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

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

A day of firsts

Yesterday was a great day!  So often on this blog I forget to include things other than boring, dry medical updates.  Despite our daily chaos, Val, Sammy and I manage to have a good time.  My older sister talked us into meeting her at a pumpkin patch yesterday. We then headed to her house for some good food and pumpkin carving.  Samantha loves spending time with her cousins, and she had a great day.  She even managed to do a few "Firsts" including pumpkin picking, pumpkin carving, a non-hay hay ride, and a pony ride.

Here are some pictures from our amazing day!

The pony ride!  (Very afraid but she hung in there!)



The wagon ride!  Apparently the rides don't always include actual hay anymore, which was wonderful.  My guess is that trachs and lots of kids/hay in close quarters would not be a good mix.  So, Samantha was able to enjoy the ride with her cousins.  :)



Picking pumpkins with her cousins, and yes, Sammy lifted her very own pumpkin and still stayed upright!



Always nice to get all three of is in the same picture...



Pumpkin carving at Aunt Shannon's and Uncle Angelo's!



The finished product!  To be honest, Sammy's uncle was actually the one that carved it.  Neither Val or I have the skills to do such a top-notch job.



A special thanks to my sister and her husband for hosting such a wonderful day!

Until next time,

Monica

MRI results and a few other updates

Samantha had a brain MRI a couple of weeks ago.  She did well through the general anesthesia and seemed back to her typical self by the end of the day.  MRIs are not my favorite thing to have done.  In fact, I hate them.  It's hard to read about and see that your child's brain has things going on that aren't quite right. The brain, as we all know, controls everything there is about a person.  Personality, health, vision,  hearing, swallowing, breathing, living etc and so forth.  In addition to knowing that your child's MRI doesn't look like a typical MRI, it is especially hard to know that new MRI looks worse than the old one.  So, needless to say, in the weeks prior to and after any MRI, I struggle a bit more than usual.

To give a history of Sam's previous two MRIs---they were done only 4-5 months apart and the 2nd MRI looked worse than the first.  It was the first absolute proof we had that this "thing" going on was progressive in nature.  When things went horribly wrong this past February, we declined to get an MRI.  Actually, at one point I think we agreed but then it didn't work out with scheduling and we didn't think it was important enough to have her sedated yet again for a test that wouldn't change what we were doing at the time.  So, this most recent MRI was 14 months after her last one.  And, about 7 months after starting EPI-743.

The results were about as good as we could hope for, given the nature of Leigh's disease.  The lesions in her brain stem area actually looked smaller and "less bright"-which is a very, very good thing. That is most likely the reason she is no longer on the vent.  However, there were new lesions in her basal ganglia area that were not there the last time the pictures were taken.  The new lesions probably explain why her right hand is fisted way more than it used to be. (Her right side has always been slightly more impacted than her left, as the left side of her brain is more impacted when looking at her MRIs).  But, as it was so long since her last MRI, those lesions may have been worse at some point and also gotten better.

We've been told that lesions can sometimes "come and go" with Leigh's disease. Therefore, it is still unclear how much impact EPI-743 had on that specific thing. However, we've also been told that when children get as sick as Sam did in Feb., it is sometimes possible for them to get better, as she did.  But, in general, the child's new "baseline" is not quite as good as it was before.  That is absolutely not true in Sam's case. She is doing as well as she did prior to getting really sick in February. And, perhaps that is where EPI comes in?  It is too soon to say, but I plan on keeping her on EPI as long as we can, if not forever.

In other news, I think we have decided to at least wait until after flu season before attempting to remove the trach. So, nursing care and suction machines will continue to be in our short-term future.

Our girl has outgrown a 3rd g-tube.  Therefore, we have stopped her overnight feeds and replaced them with water for now.  If she begins to lose weight, we would absolutely add back in the feeds. For now, she gets 1200 mls of water through the tube each day, in addition to all of her meds. As I  have said before, the g-tube will most likely be around for a long time, if not permanently.  It is so essential to her hydration (and nutrition if/when she needs it). Not to mention we no longer have to do a sing and a dance (literally) each time we need Sammy to take a medication. Now she helps "push" her meds and has a good time doing it.  Long live the g-tube.

I will try to update more when I can.  Thanks so much for reading.

Until next time,

Monica

No news is good news

Obviously, I am a horrible blogger as it has been over two months since my last post.  Or, something like that.  I am not sure why it's been so long. We always do feel busy, but that is nothing new.  I know there are a few of you out there who have expressed an interest and actually do use the blog to get your Samantha updates.

Amazingly, it's all good.  Samantha eats by mouth the entire day and only receives her tube feeds at night. (We also provide her hydration through the g-tube by giving her lots of water boluses throughout the day).  I expect the g-tube will be around for a long time, and I think we are all ok with that.

Samantha has been off of her vent completely now for over two weeks and all of her numbers continue to look good.  She's walking and talking better than ever. Her stomach seems to be moving things appropriately.  Her last labs all looked as good as they ever have. So yes, she's doing really well.

Samantha's doing so well, in fact,  that there is talk of removing her trach at some point soon.  If she doesn't need the vent (and right now she doesn't), and her lungs and airway are fine (as they always have been), there is no reason for her to have a trach.  To be honest, removing the trach scares me because at some point we may have to put it back in.  However, if there is no need for it at this time, it is an infection risk and should come out.  Val and I aren't ready to rush it out just yet, and want to make sure Sam can go a few months without any vent use before we make that decision.

Samantha has an MRI scheduled for this Friday, her first in over a year.  I am not looking forward to her being placed under general anesthesia again. She seemed to do well with it the last two times. But she was in the PICU at that time and not moving around much anyway.  I'm not sure how it will go to have her discharged the same day.  The hospital is taking her case seriously, and I know they will use every precaution necessary to ensure the best possible care for Samantha.  I hope the results of the MRI will give us a clearer picture of how much the disease has progressed in her brain (if at all).  In addition, perhaps it will provide us some insight on how quickly to remove the trach.

Sam continues to take EPI-743 and as always, we believe it is truly helping her.  We also believe her g-tube and all of the hydration/nutrition it has provided her is helping as well.

Samantha continues to be her funny, loving, smart, adorable self. Val and I enjoy having her visit with our families as much as possible and are still loving being in the city with her. The kid loves a good party.

Sammy has come so far since the dark days of February. This time last year I couldn't have imagined what happened in February was going to happen.  The last year has been a complete roller coaster of downs, and now ups.  We'll take the ups and not try to think too far ahead.  One day at a time continues to be our mantra.



Sorry again about the lack of updates.  Hopefully, my next post will be much sooner than two months from now.

Until next time,

Monica

Much needed update

So sorry for not keeping up with this blog.  We are finally settling in to our new condo and I have to say, we absolutely love it.  One floor living is so nice in general, and especially when you have a child who has mobility issues.  Samantha loves our new space and her walking has improved greatly.  I'm sure she feels a sense of independence as she can get to anywhere she wants in the place--which was not true in our old house.

In general, Samantha is doing amazing and better than ever.  I can only assume the study drug has much to do with that.  She's been walking better than she ever has. I took her to the mall this week and for the first time ever she got out of her chair and walked around the mall by herself. I teared up watching her slowly toddle around all by herself. Sam eats more (by mouth) with her g-tube in place than she did prior to getting it.  In fact, ,we have cut out her daytime boluses and she only receives her overnight feeds now.  Her weight is a slight concern. But, for the first time that is because we are worried that she is gaining too much, rather than too little.   We are slowly weaning her off of the vent and she now sleeps 4 hours at night without the support of the vent.  It is very possible that soon we could be vent free.  And, if she is able to be vent free for a period of time, we would also be able to remove the trach.

All that being said, our poor girl is sick right now. She's been extra junky the past few days and today she had a fever of 101.  Fevers are always very scary for kids with mitochondrial disease, so we are paying close attention. We are encouraging her to rest a lot today, and are happy to see that so far she is still eating and tolerating her water flushes.  I just hope the fever/sickness passes without any lasting impact on all of her new skills.

I hope now that things are settling down from the move I will be able to update more frequently.

Until next time,

Monica

Who says you can't go home?

So sorry for the lack of updates. We have been busy, to say the least.


We are now officially back in Philadelphia!  Both born and raised in Philly, Val and I had been in the burbs for 8 years or so.  Most of our family is still in Philly, as is CHOP, as is Val's work. It made sense that we should come back, so we sold our house and now are back to being city mice. Due to a very last minute screw up with our mortgage on our new condo, we are squatting in Val's parents' house for a week before our settlement happens this Friday.  I will say that the one week reprieve between packing up and unpacking is much appreciated.  For the first time in months I don't feel extremely rushed or panicked about needing to do something (aka, packing up the house).  Getting the house ready for settlement (while caring for a clingy, medically needy toddler) was just as hard as I thought it would be.Thankfully, it's over now.  Originally apprehensive about moving back to the city, now that I am here, it feels like it absolutely was the right decision.  I am looking forward to making our new condo "home".


As for Samantha, she is doing great!  She's walking better than she ever has. She's talking up a storm.  She's 30 lbs now (she was 22 lbs in February) and we've needed to cut back her tube feedings. In fact, she's eating so much by mouth that I wonder if at some point we will need to greatly reduce the tube feedings.  Sam is off of the vent all of her waking hours. And, we got permission from her pulmo last week to try a nap or two without the vent to see how she does.  Val and I are nervous about doing too much too soon during this time of transition for us. However, once we are settled into the condo we will definitely try to see how she does off of the vent while sleeping.   At this point the pulmo isn't even sure she needs the vent at all.


She's come such a long way in just a short amount of time. It's been amazing.  The more she improves, the more I am convinced that the study drug has something to do with it.  I still plan on taking things one day at a time, but this has been such a wonderful thing to watch.  My sweet, smiling girl is having a great time right now and every day with her is such a gift.


In short, we are back home, and we have our girl back to herself and then some.  What more could a family ask for?


Until next time,


Monica

Home two weeks

Time flies when you are having fun.  Well, really, time flies when you are crazy busy adjusting to life with a child with a g-tube, trach, vent and 24 hour nursing.  As of this very moment, we are down to 16 hours a day nursing. Which means our house is currently nurse free for the first time in two weeks.  Don't get me wrong, the nurses have been absolutely wonderful.  We have been very happy with everyone the agency has sent. And, we haven't had one missing hour in the last two weeks. It was just a new experience for us to be with someone in our home 24 hours a day.  

Along with being back home, we are planning a move, and Samantha turned three.  In addition to a kick-ass birthday party she had this past weekend, I also have had to coordinate changing her therapies from the early intervention program to the IU.  And, then in six weeks we'll get to change to a different county!

Despite all of the craziness, all three of us are really glad to be home, and Samantha continues to do so well.  

We were back at CHOP yesterday for a variety of tests she needed as part of the clinical trial she is in.  I haven't talked much here about the clinical trial as I haven't quite known what to say.  We are so very grateful that Samantha was able to begin to receive the study drug (EPI-743) in February.  We feel there has been much improvement during the time she has been on the drug. As there were a few things added at once (g-tube, trach, and the drug), it is hard to say what is helping the most. But, we all do believe the drug has been part of what allowed Samantha to have such a turn around after her respiratory failure.  Prior to her hospital stay Samantha had irregular breathing patterns (consistently for at least a month, 24 hours a day).  Now, even when she is off of the vent for hours, I no longer see those strange breathing patterns.  And, she no longer "zones out" as she had been doing. So yes, I think the drug is helping along with everything else.  Again, I am so very grateful Samantha is able to receive this drug and hope she can continue to receive it.

However, there are many children with Leigh's who may also benefit from the drug but are not able to receive it because they don't have a genetic "marker" found yet that proves they have the disease.  (It's an FDA rule that the drug can only be trailed in children with genetic "proof" of their disease.)  I can't imagine the frustration and anger the parents of those children must feel.  I know of one little girl diagnosed with Leigh's whose parents tried to get an exception to the rule--and the FDA refused to grant an exception.  The little girl, not yet even two years old, passed away in January.  The rule needs to change.  Period.  What harm would it have done to her to allow her to trial the drug?   Now, her parents, the FDA and the company that makes the drug will never be able to know if the drug could have helped her.  Perhaps saved her?

Despite the current FDA rules, my hope is that Samantha trialing the drug will be a part of something that will push mitochondrial disease treatment even further ahead.  And, that is so desperately needed.

Until next time,

Monica

Home Sweet Home

Sorry about the cliche post title, but I just had to do it.  Yes, we are home!  We arrived home yesterday morning after our very first ambulance ride.  Luckily, the lights did not need to be on for the trip.

Samantha is very, VERY excited to be home.  She has been moving around more than she has in months (even pre-hospital admission). So far, she seems to be handling the nursing situation ok. Strangely, the home nurses are doing more than we were letting the CHOP nurses do (meds/feeds etc).  Val and I really wanted to make sure we were able to do everything relating to Samantha's care before we were discharged, and so we did the majority of her care towards the end of our stay.  But, within the last day or so we've had to organize a hospital's worth of supplies in our house and also unpack three months worth of things that we accumulated at the hospital.  Needless to say, we have been busy.  Really busy.  I am so grateful when I hear the nurse say, "Oh, it's six o'clock, time for her feed. I'll get it."  In addition, Val and I were able to take a trip to Target (to buy things to store all of Sam's supplies) all by ourselves today.

Now that we are home, we need to start packing. We were able to sell our house and will be buying a one floor condo in the city.  We will be moving mid-June, so we have lots to do between now and then. We are all very happy that we will be so close to Val's work, family, and CHOP.

I know my recent posts have been brief, but as I mentioned earlier we have been oh so busy, but I did want to update and let everyone know we were home.  Thank you so much for all of your kind words, support and prayers.  We are also very grateful to the Progressive Care Unit at CHOP who were so amazing with our sweetie.  

Until next time,

Monica

Fingers Crossed, home tomorrow!

Our 24 hour stay went well, and we had our discharge meeting yesterday.  As she is doing so much better, we brought Samantha to her own discharge meeting.  I think it may have been the first time that happened on this floor.  Samantha handled the hour long meeting very well, and enjoyed sitting with all of the grown ups.

Barring any last minute complications, we should be home tomorrow morning.

At home waiting for us is all of Samantha's new equipment--feeding pump, ventilators, heaters, suction machines, etc, nurses and so forth.  We will now be a hospital away from home, and we will be thrilled to be there.

It is really hard to put into words what these last few months have felt like for us.  It has been quite the roller coaster, to say the least.  

Right now, Samantha is doing amazingly well.  She is, dare I say, better than she was prior to admission.  And for that we are so, so very grateful.  We aren't sure how long she will need the vent for, or if her need will increase. Or perhaps a little of both.  As usual we will take it one day at a time with our little sweetie, and enjoy every minute.

We are very thankful for all of our family and friends who have made this admission go as smoothly as it could.  We love you all.

Until next time,

Monica

GI troubles and a 24 hour stay

Samantha had a good week with the exception of some GI issues.  She may have some sort of GI bug in her little body.  It started with some vomiting and a low fever a few days ago.  And now the vomiting is less, but now the other end is having a bit of extra traffic  (sorry for TMI!).  Ironically, she had some stellar blood work drawn yesterday.   Her BUN, sodium and bicarb were all in normal range, and her lactate was 1.8 (also normal, Samantha's is usually high).  Perhaps vomiting suits her?  We had the nurses send some stool to get cultured last night just to see what comes back.  Through it all, Sam's personality is in tact and she continues to laugh and play. The kid is a champ.

The cardio team came by this week and diagnosed Samantha with Wolf Parkinson White Syndrome.   Due to this new diagnosis, they switched her calcium channel blocker to a beta blocker, as the calcium channel blocker is not something you should be taking if you have WPW.  Now, she is on propranolol for her autonomic issues. We aren't 100% sure she still needs something like propranolol as her autonomic issues may have been related to her respiratory crisis two months ago.  However, at this time we would rather play it safe and so far it seems to have lowered her sometimes high heart rate a bit.  For right now there is nothing to do for her WPW as she does not have any symptoms.  It is just something to keep an eye on and if any symptoms arise we will deal with it then.

Our 24 hour stay is scheduled to begin this afternoon.  That means for 24 hours Val and I will take over ALL of Samantha's care here, to include a trach change and vent circuit change.  As we are here all of the time anyway, we are assuming all will go well.  As I mentioned earlier, Sam is still dealing with the GI issues, so that has me a little concerned.  If we were home and all of this was going on we may have taken her in to a doctor or the ER--but we are already here.   Apparently if we have questions for the doctors during the 24 hour stay, that is ok. But if we need intervention (such as an IV), we would cancel the 24 hour stay and try again at a later time.  Postponing the stay by a day or two is not too big of a worry for me.  My bigger concern is our discharge this coming Thursday.  I really don't want to delay that if we can avoid it.  Hopefully all will go well and we will be home soon as anticipated.

Last night Samantha got a very special treat here in the hospital.  Val and I took our trach CPR class on Wednesday morning, which means we are now finally able to take her off of the floor by ourselves.  We were in the hall going towards the elevators last night when one of the nurses walks up to us with a big smile on her face.  She told Sammy she had a big surprise for her and directed us to the play room.  In comes three lovely musicians who serenaded Samantha with Bruno Mars, "Just the way you are".  While all of the lyrics didn't quite fit for a toddler, the refrain had Val and I almost in tears.

When I see your face
There's not a thing that I would change
'Cause you're amazing
Just the way you are

And when you smile
The whole world stops and stares for awhile
'Cause girl, you're amazing
Just the way you are


The playroom has glass windows surrounding it, and while Sam was watching her personal concert, all of the nurses on the floor were standing outside with smiles on their faces.  It was an incredible moment.  And, Samantha loved every second of it. She enjoys music so much, we were thrilled she got to experience something like that.


Until next time,


Monica

Another fast week....

We had another good week with Sam here in the hospital. We did our 5th trach change on Tuesday in a rush when we suspected she had a bit of mucus stuck in there.  We were scheduled to do it at some point in the morning but wound up doing it at 6 AM. Samantha was not happy to be bothered so early in the morning, but our suspicions proved to be true.  There was a bit of gunk stuck in there.  All was well as soon as we changed the trach.  Actually, she was still doing fine with the mostly clogged trach, which shows you just how much she needs it right now (not that much).

Sammy has been off of the vent for up to three hours at a time, two times a day this week. It is really incredible.  In addition, she has been upright more and more.  Samantha took her first independent steps since this crisis began this week.  Her labs seem to have calmed down for now, and she continues to talk up a storm.  

There is a new finding that has us a little concerned,  but we are hopeful it turns out to be nothing. The attending noticed that Sam's heart lead line looked "different" to him on the monitor, so he ordered an EKG. Samantha has had two previous EKG's during this admission which looked normal (as did her EKG this past summer).  The EKG yesterday showed an abnormality in her heartbeat (QRS is long).  As Sam is not showing symptoms, there is really nothing to be done right now but keep an eye on it.  We will consult with a cardiologist next week.   The attending isn't sure if this is just a symptom of her mito that may come and go, or if this is a side effect of one of her meds (he thinks less likely).  Again, Sam's doing fine right now, but of course, anything new leaves us just a bit worried--especially when it pertains to her heart. We shall see.

Samantha continues to amaze us with her sweet self, and we should be home in less than a week and a half if all goes well.  That makes us all very happy.

Until next time,

Monica

4th trach change for us complete

Val and I did our fourth trach change last night and it went really well, if I do say so myself.  We have to do two more and then take a CPR-trach class. Next up will be a 24 hour stay in the hospital where the staff does not help us at all and we do ALL of Sam's care by ourselves (including a trach change, vent circuit change, walk around the hospital etc).  After the 24 stay is deemed successful they schedule a discharge meeting and we are then "allowed" to take our girl outta here. Apparently we get to ride in style (ambulance) all the way home.

As I am here all of the time I have been doing the majority of Sam's care anyway, so the 24 hour stay doesn't scare me.  What does scare me is trying to figure out how to get everything "ready" at home.  In addition, we've had a bunch of showings at the house and a potential offer is coming our way.  Trying to buy a new house and moving so close after discharge should be a good time. Lots to do, to say the least.

In other news, Samantha continues to do really well. Her turn around has been nothing short of amazing.   I would say she is doing better than prior to her hospital stay in terms of energy and speech. Each day she says longer sentences and is remembering things that happened months ago--odd for even a typical toddler.  Heck, odd for me!  Sadly, I can't remember what happened yesterday.  Samantha still is not where she was in terms of trying to walk (very shaky and can't take independent steps), but I think that is to be expected.

Samantha continues to tolerate her short times off of the vent really well and is on CPAP mode while awake the majority of the time. She no longer has the weird breathing patterns (while off of the vent that I have noticed) that she had prior to the hospital stay. And, she doesn't have those odd "zone out" periods I was noticing prior to the hospital stay.

Sam is doing so well that at times I wonder if we rushed the trach decision.  Of course, I probably am forgetting (or more likely trying to forget) just how sick and weak she was just weeks ago. If we didn't trach when we did, we would have had to keep her sedated for even longer and there is no way she would be doing as well as she is right now.  Also, it is comforting to have the support of the trach/vent.  We can give her the support when she needs it, and allow her time off of the vent when she can tolerate it.  If she has a set back we can just adjust her vent settings and not have to worry about intubating/not intubating etc.  So really, there was no decision.  We had to do the trach, and we did, and it's been so great for her.  I think the g-tube has been very beneficial to her as well.  She can eat as tolerated, but we have the g-tube as a constant source of nutrition/hydration. There is no more fighting and pleading with her to eat, thankfully. As scary as all of her new "stuff" is, I believe it will give her a better quality of life and lots more energy--so that is a good thing.

Yesterday, Sam tried a Kimba stroller and she really, really liked it. Sammy was off of her vent and the respiratory therapist busted us out of our unit and we took the elevator to the atrium downstairs. She was so excited to be free and was smiling, saying "Hi" and waving at EVERYONE.  It was really sweet to see her so excited.  Although Sam has been semi-mobile, I always suspected that if she needed a chair of some sort she would be fine with it. The kid loves to be pushed around. And, the Kimba allowed her to be higher up (and sitting up straighter) than her regular stroller.  Hopefully we'll be able to get the insurance companies to agree that this type of stroller/wheelchair is what she needs.  Although it is heavier than I would prefer, with all of her new equipment it needs to be.  We can get it fitted with a vent tray, IV pole and o2 holder.  I hope she doesn't need ALL of that stuff all the time.  But we will need to take it with us "just in case", so it's good to have the ability to take it with us.

We are still paying attention to some things with Sam's labs, as she is still needing a bicarb supplement (which also doubles as a sodium supplement).  But otherwise it's been a good week and we are grateful.

We love the weekends around here because Val gets to be here with us and nothing makes Samantha happier than having both of her mommies around, spoiling her with attention, hugs, and snuggles.

Until next time,

Monica