strongly suspect a genetic disorder, and where all previous testing has yielded no results.  That would be us. If you want to know all about the test, I suggest you click that link.  Basically, they draw blood and examine the patient's DNA.  If there is something unusual, they would then examine the biological parents' and siblings' DNA to see how things compared.  Essentially, the test may not say, hey, Peyton has Syndrome X. If she had Syndrome X, chances are there was already a test done where that would have shown up.  No, this test will show where there is a variation on a gene or some sort of abnormality within the gene sequencing where they can say, hey, there is something wrong on chromosome xyz or however they would break it down.  

To finally have that information would be absolutely incredible.  It doesn't really matter so much for Peyton right now, as we would continue to treat each issue as it comes up and provide treatments and therapies as needed for those issues.  A name wouldn't change what we do in all likelihood.  It's not like we're going to find a "known" syndrome and all of a sudden could join Syndrome X's facebook page and support group and join in Syndrome X Day activities and read all kinds of online material on Syndrome X.  That's just not going to happen.

What would happen is this...

Someday, there exists the possibility that our older daughter, Moira, will get married one day and decide to have children of her own.  Is Moira a carrier for whatever syndrome Peyton might have??  Is there a chance that Moira might have a child like Peyton??  What population does this syndrome affect {as we might learn over the years as more data is collected}??  Remember - we had a stillborn son and a miscarriage.  Our only living children are girls.  Is Moira the fluke??  Is Peyton??  The more we can learn about Peyton, the more we can know for Moira's future.  It means a lot to have this information.  It's not just a "nice idea".

In addition to Moira, there's the world at large.  Imagine if you were the first child with Down's Syndrome.  It had to have been diagnosed for the first time somewhere along the way, right??  The more information we have on Peyton that is in the medical databases, the more likely {perhaps} it is that some day, somewhere along the way, there could be another patient with the same set of issues that their parents are frantically trying to put a name on.  What can they expect??  What can they do??  What is the life expectancy??  These are questions we've asked over and over, only we have no answers.  If part of Peyton's life purpose was to provide information to the medical community in order to help future patients, then it is worth it.  It would mean the world to someone.

Source: via Sarah on Pinterest

So, this awesome new test??  Yeah, it has a price tag of


As in, when I heard this bit of news after the build-up, I wanted to vomit just a little.  I wanted to cry...a lot.  I don't have $9,000!  I don't have anywhere remotely close to $9,000.  That means that Peyton cannot have this test.  It's so new, the likelihood of insurance covering the cost is pretty slim, although I'm going to ask.  The cost is but a drop in the bucket of the probably $1 million-ish that insurance companies have already paid out to care for her.

My heart sank.

But an alternative option was then recommended and we did do this.

DNA Banking.

We took Peyton down to the lab at the clinic and they drew a little vial of blood {a little purple-top tube just like the picture above} and it will be sent off and stored in a genetics facility.


Because it will outlive Peyton.

The doctor told me that that $9,000 test may be covered eventually as insurance companies see the need and more facilities begin offering the test.  Right now, the test is, ironically, only offered at Baylor {our old stomping grounds} and somewhere in California.  The doctor said in one to two years it may be covered and we can proceed then.

One to two years.

My heart sank.

I immediately thought - Well what good does that do us NOW??  Peyton may not even be here in two years!!
{As a side note, that is me thinking that, so for any family and friends reading that...we have no idea of her life expectancy other than that it could be to age 10 or 12 or so.  We just don't know.}

So...I sigh and I cry at the thought of what DNA banking means for us.  In the end, it is a wonderful thing because it will always be there, but as I posted on twitter today - 

I just need to seek God in this and pray that somehow some way this test will be covered through our insurance and that we might finally get some long-sought after answers.

I trust God with this.  He is bigger than this and can do great things!

I many coffee sleeves would I have to sell to raise $9,000?????

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