Almost 2013 already?

I'm not sure if there is a minimum number of posts per year needed to officially call something online a blog.  If there is, I'm sure I did not meet the minimum requirement of posts this year.  I am truly sorry about that.  It seems life gets in the way.  Or, more honestly, I may be trying to enjoy our lives rather than write about them so much.  Regardless, I will try for as much of an update as I can muster regarding the last three or so months.

My last post mentioned the UMDF walk that we participated in back in September--attempting to raise money to find a cure for mitochondrial disease.  I am happy to report that Team Samantha raised over 5,000 dollars in support of the cause.  Val and I were overjoyed and humbled by the support we received--both by those who walked with us, and those who provided donations.  We thank you from the bottom of our hearts. We couldn't walk this journey without the love and support of our friends and family--so again, we thank you.

Samantha continues to struggle with her gross motor skills.  She hasn't been walking independently these past few months.  Although, we have been encouraging her to use her walker each day as much as she can tolerate.  We went to see Dr. C in September who feels this may just be an evolution of previous brain injury and not necessarily anything "new" in terms of disease progression.  The only way we would know for sure if Samantha's disease is progressing is to do brain MRIs often. As that requires sedation, we aren't going to do that.  Val and I feel that the best predictor of how Samantha is going to do, is to watch and see how she is doing.  For now we are comfortable with this approach, and hope that her walking may one day improve again.  

Another newer, more recent symptom is she seems to be developing myoclonic spasms.  For those of you who know and see Samantha often--you probably have noticed that she startles easily.  This is most likely a neurological response to stimuli--it is common in those with brain injuries.  Her newer symptom is basically an extension of her old "startle", it just looks more pronounced.  It also seems to be happening with sensory stimuli (visual or auditory).   It isn't anything that is impacting her too terribly in terms of quality of life, it is just something to notice and pay attention to.  We will be seeing Dr. C again at the end of January and will discuss it with him further. 

New symptoms aside, Samantha really is doing wonderfully.  She is happy, and smily and continues to amaze us with her sense of humor and her sweetness. Her language and verbal skills continue to improve.  Her current joys are watching Caillou and Glee, trying to make us laugh, and face timing on our iphones with various family members.  Samantha loves snuggles, kisses, and hugs.   Despite her physical limitations, she is having a ball and reminds us daily to enjoy each and every moment with each other.  

Until next time,

Monica

August update

There is never a stagnant moment when it comes to Samantha. Things are usually going up, or down.

I am sorry to say that within the last few weeks we have seen yet another slow up in terms of Samantha's motor skills.  Sam has stopped walking again. And, we aren't really sure why.  We have a follow up appointment with Dr. C in Ohio again in mid-September--so perhaps he will have some additional insight.

In addition, Sammy came down with a cold last week, which she handled beautifully. For the first time in several colds, we did not have to go to the hospital for and admission and IV fluids. Val and I are very grateful for that.

Samantha is still her perky and funny self. She is still talking up a storm. But again, no walking to speak of at this point.

Speaking of walking...

Val, Samantha and I are participating in the local UMDF's Energy for Life Walk on September 8th.  If you are interesting in participating or donating, click on the link below.

Team Samantha Fundraising Page - Team Samantha's Team Page for Energy for Life Walkathon - Delaware Valley 2012

Until next time,

Monica

What goes down can sometimes come up

In the last few weeks, I am happy to say that Samantha has had a great turnaround.  Her motor skills are back on the upswing. She seems less clingy and more energetic.  In general, she is doing just wonderful and we are very thrilled to see it.

Usually, Val and I don't really like to discuss the positives for fear they will somehow disappear.  But in the past we have not discussed them and they disappeared anyway.  So why not share?

We have no idea what exactly is helping Samantha the most. Is it the digestive enzymes we started? Perhaps they are allowing her to absorb the EPI-743 and other supplements.  Is it the increase in all of her regular supplements?  Is it the addition of l-citrulline to her daily meds?  Is it the hour a day on the vent we give her as a "break"?  Or, is it that we have continued to give her more elecare than we have been previously?  As Dr. C likes to say, airway and nutrition are so very important for a child like Samantha. Perhaps, it is a combination of all of the above

Regardless of the reasons behind the improvement, we will take it!

Sorry for such a brief post, but I did want to let everyone who cares about our girl know that she is back on the upswing.

Until next time,

Monica

Spent a few days inpatient this week

After last week's appointment in Ohio, we had a few days at home trying to sort out Samantha's new med/vent schedule.  On Monday morning our girl woke up seeming to be her usual self.

And, then the sneezing started.

I probably should have counted the sneezes, as I have never witnessed anyone sneeze quite as many times as she did that morning.  Within a few hours, she was just plain sick.  By three PM Samantha was feverish, coughing and not keeping down her fluids.  Sam looked like most of us would look after weeks of being sick. At 8 PM we reached out to Dr. C to see what he thought we should do (knowing full well what his answer would be).  He recommended we go to the ER to start IV fluids.

It probably seems silly to most to take a sick child to the ER after just a few hours of not keeping fluids down. But unfortunately, that's what the doctors feel would be best for Samantha due to her mitochondrial disease.  With typical kids, you would take them to get IV fluids IF they were dehydrated. In Sam's case, you want to avoid dehydration at all costs  (both for the immediate affects on her body, and to possibly avoid future progression of her disease).

So, for the second time in less than two weeks, we went to the ER.  As usual, Samantha did great in the intake area, but began to cry as soon as she saw the room with the bed in it.  She hates the ER, and staying in the hospital.  The attending in the ER agreed that IV fluids were necessary and admitted Sam. Due to Samantha's trach/vent, all hospital stays begin in the PICU.

To sum it up quickly, it was three days of a sad, sick kid and mommy in a bed.  If mommy tried to leave the bed, the kid became even more sad.  Therefore, mommy did not leave the bed.

Medically speaking, she tested positive for rhinovirus (a cold). Samantha was given IV fluids for a little over a day and then they began to taper them off as her feed levels were able to be increased. By Wednesday Sam was cleared to move to the PCU.  (The Progressive Care Unit--which although still considered critical care, is a step down from the PICU at our local hospital.)  We were able to come home on Thursday night.

Samantha is still struggling with the lingering affects of her cold, but she is definitely much happier now that she is home.

It's been a long few weeks for all of us, and Val and I are hopeful that things will begin to settle down soon.

Until next time,

Monica

Where to begin?

What happens when I don't post for a few months?  A lot.   Mostly not that great, but there is a light at the end of the tunnel, so to speak.

Over the last couple of months, Val and I have watched our sweet girl lose a lot of skills she worked hard to achieve.  As a parent, that is hard to watch.  Despite cognitively being as she always has been (and yes, we are lucky and grateful for that), her motor skills have really declined, with no real explanation other than disease progression.  She's lost more function in her right hand/arm, her left hand is now less coordinated, her walking has tanked despite a bigger brace on her right foot, her chewing/swallowing has become labored and her speech more difficult to understand, and her anxiety has increased again.

Last week we reached out to our local metabolic doc who after hearing our description of issues, was concerned about a stroke.  Due to Samantha's mutation, she absolutely is at risk of strokes.  However, we suspected it was not something as acute as a stroke as we have seen these changes occur gradually (although the last few weeks it does seem they progressed faster).  Nonetheless, it was decided we would make a trip to the ER to rule out a stroke.  We were stubborn and waited until the morning as we were not up for taking a sleepy kid to the ER to be poked and prodded.  Once the ER folks examined Sam and talked with us, a stroke was soon ruled out.  The neurologist on call was very sweet to us, but really did not suggest much in terms of how to help Samantha get back to where she was a few months ago.  Instead, she gave us the "look" and talked about quality of life.  While we appreciate how serious a diagnosis Leigh's is, we are not quite ready for that talk yet, and we have seen our girl bounce back before.

We went home a bit (a lot) deflated last week and began to deal with more anxiety in our girl caused by the day at the ER.  Deciding that perhaps the local, nationally acclaimed hospital might not be what we always need, we reached out to Dr. C in Ohio again.  Val talked with him at length on the phone and via email, and it was decided we should go out and see him ASAP.  In addition, we decided that despite the distance, we would prefer to have him be our primary neurologist going forward. To be honest, the neurologist we've felt the most connection to at our local hospital is leaving in July anyway, so this is actually perfect timing.

Through small miracles and the generosity of kind people, we were able to get to Ohio yesterday on a private flight (trying to get a commercial flight squared away for a trach/vent kid in less than a few days is darn near impossible, and driving would have Val away from patients far too long).

Dr. C spent many hours with us yesterday and today.  He felt there were some holes in Samantha's treatment plan and was willing to provide hope that perhaps we can get Samantha back to where she was a few months ago.  Hope is good. Very good.  Dr. C is increasing a few meds, and adding two more. In addition, we are going to give Samantha a couple of hours of "vent" time during the day to see if that helps conserve her energy level.  Finally, she had two blood draws today to see how well she is absorbing the EPI-743.  If she is not absorbing it as she should, there are definite ways to help fix that problem.

The truth is, as wonderful as Dr. C is (and I do mean truly wonderful), there is no guarantee that any of this will work. The other truth is, as a parent and primary caregiver to the most wonderful being in the world, this man is the best thing that we have found for her.  Val and I trust him, and his desire to help. We believe in him.  And, he believes in Sam getting better.  Even if none of this works, it is comforting to know that we have given our daughter's care to someone we feel truly deserves the honor.

Until next time,

Monica

A year ago

Yesterday marked one year ago that Samantha went into respiratory failure.  I can't imagine that we almost lost her. The events of that day will always be cemented in my memory.  Our family surrounding us while our little girl was being saved by the team at CHOP.  To call it a surreal moment is definitely an understatement.

This past year has been a roller coaster of emotions, hospital stays, ER visits, nursing schedules and lots of new equipment to adjust to.  Val and I went from thinking we may lose her within a week, to watching her get back to herself and then some, to thinking we would be able to remove the trach, to realizing that at least for now, the trach has to stay.

And by the trach/vent staying, that means that we keep the equipment, the extra bags, the nursing care. The crazy that is our daily lives.

Val and I are always trying to adjust to whatever has been thrown at us....all the while making sure that Samantha has the best time she possibly can.  If her disposition is any indication, she seems to be having a ball.  Despite her health issues and various accessories, we have been rewarded with one of the most loving, smiling, sweetest little girls.  As usual, I have no idea what the future will hold.  But, I suppose that is true for all of us.

Until next time,

Monica

Just a brief update....

Samantha continues to get better following her bout with RSV a few weeks ago. Sammy is still on her vent at night and also getting her overnight tube feeds.  We feel the combination seems to have brought back some of her spunk that she was missing a month or so ago.  She is toddling more and seems to have more energy than she had about a month ago.

While Val and I are upset that we won't be removing the trach anytime soon, we are very happy that adding back in those two things seems to be helping again. And of course, Samantha continues to take EPI-743 which we feel is doing wonders for her.

Until next time,

Monica

No news WAS good news

As usual, I am a horrible blogger.  There has been lots going on however, and I will try to update as best, and as briefly as I can.

When we last left our heroine, she was riding into the sunset on her first pony ride.  Right around Halloween was the best Sammy has ever been, and I hope the pics from the last post show it.

At the end of November, Samantha caught an illness of some sort, with fever, congestion etc. It eventually passed and no real intervention was needed. However, Val and I began to think a few weeks ago that the cold had a negative impact on her.  We also had changed some things in Samantha's care within the last few months. (Sam became vent free in September, and the next month, due to lots of weight gain and eating tons, we cut out her overnight tube-feeds and replaced them with water to ensure she was still getting all of her hydration. )

Sammy was still doing all the things she had been doing (walking, talking, eating lots, funny and cute as ever). But we noticed around the holidays that she didn't want to walk as much. She wanted to play less, be picked up more etc and so forth.

While Samantha's numbers were still fine (CO2 levels, o2 levels), Val and I couldn't help but flashback to last year. We both agreed that this slowdown in Samantha was reminding us a lot of last year.  Sam started slowing  up a couple of months before she went into respiratory failure.  We did not want to go down that road again, and were thinking perhaps we would give her additional help NOW, before things spiraled as they did last year around this same time.

A week and a half ago, we consulted with Dr. C in Ohio and expressed our new concerns.  He agreed that although he still feels that the EPI-743 is doing wonders for Samantha (as do we), perhaps adding back in some of the care that we had felt she "graduated" from would be a good idea. He was very kind in his email and did mention that as parents/professionals, there is a tendency to "move away from the technology that helps--which is fine until we need it again, and then we should use it".  He encouraged us that this was not a step backwards at all.

So, last Monday morning we made the decision to bring the vents back into the house so that we could allow Samantha to use vent support at night to see if that helps bring back some of her previous energy. On Monday, Val and I were feeling a little down as we both were really looking forward to taking out her trach in March.  Bringing the vents back in meant that at the very least, this step would be delayed a little until we figured things out a little more.

And then, on Monday night, Samantha got sick.  She went from being totally ok in the morning, to having a fever, cough, congestion and throwing up by Monday night. She stopped eating.  Sam stopped wanting to play. Thankful for her g-tube, we and her nurses tried to hydrate her as best we could.  On Tuesday her vents came back so we put her on the vent that night. She continued to have fevers on Wednesday, and we grew increasingly concerned. We made the decision on Wednesday to go to the ER and got some bloodwork and a chest x-ray--both of which were unremarkable.  Samantha hates the ER more than anything else and was not happy to be there--getting poked and prodded. Sammy was crying and very upset in addition to just feeling horrible.  Therefore, despite our reservations about leaving, when the attending doctor told us things were ok enough to go home and to continue to keep her hydrated through her tube, we jumped at the chance to get her out of there.

Instead of getting better, Samantha continued to get worse. She wanted to lay in bed all day, and didn't even want to watch Sesame Street on TV. Sammy continued to refuse food and was throwing up a lot of the liquids we were putting in her g-tube. Her cough sounded horrible and she seemed like she was in pain.  Again we reached out to Dr. C on Friday who told us to go straight back to the ER and request IV fluids. He cautioned us that the doctors cannot treat Samantha like a typical kid. And, that her Leigh's disease means that she needs extra support even during a normal routine childhood illness.

Friday afternoon we headed back to the ER, and THAT attending doctor was surprised that the attending on Wednesday did not admit us right then and there. So, we got a bed in the PICU Friday night and more bloodwork was run.  As she had been on antibiotics for several days and still had a fever, they ran a tests for viral illnesses.  To be honest I thought that was done on Wednesday and had come back with nothing.  On Saturday morning, we found out that she tested positive for RSV.  We aren't sure how that could happen as we are very protective when it comes to Samantha and germs. But, I guess you really can't prevent a child from getting sick, no matter how hard you try.

The PICU kept her hydrated through IV fluids. On Friday night we were really concerned when Samantha started desatting while on her vent, so O2 was added.  That was the first time Sam has ever needed o2 while on her vent.

Although Samantha still wasn't eating, we kept trying to use her tube to get her formula in her. When she was tolerating her feeds again, we stopped the IV. And, finally on Saturday night her fevers stopped.  In addition, we were able to stop the o2 use. On Monday we took her off of her vent for the first time in days.  The doctor on Monday felt that if there were no negative events, we could probably go home on Tuesday and continue to get her stronger there (if there was no IV fluids needed anymore, there was no real need for us to be there as we have a lot of things in place (feeds, vents) at home.

Yesterday (Tuesday), she was obviously still feeling better, and we got the official clearance to go home. And here we are.  I am happy to report that Samantha ate a pancake this morning. And wanted to "play" for the first time in over a week. She is now relaxing watching Sesame Street.

Sammy still seems a little weaker than her normal self. But that is to be expected considering where she spent the weekend.  Val, Sammy and I are all very, VERY happy to be home.

Until next time,

Monica