Monday, October 24, 2011

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,


Sunday, October 16, 2011

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,


Tuesday, September 27, 2011

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,


Saturday, July 30, 2011

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,


Tuesday, June 21, 2011

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,


Friday, May 13, 2011

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,


Friday, April 29, 2011

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,


Wednesday, April 27, 2011

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,


Friday, April 22, 2011

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,


Saturday, April 16, 2011

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,


Friday, April 8, 2011

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,


Sunday, April 3, 2011

More forward progress...time off of the vent.

Samantha continues to make some improvements while in the hospital. She had a swallow study this past week and did really well with soft foods and thickened liquids.  She aspirated (and coughed back out) a trace amount of thin liquid when she took a big swallow.   For now we can have her eat most things if she is interested (with the exception of thin liquids). She can still have thin liquids from a spoon in very tiny amounts--just not big swallow. Of course, it seems the novelty of food has worn off and she seems content with her g-tube feedings for most of her intake. We are happy that she CAN eat if she wants something. And, we are so proud of her for being so agreeable during the swallow study.  Samantha really hammed it up and seemed happy to be there.  It helped that we had an entire room full of people cheering for her after every bite/sip.

Her speech continues to improve and each day she spends time standing and cruising. She is still way too shaky to take independent steps, but we are really happy with her physical progress.

Yesterday we had a scare with her g-tube. It popped out during a feed and formula started pouring out of her belly.  Yikes.  I was laying in bed next to her and when I went to get up somehow pulled on the line and it came right out.  I was horrified as it isn't a very "old" g-tube, only 5 weeks or so.  The nurses claimed it wasn't my fault as the balloon looked really mangled.  They reported the incident to the manufacturer.   However, my mommy guilt kicked into overgear and I felt really bad about it.  They were able to get a new tube in, but that's probably not the best way to do the first g-tube change.  So far the new g-tube seems just fine, thankfully.  As surgery is technically supposed to do the first g-tube change, I am hopeful they will come by at some point to take a look.

Last night for the first time Sam did a "sprint" off of her vent for about 40 minutes!  We were going to try for an hour but felt that after 40 minutes she seemed a little tired and winded.  Plus, her coloring didn't look as good. However, she didn't desat and her heart rate stayed about the same.  All in all it was a very good first try, and we are happy.  We probably pushed a little too hard as we were letting her stand up and play for the first 30 minutes.  For the next few days if we think she is ready we are only going to try for 30 minutes and see how she does.  Also, the team is going to monitor her weight very carefully and if she doesn't gain or actually loses weight we may back off of the sprints for now.  We will go slow and always have the option of cutting back.  In any case, it is very comforting to know that she can spend SOME time off of the vent.  We will take it, as always, day by day and adjust as needed.

Val and I did our third trach change this morning and all went well. Samantha doesn't really like them, but she tries her best.  We are shooting for discharge at the end of April and are very, very excited to be so close to going home.  It's been such a long admission, and as Samantha gets stronger she seems less able to sleep in all of the chaos that is the hospital.  Hopefully these next few weeks will go quickly.

Here is a cell phone pic a friend took of Samantha last Sunday. Sammy was demonstrating how to wash her hands. That's my girl!

Photobucket Pictures, Images and Photos

Until next time,


Sunday, March 27, 2011

Mac and cheese, Pudding, and no rate on the vent....

Samantha has been having a great time this past week, continuing to charm all of the staff here. She has been talking more and more each day.  In fact, I can't be certain, but it is possible that she is doing better with her speech than prior to her hospitalization.

Val and I did her 2nd trach change this morning.  We have 6 to do and then need to do a CPR class and a 24 hour stay.  The 24 hour stay at the hospital just means that for 24 hours we will do ALL of her care without help from the nurses.  If we pass the "test" and she is medically stable, we are free to go as long as our house is deemed safe and we have our nursing coverage squared away.  We are hopeful we can get everything taken care of and be home within the next month.

Speaking of home, Val and I are realizing that we most likely will be going back to our current house in Lansdale. While Val hates the commute to work (and worries about  being so far from us during the day), trying to sell and buy a property on a tight timeline is just not possible in this housing market. We will keep our house on the market and hopefully sell soon enough. And THEN we can look again and find something that best meets our current needs.

Samantha has been trying food for the past several days. She is allowed thickened liquids and soft foods.  So far she has enjoyed pudding, mac n cheese, and the occasional sip of chocolate milk.  We've been giving her tiny little bites, and she seems fine.  Within the next week she will have a swallow study just to confirm she is not aspirating anything into her lungs.

One new symptom is that she is losing bicarb so they are supplementing that for her.  They are not sure if it is just a symptom of her mito or if it means she is being over-venalated.  To test the over-venalation theory, they have been lowing her vent settings a little here and there.  Today for the first time they took away her breath rate completely. That means that Samantha is initiating all of her breaths. She still has some pressure support of 8 and a peep of 5, but that is it.  We are still going to bump up her rate to 10 while she sleeps.  But, she happened to fall asleep today without her breath rate and I waited a minute before calling the nurse as she was still doing fine in terms of breaths per minute.  When the nurse came in we were discussing how it doesn't quite make sense that she doesn't need a rate right now.  But, so far today it seems she does not. We allowed her to take the entire nap without a rate. We may trial her off the vent within the next week for short periods just to see how she does.

All in all, she had a pretty good week.

Until next time,


Wednesday, March 16, 2011

Tummy is a bit better :)

Samantha seems to be adjusting well to the new formula and lack of miralax.  Other than an early morning puke yesterday (which may be related to overnight feeds), she has been tolerating things well.  She had a gastric emptying scan on Monday and it did not show anything other than a little bit of reflux.  Her stomach finally looks like hers again and she no longer looks like a balloon.  She had a bowel movement after a suppository this morning and it actually had some consistency to it.   I hate to even type a positive stomach report as I don't want to jinx anything. But for right now stomach issues are better. And, that is a good thing.

Samantha continues to do well with talking. She has tolerated the speaking valve for a couple of brief trials. I am not sure it makes her talk any louder.  But, it may help with trying to eat by mouth later on. So, we will continue to try it.

They are starting to slowly wean the vent settings, which I am concerned about.  I know technically it is a positive step, but I do worry that her "numbers" don't always show the true picture for Samantha. And as she is not QUITE herself yet, I may miss some of Sam's signals that she may not be tolerating the wean well (or perhaps I will attribute something to the wean when it may just be her being tired.)

A few weeks ago her numbers  (o2 and CO2) looked fine a couple of days before she went into respiratory failure.   Hopefully, I will be able to tell if things aren't going well with the wean. And, it is best to try it here rather than when we are outpatient.    It may seem odd that I am wary of lower vent settings. But, as we already went through the trouble of placing a trach, I'd like to use the support of the vent if she needs it (mito is a disease of energy, and the vent spares her some) while she recovers.

Sam had her 2nd trach change yesterday and Val and I watched rather than participate as we didn't feel ready yet. We each need to take out, and place three trachs.  It is difficult to know that I don't have the skills to keep my child alive right now.  But,we hope with time all of this will become second nature and Val and I will be experts in trach care.

In summary, things are going as well as they can right now.  Sam is finally warming up to some of the nurses and hamming it up a bit for them, which is nice to see. She still hates trach care, and I can't say that I blame her.

Until next time,


Friday, March 11, 2011

Squeaking out some words, and some GI blues...

We have all moved to the PCU section of floor 7 here at CHOP.  It seems a little more calm than the PICU. But, otherwise, we are still in the hospital and wanting to be home.  I've dabbled a bit in some trach care the past two days. It is daunting and scary, but I'm hopeful that with time both Val and I will be old pros at it all.

Samantha has been mostly good with one bad thrown in....

Let's talk about good first.  :)

One good is that she is getting some air past her vocal cords and is squeaking out some words. She usually can get a syllable or two out before her little squeak of a voice poops out on her. But, it's sound, and it's hers.   I'm sure with time and perhaps a speaking valve she will continue to improve her speech.  We will also most likely get a communication app for our iPad to help her while she is regaining her speaking voice.  Perhaps we will even teach her some simple signs to help her along.

Yesterday, we ventured into the play room for the first time in her stroller.  It was so great to see her sitting up. Sam is still on some heavy duty drugs. They are weaning the narcotics slowly to avoid withdrawal symptoms. Between the drugs, all of the laying around, and her original motor issues, she is a bit wobbly when trying to be upright.  But progress is definitely being made.  The PT yesterday had me stand her on her bed and she was able to put some weight on her legs.  And, what did she do one she was upright?  The little sweetie, while standing, reached out and gave me a big hug.  Yes, I had tears in my eyes.

In general, she has been much more awake and squirmy while in the bed. And, she has been dazzling her visitors with that adorable smile of hers.

So yes, lots of good is going on.  There is just one problem....

Her GI system does not seem to want to cooperate with, well, we aren't sure. When they run feeds through her G-tube she is distended and very full of gas.  She HAS been passing stools once a day with the help of miralax, colace and the occasional suppository, but they are completely liquid.  Occasionally she has been throwing up her feeds, usually in the morning.  Her labs seem fine, each time they run them. The doctors aren't sure what it is (meds, formula, hospital fear etc)

When she came into the hospital a month ago (yes, today marks a month inpatient), she was eating and drinking by mouth. She didn't always eat as much as she should.  And, she would sometimes go a few days without a bowel movement, but otherwise was ok in terms of GI issues.  She never had formula in her life.  The little stinker never took to a bottle so I just breastfed her until it was time to start eating foods. But, she never had any allergies to food and handled milk, cheese etc fine.

We talked with the GI attending today who agreed to try a new formula for the weekend, Elecare. We are starting it slow and will cut out her miralax.  They had upped her miralax to the max dose while inpatient and perhaps that was just too much for her belly?  We will add suppositories to help with movements.

They plan on doing an emptying scan next week to see if she has delayed gastric emptying. As she just got the G-tube two weeks ago it is too soon to turn it into a GJ tube (for those who don't know, don't ask...I'll explain later if needed). Frankly, I'd like to hold off on any more procedures if we can. I keep thinking this is a g-tube/formula/narcotic issue more than a stomach issue. But, perhaps that is wishful thinking.  I know that mito kids can and do have severe GI issues.  I was just hoping that Sam could escape that for the time being since she has so many other new things to worry about at the moment.  Not to mention, I'd like to try to see her eat regular food (by mouth) before we assume she can't.  Kids with trachs can eat as long as they can swallow safely.  Hopefully we can also do a swallow study and if she is safe to eat certain textures perhaps we can use the tube for supplementing/meds only.

One comment the GI made struck me today.  He mentioned that perhaps Sam always had slow motility but had self regulated her food intake (aka, didn't eat enough) to deal with it.  Once she was in the hospital (and not moving as much and taking lots of narcotics), it might have made an already slow system even slower.  I will concede that his theory may make sense. But I think I, and Sam need more time before we do any other medical procedures.  I want to make sure we aren't moving too fast.

In summary, lots of good with the exception of GI issues.

As always, thanks so much for all of your thoughts, prayers, and vibes.  They are always appreciated.

Until next time,


Tuesday, March 8, 2011

First Trach Change complete

The past week  has been for the most part, uneventful (as compared to weeks prior here in the PICU).  Sam has had a little redness around both her trach and her g-tube stomas.  In addition, she seems to be struggling with much gas/stomach distention.  No one is really sure why her tummy is so distended.  There are so many "new" things going on, it is hard to determine what "new" thing it is causing the issue. She is new to formula feeding.  She is new to her g-tube, her trach, and meds such as morphine and valium.  I'm hopeful the stomach distention is due to the temporary meds, as that will be the easiest thing to get rid of...but only time will tell.

I can't believe it has been a week since Samantha's trach surgery, but it has.  This afternoon was her first trach change, which is a big milestone for Sam, and for us.  Now that it has been changed, hopefully Val and I can begin doing more with Samantha's trach care.  In addition, Sam will be able to move to a portable vent which means she may be able to take rides around the hospital and get out of her bed.  Finally, we may actually be moving out of the PICU into the PCU.  A change of scenery will be nice--even if it is on the same floor.

When they changed her trach today they put a smaller trach in which is a good thing (as long as she continues to tolerate it, that is).  Smaller trach means there can be air flowing up past the trach site to Sam's vocal cords.  You need air to pass your vocal cords in order to make sounds.  This past week Sam hasn't been able to make any sounds as her trach fit too snuggly.  At first she was trying to mouth her words but then realized she wasn't making any sounds.  The past few days she has not tried to mouth words very often.

After they changed her trach today I did hear some noises come from the little sweetie.  It didn't necessarily sound like much, but any sound is a good sound to us!  My hope is that as she moves further away from her surgery, her swelling will go down and hopefully she will be able to vocalize more.  In addition, they have special valves they can place on the trach to allow for kids to speak a little better.  With time we are hoping she will be back to her chatty self in no time.

After we move to the PCU, we will begin our trach training.  Depending on who you ask, it could take anywhere from 4-8 weeks in the hospital.  In addition, Val and I are considering moving during this time to be closer to the hospital and Va's work.  Needless to say it will be a time of great transition no matter where we end up living.

Prior to going to the hospital we had our house on the market, but we took it off the market when we went into the hospital. We want to put it back on the market, but we are trying to figure out where to put our cats while we are here in the hospital.  We don't think showing a house with two kitties roaming about on their own (to track litter and food without mommy's watchful eye) would be a good thing.

Despite the great changes we are going through, we continue to have much support from our family and friends.  Sam continues to get plenty of visitors, and Val and I continue to have plenty to eat.

Thank you again to everyone for everything.  We could not do this alone.

Until next time,


Wednesday, March 2, 2011

She is smiling again....

Samantha is smiling, and imitating, and mouthing words and being silly.

We are loving seeing our girl look more like herself than she has in weeks.

She is my hero.

Until next time,


Tuesday, March 1, 2011

Surgery complete--very brief update

Samantha's surgery went, according to her surgeon, "as well as it could possibly go". She was actually awake for a bit when they brought her back to the PICU and did not seem to be in too much discomfort. She is resting peacefully now. It is very nice to see her face again (without all of the tape of the breathing tube).

The next week will be spent in the PICU, letting Samantha heal. And, her first trach change will be done by the ENTs. After that we will move to a step-down unit and the training will begin. Val and I are ready to start learning about trach care so we can go home.

Thanks as always for all of the support, kind words, and prayers.

Until next time,


Monday, February 28, 2011

Trach surgery most likely tomorrow

We are still in the PICU with Samantha (2 weeks and 3 days for those who are counting).  A couple of days ago they tried weaning Sam's vent rate down, and each time they tried, her CO2 levels went up.  At this time the doctors do not feel comfortable trying to remove the breathing tube.  Val and I have therefore made the decision to go ahead with the trach surgery.  The trach will give Samantha a ton more freedom that she has now, and will hopefully free up some energy that she had been using to fight to breath for the last month or so.

Currently Sam is an "add on" tomorrow and the schedule is light.  We assume the surgery will happen at some point tomorrow, we just are not sure what time.

Once the surgery is complete we will need to spend another 7 days in the PICU followed by another 5-7 weeks in a step-down unit, learning all of the things we will need to learn in order to take home a child with a trach.  Val and I are hopeful that our overachieving selves will become comfortable with trach care in no time, so that we can all be home again.

We never know what the future holds. Although Sam needs the trach now, there is always a possibility she may not in the future, depending on how things go with her trial drug.

In the meantime, we will continue to laugh and smile and play with our adorable little girl.  Her uncle Richie had her smiling and "Raising the Roof" today with her arms, despite still being on some generous narcotics.

Thank you again to everyone who has been so kind to us during this difficult time.

Until next time,


Friday, February 25, 2011

Brief update

Samantha's g-tube surgery went well yesterday despite being delayed until about 5 PM. She was just started on 1/2 feeds to see how she tolerates them.

Last night she had her central line in her neck removed. And while I am glad it is gone because there is always risk for infection, blood draws now mean extra sticks again for Sam. She is still semi-sedated due to the breathing tube, so perhaps she won't mind the sticks as much.

As for the breathing tube, the plan is still the same. They will try to wean her. If it seems she is unable to we will schedule a trach surgery for sometime soon.

As always, we plan on taking it one day at a time.

Until next time,


Wednesday, February 23, 2011

G-Tube Surgery Tomorrow

We are still in the PICU and will most likely be here for a little while longer. Samantha still has her breathing tube in place.  Sam's been extra sedated today as we have noticed that she has trouble sleeping with the breathing tube.  Her heart rate is a bit higher than we like, although we aren't sure why that is. When she is awake, she has a look of either disgust or fear on her face.  My feeling is that she is sick and tired of being in the bed, and in the hospital.  I can't say I blame her.

Tomorrow afternoon, barring any complications between now and then, she will be getting her g-tube surgery.  For friends and family who do not know what that is,  I like to think of it as a life line for Sam.  It will be a small little button in her stomach that we will hook up liquid foods to for Sam.  She isn't always able to eat or drink enough and therefore she has fallen off of the weight charts for her age/height.  In addition, we have noticed her choking more often (especially when sick).  Finally, kids with metabolic disorders need more fluids/calories than a typical child would.  All of these things combined equal a recipe for disaster without extra supplementation now and then.  Our hope is that Sam will still be able to eat by mouth (perhaps only certain textures) and we will use the tube for supplementation and her medicines.  I admit that getting her meds/supplements into her has not alway been easy. So, at the very least I hope she is happy about not having over a dozen meds forced into her mouth each day.

The current plan is for the breathing tube to stay in for at least several days after her g-tube surgery.  At some point we will try to remove the breathing tube and see how she does without it.   If Samantha is unable to do well without the breathing tube (or with something like bipap) we would then move toward something more permanent--a trach.  However, that is a few days, and many decisions away.  For now I'll just focus on her surgery tomorrow and hope it all goes well.

Until next time,


Tuesday, February 22, 2011

Day 11 of PICU stay....

I apologize for waiting so long to update, but I was hoping that we would be out of the hospital much sooner and wanted to update when we were home. Unfortunately it seems it may be a while before we are home again. So, I will try to summarize as best I can.  (Please assume I am forgetting various things as it has been a long and stressful 11 days.)

In my last post I mentioned that Samantha was not doing well and we had a pulm  appointment for the next day due to a change in breathing patterns.  The pulm appointment came and went and a sleep study was recommended and scheduled for Sunday night. The pulm noted that Sam's lungs were clear and her o2 levels were fine. That was Wednesday.  By Friday I was growing increasingly concerned about Sam.  She hadn't walked since Sunday. She was lethargic. Her breathing continued to be labored.  And, she was having episodes of "zoning out".  I called both her metabolic doctor and neuro on Friday morning.  They both called and discussed my growing concerns and felt that an admission was necessary to get things sorted out.  In addition, her metabolic doctor felt that the PICU would be a better place to observe Samantha due to her rapid changes.   On Friday night we finally got a PICU bed. The next few days were spent bothering Samantha with various tests such as an EEG, a sleep study, blood draws and a bipap trial.  Sam also earned herself an NG tube for feeding when she choked in front of the speech therapist.  

The 24 hour EEG did not show seizure activity. The sleep study on Sunday night showed central apnea but they did not feel it was severe enough to warrant bipap at that time. Sam's lungs continued to be clear. Val and I were happy that there were no seizures and breathing support was not necessary. However, we were growing increasingly concerned about how Samantha was acting.  She was not herself, and was getting worse.  We weren't sure if it was the environment she was in, or if there were something else going on.  On Tuesday morning Sam woke up sweating profusely and her heart rate had been climbing up into the 150s.  Her blood pressure was 168 over something (sorry I forget the exact number, but it was HIGH).  Labs showed that her sodium level had dropped to 117, and the decision was made to place a line so that they could continue to monitor sodium while infusing large amounts of sodium into Sam.  The team attempted to place a line into her groin area but was unsuccessful.   They came out of the room and explained they would have to intubate Samantha in order to place a line in her neck.  

Despite her sodium levels going up, Samantha continued to struggle after Tuesday. Her blood pressure was controlled with medication, but her heart rate was slowly climbing.  She was refusing sleep.  She was not herself and was not very interactive. Sam seemed miserable and out of it and we were not sure what was going on. By Thursday night her o2 level was dropping despite her lungs still being clear.  She was still fighting sleep but her sats were going up with the o2.  First they used one liter, then two.  By Friday morning she needed bipap and the team had a discussion with us about what we wanted to do if she were to go into respiratory failure.  We let them know we wanted them to insert a breathing tube if necessary to save her.  For a few hours she seemed to do ok on bipap.  But all of the sudden, her o2 sats dropped dramatically (the lowest I saw was 12) and the team went into action to intubate her as she went into respiratory failure.  The intubation was successful and finally Sam was able to get some rest on Friday after not sleeping for days.

On Saturday Sam finally woke up from the sedation while still intubated and it was the first time I saw "Sam" in days.  She seemed to be herself despite being slightly sedated and unable to talk. We had as good a weekend as you can have while intubated.  She was communicating by waving/raising her hand when she wanted something.  It was very nice to have Sam back with us, even though she was breathing through a tube.  I was very happy to know that her previous change in cognitive status was a result of her exhaustion earlier in the week.

Val and I have noticed as the vent settings are lower, Sam seems to be losing strength/interest again. But for now the goal is to try to remove the tube and see how she does.  Her numbers on the vent are good enough to remove the Breathing tube, but the team is waiting to see when her g-tube surgery (we feel a g-tube will be great for Sam going forward as it will allow her to get nutrition/supplements when needed and help with her energy/weight issues) will happen before they make a decision to remove it.  If the surgery will be tomorrow, the tube will stay in today.  

Needless to say that when we entered the PICU on Friday we did not suspect Sam would be going into respiratory failure the following Friday.  We are very grateful to the PICU team at for saving our little girl.

Throughout this stay, our friends and family have been amazing and wonderful.  Both Val and I have large families, and I suspect that Sam has had more visitors than anyone else in the PICU. Our laundry is getting done. Food is being delivered.  We know that if there is anything we need, a simple phone call will have it to the hospital within hours. In addition to family, many, many friends have offered support in a variety of ways.  It has been nothing short of incredible and Val and I are so very grateful.

So, thank you to everyone. 

At this time things with Samantha continue to be uncertain. We suspect her breathing issues are a result of disease progression, but we are not certain if it is something she will bounce back from or if she will need ongoing respiratory support.   Val and I will utilize any and all medical interventions to get Samantha stable and home as we feel cognitively she is still very much with us.  We suspect we will be in the PICU and the hospital for a while longer. But, obviously we hope our stay is as short as it can be.

I will update more when I can.  Thank you again to everyone who has offered assistance, calls, notes, texts, emails, thoughts, kind words, and prayers.

Until next time,


Tuesday, February 8, 2011


Samantha has been struggling these past two weeks and we are not sure why.  It started with a change in breathing patterns while sleeping about two weeks ago.  At first all we noticed was the breathing changes. Although that is worrisome in and of itself (and we immediately alerted as many of her doctors as we could/set up a pulmonary appointment etc), the first few days it was going on she still seemed to be her typical self.

However, slowly but surely she has become more and more lethargic.  She has just about refused to be mobile these last few days (actually, I think she has refused outright the last two days but she did walk about 8 steps on Sunday night to get to her cousin). Not only has she not been walking, she isn't crawling either. She just sits.  She talks in a whisper constantly, and also seems to zone out a lot, especially after eating. 

Samantha hasn't been sick as far as we can tell. She has no fever or anything like that.  But something is obviously very wrong with our little girl.  Sam's still the same as far as cognition/language (with the exception of whispering rather than talking), so that is a positive.

We have a pulmonary consult tomorrow at CHOP to discuss the breathing issues. And, she has several more appointments coming up as well this month. Sam will also be getting a sleep study done at some point soon. Val and I just aren't sure what is going on or what we should be doing NOW, if anything.  It has been very scary to watch her go downhill so quickly.

The truth is that this may just be disease progression and there is nothing to do for now but wait and see if things improve again.  Or, perhaps she may need some type of assistance in terms of her breathing issues.  (And perhaps that will help with the obvious energy issues she is struggling with right now.)  Or, maybe we are missing something entirely and one of her many doctors will assist in a way we aren't even thinking of yet.

We just don't know.

Hopefully we will get some good insight during our appointment tomorrow at CHOP. 

Until next time,


Sunday, January 16, 2011

3 month follow up with metabolic/genetics doctor

Samantha had her three month follow up on Friday with our local metabolic/genetics doctor.  This is Dr. Falk, the doctor who first mentioned Leigh's disease a week or two before Sam's gene mutation was found (thus confirming the diagnosis).   Dr. Wallace also sat in on the appointment (he is a top mito researcher who is now working at CHOP) so he could meet Samantha as well.

The good news is that the doctor felt in general that Sam was doing really well.  Sam talked more in the appointment than last time and even took some steps for the doctor and her assistant Emily.  The bad news is that Sam's weight is not going up like it should.  She is still growing (height), which is good. But the doctor is concerned that if her weight continues to be stagnant, it could be a problem at some point. So, to be proactive she'd like us to be in contact with a GI again to discuss ways to help Samantha gain weight. She's a picky/small eater on a good day. Being a small eater combined with a metabolic condition (she may burn more calories than most kids despite not being very active) is a double whammy and makes for a very tiny kid.   I felt like Sam was doing well with weight a couple of months ago, but she was sick a few weeks ago and prior to that just wasn't eating as much. So, she may have lost a little then. We stopped her carnitor a few weeks ago and her eating has increased some.  So for now we'll keep away from the carnitor and contact a GI to see what else they may suggest.

In other medical news, my preliminary blood test has come back as negative for the mutation that Sam has.  Apparently it is pretty rare for these mutations to be new and not inherited (Dr. F and Dr. W discussed that 1 out of 200 mutations they find in cases like Sam's are "new" mutations).  They are going to re-run a more sensitive version of the test on my blood once my insurance approves the test.  However, I wouldn't be surprised if it is new mutation in Samantha only because her condition is pretty obvious now and she is so young.  And, her blood level was only 14%.  I'm 38 and have never shown any symptoms. So even if I did have it, it would have to be practically non-existant as her mutation has been shown in previous studies to be pretty potent even at low mutant loads.  On Thursday they also collected saliva and urine from Samantha so that they can also run tests on those tissues to see what the percentage is in them. It is assumed that Sam's brain tissue would have a higher percentage than her blood--but we aren't going to do a brain biopsy,  obviously.

As a mom, I had very mixed feelings about getting tested for the mutation.  The same mutation can also cause MELAS (which can present at any age). So, if I did/do have the mutation I'd be at risk for developing MELAS at some point. Also, if it "runs" in our family I'd then worry about my nieces and their future kids.  As Val says, it's a good thing for me not to have it.   But, part of me had come to terms with this mutation being maternally inherited.  It feels weird for me to know that Samantha has something that I somehow escaped.  I talked with the doctors on Friday about how these things happen and asked if it was something I did at some point to cause this.  Of course I knew the answer was no, but I had to ask anyway.  And yes, the answer is no. They really don't know why or how new gene mutations happen.  It could be something that happened in some of my eggs (that were formed when I was formed way back 38 years ago).  Or, it could be something spontaneous that happened while Samantha was being formed.  They just don't know.

Speaking of not knowing....I think that will be our theme with Samantha going forward.

When you get a diagnosis like Leigh's Syndrome and then you rush to research and learn about it, you read some pretty scary statistics.  As a parent, you want to try to prepare yourself for things before they happen as much as you can. But the truth is we can't prepare because we, and the doctors just don't know what is going to happen (either positive or negative).  The doctors both stressed on Friday that Samantha is an individual and her condition is HER condition so we really can't and shouldn't compare her to anyone.

We'll continue to take it one day, one word, and one step at a time with our sweet little one.  In addition to getting pretty good at speaking, she's also developing a quite a sense of humor.  She makes us laugh daily, and that's always a good thing.

Until next time,