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!

Wednesday, January 16, 2013

A Better Day

Peyton had a better day yesterday than she had on Monday.  We did not wind up having to take her to the ER as I had feared we would.  She spent much of yesterday on room air.  She even tolerated her school therapists working with her yesterday {they come to see her at home, so that helps}.

Today is another day.  She had some issues overnight with not keeping her oxygen levels up where they should be.  She didn't tolerate BiPap last night, so she was on oxygen.  Even still, she dropped to 61% at one point.  There was a period of about 10 minutes where she kept dropping into the 70s  and then would come back up to low 90s.  It's the drops that are concerning.  I had to suction her at one point.  She had so much stuff in her throat that the suction unit wasn't even able to keep up with it.  It was so think and so much!

So far today, she is back on oxygen while awake.  Her oxygen saturation is low and her heart rate is elevated a little.  So much for the good day she had.

Keep the prayers coming!  They are very much appreciated!

Monday, January 14, 2013

In Sickness and Frustration

The past 24-36 hours with Peyton has been concerning to us.  I will say up front that she is at home - not in the hospital, so that's good news, right?!  I've talked about how she is requiring oxygen during the day while she's awake.  This has been going on over the past 2-3 weeks.  This is unusual for her.  There's no known reason for this to be happening.  From time to time she will manage to remain on room air, so that is good, but mostly she is requiring oxygen.

For the past day or so, however, she has had lower oxygen levels and a higher heart rate.  The heart rate began increasing further this morning and early afternoon.  It's typical for her heart rate to be in the one-teens but it's been in the 120s.  That's not so bad.  A little high for her, but not horrible.  This morning right off the bat it was in the mid 130s-140s.  It got up into the 150s.

Today was a frustrating day of "hurry up and wait" while I exchanged emails with one clinic {Pulmonary} and then another {Cardiology}.  She's not "sick", although she's had a bit of a fever today.  She's not exceptionally junky sounding - no more than "normal", but she's been on antibiotics for the past week just in case something was brewing.  Some of these symptoms were present last week when she went to the Pulmonary clinic.  It's just that things have worsened a bit over the past day or so.

The nurse practitioner in the Pulmonary clinic relayed messages to the doctors and got back with me.  They think that it's possible that the low oxygen saturation is possibly caused by mucus plugs in her lungs or atelectasis.  Please don't freak out when you click the link and suddenly see the words "partial lung collapse".  Read further where it refers to mucus plugs.  She does not have collapsed lungs, partial or otherwise!  As for the heart rate, they suggested getting in touch with Cardiology.

I wrote up yet another email and submitted that on MUSC's online system.  And waited.  I honestly wasn't sure I'd hear back today.  All day long, I was expecting to have to bring Peyton to the ER but by this point I was thinking we probably wouldn't be going.  In the end, the Cardiologist did email me back but he didn't think it was anything related to her mitral valve issues.

Frustrating day.  One specialty defers to another and that one defers back to the first.  In the end, I don't know that we got anywhere.  Peyton's issues remained throughout the day.  Pulmonary did suggest that being on BiPap would be the one thing worth trying to help with the oxygenation issues.  We haven't had much luck at all with getting her on BiPap lately, so I wasn't sure what we'd do.  However, between the nurse and I, we got her on BiPap and she stayed on for maybe about four hours total - portions of that time were enve while she was awake!

As Peyton is about to go to bed now, she's got a low fever still, her heart rate is up, and her oxygen is a little lower than normal, but her monitor isn't alarming...yet.

As for our nursing issues, we are getting our hours but they are piecing together several nurses to make it happen.  Great to get the hours, but it probably isn't in her best interest long term to have so many people in and out of here, especially when some work in hospital settings as well and others have other patients that they work with in their homes.

Please pray with us for healing for Peyton and for a good resolution to the nursing issues.  I'll keep you posted on how things go here.  As I said, it was a rough day.  I feel like this will just continue until we finally just have to bring her to the ER regardless of what the specialists thoughts on the matter are.

Thursday, January 10, 2013

And So It Continues...

That heading could apply to a couple things going on, so here goes:

Yesterday I asked for continued prayers for Peyton that she doesn't wind up getting sicker than she is now.  Please please pray. She wound up with a fever last night.  None today, thank God.  But she's not herself.  She sounds very junky when she's breathing.  She's becoming clammy every now and then throughout the day.  She's requiring oxygen support during the day.  Her oxygen levels keep dropping into the low to mid 80% range.  She began an antibiotic a couple days ago.  I don't see any difference for the better so far.  I a in touch with the nurse practitioner in the Pulmonary clinic since we visited on Tuesday.  I will likely try to get some input as to what things would need to look like for us to wind up going to the ER - since it's the weekend and all.

Home nursing.  If you've spoken with me lately, you'll know that the past few months have been so frustrating.  We let one nurse go at the beginning of October.  There are certain things that one just should never do on the job.  We were able to fill in her 40 hours with another nurse who, incidentally, we had to let go a couple weeks ago.  There are certain things that one just should never do on the job.  Not nearly as bad as the first one, but I don't think I am being overly demanding when I say that my expectations for a home nurse include a certain level of alertness while on the job.  Between that and recently getting our nursing hours increased, it's been very difficult to get people in here.  We had a temporary nurse {her regular patient was hospitalized and she was in need of hours at the same time we were needing a nurse}, but as of today that isn't an option for us {her patient is home again}.  They are pulling in nurses to fill in the gaps.  We'll see what next week's schedule looks like, but it's going to mean that we have about 4 nurses in here, which ideally is not good for Peyton.


Nothing is ever easy.  And so it continues...

Wednesday, January 9, 2013

Sick Again

Peyton was put on antibiotics yesterday when she went to the Pulmonary clinic.  She just hasn't been herself. Today was no different.  Until this afternoon.  She is now running a fever.  It took a while to start coming down after the nurse gave her some Motrin.  It kept going up actually.  It's finally down a little, but still a little fever.

I'd appreciate prayers for her that this doesn't turn into something worse.  She doesn't need to get sick!  Even a common cold could put her in the hospital.  She's also starting to get a pretty upset tummy with the antibiotics, so that's no fun either.  This just means that a really nasty diaper rash can't be far behind.  Poor Peyton!

As always, we appreciate the prayers.

Enjoy this scripture print which I created {Psalm 139:14}.  I just added that to my shop today.  {Did you know I had one??  Just a little something I do in my spare time.}

Tuesday, January 8, 2013

Appointment Update

Peyton had her first doctor appointment of the new year this morning.  She had a regular follow up appointment in the Pulmonary clinic.  She alternates between seeing the doctor one visit and the nurse practitioner the next.  Today Peyton saw the nurse practitioner.  She has had a lot going on with her oxygen levels dropping lately and requiring supplemental oxygen during the day {not typical for her}.  She just seems more sluggish than usual.

After visiting with the NP, she left the room to discuss everything with the doctor.  When she came back, she let me know that they had decided to do some bloodwork and also put her on an antibiotic.  The bloodwork wound up coming back ok, so that's a good thing.  Hopefully the antibiotic will help with whatever might be going on with her right now.

That's about all that's new right now.  Keep praying that our nursing situation is resolved soon.  We have most of our hours being filled, but one of the nurses is very short term temporary and it doesn't seem to me that anything is in place for when that ends.  I could be wrong.  I would just like to have reassurance that it is.


Sunday, January 6, 2013


Patience is definitely something that has been needed in this first week of the new year.

Once again, we have found ourselves losing yet another 40-hour-a-week nurse.  She was going to be moving out of state soon, but certain events hastened her departure from her assignment with Peyton.  I don't need to go into detail, but the level of professionalism of some home nurses just astounds me sometimes.  We are still trying to figure things out.  We have one 40 hour nurse, but she is temporary.  She travels, so is probably only going to be around a few months.  We have a temporary 40 hour nurse who is assigned to another patient who is hospitalized right now.  Everything is temporary, it seems.

Peyton is still having a great deal of difficulty with her chronic pain.  Mornings are particularly bad.  On the whole, I think it has improved a little since I wrote last, but it's still bad at times.  Again...patience.  Patience to endure this season.

As you can see, this blog is being populated with past stories from CaringBridge which I have been copying and pasting.  I want to have the entire CaringBridge log of entries copied over to this blog.  I've only got about 300 more posts to transfer!  Patience!!  I've updated the design to make it a little more appealing.  It's temporary, but I still wanted it to look nicer!  I'm trying to figure out the perfect name for this blog.  If you have any suggestions, I am all ears!

Thanks for bearing with me during blog construction!