Maddie
ABCA3 Surfactant Protein Deficiency
www.childfoundation.us
As you can see my daughter Maddie has some medical issues. She was diagnosed with ABCA3 surfactant protein deficiency - a rare genetic disorder that affects the lungs when she was 8 months old. Maddie had a very rough first week of life, and our doctors told us to begin our goodbyes, because according to all the medical research she probably would not live. The top picture was taken two days after we were told Maddie might not survive the night (January 30, 2006).
Our
Maddie seems not to read the medical texts ... here she is (left) at 6
months old - THRIVING! The brownish patches on her cheeks are
duoderms:
adhesive pads that protect her skin from the top clear
adhesive that holds down her oxygen and feeding tubes.
Maddie is beginning to walk at 15 months old
(right). She and her twin sister are into anything and everything!
They excel at ripping toys away from one another, chasing their big brother,
and waving "bye-bye!" Some people tell us how sorry they are when they
hear about Maddie - we're actually very lucky! We have wonderful support
systems, and it is all worth it when she gives us that big smile! It
is tough at times, and we always worry about her contracting viral
illnesses, but we are getting better at dealing with them at home.
In
the summer of 2007 we were given some additional dubious news:
Maddie's twin, Hallie also has the genetic markers for ABCA3 surfactant
protein deficiency. Hallie is very healthy now, and we're hopeful she
continues to stay that way. Doctors just don't know enough about this
disease to be able to provide us with prognoses for our girls.
If you're asking how you can help, please consider using www.goodsearch.com for all your internet searches, and http://www.goodsearch.com/goodshop.aspx for online shopping. When you first go to the search engine, they will ask you to choose a foundation: please select chILD Foundation - Children's Interstitial Lung Disease Foundation (Mason, OH). Then every time you do a web search from that site, they will donate a penny to the foundation. Every store that you order from linked to the site donates a different percentage of your overall sale.
FALL
2007 - Thank you for making
chILD's Night Out a HUGE SUCCESS!
There is still time to donate
to the chILD Foundation. ALL PROCEEDS will be put into a medial
research grant. I'm very pleased to announce that we raised $80,000
from the chILD's Night Out event - and hopefully those dollars will lead to
answers about this kind of disease that will help all those diagnosed.
Winter 2007-2008 - Maddie was additionally diagnosed with "failure to thrive" in January. We're now adding supplemental calories to her diet (Duocal), and she's slowly learning to eat orally. It was a much better winter than last year - only a few minor hospitalizations, and one surgery in late January. All in all, pretty good! The girls turned 2 in January, and now, in April are talking like crazy and dying to go outside to play. We had almost 100 inches of snow this winter, so we've had too much inside time. All the snow has made the back yard quite boggy. However, the warm weather always lifts our spirits as we know we're coming into the summer months when we can go see many friends and family that we miss during our cold/flu hibernation!
Spring 2008 - I've been accepted to the board
of directors for the chILD Foundation. I am so thrilled to have a
title to
accompany the work that I am trying to do. The foundation
families have been the most wonderful support ever - and I hope I can put
some restless energy to good use! My main duty right now for the
foundation is keeper of the web site. Please visit us at
www.childfoundation.us.
Summer 2008 - WAHOO!!!!
Maddie has grown enough and is doing well enough to be able to be off
supplemental oxygen!!!! Hallie continues to show no symptoms of chILD.
Now without an oxygen tether, the girls get into heaps of trouble:
Here they are playing in the fountain in the Rose Garden at the Chicago
Botanical Garden in August 2008.
Maddie continues to amaze us! There is still some much that is unknown about Children's Interstitial Lung Disease - and we are so hopeful that one day, no other family will have to experience the things we have endured.
Fall 2008 - We just finished the
Hike for Lung Health in Chicago. I was only 14 weeks post op (left
hip resurface) but decided to try to three mile hike. Paul was
under the weather, but the kids were completely up for it. The girls
walked almost the entire route! It was a day I never thought that I
would see! We finished the Hike dead last, but we finished!
Maddie continues to do well off the oxygen, so now we're turning our
attention to her feeding issues. We've just completed the paperwork so
that we can attend an in-patient feeding program at Children's Hospital Of
Wisconsin (CHOW) in Milwaukee. I've heard great things about this
program: many children enter feeding tube dependent (like Maddie) and
come out eating almost all their calories by mouth. There of course is
a waiting list, and we hope to be in the program next June.
Hallie is still asymptomatic. ;-) Paul has just gone for a consultation with an adult pulmonologist to be screened for evidence of changes in his interstitium (the adult version of what the girls have is called Idiopathic Pulmonary Fibrosis). He's scheduled for a HRCT scan and a PFT this week. I have no idea what this will show - but am hopeful that there is nothing to worry about as we watch our children grow and thrive!
October 2008 - I am amazed each and every day at my amazing girls. How they both have identical mutations, and present so differently is baffling. Maddie is still off supplemental oxygen, even though we've been fighting lots of colds this fall. Her eating continues to improve. Hallie still looks, acts and eats like a normal toddler.
In late October we went to Kroll's Pumpkin Patch to get pumpkins, see their really cool chickens, and the other farm animals. The girls LOVED the baby goats! It was so awesome to go on a trip with them and not need to bring extra oxygen tanks. We still carry around back up G-tubes, and extensions and syringes in case she needs an urgent flush of fluids (Maddie gets dehydrated quickly). But despite the tube feeding, we're trying to do as many normal things as possible. Hopefully in the future we won't bring any weird medical supplies with us on trips!
Flu shots are next - and then we hunker down for the rest of the winter! Look for new posts in Spring of 2009!
February 2009: RHAMC's Hustle up the Handcock
was yesterday ... I am in awe of the people who climb the full 94 flights to
help support
RHAMC efforts! I gladly provided an
interview to help
with the fundraising efforts ... disclaimer: My friends at work say
that it will make you cry. Thankfully it is only 1 min 10 seconds - so
only a few tears might escape! And after being at the climb, my
husband and I have vowed to start a team and climb next year. Email if
you want to join us!
jean.schmit@sbcglobal.net.
Fall 2009: Yes it has been quite some time since I posted! We are very busy living life with three-year-old twins! The past winter was a difficult one. The girls were sick constantly as they started pre-school on their third birthday. We had way too many rounds of anti-biotics, too many occruances of strep throat, and way too much lost sleep. Maddie's ear tubes came out again, and in May they were replaced ... they fell out again, and were replaced in Septmeber. Also during the summer, I attended a conference on chILD and learned that young children in growth spurts may need supplemental oxygen, even IF their vital signs do not indicate that the oxygen is necessary. Maddie was having a very difficult summer. We restarted night time oxygen, and the results were nothing less than fantastic! So, we are so glad that she's doing better, but are back on oxygen. It's ok for now, and she seems to like it, and can function better
October 2009 - I was plesantly surprised to receive the "Making a Difference" award for Lung Health Advocacy on Oct 21, 2009. The RHAMC was so very kind to the chILD Foundation, and I am so thankful to them for all the support they provide to the chILD Foundation. Let's hope that sooner, rather than later, more people know about lung diseases so that we can begin to find cures for them.
November 2009 - Maddie is off to Children's Hospital of Wisconsion (CHOW) to the feeding camp. It's a porgram designed to get kids OFF G-tube feeds. I would estimate that Maddie gets 75% of her calories from the G-tube feeding (special formula that we pump into her) and the rest orally. Well, she's doing well enough now to try and get her to take everything orally. We started swtiching some medications (We are on Singulair right now and it is working wonders!) to oral administration. And Maddie has really taken to Grandpa Tom's red apples! I have my fingers crossed that she graduates from the tube!
May 2010 - Well our visit at the CHOW feeding camp was very short lived. We both contracted H1N1 and were promptly sent home! But the most amazing thing happened as we were quarantined: Maddie began to refuse G-tube feedings, and decided that she would eat! She's eating enough to stay on her growth curve, and so we're working with her to better accept a variety of solids, but basically she's getting ALL of her calories by mouth. (This is such a tremendous achievement - and she somehow learned in only 2 days at the camp, that she should be eating, and then she just started doing it!)
Maddie is growing by leaps and bounds developmentally. She's talking much more, and sounding clearer and clearer every day. With the supplemental oxygen at night, she's sleeping soundly. She's eating orally. She's doing all the things we hoped that she would be lucky enough to do! She LOVES to play outside - and she and her sister and brother are actually beginning to play cooperatively. It is nothing short of a miracle!
chILD's Night Out 2010
Yes, the Chicago area families are at it again. This time we've got strength in numbers, and 5 families are joining together to host this event. Ticket sales will begin very soon, and the event is looking to be as spectacular as the initial one was. If you would like to come, or make a donation, either monetary to the fundraiser, or an item or service for our silent auction, please check out the foundation web site at www.childfoundation.us. There is a link in the top right hand corner, and it will lead you to our chILD's Night Out page. We hope to see you there!
Why would I take on something like this? Right now, there is little federal funding to support research in pediatric lung diseases, because the numbers of patients is so few. There is little incentive for pharmecutical companies to research due to the limited profitability of those endeavours. That leaves these kids out in the cold - living with only supportive treatments. I want better for my kids - and for all the kids who follow us. I want to see advnaces made in the treatments available for these kids. I want there to be less reasons for double lung transplants .... and I hope that maybe answers in pediatric lung disases might help advance treatments for lung diseases in adults too!
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Schmit's Science Synopsis
Schmit's Science Synopsis - Maddie
Updated May 5, 2010
Comments or Questions?
jschmit@wths.net
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