Saturday, August 27, 2011

Come on Irene…

Hurricane Irene is here!  It is raining horizontally, the winds are strong and making too much noise for some of our kiddos to fall asleep,  we are also under a severe thunderstorm warning, and apparently a tornado warning.  We are taking all of this seriously and are prepared.  We have filled our bathtubs with water just in case we lose power, and you know…have to flush our toilets, we have our flashlights charged, ice packs in the freezer so that we can put Lucy’s TPN and meds on ice if need be, and food in the pantry.  Many people have asked us about Lucy’s medical equipment.  All of her infusion pumps run on Duracell batteries, no matter what happens to our power she will continue to receive her TPN, meds, and fluids without interruption.  We also have enough o2  tanks to last us well into next week if need be.  We are safe and sound and obviously still have our power as I am typing this post.  Thanks for all of your thoughts and and concern.  It has been a crazy week,  first an earthquake and now a hurricane.   

Thursday, August 25, 2011

T-Shirts…

Hurry and order your “For the Love of Lucy” team shirt today!  While your at it, register to walk with us on Saturday September 17th!  

I have to have my order in to the printers by the end of the week so that we can have our shirts in time for the walk!!!!!!!

EFL Team Photo 2010 #4

Thanks to our amazing and talented friend Kimberly, our team has an awesome team logo that we just love!  Many people asked us if they can buy a shirt to support our team…why of course!

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Here are all the details:

  • Shirts come in both child and adult small, medium, large.  Adult shirts come in  XL and XXL as well.
  • Shirts come in pink, green, or black.  They all have the Energy For Life logo printed on the front, the UMDF logo printed on the sleeve, and our team logo printed on the back. 

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  • Shirts cost $10 for those of you who will be walking with us on the day of the walk Saturday, September 17th.  This price covers the cost of the shirt with the printing.

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  • If you want to buy a shirt to support our team we would be honored!  We are selling shirts for $15.00, with the extra $5.00 going towards life saving research.

Let’s do it… one step at a time we can make a difference!

Payments can be made to me via a check or cash.  Leave a comment if you need our mailing address. 

Here you have it, if you have any questions or concerns please feel free to leave me a comment with your e-mail and I will be sure to get back to you.

Sunday, August 21, 2011

Just a reminder…

We look forward to seeing you at Grottos on Main Street in Newark, DE tomorrow between 4 and 9 pm!  Bring your friends, your family, anyone you know, and help us to raise awareness and funds “For the Love of Lucy”!

Grotto Pizza

*You will need to print this voucher and present it when you order!  Vouchers are valid for dine in and take out orders.  If you are unable to print this voucher, I will be sure to bring a few with me, we are just not allowed to pass vouchers out at the restaurant.

Tuesday, August 16, 2011

Mania…

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I am about to make the understatement of the year…I have a lot on my plate right now!  Sometimes it is just gratifying to write it out and sometimes it is not, let’s just see how I feel when I finish writing this post. 

The 2nd Annual Energy for Life Walk is VERY QUICKLY approaching!  I am not worried that we will not have an amazing walk team, but I am a bit worried that it will pull together at the very last minute, last minute stuff + our life = way too much stress.  Hint, hint, if you are planning to or are even thinking about joining our team “For the Love of Lucy” on September 17th we would be honored, please register!  Like last year, we are going to be selling our team shirts for those of you who are interested.  I am working on the details of just how best to go about doing this.  I will get back to you as soon as I know. 

You know that saying if you want something done ask a busy mom…In addition to getting our walk team together, I was asked if I could reach out to the other teams that are already registered for the walk and assist them with any questions or concerns they might have…really.  I am going to have to carve out some time to call eighteen team captains.  Hey, looking on the bright side, eighteen teams plus ours are going to be walking this year!

Lucy is acting manic…again.  She was awake most of the night yelling, “I-want-get-out-of- my-bed!”  I was so tempted to yell back to her, “I-don’t-want-get-out-of-my-bed”, but of course I didn’t.  Drew and I took turns dealing with all the requests and desires that our little one had up until the wee hours of the morn.  If we weren’t so tired ourselves, we probably would have laughed more than moaned about attending to the little Miss’s needs.  She finally crashed around 4 am, she looks exhausted, but for reasons beyond our comprehension just can not sleep.  Her autonomic body is “off”, her heart rates are swinging like crazy, she is acting crazy, she is very ataxic, her pulse ox numbers are up and down, she is flush and sweaty one minute and cold and clammy the next.  Too bad I couldn’t get all my phone calling done in the wee hours of the night…I had time.

In addition to not sleeping and taking on more than I should, I have the additional role of being a party planner this week.  We are gearing up to celebrate Sophie’s 6th birthday on Friday!  For Sophie this is the moment she waits for all year, this year she decided that a Hello Kitty themed birthday party was what she wanted with and emphasis on art….humm.  I am working on the details and will no doubt pull this off by Saturday for Soph, the day of her party.

Yes, times are a bit crazy around here.  Our main doc is back and we are scheduled to see him in clinic on Thursday, not a moment too soon.  Jack and Megs had their annual eye appointments this afternoon, which meant that I was out and about with the big kids so we spent some time gathering things for Sophie’s party. We are also in the midst of looking for buried treasure in the backyard to help us pay for a new handicap accessible vehicle that we are currently in the middle of negotiating.  At times I feel like my head is spinning, but know that I love to have all the things in my life that make my head spin :).

Saturday, August 13, 2011

Medically speaking…

I purposely left out a lot of the medical stuff in my last post, I wanted to shine the spotlight on some other areas of our life.  Our main doc has been on vacation for the past two weeks.  Before he left he put in a script for two weeks of antifungals to cover the reoccurring yeast that our girl just can't seem to shake.  Our hope was to have some time away from DuPont while he was away…really we were!

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In June we had a conversation with our main doc about keeping Lucy out of the hospital for the summer, or really for as long as we possibly can. We have had some very serious discussions about how exactly we were going to set out to achieve this. With every decision, we talked about whether or not doing this or that was going to give her “quality of life”. In all honestly, we’re not sure, but we certainly hope the decisions we are making for Lucy, and all of our children for that matter, give then “quality of life”. Looking back on the last two months it would appear that our decisions have kept our girl from having any sleepovers at the hospital, and for this we are so grateful. Spending time out of the hospital and at home as a family is quality of life!  However, I will admit that I am scarred for the future, of what our decisions now are going to mean for our girl down the road. In order to keep Lucy home this summer we have her on some pretty heavy duty antibiotics and antifungals to keep the infections at bay. We are messing with the bug kingdom by choosing this route for our girl, knowing that one day we will most likely be confronted with a bacteria that we can not get rid of, when that happens we will need to realize that we did all that we could to give our girly, and our entire family for that matter, quality of life.

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Last week we had a real fear that Lucy had a urinary tact infection brewing, when we dipped her urine at home it showed signs of infection, even more obvious was her discomfort. We took our girl and enough urine for several cultures over to DuPont Monday afternoon to meet with our urology group. The overwhelming fear expressed by the group was what antibiotic would we put Lucy on to cover the infection. Most everything they thought of, she would likely be resistant to because she is currently on several pretty heavy duty antibiotics. We discussed using prophylactic antibiotic washes in Lucy’s bladder, but the med that we would use to do that is a med that we routinely use for small bowel bacterial overgrowth. Fortunately, Lucy did not have a UTI, but rather we discovered that she has developed a reaction to the lubricant in the closed cathing system that we use on her, her urethra was swollen and bleeding.  Here was one of those situations that if this was the only problem we had to deal with, then we might feel overwhelmed by it.  However, I was relieved to learn that this was our issue and not an infection. This is not to say that what Lucy is experiencing is good, but it is better than the alternative, that she is growing resistant bacteria. As five women were standing examining our little ones very sensitive urethra, we could all relate in some way to her discomfort and focused on trying to improve her quality of life when it comes to cathing. Our urologist walked over to outpatient pharmacy to personally put in a script for Lidocaine for our girl. She did this for us knowing that it would require some persuasion on her behalf to get this med.  It worked and so is the med. Needless to say, we are trialing different cathing systems.

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Last Friday we had an urgent need to have Lucy’s gj-tube looked at in IR.  Ugh…if it’s not one thing it’s her gj-tube!  I called  Friday morning at 9:00 am to schedule a time to have it looked at, they told me the schedule was packed and the only time they had was in an hour.  I was on a tight schedule on Friday, we had to be at the U of De by noon for Jack’s final presentation, but I also knew that I had to have her tube looked at before the weekend.  Getting the very potent yet small volumes of antibiotics into Lucy’s  jejunum is how we are keeping the bacteria from translocating  into her blood stream and making her sick.  Without j-tube access we fear that the meds would not come in contact with the bacteria in her intestines.  I sprung into action,  I called Helen to rearrange our schedule, dressed and fed the girls, gathered all of the medical supplies I would need to be out of the house for a few hours(this in itself  is impressive), loaded up the troops and Helen, grabbed a power bar for breakfast and we were on our way. Let me just state for the record that I was only 15 minutes late,  not too bad if I do say so myself.  Lucy’s tube had indeed migrated, but not out all of the way, they did a dye study to check for placement and  all agreed that it was in far enough that nobody wanted to risk replacing it.  We have all been witness to Lucy’s bowels push back a j-tube during a placement,  and we all agreed that just barely in position was better than not being able to position it at all.  We left IR  half joking that we would see them next week.

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On Thursday, we had a two hour therapy evaluation at DuPont with an OT who specializes in hand strength.  Lucy’s hands, just like her entire body, are weak.  She suffers with hypotonia, and has loose joints.  As a result she has some physical limitations with what she can do with her hands.  Mr. Joe was amazing with our girl, he had all kinds of ideas and devices for us to trial from things as simple as a foam cylinder to poke her crayon through to help improve her grip, to custom made hand splits that secure her wrists giving her hands a stronger grip.  I am amazed by what splinting her wrists have done for her hand strength.    

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I wish there was something we could do to improve the strength of Lucy’s GI system.  Our weekly labs on a weekly basis are telling us that Lucy’s  TPN cholestasis is trending the wrong way.  Her liver numbers are over 300 and climbing, as well as her GGT and alkaline phosphate, all indicating worsening liver disease.  We are scheduled to see Dr. R this week, at that time we are going to have to make some decisions as to what to do about the lipids in Lucy’s TPN.  Lipids are the fat source in Lucy’s diet that are processed through the liver, we are only running a minimal amount of lipids one day a week.  Lipids provide the essential fatty acids that the body needs.  I am not sure what the next steps will be, but will let you know when we do.

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Overall Lucy looks puffy, her edema is dramatic.  Almost everyone who has seen our girl has commented on how much bigger she looks compared to what she used to look like.  There are a lot of theories out there in the medical world as to why Lucy’s body is third spacing, obviously there is a vascular leak somewhere, but why we really don’t know.  Her kidney numbers continue to indicate that she is in need of more fluids, which would be the opposite of what you would think she needs when looking at her.  Her fluid in compared to her fluid out are indicating this as well.  Cardiology is concerned about her edema and the impact that will have on her heart.  We use Lasix twice a day pulling off at least two pounds of fluid daily.  We have been told that the body responds in all sorts of ways when it is in distress, we will continue to treat the symptoms.

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I stopped by urology on Thursday to pick up some more cathing samples.  I was talking with the very wonderful PRN who takes such good care of us.  She very sweetly said, “We did it, we made it almost two weeks without the good doc!”, referring of course to our beloved Dr. R.  Laughing we said very seriously,  we can’t wait until he is back! 

Wednesday, August 10, 2011

A Summer"y”

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I realize that I am way overdue on updating the old blog on all of going’s on in the Marlett house this summer.  It is not easy to find time to blog much these days, much less go to bathroom when you have four children…my life is full, and so is my bladder on most days.  However, today by some stoke of genius, my wonderful husband was able to take some time off and took 3/4’s of our kiddos out for the afternoon so that I could have some quite time,  in our house, alone, with a sleeping baby of course.  Ahhh, all I hear is the sound of air, really…it’s the sound of the oxygen compressor.

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Summer here in the Mid-Atlantic has been hot and humid, much like it has been for the past nine summers that we have lived in this area.  I can hardly believe that it has been nine years since we moved from our little house in the Midwest, I miss Midwest summers.  We live with our AC on pretty much from Memorial day to first day of fall, it keeps us all comfortable, especially our extremely heat intolerant child.  Even in our climate controlled house, Lucy is struggling with temperature regulation more than we have ever seen in her, all of this is as a result of  her autonomic nervous system dysfunction.  She sweats profusely one moment and is freezing cold the next.  Whenever she feels hot or sweaty she cries,“I needa takea baf!”    Since she fixates on things, when she announces this, a “baf”  is almost always what we end up having to give her to calm her down and cool her off.  Of course, bathing Luc is no easy chore, she can not get her lines wet.  When we built our house a few years ago we had a sink installed in our kitchen that is big enough to bath a small child, and a small child is often what you will find in our kitchen sink these days.

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We have some wonderful friends who very graciously allow our family to swim in their beautiful pool whenever our little hearts desire.  I am not sure how much they realize what an invitation like this means to our family.  It allows our kiddos an opportunity to swim with their sister who otherwise would not be able to do so.  We have a system in which we push Lucy’s wheelchair right up to the edge of the pool so that we have a place to set her oxygen tank and various pumps.  Then we saran wrap, twist, and cover Lucy’s lines with a swimming shirt so that she can, for a few minutes or however long she can tolerate the movement of the water on her body, “swim” with her siblings.  Lucy only lasts in the water for a few minutes before she asks to lay down on one of the lounge chairs or on someone’s lap.  She is content to just sit and watch the kids, which means that mommy is able to just sit and watch the kids too.  The other three kiddos are like fish in the pool.   Sophie taught herself how to swim sometime in the last year, not really sure when it happened but one day she just set her mind on passing the swim test at the pool so that she could go down the side with the big kids, she did it and has been swimming without a life vest ever since.  She is one determined kiddo, I wonder where she gets it?

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Jack just finished two amazing weeks at the University of Delaware.  He was accepted into the New Arc Academy, a program for kids gifted and talented in math and science.  The focus of the science, robotics, computer camp was on genetics this year, a subject area that Jack is learning more about than we ever thought he would at his age.  Apparently, Jack shared with his group some about mitochondrial disease and his understanding of genetics.  His instructor shared with me how Jack was able to explain what  an autosomal recessive  inheritance pattern is and why he knows and understands it.  She told me that he was very knowledgeable about the disease and obviously a very caring brother to his sister.  Smart and compassionate…what more can you ask for!

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Megan and Sophie have been keeping busy with various camps, dance, and music lessons.  Even more, Megan and Sophie,and sometimes Lucy too, have been spending hours in our basement playing babies, house, hospital, school, and lord knows what else.  It very often looks like a tornado has come through our house, and in the middle of it are three or four (Jack would kill me if he knew I wrote that he played house with his sisters) happy children playing together.  I love to see them all playing together… I love to watch them all interact…I love listening in on their conversations with one another.  Megan is so maternal to Lucy, Jack will do anything he can to assist her, and Sophie just plays with Luc like she is normal kid… it is amazing to witness.  Drew and were recently discussing the kids and all their glories and short comings too, we both shed some tears when we talked about how much they are going to miss Luc when her time here on earth is done.  We want them to have as many everyday memories as possible, memories that only siblings can share.  That is “quality of life” in our opinion.  I love when Lucy says to the kids, “member when…” and they either respond with laughter or fill in her missing words.  This summer is allowing us time to make memories.

Tuesday, August 9, 2011

Shop for a Cause…

I received this e-mail from the UMDF today and thought I would pass it along.  This is an easy way to help the cause, in addition to helping you save a few dollars.  For those who know me well, know that I never shop without a coupon.

HURRY THE LAST DAY TO PURCHASE YOUR TICKET IS WEDNESDAY, AUGUST 17TH!

Help Support the UMDF by Shopping at Macy's on August 27th.
Purchase a Shopping Pass Here for $5
THE LAST DAY TO PURCHASE YOUR TICKET IS WEDNESDAY, August 17th :


Help the United Mitochondrial Disease Foundation by participating in Macy's Shop For A Cause event on Saturday, August 27th, 2011.

How It Works:

*Log on to http://www.umdf.org/shopforacause and purchase a $5.00 shopping pass.
*Shop For A Cause gives you the opportunity to help the UMDF by purchasing a $5 shopping pass for exclusive savings and special offers in every Macy’s store on Saturday, August 27th. Receive 25% off on regular, sale & clearance items, including home. Save 10% on electrics/electronics, furniture, mattresses, and rugs/floor coverings.As a participating charity we keep 100% of the proceeds from the sale of each pass. Plus, you can enter to win a $500 Macy’s Gift Card!

*This exclusive shopping pass can be redeemed at any Macy's on Saturday,August 27th. By purchasing a shopping pass to the event you can support UMDF while enjoying a day of spectacular discounts, entertainment and special events.
For more information please contact events@umdf.org
* some exclusions apply


"Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10."


The United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239
Toll-Free: 888-317-8633 | F: 412-793-6477 | info@umdf.org

Monday, August 8, 2011

You’re ALL Invited to a Pizza Party…

Invite your friends, your family, anyone you know…

Please Join us on Monday, August 22nd  from 4pm to 9pm at Grotto Pizza on Main Street in Newark, DE for a Community Pizza Night!

All proceeds from this event will be donated to the United Mitochondrial Disease Foundation For the Love of Lucy!

Your support means so much…we look forward to seeing you there!

Grotto Pizza

*Please note, you will need to print this voucher and present it at the time of ordering. Vouchers are good for dine in and take out orders!

Monday, August 1, 2011

Let’s Walk and Roll…

Come on everybody let’s walk and roll!

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It’s fast approaching…

the 2nd annual United Mitochondrial Disease Foundation’s
Energy for Life Walkathon
!

Please join our team “For the Love of Lucy”

on Saturday, September 17, 2011

at Campbell’s Field Stadium in Camden, NJ

for a 5K walk along the riverfront.  

Registration begins at 7:30 am with the walk starting promptly at 9:15 am.

Please help us to raise awareness and funds for mitochondrial disease, a disease that impacts our lives and the lives of many others! Your love, support, thoughts and prayers mean so much…thank you!

*To register as a walker or a virtual walker click on “For the Love of Lucy”, either above or on our side bar on the left side of our blog. You will be connected to our team page where you can register online and join our team.