Autonomic Dysfunction and International Relations

What a difference a week makes…Last week was filled with a trip to the DuPont ER, a sick visit to our pediatrician, several stops to our local pharmacy,  a lot of sleepless nights, worrisome days, a really “good” appointment with a new doctor at DuPont, all of our usual activities minus Lucy’s  music class and therapies, and ended with our little red head covered from head to toe in some sort of viral rash that made our usually pale looking girly look oh so uncharacteristically colorful.  Conclusion, Lucy probably had Roseola, a common infantile virus, that caused her high fevers. However, nothing is common when it comes to kids with mito.  These fevers caused her heart rate to soar which caused her body to be even more exhausted than expected. This exhaustion  contributed to her decreased motility which resulted in her being uncomfortable and not wanting to eat.  On top of the Roseola we discovered that Lucy had strep bacteria, this time in her throat not her g-tube site, which resulted in us adding an antibiotic to her list of medications. This in turn has caused her to have some pretty nasty diapers this week.  There was also some concern that Lucy had some sort of  pneumonia because her chest film showed infiltrate in her right lung.  We now think that she had another aspiration pneumonia due to the fact that the infiltrate was in her right lung(this is where aspiration pneumonias are found) and she had no typical viral pneumonia symptoms.

Now a week later, Lucy is feeling much better.  She is sleeping better(by Lucy standards) and back to eating her Cheerios again.  We are almost back to her “normal” feeding schedule, she is still experiencing some discomfort when we are running her feeds for long periods of time.  I am hoping that when she is done with the antibiotic that this discomfort will resolve.   The one issue that we have noticed with Lucy post illness is her body’s inability to regulate her body temperature.  She has swings in her temps from over 100 degrees down to 94 degrees, autonomic dysfunction is so bizarre.  She is not acting sick anymore, but is more tired and irritable than usual.  I can’t even imagine how her body feels on a daily basis, of course she does and she just goes on! 

I have to admit that I too am more tired and irritable than usual, but life goes on and on it goes....  About a month ago I was asked if I could cook a Japanese dinner for some Japanese associates that were coming over to work with my husband and a group of his colleagues.  Being raised by a Japanese mother who taught me the virtues of being a good host, I agreed.   Yes, it was a lot of planning, shopping, house cleaning, and preparing.  Looking back I’m not sure how we were able to do it… it was in many opinions a huge success!  I think I impressed the Japanese associates with all of my Japanese accoutrements and cuisine.  One of them told the translator to tell me that I made better sushi than his wife.  I told the translator to tell him that I ordered the sushi.  She said she would not tell him that,  she said lets just keep that between you and me, and told me that I deserve to take credit:). For me it was a HUGE accomplishment to pull off the event, especially considering the week we had and the very few hours of sleep we were working with.  My dear friend Dianna came to my rescue on Monday afternoon(party planning is her thing), realizing that I could probably use an assistant, and also she was a bit nervous for me.  She knows that I very often have to do all of my work with one hand because my other is holding a baby.  Without her, I’m sure I would have been struggling to get everything done in time.  My friend Beth helped out as well,  running around for me on Monday getting many of the last minute items and cleaning 3 lbs of snow peas, I’m pretty sure that she will not be preparing snow peas anytime soon.  Drew told me that many of his work associates thanked us over and over for hosting, adding that it helped to build relations between the Japanese and Americans.  I am happy to have had a role in international relations; however, I think I will retire from international relations for a a while and focus on getting back to “normal” domestic issues, whatever those may be.

Getting better but still not great…

Lucy’s fevers have come down, she continues to hover around  100.8 to 101.2 degrees.  Motrin is working beautifully to bring the fevers down, but now it is her belly that  is acting “off”.  She is not interested in eating any Cheerios, she even put one in her mouth only to take it right back out…so uncharacteristic  for our little Cheerio addict.  When speaking yesterday with Dr. R, the diagnostic referral doctor, he was not at all surprised that she was having slower motility.  Her body is busy fighting off whatever bugs have invaded her, and the limited energy that she has is being reallocated for her current needs.   We have switched her feeds from being 22 hour continuous, to being a few hours on and a few hours off.   I have cut back her feeding rate in hopes of keeping her nourished and hydrated, but  also more comfortable.  Since we made this change to her “normal” feeding schedule we are checking her glucose regularly to ensure that we don’t have it fall too low.  Continuous feeders, like Lucy, don’t experience the ups and downs in their insulin levels because they are constantly receiving nutrients.  Their bodies don’t know how to dip into their glycogen storage because of this, thus they are more  prone to  having their glucose drop too low which could put her into crisis.  As long as Lucy continues to receive enough nutrients, her glucose stays within normal limits, and she continues to wet her diapers we feel comfortable with this feeding schedule.  I did turn her pump back on this morning at 3:00am and she has been running ever since at a slower rate, but continuously…so maybe, just maybe, things are improving (I wrote this at 8:30am, but am just getting around to posting it at 9:30pm).

Our appointment with Dr R was what we hoped it would be.  He is a specialists who takes on complex cases such as ours. He is willing to be Lucy’s doctor for whatever needs she has.   He can coordinate her care between specialists in the DuPont system and try to coordinate her care with her CHOP doctors as well, I say good luck with that one.  If and when she gets admitted to the hospital he could be her main doctor, thus eliminating all of the interns, residents, and fellows.  At this point we are trying to cut out some of the doctors in her life, no offence to any of Dr. F’s med students who read this, but the fewer docs the easier for us.   He is very knowledgeable about mitochondrial disease he even attended the UMDF’s conference last year, but is not a “mito specialist.”  He does have a very good relationship with Dr. Shoffner and consults with him on many of his mito patients.  In fact, he is going to contact him this week  in regards to some of  the tests that are still pending from Lucy’s muscle biopsy, in particular her genetics testing.  If, and this is a BIG if, they are able to find the genetic mutation that is causing Lucy’s disease than we may be able to test our other kids blood to see if they have or carry the same gene mutation.

I have not written much about this, but we have our suspicions that Sophie is affected with a milder form of the same disease.  Sophie was diagnosed with failure to thrive when she was six months old, but at around eighteen months she recovered, well I might add.  She was always on the late end of the developmental spectrum, but never “delayed”.  She didn’t start talking until she was closer to two and has not stopped since!   Sophie struggles with chronic constipation and bloating, this is affecting her/our daily lives but we manage.  Dr Shoffner felt that in addition to all of Lucy’s issues, having two babies diagnosed FTT was even more compelling evidence to test for mitochondrial disorders.  To be honest, I am afraid to find out our genetics, but knowing would be beneficial.  It would allow us to test Sophie without having to do a muscle biopsy.  Because of the complexities of this disease there are varying degrees of severity, no two patients present the same even when they have the same genetic mutation. 

Our world has not been the same since Lucy was born…actually since any of our kids were born.  

Just a quick update…

Lucy is still experiencing fevers, not as high as they were, but still over 101 degrees.  I brought her in to see our pediatrician this morning and honestly she looked better while were there then she had all weekend… go figure.  I had given her Motrin at 6:00am and her fever was still down at 10:30 when we arrived at her office.  After looking her over, her ped and I felt relieved that even though her chest x-ray was indicating some sort of viral pneumonia, her lungs sounded clear and she was breathing normally.  The only new symptom that Lucy developed since Sunday was a goopy sounding throat,  she kept sounding like she needed to cough to clear her throat…of course she doesn’t and at times this can drive a mama crazy.  On a whim our ped did a throat culture, sure enough she tested oh ever so faintly positive for strep.  This is not what has been causing her fevers, this is just something new in addition to the viral stuff she has had going on.  She prescribed an antibiotic to fight the strep and told me to let her know if anything changes.  On our way home we stopped to pick Sophie up at Alicia’s.  While there, Lucy wanted to get out of her seat and play in the playroom.  I could tell her fever was coming back and that she was weak as she was walking diagonally into things.  She came over to me after a few minutes with this very worried look in her eyes and very distinct odor coming from her diaper, diarrhea.  This is something new that we haven’t had to deal with in almost a year.  Whenever we get asked when Lucy’s last BM was by some medical professional Drew and I always have to think back about a week sometimes longer, their expressions are priceless.  These are the moments when I realize that our normal is not the norm.  She has had several surprise diapers this afternoon and evening and has been crying out in pain.  We think that her belly is hurting her, she is keeping her legs tucked up when we hold her and doesn’t like it when we move her too much.  Much to our surprise, her g-tube site is also looking pretty red and irritated tonight, poor girl.  It looked pretty good this morning so I’m not sure what is going on with that, I drew a circle around the redness and if the redness has grown by the morning I will give or ped a call and let her know about this and the other things.  We are scheduled to see the diagnostic referral specialist tomorrow afternoon at DuPont, this appointment was rescheduled from last week due to the snow.  Nothing like making a first impression.  Tomorrow’s another day…who knows what it’ll have in store for us.   

Happy Valentines Day?

Love, not the romantic kind that one typically associates with Valentines Day more like the kind of love you have for your child when they are sick and worrying you so, is in the air at our house.  It is our littlest cupid, the one with the red hair and beautiful blues eyes, that is weighing heavy on our hearts.  Lucy is sick, she has been acting “off” since Thursday.  By Saturday night she was hot, irritable, and just plain miserable!  Her pulse-ox and heart rate monitor kept alarming all Saturday night.  At first when I heard the alarm I thought the probe had  fallen off of her foot since it just kept alarming and wouldn’t stop.   I was very surprised to see that it was alarming for accelerated heart rate.  Normally, she de-sats and the monitor alarms for a minute or two because she has aspirated her saliva, and then it stops alarming when she has cleared her airway.  She is experiencing very high fevers of 104 plus degrees, which is most likely the reason for her accelerated heart rate.  One of our concerns for her is how long can she endure this before it just wipes her out?  Kids with mitochondrial disease are energy deficient, her body just doesn’t have any extra energy to spare.

We watched and waited all day for any signs of improvement in her, and after seeing none I finally called our pediatrician after dinner last night.   I waited to call her until after we ate our “Valentiney” dinner knowing that an hour was probably not going to make a huge difference in ER wait time, and also  I didn’t want to disappoint our other kids.  There’s something special about eating food shaped like hearts on Valentines Day that you just can’t pass up.  I knew that she was going to tell me that we needed to take Lucy to the ER to try figure out what’s going on with her.  This is  just how we have to treat all illness with Lucy.  Unlike most children, any illness for Lucy can be detrimental.  Lucy and I both took a long afternoon nap yesterday since we had been up most of the night before,  I was oh so grateful to my husband for allowing me to do this since we ended up spending most of last night in the ER at DuPont.  I just feel bad for him that he didn’t get to take nap because he too was up all last night.  

Lucy’s CBC, electrolyte panel, nasal swabs for the flu and RSV, came back  normal; No indication of infection.  However, her chest x-ray at first glance looked normal, but the final report is indicating signs of possible viral infection.  We left the ER at 3:00am feeling somewhat better, but still with a very sick child.  This is the first time that we left in the middle of the night with her, normally we get admitted.  I was happy to be coming home, but still so very worried.  She continues to be running high fevers.  We have been giving her Motrin around the clock and it seems to help  for a little while, but her fevers are getting higher.  Her heart rate comes down slightly when her fevers are lower but creeps back up after a few hours.

We are watching and monitoring her very closely.   We just hope and pray that her body can fight off whatever it is that is ailing her, and that she returns back to the Lucy we all know and love.  Thanks for all you thoughts and prayers, we’ll keep you posted.

We’re in the midst of a blizzard!

It’s snowing again… technically we are experiencing a blizzard.  It has been snowing for more then 24 hours and we have more than 40 inches of snow on the ground, not all from this storm, this is a total from the two storms!  Where are we going to put all of it?   We’re not really sure, but I think that my husband may have some ideas-ha.  We are all home safe and warm, the kids had a snow day today and Drew worked from home as Pennsylvania  has declared a state of emergency.  School has been canceled again for tomorrow, wise decision.  

Tomorrow, or should I say today as it is past midnight, Lucy has two BIG appointments scheduled at DuPont.  One is with a developmental pediatrician Dr. W , whom we have been waiting to see since July.  The other is with a diagnostic referral specialist Dr. R, who we are hoping will be Lucy’s go to  mito doc, yes we are once again putting all of our proverbial eggs in one basket.  We have been preparing for these appointments for sometime and are mentally geared up to discuss Lucy’s past and present medical issues.  We received a call just before dinner from Dr. W informing us that they have cancelled all clinic appointments in the morning tomorrow.  She promised me that she will reschedule Lucy’s appointment sometime in the next week or two.  We were grateful for the call,  relieved that we don’t have to wake up at 6:00am to start shoveling  so we can back out of our driveway by 9:30am,  but disappointed that we have to wait another week or two for this appointment.    Good things come to those who wait, right?!  We are unsure about the second appointment as it is scheduled in the afternoon and we have not heard yet if they are going to have afternoon clinic appointments.  We’ll have to assess the situation in the morning and make a decision.        

It’s snowing like crazy!

It is beautiful outside!   The snow is falling at about an inch an hour, we feel like we are on the inside of a snow globe.  It is blowing and drifting and really difficult to see how much snow has actually fallen, there is easily eighteen inches on the ground.  The snow started falling here at around 4:00pm yesterday, the kids had an early dismissal so that the buses would be off the road by the time the storm hit.  Jack and Paul were thrilled since it allowed their sleepover party to begin sooner!

  

Our “girls night out” plans were not hampered by the snow.  Sophie wanted to invite Daddy and Lucy to come with us because she didn’t want daddy to have to eat dinner all alone, she is so thoughtful that one.  Megan was not as concerned about Daddy and Lucy, but after some consideration she too was thrilled to have them join us for our night out.  I was the most thrilled to have Drew with me because that meant that he could brush all of the snow off the car, help to carry the girls in and out, and I love spending time with him too.  We did end up going swimming last night at our local YMCA.  Our Y is just around the corner from our house so we felt safe venturing out. 

We were a little worried about taking Lucy swimming because she has a difficult time maintaining her body temperature.  Once her body temperature falls below 95 degrees she has a difficult time getting it to go back up.  The pool was warm but the air was cool, Lucy is so pale that she looks cold no matter what but you can really tell when her body temperature starts to fall because her skin gets a bluish hue to it.   Swimming is a big workout for Lucy, it is very taxing on her body.  She loves the water… for about ten minutes, after that she wants to lean against someone or something so that she doesn’t have to try so hard to balance.  Another big issue that we worry about when taking her swimming is aspiration, she keeps her binky in her mouth most of the time, but water is splashing everywhere.  Last night we were only one of two families swimming in the pool so that made for calmer waters.  Megan and Sophie were like mermaids in the sea, they were so happy to have the pool almost all to themselves.  They missed having Jack in the pool with them last night, it felt strange not having him with us. 

We swam for about an hour and then wrapped the girls up in their towels and Lucy up in two towels and a hat and headed for the shower.  Drew washed girls as I dried them off,  dressed them, and blow dried their hair.  Oh me, oh my do my girls have A LOT of hair.  Megan alone has enough hair for at least two people.  The girl has been blessed with very thick, beautiful, hair!  She inherited the Asian gene for thick hair.  Sophie and Lucy have a lot of hair too, but not nearly as thick as Megan’s. 

When everyone was dressed and dried we headed out for our Friday night usual, pizza.  We generally place an order for take out, but last night we conveniently decided to try a restaurant close to home.  Again we were only one of two families eating in the restaurant, it made us feel better knowing that we aren’t the only crazy ones.  Half way through our meal Sophie didn’t feel so well, she was complaining of a stomach ache.  She has been having issues with constipation again…still, but couple that with swallowing a gallon of pool water and she just plain felt awful.  I feel bad for her, I am going to schedule an appointment for her to see Lucy’s GI doctor.   We are concerned.

 

When we got home Sophie felt a little better and wanted to call Jack to tell him good night.  Jack sounded happy and tired. After speaking with Alicia this morning I learned that the boys went to sleep just before midnight and woke at seven, they are going to be tired today.  I also learned that the red and black check pajamas that I bought the boys for Paul’s birthday have turned Alicia’s house a not so lovely shade of  pink.  Everywhere the boys have been the pink has surely followed, sorry Alicia.  It will be a sleepover that will not too soon be forgotten :).

Apparently we need to be bracing for a storm…

It’s February on the East Coast and big surprise…they are forecasting a huge snow storm.  Every big snow storm that we have experienced in our eight years of living out here has happened in either December or February, and almost always on a weekend.   I have been told that we are getting anywhere from 18-24 inches, these estimates seem to be changing by the hour so I guess we’ll just have to wait and see.  Things are already being cancelled for the weekend and groceries are flying off the shelves at an astronomical rate, but they aren’t flying through the check out lines at the same rate.  The lines are ridiculous!  I walked into the grocery store earlier this evening because heaven forbid we are out of Cheerios, much to my surprise the lines to check out were all the way to the back of the store, all of the lines! I know running out of Cheerios constitutes an emergency in our house, but I think that even Lucy agreed that mommy or even better daddy should come back after bedtime and try again.  If they are all sold out of Cheerios at the store then let this serve as a warning to all my neighbors, there will be a desperate mother or father knocking on their doors in search of the only food our daughter can eat. 

Seriously, my first instinct was to call in refills for all of Lucy’s meds that are running low.  During the last snow storm we had in December we needed a very specific nebulizer for Lucy as she was sick and not breathing well.  We ordered it through a local medical supply company because they could get it for us the next day.  We paid an extra $56 for overnight shipping only to have a certain express delivery service not deliver it the next day because of the storm, how frustrating!  I am forever learning!  We have what we need to get through the weekend and most of next week, except for the Cheerios,  Drew is working on that as I type this.    

We have a jammed packed weekend in store for us, but I think that we may need to formulate a plan B just in case.  Jack is having his first official sleep over at his best buddy Paul’s house tomorrow.  He is going to be going home on the bus with him and staying until Saturday afternoon.  I think that he will get there with no problems as the snow is expected to start falling at around noon, if anything they will get dismissed from school early which will make Paul and him even happier!  We’ll have to see about coming home.  He is hoping that he will get snowed in at their house and have to stay even longer,  FYI Paul lives but a few miles from our house.  I have plans for a girls night out with two of my three little girls.  I have been a little vague on the details with the girls as I am not sure what the weather is going to allow us to do.  I am hoping that we can at least go out for dinner.  Sophie is hoping that I will take her to the pool,  the thought of swimming during the middle of a snowstorm gives me the shivers.  Drew and Lucy have a dinner date with some Cheerios, if he can find them.

On Saturday night Drew and I have plans to celebrate Valentines day a little early this year, we are planning to be early love birds and avoid the flocks of other love birds .  Our friends the Puff’s have offered to watch our brood in exchange for us watching their brood the following weekend, this is such sweet deal.  We’ll just have to wait and see what the weather has in store for us love birds. 

Sunday we are invited to a super bowl gathering and although I could care less about who wins the super bowl, my husband does.   I think that no matter what the weather has in store for us the snow should be all done and over with by Sunday evening.  Hopefully, we won’t have too much trouble going up the street to their house.

Drew and I were born and raised in the Midwest, in Wisconsin none the less.  We can handle, and in fact enjoy a few feet of snow; but we don’t live in the Midwest anymore, this is the East Coast and snow equipment ain’t (I know this isn’t a world but I just wanted to get my point across, Jack:) what we’re used to.  They plow our neighborhood with a pick up truck that has a plow attached to the front of it.  Eight years we have lived out here and we still can’t get over that.  Whatever happens, I see four very happy faces with rosy cheeks, runny noses, and hot chocolate mustaches in our future.