Friday, January 25, 2013

Research Studies

Peyton has been doing about the same as usual for the past couple weeks.  She is still having issues with maintaining good oxygen levels, so she is spending most of the time on oxygen via nasal canula.  Her heart rate continues to be a little higher than normal as well.  Earlier this week, Peyton completed a two week course of antibiotics. We weren't really sure what was going on, so the pulmonary doctor put her on antibiotics just in case she had something brewing.  It doesn't seem to have done anything at all.  I spoke with the clinic the other day and she is going to start on an oral steroid for about 4-5 days to see if anything changes.  She quite possibly has some inflammation so it may help with that.  We shall see.

In other news, just prior to Christmas, we finally completed all the paperwork that was necessary for the Manton Center for Orphan Disease Research at Boston Children's Hospital.  This is the research center that Peyton has been brought into to see if they can unlock the mystery of her genetic disorder.  We sent in the research consent forms - one for each of the four of us.  A couple weeks ago we spoke with one of the people at the Manton Center regarding the study and what our next step would be.  We are awaiting kits from them which will have everything we need to have blood samples from Ron and I and a saliva sample from Moira sent back to them.  We'll take that to the lab at MUSC here and they can coordinate the delivery of the samples.  Boston Children's Hospital has Peyton's blood already, so hopefully there is enough for them to provide to the Manton Center.

Peyton's Geneticist in Boston is wanting to look at a specific gene based on the research he has done which has him believing her to have an exceedingly rare copper disorder {think in terms of her being one of 5-10 people in the world or quite possibly even more rare than that}.  If it is normal than they will move on to whole exome sequencing.  Right now, through regular testing, Peyton could have whole genome sequencing done to the tune of about $10,000.  When the Geneticist at MUSC mentioned this to us, it was not covered by insurance.  I am not sure if that has changed.  This test is, by far, the most advanced genetics testing available to the public.  Whole exome sequencing is still being done on a research level.  That testing is even more advanced than whole genome sequencing.  So, if she has this test, it will be the most advanced testing known ever.  It will be covered through the research study, so that is good!

This particular research study is on-going.  This means there's no end.  They will continue to work to find answers for us.  It's for patients like Peyton who have exhausted all other options of testing and who still remain undiagnosed.  The study is anonymous, so any labels pointing to Peyton are removed. She becomes a number for research purposes.  However, should they find anything, it will be reported back to her Geneticist in Boston.  Nothing will go into the patient record since it's an anonymous study If there are findings, we would have to go through a clinical lab {as opposed to the research lab} so that the findings could be officially be added to her medical record.  The clinical lab would require new samples for their requirements.

If nothing turns up in whole exome sequencing, then they will keep on researching and testing.

In addition to this, I was given the name of a doctor at the the National Institutes of Health in Bethesda, MD.  He had been up at Boston Children's Hospital and our geneticist up there had spoken with him about Peyton.  They are very much on the same page about what they think is going on.  This doctor is apparently a world expert in copper disorders.  While Peyton has a copper disorder of some kind, if you were to google copper disorders, I'm pretty sure I could tell you that none of the ones you will find are what she has.  She doesn't match up it the known copper disorders, yet the copper in her system is virtually non-existent.

This doctor at the NIH is doing clinical trials with copper supplementation.  It was up to us, but our geneticist spoke with me about contacting him to see about getting into that trial. What this means is that if we go this route, there are a lot of tests to have done on Peyton prior to starting any copper supplementation.  We were already planning on having this testing, but for sure it would have to be done before receiving any copper supplementation, regardless of where we would get it from {Bethesda or perhaps eventually Boston}.  We are working with Peyton's neurologist here to coordinate her having a lumbar puncture.  Similar to testing for meningitis, but the requirements for her test are much more strict {I will say that - they require a "pristine" sample.}.  She will also require a skin biospy at some point.  I am not sure if that will be done at MUSC or Boston Children's Hospital.

I have emailed Dr. K in Bethesda about the clinical trials so that I can introduce myself and to find out his thoughts on Peyton's participation in the trial.  I haven't heard back yet, but it's only been a couple days.  If we get in on that, we'll try to coordinate things so that we go to Boston and Bethesda in the same trip.  Apparently the Bethesda trial covers expenses so perhaps that's a separate trip that's covered.  Peyton cannot fly {impossible with all the equipment she requires}, so unless they get her a medical flight and have her stay in a hospital there, I'm pretty sure we'll have to drive.  It's on the way to Boston so it wouldn't be out of the way on a trip up there.

Aside from all of that, I have a new blog design!!  If you're here, then I'm sure you noticed it!  If you can believe it, I did it all by myself!  I'm pretty excited about how it turned out.  I hope you like it too.

Aside from Moira being down with the flu right now, I suppose the only major newsworthy item to report is that Ron's company recently {last week} had a surprise round of layoffs.  It was a tense day when that happened.  While we waited to hear if the cuts were finished on that day, we discussed a back up plan.  It isn't pretty...but it's a plan.  Thankfully, Ron's department was spared cutbacks, so all is well.  It made the news here.  I'm not sure how extensive the coverage went, but if you heard about layoffs at Blackbaud...that's where he works.

I will update you with any further developments on this whole research thing or if anything comes up with Peyton's current health issues!

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