The story of Cole

This is the story of Cole... the second miracle God has blessed us with.

Check out all that snow outside!
(December 26th, 2010)

Cole just turned 1, on December 26th, the day after Christmas. Happy Birthday Cole!

Birthday Boy!

Most of our family and friends know this already but for those of you who didn't know us back before Kaitlyn was born, we went through a really tough time. We had 3 miscarriages before we got pregnant with Kaitlyn. The doctors seemed to think that maybe I didn't have a lot of good quality "eggs" left or maybe I had a clotting disorder causing the blood flow to be restricted to the baby. Either way, we knew that time might be a factor.

Meeting Cole for the first time
in the operating room.

Knowing that we wanted more children, we decided to try for a 2nd child when Kaitlyn was about 7 months old. At that time we had no clue that Kaitlyn had Niemann-Pick Disease.

When Kaitlyn was about 8 months old, the doctors started questioning whether Kaitlyn could possibly have a genetic disorder. With this new knowledge, we immediately stopped trying to get pregnant- knowing that if it was genetic, it could effect a second child. Kaitlyn had blood drawn and was tested for a number of genetic disorders. The results took over 2 weeks to come in.

Our first family photo- all 4 of us!

April 13th, 2010

Even though we had stopped trying to get pregnant, on Thursday April 22nd, 2010, we found out that I was pregnant! I can't even begin to explain how excited we were and nervous at the same time with my history of miscarriages. The very next day, on Friday April 23rd, 2010, we got the call that Kaitlyn had Niemann-Pick Disease, Type A. A lifespan averaging between only 2 and 4 years old. My heart was shattered.

We went from being thrilled on Thursday to devastation on Friday. I remember it all too well. The phone call from Chip. Not only was our precious daughter going to die, the baby we just found out that we were pregnant with had a 1 in 4 chance of also having Niemann-Pick disease and dying as well, leaving us childless.

Saturday, April 25th, 2010, we didn't know what to do... so we went to the zoo.

We decided not to test the baby, since there was a miscarriage risk with any of the testing procedures and we knew that this would most likely be our last child. We just couldn't take that risk just for the sake of knowing. I also figured it would be better if I found out after the baby was out of me in case I got the news that both my children were going to die. It wouldn't have been healthy for the baby to have a complete mental breakdown while pregnant!

October 2010, Kaitlyn sitting on the Cole-bump!

Surprisingly, we were so busy with Kaitlyn, moving from Texas to North Carolina, and finding a new team of doctors in Charlotte that during much of my pregnancy I was "somewhat" distracted from the fact that our baby could have NPD. We were still trying to absorb the fact that Kaitlyn had NPD. Later during pregnancy, we talked with the doctors about our plans if the baby did have NPD. We decided that we would have the cord blood tested for NPD and if it came back positive, we would go to Duke University and have a cord blood transplant. The transplant wasn't proven 100% effective but it was the only hope we had in saving our baby if he had NPD.

November 2010

November 2010 when we let everyone know that his name would be Cole... we were getting "Cole" for Christmas!

After Cole was born, it took what seemed like FOREVER to get the test results back. I remember waiting on the phone with his pediatrician's office because they were looking for his chart. I remember feeling like this phone call was literally "life or death". The nurse came back on the line and told me that she couldn't find his chart but she knew that the results had been faxed in so if I could just hold on for another minute, she would check again. I can't tell you how long those minutes were knowing that finding out what our future had in store for us was only a few minutes away. She finally got on the phone and read the results. He does NOT have NPD, but he IS a carrier though just like Chip and I are, but he is going to be okay. I immediately started tearing up and looked at Chip and said "He's okay". It was one of the best days of my life!

He loves his big sis so much! January 2011

Cole has been such a miracle, from us getting pregnant with him at the very last chance possible to bringing so much joy into all of our lives. He is such a happy little guy and has made many difficult days a lot better with his sweet smiley self.

Snuggle-bug

We are beyond blessed to have him and he is such a good brother to Kaitlyn. When she cries, he gets worried and sometimes cries too. When her alarm goes off on her pulse/ox monitor, he stops what he's doing and comes over to check on her. He is really in tune with what's going on and loves his sister so much. When he was younger they would hold hands and smile at each other. Now he leans over and "kisses" her hand or arm without even us telling him to. He is also an endless source of entertainment for Kaitlyn. Although I think she could do without his love of drums! :-)

We are so proud of him and love him so much more than words can express. We talk so much about Kaitlyn on here that I wanted to share Cole's story and what a miracle he IS too!

Check out Cole's monthly photo with his bear from when he was a baby up until now! Click here.

Merry Christmas!

This is by far the best Christmas ever! We have both of our children here to spend it with (something we always hoped for but never expected) and we enjoyed every second of it! Merry Christmas from our family to yours!

Amazing Grace

This morning I woke up before everyone else in the house. I glanced at the video monitor and Cole was starting to stir and I could hear Kaitlyn's feeding pump making its normal turning sound. Then the first thing that came to my mind was the song "Amazing Grace". I haven't thought about that song in awhile but it seems so fitting for what we have been going through and I'm sure that's why I thought of it. Here is a version that is simply amazing!

Click here for the Amazing Grace Video by 7 year old Rhema

Even Cole can't resist touching Kaitlyn's hair!

Since the last post, a lot has happened and at the same time not a lot has happened. First of all, Kaitlyn is doing really well. We have started using Atropine drops under her tongue to decrease the amount of saliva that she has and it seems to be helping some. We haven't seen any negative side effects yet, although it doesn't taste good. Trust me, I tried it.

Daddy/Daughter Time

She has had few episodes and has been pretty content and even gave some of the biggest grins we have seen in awhile! We got to spend time with Granddad and Grandot (my dad and step-mom) over the weekend as well as Memere, Pepere and Makayla (Chip's parents and our niece). We even got to have take out dinner at home with our new friends, the Cook family. What a treat!

Smiling with Granddad

At the end of last week, we hit a slight snag in our plans for having samples taken from Kaitlyn's body after she passes away. We were informed that the pathologist wouldn't be doing a biopsy (injecting a needle to collect cells)  but rather a full autopsy. We definitely were not prepared to hear this and it threw a wrench into what we thought was our plans. Do we really want Kaitlyn's body to go through that? We called Dr. Wasserstein (NPD expert at Mount Sinai Medical Center) who has been coordinating the cell collection with the pathologist locally and spoke with her about what would happen exactly and what we are comfortable with and not comfortable with. We have always felt very strongly that we want to help find a cure for NPA or at the very least, help experts get more information about the disease. We know that we were given Kaitlyn for a reason and we know that we are her parents for a reason.

Cole gives "kisses" with his forehead

We expressed our concerns and Dr. Wasserstein said that she would talk with the pathologist to make sure they do only what is necessary to get the samples. We obviously won't be looking for a cause of death as with typical autopsies. Also, we want to make sure any incisions are as small as possible, again, only what is necessary. The reason for the procedure is much different than what they are used to so communication in what we are okay with and not okay with is really important to us. We feel good about our decision to continue with our plans to gather samples from different systems of the body to further the research on NPA. A phrase that popped into my mind throughout the end of last week when we were trying to figure things out with the samples was, "If it's meant to be, it's up to me". It just kept running through my mind over and over. Although I would probably modify that statement by including God and not just "me". God had led us through all of this and guided our decisions. We will continue to look to Him for guidance.  

Crazy hair!

I still think back to August when Kaitlyn first started having apneic/seizure episodes and can't believe that she is still here with us. I truly am amazed at her strength and ability to persevere with this disease. I felt that we would be lucky to get to Thanksgiving and now she is still here and it's almost Christmas! We are so thankful and blessed and again, AMAZED.

And the greatest of these is ...

Lately I have been thinking a lot about what Kaitlyn has taught us and she has certainly shown us it’s all about perspective and what’s important. And sometimes that means shifting your perspective so that you can focus on what’s important. With Christmas looming we are all in a rush to make sure we get those that matter most to us just want they want, but when thinking of Kaitlyn it seemed like a challenge to figure out what she wanted for Christmas until I really listened to her. See Kaitlyn doesn’t get excited about toys or books or movies much anymore, but deep down inside love still moves her to get so happy she squirms and wiggles, her eyes light up, and she tries her hardest until that pretty little smile is on her face. When seeing her smile I am reminded of 1 Corinthians 13:13 “And now these three remain: faith, hope and love. But the greatest of these is love.”

When a person has lost everything else, love is what matters most deep inside. Love from those around us, and God’s love. No toy or book has ever made Kaitlyn smile like she does when daddy or mommy get down next to her and tell her how much we love her. And as parents when it has felt like everything is falling apart we have been ever comforted in the hardest times by God’s love. For me that really puts life and the Christmas season in perspective. It’s about love and the gift of love, a gift we were both given and have the ability to give that doesn’t cost a thing.

John 3:16 “For God so loved the world that he gave his one and only Son, that whoever believes in him shall not perish but have eternal life.”

Now I love Kaitlyn and know what it’s like to love her so much that I will let her go when she is ready, but that’s because I can’t control the outcome. I can’t even begin to fathom the level of love it would take to willingly give your child up to die for others when you know and can control their fate. Love is truly an amazing gift!

So for everyone rushing around and worrying whether they have just the right gift, listen to Kaitlyn for a hint, what they want most and what matters most is love, so don’t leave that off your list!

Pepere's love makes Kaitlyn smile too!

What a weekend!

This past weekend was filled with lots of blessings and lots of concerns. Kaitlyn is starting to have more pain and irritability that we can't get to go away with our "normal" tricks (repositioning, opening her g-tube to see if there is air in her belly, reading books to her, watching videos, cuddling). We don't know for sure where the pain is coming from but our best guess is that it's coming from her growing belly. Her belly is really getting big, especially right under her rib cage at the top of her belly. It's almost hard as a rock in that one area. This is normal for a child in the later stages with NPA. Since her liver and spleen are so large and keep growing bigger and bigger, it pushes up against her lungs, making it more difficult for her to breathe.

Not feeling well

Stephanie, RN, our hospice nurse, helped us recognize that Kaitlyn isn't always using her lungs to breathe. She will have episodes where her breathing changes from her chest rising and falling (normal breathing) to using her stomach muscles to push in and out to help her breathe.

Finally getting some rest

 



We know the path that NPA is taking us down but it isn't easy to see the changes and know that she is in pain. In the past, we have used her pain medicine, morphine and valium, as needed, but we are now facing the reality that it may become part of her daily routine.

Not feeling so well, upstairs watching Tinkerbell

Kaitlyn still has good days but when she has bad days, they are starting to get pretty bad. Our priority is her health and well-being. It's so hard as a parent to have to give your child medication like this but we know that we are doing the best thing for her, to make her pain go away.

I got to hold her while she napped and it didn't hurt her!!!!

On a different note, over the weekend we had the pleasure of spending some time with a family who has been touched by Kaitlyn's journey. Some of our friends have shared Kaitlyn's story with their other friends, whether through Facebook or the 11-11-11 Fundraising Challenge and we were able to meet one of these families. Their daughter just turned 2 and for her birthday party, instead of gifts, they asked their friends and family to donate money to the Niemann-Pick Disease Foundation and/or Kaitlyn's Fund. They had never met us before this weekend but they were so touched by Kaitlyn that they decided to do this act of generosity.

I've said it before but THIS is the reason Kaitlyn is here. She has the ability to touch people's hearts, whether for a day or forever. Although we wish we could change the outcome of this disease for her, we know that BECAUSE of this disease and what she is going through, she is able to fulfill her purpose on earth and do God's work.

A smile with Memere :-)

We are so thankful for what the Cook family did and we look forward to spending more time with them. A HUGE thank you to all of their friends and family who donated to the Niemann-Pick Disease Foundation and/or Kaitlyn's Fund. It means SO much to us and to the other families who have a child with this disease.

Thank you God for Kaitlyn and for the many hearts she has touched and will continue to touch. We are so blessed to have her in our lives.    

Loving books with Cousin Makayla!

Update

We've had a pretty good couple of days. Kaitlyn seems more like herself lately. Hopefully that means that she is getting over the virus and infection completely. She did have a few seizures this morning but her medicine helped her to not have any more for the rest of the day. Cold and flu season seems to have arrived! It seems like there are so many people who have been sick lately that we are all just trying to stay healthy.

Pigtails!

 

She can save the world

A rare moment

Getting some much needed Zzzzzs

Our little drummer boy

Our Curly Girl

Kaitlyn seems to be getting over the virus and infection!!! Honestly, I wasn't sure how she was going to do it but she did. Even on Monday, the hospice nurse had said that on Friday she was really worried about Kaitlyn. Kaitlyn's breathing and congestion has gotten a ton better but she still has a little bit in there. Sorry there aren't any new photos. Kaitlyn hasn't been up for pictures lately. I do have some funny ones from the past to share though that I thought you would get a kick out of.

WAY past her bedtime (May 2010)

Things have definitely changed a bit in the past week in her daily routine. She's still having a really difficult time napping during the day so we split our time downstairs and upstairs where it's really quiet. Sometimes she will just stare at the wall instead of take a nap. It's really hard to see her unable to relax enough to fall asleep on her own. We do all that we can to try and her quality of life the best it can be, even if that means transporting all of her equipment upstairs and downstairs multiple times a day so that she can get some rest and also have time to hang out with Cole in the family room.

Baby Kaitlyn striking a pose (Aug. 2009)

Gimme the flower!!!! (Jan. 2010)

Her saliva has been a BIG issues. The past few days I feel like I am constantly suctioning out her mouth and nose. I even had to deep suction her a few times when she had a lot of congestion. That's where you run a thin tube up her nose, and all the way back to her throat and suction all the gunk out. Poor thing. It's just as bad as it sounds but since she can't manage her saliva or drainage from being sick, it has to be done to prevent it from going into her chest and developing into pneumonia.

Too much sugar! May 2010

This is her "teenage" face (Aug. 2010)

What you lookin' at?! June 2010

Daddy!!!! June 2010

I am convinced that the Robinul isn't worth the benefit. So much so that I threw the bottle of tablets in the trash today. It's really hard to hear Kaitlyn choking on her saliva, even when she is laying on her side. I automatically want to give her something that will make it better. The Robinul DID make it better. It just caused her to have more seizures, constipation and a higher heart rate. In doing some research it also mentioned urine retention, which we saw also. It's just not worth it so we are taking a different approach and decreasing her water intake. She will get the same amount of calories in her formula but won't be getting as much added water throughout the day. We started this last night and I feel like her saliva has definitely decreased some but it is still a problem. We also have some atropine drops to put under her tongue that will help with the saliva but they can also potentially have some of the same side effects as the robinul so we are going to try the water reduction first and then try the drops if it's really bad.

Hey, I want to take some pictures! May 2010

Yesterday, amongst figuring out what we were going to do about Kaitlyn's saliva issue, we got some really great news! Many of you remember the 11-11-11 Fundraising Challenge that the Niemann-Pick Disease Foundation put on to fund research. Well, In honor of Kaitlyn, all of YOU, helped raise the most money for Type A/B! Over 139 people donated, reaching a total of $3770!!! THANK YOU for making a difference!

Lil miss priss (May 2010)

I am so proud to be Kaitlyn's mother and knowing that her life has helped make a difference is such a reward.

Smiles of the day

Better afternoon

Kaitlyn had a better afternoon than the morning. She got a good nap and then was awake all afternoon, but not in pain and not having seizures! AMEN!

Looking forward to moving her back downstairs tomorrow so we can hang out with Cole and Gigi and get into our normal routine.

Her congestion seems to be getting a little bit better but she's still running a low-grade fever of 100.5. She's not out of the woods yet with this virus and infection but she seems to be on the right track.

Jordan, RN will be checking in tomorrow to see how Kaitlyn is doing. Hopefully tonight she'll get some good rest and feel better in the morning.

Thank you to those of you who continuously pray for Kaitlyn and send us positive messages through email, Facebook, phone calls, letters and cards that you send. It means SO much to us and we really can't thank you enough.

Rough Morning

This morning has been really difficult for Kaitlyn. She has been upset and in pain and has had at least 6 seizures already and it's only 10:35am. She also started having a few apneic episodes, where she stops breathing, during her sleep, which is abnormal for her. Her heart rate was up and oxygen was down a bit while she was so upset earlier too. We have given her morphine for the pain and diazepam for the seizures. She is finally resting. Praying that her day gets better!

Saturday Afternoon

Kaitlyn has been able to take some really good naps today! While she loves hanging out with her little brother downstairs, it has helped her so much to be upstairs where it is really quiet without all the drum banging and musical toys. :-)

Jordan, RN came by and checked Kaitlyn's lungs and gave her her 3rd antibiotic shot. She said that her lungs sound better than yesterday except when she lays on her back she still has a lot of "gunk" in her throat and upper airway. She could have a sinus infection along with the ear infections, which the rocephin shots would help with, which is good that we started that early.

It's times like these when your child's life is hanging in the balance that really makes you thankful for not only each day but every minute, every second that you have with your child. Kaitlyn is so strong. She's not giving up and neither are we.

We pray that her body is able to fully fight off the infection and virus and that she gets the rest she needs and is comforted by God's love for her and our love for her. Thank you for all of your continued support and prayers.

Saturday Morning

Kaitlyn was finally able to fall asleep for a nap around 4:30pm yesterday (Friday) and then woke up for a short bit and then slept the whole night until around 7:00am. She really, really needed the rest and I'm so glad she was able to sleep uninterrupted.

(Sorry I don't have any new pictures to post for today, but I have added some below from this time last year. Amazing how much has changed!)

This time last year- Daddy and Kaitlyn putting the angel on the Christmas tree

This morning she still sounded really congested in her throat, nose and sinuses. Her lungs are already compromised due to NPD. The storage material that builds up in her body, called sphingomyelin, builds up in the lungs causing it to be more difficult for her to breathe adequately. That with the added pressure of the enlarged liver and spleen make her lungs a weak point for her, especially when she gets any sort of respiratory virus or infection.

This time last year

This time last year

She is on the full 2 liters of oxygen- the safest level for continuous oxygen for her. We usually have her on 1 and a half liters. I feel like the added oxygen will help her lungs get what they need so that her body can focus on fighting off the infection and virus. We have also had to suction out her nose and throat a lot since she can't swallow efficiently enough to clear them.

This time last year- baby shower for Kaitlyn's little brother Cole!

Jordan, RN will be stopping by this afternoon to administer the last rocephin (antibiotic) shot and to listen to Kaitlyn's lungs to see how they sound compared to yesterday. We are praying that there won't be a need for a chest xray. Kaitlyn is at home upstairs today resting and that's where we plan to stay!

Upstairs

Kaitlyn's congestion has gotten worse since yesterday and she is still having a tough time getting comfortable. It is really difficult for her to take a nap which she desperately needs. I have brought her upstairs for the day since it is quieter up here and hopefully she will get some rest.

We have switched to a face mask for her oxygen instead of the nasal cannula since she is breathing through her mouth a lot. It is working really well. I don't think she particularly likes the mask but it keeps her oxygen levels up, which is good.

Hospice nurse Jordan will be here this afternoon to check on Kaitlyn and to administer her 2nd Rocephin (antibiotic) shot. They will listen to her lungs and give us an update on whether the congestion is spreading to her lungs or not.

Please pray for Kaitlyn to be able to get comfortable and rest and to not be in any pain. Thanks everyone!