The Wheels on the Bus…

What’s a bus doing in front of our house in the middle of summer? 

Why it came to pick the kids up to go to the High School to visit Helen.  Let me explain…

In addition to Lucy’s wish to see “pincess’ and pops” she also desired to ride a school bus…some day.

In her words, every time she sees a bus she says, “Mommy…I want go on dadt… some day.”  My response is always, “Sure Lucy!”, in my heart never really knowing if indeed she will ever get to experience all that her little heart desires.

Our wonderful new nurse has connections with the bus company, she put in a phone call,  details were discussed, and viola… a bus pulled up in front of our house the following morning at around 9:00am .  Not just any bus mind you, a handicap accessible bus, equipped with a ramp and tie downs for our little princess’s throne, and seven seats for the remainder of us .

The most kind hearted bus driver, a friend of our nurse, was honored to be Miss Lucy and Miss Sophie’s first school bus driver.  She was very sweet, as was the assistant on the bus, giving of their time so that our little one could actually ride on a school bus.

The morning the bus arrived, ironically, I had to wake Jack up so that he would not miss the bus.  That child wakes up early on his own most days, except on school days….go figure.  Megan, Sophie, and Lucy were anxious, excited, and ready and waiting for the bus at 9 am.  Lucy kept saying, “No want miss bus!”

We rode to the high school where Helen happens to be the school nurse for the summer school program.  She came out and greeted us at the bus and then took us on a brief tour of the high school.  Afterward we got back on the bus and went home. 

It’s the little things that matter, we feel so blessed to have the people in our lives that love and care for our family.  Thanks for all that you do, we appreciate you so much!  

The View From Here...

Lucy is currently being transfused packed red blood cells.  Our hope and prayer is that this will help her body function more optimally.  Dr. R is never quick to transfuse, but after seeing our girl on Friday he said we need to do it.

It has actually been a quiet and peaceful afternoon.  Sad but true, I am finding some peace amongst the chaos. 

Oh how abnormal our normal is…

Thank you for all of your thoughts and prayers.  Things are going as well as can be expected.  I am looking forward to seeing our baby girl looking a little pinker.

How are things…

Well, let me tell you…It has not been a carefree summer by any means.  Things with Lucy are stressful at the moment.  She is experiencing what Dr. R describes as an autonomic storm.  We have seen this in her before, with each episode we see similarities but the presentation is different as is the outcome.  Lucy’s heart rate, blood pressure, body temperature, balance, over all coloring-she looks gray at times, oxygen saturation levels, energy level, attention span,  motility, and bladder are all areas of concern.

Several weeks ago Lucy started with elevated temperatures which always has us on edge.  Her heart rates have been swinging from the mid 50’s to 180’s.  I wonder what mine have been?  Lucy has been walking a hypothetical tight rope, balancing between fever and no fever, she has been sitting anywhere between 96.7 and 100.4, anything at or above 100.4 is considered a fever and thus and automatic admission.   Because we have Lucy on continual antibiotics it can be difficult to determine if an infection is brewing.  We did labs and cultures a few weeks ago on Lucy’s stomach and intestinal bile, they were seriously smelling like rotten eggs, to try and figure out what if anything obvious could be the cause of her issues.  We switched up antibiotics to cover some of the bugs growing in Lucy’s GI tract and put Lucy on a two week course of IV antifungals in hopes of seeing some improvements in our girl.  The antifungals helped to clear the yeast from her mouth which has been a problem for the past few months, so much so that Lucy developed some odd licking and sucking behaviors that I am happy to say have ceased since clearing the yeast from her mouth, poor baby.  The antibiotics have helped to kill the rotten eggs some of the new bugs that grew in Lucy’s cultures.  Despite our efforts to control the bacteria and yeast, our girl has not shown us signs of improvement. 

We had an appointment with Lucy’s cardiologist a few weeks ago.  Lucy’s hypertension and tachycardia are being controlled with the use of the clonidine patch, this is a good thing.  However, Lucy’s blood pressures are low, this is a side effect of the clonidine patch.  If we make any more changes in her clonidine dosing we are all fearful that we will see a rebound effect from the medication and we will be right back to the problems with hypertension.  We all agreed that clonidine is a medication that is keeping things under control for our girl, and so we are keeping the dosing where it is at.  In addition to being diagnosed with sinus tachycardia, POTS, and hypertension, Lucy was also diagnosed with an irregular heart rate.  Lucy's cardiac issues are not related to her heart muscle, but rather her autonomic dysfunction.  We have serious concerns for Lucy’s heart, but at the present time our options for treating Lucy’s symptoms come with greater risks than benefits. 

Most noticeably Lucy’s coloring is a few shades whiter than white, with a tinge of gray and purple thrown in there for coloring.  A few weeks ago she herself requested the need for oxygen, this coming from a girl who at her sickest just a few months ago fought wearing a nasal cannula while heavily sedated.  She has pretty much been 100% oxygen dependent for the past few weeks, without it she gets anxious and fidgety and starts looking gray.  We are getting used to the constant hum of the oxygen compressor in our upstairs hallway, Jack even said the other night that he likes the noise of Lucy’s oxygen compressor, “It makes enough noise that we don’t have to be as quiet in the morning.”.       

Lucy’s belly pain is constant and concerning, she continues to drain dark green and golden yellow bile from both her g and j tubes.  I have brought her to DuPont almost weekly to have her gj-tube checked for placement, almost hoping that they are out of position which could be the reason for her belly pain.  Surprisingly, it has been in good position which means that we have managed to keep a gj-tube in Luc for over a month!  Our IR team has been just as surprised as I have to see it still in her small bowel.  We started Lucy back  amitriptyline, a medication that helps to calm an irritable intestinal track, at double the dosing she used to be on before she became sick in April.  We are hoping that this will provide her with much needed pain control as our options for pain control are not options that I want for our little one just yet ever.

Lucy’s bladder issues have really come to light in the last month.  Since introducing straight cathing, Lucy has amazed us all at her willingness to have it done!  As with all things we have to to do for our girly, once she realizes the benefit she tolerates whatever it is that needs to be done.  She is so amazing!  She began realizing how much better she felt when her bladder was emptied, however we also realized how severe her bladder spasms were.  We started Lucy on the Oxytrol patch in an effort to alleviate the intense bladder spasms that she was experiencing every time her bladder was full and we went to cath her.  This medication has made a huge difference in Lucy’s quality of life.  Lucy is no longer able to empty her bladder without cathing which means we are cathing her every one to three hours or as she requests.  This gets complicated by the fact that Lucy is on Lasix twice a day to help with the third spacing in her body.

With all that Lucy has going on we have decided on Friday to schedule Lucy for a blood transfusion tomorrow.  We are hoping and praying that we will see some improvement in our girl.    

Our Make-A-Wish Memories

Make photo slide shows at www.OneTrueMedia.com

June…

It’s been so long since I last posted that I can title this post the month of June.  I originally set out to write a post about the UMDF’s annual mitochondrial medicine symposium that took place in Chicago two weeks ago, I am still working on that one, in the meantime I feel the need to catch you up on all of the other happenings in our life.

In an effort to just get it all out of my head, I am going to randomly write in list format….

The kids are all finished with school for the summer…still can’t believe that.  Our school year ended on June 16th, almost a week late due to  many snow days.  In the fall, Jack will be entering 5th grade, Megan will be entering 3rd grade which in our district means that she moves on to the big intermediate school, and Sophie will be starting Kindergarten, really. 

We attended the UMDF’s annual mitochondrial medicine symposium in Chicago a few weeks ago, I will post soon about the conference, but let me just say it was an amazing experience again.  Up until a few days before we left we were not sure whether or not we were actually going to be able to go, it was up to little Miss Lucy to make the call.  She was acting “off” here and there just days before leaving and that always keeps us on the edge of our seats.  Just 24 hours before leaving, we took her back to DuPont for yet another GJ tube placement.  Yep, if you recall she only had that tube for five days, it had most likely migrated out after a day or two(which was Friday or Saturday),  but I waited until Monday to schedule her a new tubie, which couldn’t be done until Tuesday.  A new tube was placed, dozens of bags packed, medical supplies galore were arranged to be shipped and some transported with us, our van cleaned…well sort of,  excusal notes for the kids to be dismissed from school at noon on the 15th were written so that we could allow enough time for the 14 hour drive to get to Chicago by the 16th, and off we went but not without stopping on our way out of town to have the oil changed in the van that had not been done since…umm, Thanksgiving.  We have had a lot on our minds recently, obviously none of which includes car maintenance.

While at the conference we learned more about a  new mito drug from Edison Pharmaceuticals, EPI-743.    It was announced just before the conference that Edison Pharmaceuticals had been granted expanded access from the FDA for this drug.  The FDA recently changed the criteria for which a patient can be eligible to participate in the study (click on the highlighted area for eligibility criteria).  Specifically, they removed the need for a confirmation of a genetic mutation which confirms a mitochondrial diagnosis.  Most mitochondrial patients do not have a confirmed genetic mutation, technology has not caught up with science and vice a versa, lifting this restriction has opened up this drug trial to many more critically ill patients.  To define critically ill, “you need to be deemed by the principal investigator (PI) to be within ninety days of end-of-life hospice/terminal care”.   As much as we hate the way this is worded, Lucy meets this criteria due to her being in intestinal failure and her 100% dependency on TPN.  Drew and I had an opportunity to meet with the PI for the study and briefly discussed our girly with him.  He highly encouraged us to send him her medical information.   We have several huge hurdles we will need to jump in order for Lucy to qualify, one her abnormal hematocrit, two her very elevated liver enzymes, and three the fact that the med needs to be administered via the GI tract with fat, aka food.   After discussing all of this over with Dr. R we all agreed that it’s a long shot, but a shot none the less.    

While away in Chicago, Drew and I celebrated 13 years of wedded bliss…ok, maybe not all bliss, but it has been amazing and continues getting better and better.  We are well aware of the statistics for marriages who have a child with special needs and are proud to say that we work hard at being in the minority.

Our trip to the windy city didn’t last as long as we had hoped, for many reasons.  We left town on Monday afternoon ironically after dropping our nurse Helen off at the airport.  We were wondering who would get home first she or us…she beat us by about six hours.  On Tuesday afternoon, I took Lucy to DuPont to have her GJ tube looked at, it was in position but clearly something was wrong with her belly.  On Thursday we brought her back to DuPont to see Dr. R to discuss some issues and talk about the study.  Labs and cultures were done, antibiotics were changed to cover some of the new bugs in her small bowel, as well as another IV antifungal to kill the yeast that is persistent.

Drew took the week off and we spent some much needed time as a family combining fun with daily responsibility.  We took the kids during the middle of the week to Dutch Wonderland, a local amusement park.  Upon leaving Give Kids the World, we were given a farewell gift, a one year family pass to any amusement park in the International Association of Amusement Parks and Attractions.   This gift was given to wish families so that they are able to “relive many of the memories created” during their stay with GKTW.   Many memories were had by all! 

We ended our vacation week with a private showing of the Cars 2 movie in 3D, courtesy of the Mid-Atlantic Starlight Foundation.  The Starlight Foundation is an organization that our family has been privileged to be a part of this past year, we are truly amazed with what they do.  

We are looking forward to lazier days…really I mean that, curling up with some good summer reads, lemonade stands, ice cream treats, sprinklers and slip–n-slides,  movie nights which hopefully lead to sleeping inn, local adventures, picnics in the park, bike rides, evening walks, pool days for most and dipping our toes in the water for some, but most of all making lasting family memories. 

Thanks for all your love and support, thoughts and prayers.  We appreciate them all!