Less is More?

Every day here is different in how Kaitlyn is feeling and doing. Today, we decreased the amount of food she is getting at each G-tube pump feeding because her body seems to not be tolerating it as well as before. As her liver and spleen continue to get bigger, it puts more pressure on her stomach, making it not able to tolerate as much as often. We knew this would happen, so it's not a big surprise to us but it doesn't make it any easier.

Kaitlyn on the piano

Kaitlyn also had really dark urine in her diaper this morning. She is prone to urinary tract infections but she isn't showing any other of her typical signs so we are keeping a close eye on her for signs of infection. Worse case scenario is that her kidneys are starting to shut down but hopefully she just needs a  little less food!

Cole on the drum

 She continues to have "quiet" seizures, where she stares up, goes pale and grinds her teeth. Sometimes her arms and legs will tighten or twist a little but they aren't like your typical grand mal/tonic-clonic seizures. Sometimes her breathing will get really shallow or even stop but she has been able to come out of them with just a little help (stimulation, blowing in her face and suctioning). She also has apenic episodes where without warning she will stop breathing for a bit. Her "episodes" from start to finish last about 2 minutes. We are able to keep track of everything with her pulse/ox monitor which she continues to have on her 24 hrs a day, as well as the oxygen.


She is definitely less fussy then she used to be which is either from her disease progressing and her being less aware or from all of the medications she is getting, which tend to have a calming effect. We're pretty sure it's mainly the meds.

Picking a pumpkin for Kaitlyn

She still doesn't laugh but we can get a few small smiles out of her every day. We can also tell when she is happy or excited because she will move her arms, legs and head around more. It's amazing how much communication there is even without talking and being able to barely move her arms and legs. Her eyes, especially, tell us so much.

We are very thankful for having another day with Kaitlyn. Life is so very precious. Please tell your loved ones how much they mean to you every day. Please continue to pray for Kaitlyn and that the decrease in food will help her overall.

Click here to donate $11 for the 11/11/11 Challenge!

Thank you to everyone who is supporting the Niemann-Pick Disease Foundation by donating or taking the 11/11/11 Challenge. It really means so much to us and all of the other families who have been told that their child has just their childhood to live a lifetime. Thank you!

Simply Amazing



A hint of a smile



A few weeks ago, I posted a video about the beginning of our journey with Niemann-Pick Disease. I had no idea how many people would see this video and be affected by it. The first week I had the video link on Facebook, I had over 50 Facebook Friends share the link with all of their friends. I don't know how many of those friends then went on to share it but I started to receive donations on Paypal and in the mail for the 11/11/11 Challenge. So far, they have been mostly from people we don't even know... but YOU do.

Just by doing something as simple as sharing Kaitlyn's video, we have already received over $1,200 that will go directly to research for Type A/B. This doesn't include any donations that were made directly to the Niemann-Pick Foundation in honor of Kailtyn. This wouldn't have happened without your help. Please continue to share Kaitlyn's video with others, whether it's through Facebook or email or showing them the video on your phone or laptop. It is making a big difference. With over 800 views on YouTube, that is A LOT of people who now know a little more about Niemann-Pick disease who otherwise wouldn't have a clue. The value of awareness is priceless. I have had messages from people saying that it has touched their hearts in a profound way and even some who said they were sobbing at work (sorry!). Just knowing that it has made an impact on their lives in some way, whether it be for an hour or a week or forever, makes me so proud to be Kaitlyn's mother.

Always my favorite thing to do... hold her

As for Kaitlyn, she is doing well. Every day is different in how she is feeling. Almost every day she has multiple seizure-like episodes or episodes where she stops breathing. They don't last very long, a minute at the most, and we have been increasing certain medications, which seems to be helping. Today she didn't have an episode at all! It's been awhile since I could say that. Although tomorrow we could wake up and it be a completely different story! That's okay though, cause we still have her here and we are so blessed with each day that we have with each other.

Smiles for Pepere!

Please continue to keep Kaitlyn in your prayers but also all of the other families who are fighting this disease, whether they just got a diagnosis that their child's life will be cut short, or those who are starting to notice their child not being able to do the things they once were able to do or those who are fighting to keep their child alive. One day there will be a cure for this heartbreaking disease, but for now we must persevere and lift each other up in prayer and compassion.
 

Always on the go but he stops to check on her...

 

to say hi...

and give her a kiss!

WOW!

We are so blown away by all of the support everyone is giving us and in sharing Kaitlyn's story. It fills our hearts with so much joy that the video has touched so many people's hearts enough to share it with others.

Kaitlyn fell asleep holding Cousin Makayla's hand... actually they both fell asleep :-)

Knowing that Kaitlyn has made an impact on others' hearts and continues to make an impact is the whole reason she is here. To teach us about what is important in life and to cherish every moment we have with each other. 

Thank you from the bottom of our hearts for continuing to share Kaitlyn's video and our blog with others. The more people we can make aware of Niemann-Pick Disease and help raise funds for research the better. Since it is such a rare disease, it doesn't get much attention but with your help, we can help them find a cure so that no family ever has to go through this again. We can all make a difference.

Kaitlyn and Cole taking a snooze together

We are also so excited to see that many of you are taking the 11-11-11 Challenge and finding 11 people to donate $11 to the Niemann-Pick Disease Foundation. Please make sure when you donate, that you specify that it is for Type A/B and add Kaitlyn's name on the form. This way the money will go directly to research for Type A/B. Kaitlyn is 1 of only 5 children in the US with Type A! Here is a direct link to donate online.  Donate here. You can also donate through Kaitlyn's Fund on the right hand side of this page.

Thank you all so much and please continue to help raise awareness of Niemann-Pick Disease. Together we can make a difference!

Our Story

Since October is Niemann-Pick Awareness Month, I made a video about our sweet girl and how we found out that she has the disease.

If you have trouble viewing the video, go to: http://youtu.be/AqpyN489mEE

Changes

Sorry I've been quiet these past few days. I've been having a rough week emotionally. Kaitlyn is doing okay but the disease is progressing. Her seizures have gotten more frequent and are causing her oxygen concentration to go down too, which they weren't really doing before. She is also getting more dependent on the oxygen. When we take the nasal cannula off of her face to put her shirt on, her oxygen will dip within a minute or so into the low 90s.  Not a bad number at all but a week or so ago it would take at least 15 minutes for her oxygen to start to dip.

Seizures take a lot out of her

It is obvious that the disease is progressing rapidly and it is really difficult to accept all the changes. Sometimes it just feels like it's getting closer and closer to the end. I'm not trying to be negative but rather honest in what we are going through.

Checking on big sis!

I cherish every moment I have with Kaitlyn. One of my favorite things to do is to hold her. I haven't done a lot of it lately cause it seems to always cause her pain but I've been making a point to hold her every day, even if it's just a few minutes. Holding her makes everything seem right in the world, it is one of the best feelings.

Since Kaitlyn's last stay at the hospital and the start of seizures and apneic episodes, she isn't interactive much at all. She will occasionally give a half smile or move her arms and legs to show that she is excited but it is really hard to watch your child not be able to express herself like she used to. It has been almost a month since I've heard Kaitlyn giggle. The truth is that it might have been the last time that she was neurologically able to giggle. I hope that it isn't but as things get worse you just don't know.

She still loves books but is now more into the ones that rhyme!

With this type of terminal disease, you don't just mourn the loss of your child when it happens. You mourn and grieve every day for the things that are lost, like abilities your child once had, like being able to say "Mama", to giggle, to smile and see both dimples.

It's been a tough week but we are so thankful that we get to spend it together.

Our week

This week has been really busy but good! We have found a few nurses that we feel are going to be a really great fit to help out at home. They are very sensitive to the fact that this is our time with Kaitlyn too and that we aren't looking for someone to take over, just to help out where we need it.

A few minutes without the oxygen tube on

Kaitlyn has had episodes off and on all week. It's been a real roller coaster ride but we are doing our best to keep her comfortable. Even setting an alarm to get up at 2am every night to give her more medicine! At least I have my phone set to play a harp at 2am and not a loud beep! :-)

Super duper fly!

October is Niemann-Pick Awareness Month. Many people have asked how they can help out and here is an easy way to help! The Niemann-Pick Disease Foundation has an 11-11-11 challenge. Each person gets 11 people to donate $11 to the foundation and then encourage those 11 people to also get 11 people to donate $11 and so on and so forth. Obviously, they are more than welcome to donate more than $11. Here is a link to the donation page:  Click here to donate to the foundation You can also donate by check (payable to NNPDF) or cash. On the foundation website, they have other resources to help get started.  11-11-11 Challenge Homepage

You can also donate on our blog for the challenge using Paypal.

IMPORTANT: Please make sure you put in honor of 'Kaitlyn Bourgeault' with your donation. The donations will be dedicated to the type of Niemann-Pick that she has, which is Type A, versus going into a general fund. Since there are only 5 children with Type A in the US, it is SO important that we raise money to help them fund research for this type, which is also the most severe type. 

Hope everyone has a great weekend! Happy Friday!

Fun times

Kaitlyn had a really great weekend. Yay! She has had only a few tiny episodes so it looks like the increase in Keppra is helping! She did have a fever on Friday and has felt pretty warm since. She has also been crying occasionally when she has a wet diaper so she will be starting antibiotics in case she has a urinary tract infection. She's had a few in the past so it's pretty easy for us to tell when one is coming on.

Hey everyone!

Holding Kaitlyn is one of my most favorite things to do. It doesn't happen very often because of the discomfort it causes her. With her liver and spleen being so large and her body having such little muscle tone, it really takes a toll on her anytime we move her. Normally, your liver and spleen are protected by your rib cage. Her liver and spleen are almost down to her hip bones! This is one of the hardest parts of the disease on us, as her parents. Not being able to just pick her up and hold her and squeeze her. We do it in our own way but it is difficult none the less.

Precious time together

There are so many things that you take for granted when you have a healthy child (we have one of those too!). The little things that seem so normal like sitting up, crawling, a simple smile or giggle. Every day we grieve the loss of these simple yet priceless things that are taken away from us.

Here is a video of Kaitlyn exactly a year ago!

While we grieve the loss of these things, we still cherish what we DO have- Kaitlyn. She is STILL with us and we remind ourselves of how blessed we are everyday to have her. We can tell when she is happy, whether she smiles or not and we love her just the way she is- amazing, beautiful, sweet, funny, and precious.

Hair fun!

When I was a little girl, I always loved having my hair played with and my sister, Jessica, and I would take turns braiding our hair. I thought Kaitlyn deserved some fun hair time too!

Hanging out watching a video

She also got to see her Granddaddy and Gran-Dot on Friday! We all had lots of time to play and spend time together. 

Cole being silly with Granddaddy

Meanwhile, Chip was at Amazing Makayla's homecoming game as her escort for Sophomore Class Homecoming Princess!

Amazing Makayla- stunning!

Walking out on the field during half time with Chip

At the game

On Sunday Chip and Pepere had the exciting job of baby-proofing the cabinets in our kitchen. The ladies had fun playing games...

Oh yes- that's us playing Headbandz!