10 months worth of updates in one post

Or, at least I will try.

I am not sure why I stopped writing in this blog.  I could provide many paragraphs on why life feels too busy to write it all down. But, that doesn't feel like an adequate excuse.  There are many parents of medically fragile kids who still take the time to write it all down.  That was something I,at one point felt was a priority--and for a time it felt less so.  To be frank, at times it is hard to write it ALL down.

Today it doesn't feel as hard. So, here is my attempt to try to catch up to where we are now.

2013 has been an interesting year.  In February we were able to go on Samantha's Make a Wish trip. As our girl likes everything princess (that is nature and NOT nurture!), and Mickey Mouse and crew, we picked Disney World and the Make a Wish Village (Give Kids the World).  I can't say enough great things about the village and the Make a Wish organization as a whole. We all had such an amazing time. Our every need was accounted for.  And for a sensory sensitive kid like Samantha, the village was a great place to hang out.  She had a wonderful time in the actual village. The parks were a little tougher to navigate. Not the fault of the parks, just the impact of a LOT of people trying to have fun in one space. Samantha doesn't really care for crowds too much. Although, she was able to enjoy a few of the rides and did manage to have a good time anyway.

Here is a pic of the three of us at Epcot:



Sammy after getting off a roller coaster that she loved:

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After settling in back home, unfortunately, we had a couple of hospital stays. In late March Samantha somehow got the flu (despite getting a flu shot), and we needed to be inpatient for 4-5 days in order to assist her with her hydration via IV fluids.  Then, just a couple of months later, a cold (positive for rhinovirus) also brought us back to CHOP for another stay just to keep her hydrated.

The summer flew by quickly. We were able to get away for a trip to Avalon with Val's entire family. It was a great house with an elevator and a pool and Samantha had a great time with her cousins. Later in the Summer we were able to take another trip to Atlantic City with my mother and again, and an elevator, pool, and some cousins really allowed Samantha to have a great time.   We are so very lucky to have an amazing family who help us to help Samantha have as much fun as she can.

As far as medical issues, Samantha continues to be medically stable.  Her personality is amazing and she manages to handle most medical things with a smile. Hospital stays are a bit tough on her (understatement of the year--she HATES being inpatient), but I can't say I blame her.  Cognitively she is doing well. However, her motor skills continue to slowly decline. She is not able to walk any longer, and recently has been struggling with her hand control.  At times it seems to frustrate her, but she is able to communicate her needs and we assist her as best we can.  Her constant smile helps us all along.

For conservation of energy, we hook her up to her ventilator at night (and one hour during the day), but her O2 and CO2 levels are always fine.  Samantha continues to take her experimental drug EPI-743.  We absolutely believe it is helping to slow the progression of her disease (And we are so very grateful for that!).  However, it is not the complete cure we were hoping it would be.

Due to our fear of germs and Sam's general clingyness, we decided to continue her home services for another year. So, rather than go to kindergarten, she receives Speech, PT, OT and Special Ed Instruction in the home. Between her therapists, nursing, and home health care company, it feels like our condo has a revolving door on it! She enjoys the visitors though, and each morning I need to give her a run down on "who is coming today".  In addition to her therapies, and other appointments, we also try to get out as much as we can.  Sammy's current favorite trips out include the park, the mall (Cherry Hill to get Lorenzo's pizza, and Claire's to get another fabulous bow to add to her collection), and her absolute favorite store-- Five Below.  The girl loves to shop for all things girly, not sure where she picked that up from. (Not being sarcastic at all, really, who taught her this??? ;))

Recently, we added a few things to our equipment list.  Samantha received a new wheelchair a couple of months ago.  Sammy picked hot pink of course. The chair accidentally came with a teal backrest but as Samantha loved it, we kept it for her. She also received a gait trainer just a couple of weeks ago--the Mustang. She seems comfortable in it and we hope she will develop her leg muscles while using it.  And, finally, we purchased an accessible van to go along with the new wheelchair.  It has made our lives much easier. And, I know Samantha enjoys being wheeled into the van. As she enjoys her new chair so much and seems so comfortable in it--it really makes traveling with her much easier.

Here is Sammy at the seating clinic getting her new chair a couple of months ago....



Speaking of traveling...

This past week we went to visit Sam's neuro in Akron, Dr. C.  It was a mostly uneventful visit. We noted that Sam's weight has dropped a little.  In the past, we had cut her formula through her g-tube as she still eats some by mouth. I do believe her eating has dropped some.  She is struggling more with chewing and swallowing in general. So, less calories via food would explain the weight loss.  Plus, Dr. C feels that as her dystonia increases (actual movements while sitting in her chair), her calorie needs may be increasing as well. Sam is still in a perfectly acceptable weight range, but we are increasing her feeds by one bolus a day and see how she does with that.  We will be following up with her nutritionist in November to make sure we are on track.  In relation to her hands being tight, Dr. C did feel that baclofen (sp?) might assist with the tightness. However, he felt that the dose she would need to actually see improvement would cause drowsiness and thus not really be worth it. We agree with his opinion so won't be starting it anytime soon. Obviously if things change and get worse, we can revisit that option at a later time.  Finally, as Sammy still struggles with bowel movements, he felt we could add Miralax back into her regimen to see if that helps.  We will go back to see him in another 6 months or so.

Upcoming appointments include a yearly follow up with Cardiology, a pulmonary follow up, and a GI follow up.

In September we participated in the UMDF's Walkathon. Team Samantha did even better than last year, raising well over 7,000 dollars! We surpassed our goal by over $2,000!  Val and I are so grateful for all of the love, support and caring we receive each day of the year.  The support at the walk was just  above and beyond what we could hope for.  Without funds for research, a cure will not be possible.  So thank you times 1000 from the bottom of our hearts to everyone who participated, donated, or even just thought of us that day. We appreciate every one of you.

I hope this update was somewhat coherent--I tried my best.  And, hopefully I will be able to write again before another 10 months goes by.  :)

Until next time,

Monica

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