Monday, December 15, 2014

Getting back to the heart!

It's that time again...  On Wednesday, Amelia will be seeing her cardiologist and also having an echocardiogram to be sure her aorta has not grown.  Please pray that we will not see any growth, that Amelia will tolerate the test well and that God will give her doctor wisdom regarding the results.  I will be sure to update the blog after the appointment and what else has been going on these last couple months!  In the meantime, as always, thank you for your prayers! 


Our little blossom!


Wednesday, October 22, 2014

Our little go-getter!

9 months!
First of all, thank you to all our awesome prayer warriors on behalf of our Amazing Amelia!  We truly believe He hears each and every one of your prayers!  A few weeks ago, Amelia had an MRI/MRA to get a closer look at her aorta dilation and the rest of the heart and also to look at the arteries from head to pelvis to rule out any other aneurysms.  We had a rough start with some miscommunication over what was actually ordered and what needed to be done, but once the kinks got worked out, it went pretty well. Through it all, Amelia was a rockstar!  We were so proud of her!  She did have a reaction to the anesthesia with some nausea and vomiting, but they gave her some anti-nausea meds and she was good to go!  We were already seeing smiles before we even got in the car.  

We received a call just over a week later and they did not find any other aneurysms!  Praise the Lord!!  They did find that Amelia has tortuous vessels in her neck, however we were not surprised by this news since a lot of LDS (Loeys Dietz Syndrome) patients have this.  Basically, her vessels are twisty, where normally they're straight.  But, as far as we know it does not cause any issues, praying that's the case!  Her heart remains stable which is great news!  Although, her cardiologist did increase the dosage on her meds because in talking with the cardiologists that were in on the MRI, they agreed that even though the dilation in her aorta remains stable, she's still not in the clear.  Pray that the increase does not cause any side effects and continues to do it's job!  

Right now, we continue to watch Amelia be her amazing, very determined self.  She does not stop!  She has been crawling for well over a month (with and without braces) and is now trying to pull herself up on everything!  In fact, one of my favorite moments was when she crawled for her therapist for the first time...she was so excited, she started screaming!  Oh, how that made my heart leap for joy.  Amelia has some wonderful therapists that have a special bond with her; although, she's been seeing them every week since she was only 2 weeks old!  I would say that makes them a pretty special part of this journey.  Thank God for these blessings!  

"The Lord is my strength and my shield; my heart trusts in Him, and I am helped.  My heart leaps for joy and I will give thanks to him in song."  Psalm 28:7

As part of her therapy, they continue to work on getting her knees to straighten out.  She has certainly made progress, but they're still contracted (unable to straighten), with her right leg being a little tighter.  So, now they'll be adding some equipment/gear to help straighten them even more.  Last week she was fitted for a SPIO and knee immobilizers.  The SPIO works on her trunk and the knee immobilizers gently stretch her knees.  Her therapist is also working on getting her into a "stander."  That's basically what it is and does...helps her stand.  She has the SPIO (and knee immobilizers) on in these pictures.  


Amelia is almost 10 months now and has exceeded our expectations!  She doesn't even seem to be bothered by any of this and is just so happy!  It's been so fun to watch her grow!  We can't wait to see what else God has planned for her!  

"We will shout for joy when you are victorious 
and will lift up our banners in the name of our God."  Psalm 20:5

 THANK YOU again for all your prayers!!!  I really mean it when I say it means so much!  

Saturday, August 2, 2014

Loeys Dietz Syndrome

An official word in our vocabulary now and used quite a bit these days...Loeys Dietz Syndrome.  About a week ago, we met with Amelia's genetics doctor and counselor to go over the results of the genetic testing and they confirmed Loeys Dietz Syndrome (LDS).  We expected these results, but it was a reminder that this is a lifelong battle...it's not going to end here.  LDS is a rare disorder that affects the connective tissue and there is no cure.  Because we have connective tissue throughout our bodies, people with LDS can have many complications, among the most common being vascular, skeletal, allergy and gastrointestinal issues.  Because of this, Amelia will be tested in the near future for scoliosis and have an MRA from the head to pelvis to identify arterial aneurysms.  

This past week we saw Amelia's hand surgeon and eye doctor.  Her hand surgeon anticipates some surgery on her pinky when she's done growing.  As for the eyes, we will follow up with the eye surgeon in 3 months to probably start patching and discuss possible surgery to correct an issue with coordination of her "v pattern."  This means that when she looks up and/or to the side, she loses coordination.  Please pray that surgery is not necessary.  All surgeries make me nervous, but any surgery on the eyes makes me really nervous!
         
Her weekly treatment continues on her hands, knees and feet.  She still has to wear her braces around the clock, but I took them off so you could see how good her feet look!  She loves to play with her feet when they're off, which I love to see, but makes me sad she can't do that all the time.  Oh the things we take for granted.  But, she doesn't even seem to notice.  In fact, regardless if they're on or off, she's trying to crawl!   


Despite these complications, we are very optimistic and hopeful for the future!  Maybe it's the known vs. the unknown.  I remember when I was pregnant with Amelia and the worry over the unknown would at times consume me to the point I could hardly breathe.  Now I look at my beautiful baby girl who brings us so much joy, I know everything about her was meant to be and I am beyond thankful for our Amazing Amelia.  Now we can move forward and hopefully provide Amelia with the best care possible in light of this diagnosis.  

"As far as I am concerned, God turned into good what you meant for evil."  Genesis 50:20



As part of this journey, about a month ago, Nels, Amelia and I were able to attend a Loeys Dietz Syndrome Conference in Baltimore, Maryland.  What a blessing that was!  We learned more about this disorder, what to look for, and possibly expect in the future.  I already feel more confident going into appointments with Amelia, knowing the posibilties. 

A very special man, Dr. Dietz!
At the conference, we heard a panel of physicians speak that specialize in LDS, as it specifically relates to the vascular system, orthopedics, allergy and gastrointestinal concerns.  We were especially excited to hear THE Dr. Dietz and THE Dr. Loeys speak.  
Amelia was star struck too!  :) 
Dr. Loeys!  He held her for a long time...I don't think he wanted to let her go.








Most importantly, we made some wonderful connections with other parents that are on the same journey, fighting the same fight!



Gretchen!

When we first found out about LDS, I of course had so many questions, but most importantly I was concerned about the treatment options (or lack of) that we were being given related to Amelia's serious heart condition.  Gretchen, the genetics counselor that works with Dr. Dietz at John Hopkins University, contacted me personally!  This was our first connection to Dr. Dietz and his expertise, so we were very excited about this.  I still remember that first conversation I had with her over the phone.  She gave us the information we needed to pass on to our cardiologist...and what good information that was!  It saved her life!  Needless to say, we are very thankful for Gretchen and her part in our journey! 


In a previous post, I had quoted Mo Jurgens.  Mo's mom, Kate, wrote a memoir about Mo's life and the many obstacles they faced as a family through a lot of unknowns.  I have been reading this book, as it's been a great resource to me not only as a mom, but as we take this journey with our own daughter.  Mo was diagnosed with Loeys Dietz Syndrome at age 9. She has had 27 surgeries in her young life.  She will be starting her sophomore year in college for nursing this fall.  What a great nurse she will be!  I was so excited to meet them both...I have to say, I was star struck!  :)  

So, not only did I get to meet both of them, but before I really had a chance to get to know her, Kate took Amelia from me during one of the sessions so that I could listen, so cool!  I could only smile and thank God for stringing together every little detail; oh how He knew I would need that connection as a mom.  Not to mention many other moms that were instant friends!  Amelia was the youngest at the conference, so these moms have been where we are at right now and were quick to make sure I knew they were there for me if I needed them.  Exactly what I needed! 

The weekend went by so fast...I feel like I'm still taking it in.  Then I realize, Amelia is only 7 months old and I think back to all we've been through in this short time; life and death were thrown at us within months of each other and here we are now, watching our baby girl roll around, smile, talk and giggle!  Sometimes I feel like I'm just watching from the outside.  I can only say I have so very much to be thankful for!  God is without a doubt using Amelia to teach me so much!  

"Don't worry about anything; instead, pray about everything!  Tell God what you need, and thank him for all He has done.  If you do this, you will experience God's Peace, which is far more wonderful than the human mind can understand.  His Peace will guard your hearts and minds as you live in Christ Jesus."  Phillipians 4:6-7

If you would like to learn more about LDS, please visit www.loeysdietz.org. In fact, as you pray for Amelia and our family, pray for the foundation, as well, as they continue to give so much of themselves in educating others about LDS, fostering research and supporting those affected by it.  I was reminded again this week of how rare this is.  Out of the many doctors and medical staff that have been involved in Amelia's care, her cardiologist has been the only one that knew anything about it.  THANK YOU again and again for your prayers and support!       

Wednesday, June 11, 2014

More good news!

Feeling pretty tired tonight, but couldn't go to bed without sharing the good reports we received today.  Amelia's aortic root is still dilated and has not decreased in size, but it is not growing either and considering Amelia has almost doubled in size from her birth weight, this is great news!  Amelia even had some big smiles for her doctor!  However, he wanted to be sure we understood it is still very large, but we're hopeful the medication will continue to keep it stable until she's able to have surgery, hopefully when she's older (like in her 20s even).  At this point, he will keep increasing the Losartan every 2-3 weeks until we reach a dose that's recommended for patients with Loeys Dietz Syndrome.  She will also continue on the beta blocker.  We will see him again in a couple months and do another echocardiogram of her heart at that time.  Pray the good news continues! 

Tomorrow Amelia has her weekly physical and occupational therapy; pray she tolerates it well!

After we got home from the appointment today and Nels went back to work, the kids were playing downstairs, Amelia and I danced to "Praise the Lord" by the Imperials.  If you get a chance to listen to this song, it's an oldie, but goodie!  I love to just sing it at the top of my lungs because Satan is not going to win this one!   

When you're up against a struggle that shatters all your dreams
And your hopes have been cruelly crushed by Satan's manifested schemes
And you feel the urge within you to submit to earthly fears
Don't let the faith you're standing in, seem to disappear

Praise the Lord, He can work through those who praise Him
Praise the Lord, for our God inhabits praise
Praise the Lord, for the chains that seems to bind you
Serve only to remind you that they drop powerless behind you
When you praise Him

Now Satan is a liar and he wants to make us think, that we are paupers
When he knows himself we're children of the King
So lift up the mighty shield of faith for the battle must be won
We know that Jesus Christ has risen so the work's already done!

Tuesday, June 10, 2014

Psalm 118:24

 "This is the day the Lord has made; let us rejoice and be glad in it!"  Psalm 118:24


We have so much to be thankful for!  God has certainly blessed us with an energetic, joy-filled baby girl!  2 months ago, I was just hoping I would have her and God has far exceeded my expectations!  This morning we had a visit from one of Amelia's physical therapists and it was a very encouraging visit.  She used words like, "...determined, strong, so alert, vocal, sharp, cognitively right on, firing off with vigor!"  Wow, I just smiled.  Praise the Lord for our Amazing Amelia!  To think about the day we brought her home from the hospital and wondering what would come of all the negatives we were left with...I was most concerned about her brain.  God has answered so many prayers from so many of you!  THANK YOU!!!  Never ever doubt He hears each one of those prayers! 



So, since my last post...

We sought out another opinion from another cardiologist.  We were referred to him by a friend of a friend...another answer to prayer!  He not only worked for many years in a hospital that saw patients with Loeys Dietz Syndrome (LDS), he has spoken with Dr. Dietz a couple times.  This was so reassuring!  It has been difficult to find any doctors that have even heard of LDS.  After the first visit, we felt confident he was really doing what's best for Amelia considering her condition.  So, tomorrow we have a follow up appointment with him and an echocardiogram to check the size of the aortic root.  Pray for another reassuring visit with good test results!      

At that appointment I also plan to discuss a couple things with her doctor that seem somewhat minor, but could be related to the medicine she's taking.  She still has trouble sleeping...this is not good....mommy is very tired!  :)  She also does not travel well at all.  She never has, but I was hoping she would have grown out of it by now or get used to it.  She cries so hard at least half of the trip there and back...with at least one appointment a week, sometimes more, this has been tough.  And, of course, all I can think about is her heart.  I know even the small details matter to God, so please pray that Amelia starts getting more sleep at night and starts to also tolerate the car better.  

In addition, Amelia's cardiologist also feels it is important to have Elsie and Sam tested to rule out an aortic root dilation.  Since Amelia's heart condition is congenital, he said it's possible they could have the same thing.  So, they will both be having echocardiograms to rule this out.  I am not really worried about this, but it's still a possibility, so please pray their hearts are perfectly healthy!  And, also pray that they (especially Sam) tolerate the testing well.  



In ending, my niece made a picture for Amelia for her baptism and I just love to look at it.  Addison, God is answering your prayers! 

   


Sunday, May 4, 2014

4 months and counting!

The last few days as I hold Amelia, I wonder where the time has gone!  Although, the first few months of her little life were pretty full of appointments.  This month will be a lighter one with only the weekly therapy and one appointment to check her braces.  It's nice to be able to just be home and not have to get out of the house.  Amelia loves to just lay on the ground under her gym and reach for toys.  It's so fun to see her develop and work to use her hands; she has certainly come a long way in only 4 months.  She's almost rolling over...yes, braces and all!  She's still very happy most of the time, in fact just yesterday I was sure I heard her laugh.  I tried to get her to do it again, but she just stared at me like, "what are you doing?"  :)  So, I'm sure it's right around the corner and I can't wait!


Thank you for your continued prayers!  Just to update you on where we are at...  The eye doctor found some things with Amelia's eyes, but he wasn't concerned because he thinks she will probably grow out of it, as most newborns do.  Although, we have heard that before....trying to stay positive.  He did confirm a couple of characteristics that Amelia has that line up with the Loeys Dietz Syndrome.  All in all, it was a good visit.

The braces are still fitting pretty good.  She still has a sore on her left foot by her big toe that looks like it hurts, but it doesn't seem to bother her.  We went to Mary Free Bed last week and they added some different padding to that spot to see if it will heal.  We'll just keep watching it and hopefully it only gets better...poor peanut!

Amelia's blood pressures continue to do good, so at this point, we will see the cardiologist again mid-June and have another echocardiogram at that time to see if the Losartan and beta blocker combination is working to stabilize the growth of her aorta!

Last week Amelia saw her pediatrician.  He was concerned about her weight because she had not gained very much since her 2 month check-up.  Amelia's cardiologist also wants to be aware of any health concerns when they come up, so we let him know and so we had an appointment to check her weight and blood pressure again on Thursday.  Amelia's appointment with her pediatrician was on Tuesday and she weighed 11 lbs., 10 oz.  When we were at cardiology on Thursday, she weighed 12 lbs., 3.4 oz.  I think that's a pretty good weight gain in 2 days!!  Way to go, Amelia!  Praise the Lord!!  However, we will continue to check her weight weekly until her pediatrician is satisfied with her progress. 

Amelia also seems to be extra restless at night these days.  She has never really been able to get the sleep thing down (who can blame her, she hasn't really been home enough to get into a routine), but lately it seems to be worse. She was up 5 times the other night, that was almost every hour.  Thankfully, Nels is very good at getting up with her so that I'm not totally exhausted the next day, but then he has to go to work and I don't want him sleep deprived on the job either!  And, I am not about to "let her cry" because I know that increases the aorta dilation.  I know we can't protect her from getting upset, but I am going to do my best to keep her from getting to that point if I can help it.  Please pray that we can get into a better sleep routine.  Amelia's doctor is aware of that too and he said it could very well be related to her eating habits, so we have to get her to eat more than 3-4 ounces at a time if we can.  Pray that she will have a desire to eat more in one setting.

This week Amelia will have physical and occupational therapy on Thursday.  The last couple weeks did not go well at therapy.  She just did not want to be there.  Pray this week goes better!

I was thinking this week about the last post I wrote...  I want you to know that "Because He Lives," you can face tomorrow too!  That song was not only for me, but for anyone facing a struggle in their life.  It could be physical, emotional, spiritual, whatever it is, God cares down to the smallest detail.  This week, especially, I will have a dear friend on my mind and on my heart.  Her little boy was due to arrive on May 14, 2014; only 3 days after Mother's Day.  On March 14, Charlie passed away.  This would have been their first child that they waited many years for.  It's so very hard to know why this happened, but Charlie's parents believe in a God who has a great plan for their lives!  Please lift them up in prayer these next couple weeks as they face some tough days...

“I have told you these things, so that in me you may have peace. In this world you will have trouble. But take heart! I have overcome the world.”  John 16:33

Charlie's mom shared a devotional with me that has been so appropriate, even as we face different trials, it's simply called HOPE.  In one section of the book, the author, who lost a daughter and then a son at only 6 months of age, talks about God's presence and refers to Psalm 139:7-10.  I just want to share with you how amazing God's Word is!  This Psalm, that has, from the beginning, become so near and dear to me, speaks to me in every single aspect of this journey.  Looking at it in this way reminds me that Jesus is and will be there with us each step of the way.  From the joy of a new baby forming in my womb (vs. 13-16), to worry over her health and well being (vs. 1-6, and 23) and now a lot of questions and concern about her future, verses 7-10.

Where can I go from your Spirit?
    Where can I flee from your presence? 

 If I go up to the heavens, you are there;
    if I make my bed in the depths, you are there. 

 If I rise on the wings of the dawn,
    if I settle on the far side of the sea, 

 even there your hand will guide me,
    your right hand will hold me fast...

  

Tuesday, April 22, 2014

Because He Lives, I can face tomorrow!


I hope you had a very blessed Easter!  Easter...the very reason for our Hope!  It was a beautiful Easter service on a beautiful day!  The weather was so fitting...just gorgeous!  We sang "Because He Lives;" it brought me to tears...  Yes, truly, because He lives, I CAN face tomorrow and all the tomorrows after that.  Praise the Lord for that!!  I would have nothing if I didn't have Jesus!  Then there's a verse in the song about how sweet it is to hold a newborn baby as I held Amelia sleeping in my arms....I copied the song from the songbook below.  I absolutely love the hymns because each verse has such meaning that gets me every time!  After the service, I was asked if they played that song just for me...I certainly do believe God has every single detail of our lives planned out, and that was one of them.  :)


Smiles from all 3 at the same time!
Sweet sisters...
Enjoying the sun!! 
Amelia's blood pressure was good last Wednesday.  Down more from last time, so I hope that means the medication is working!  We will get another echocardiogram in a couple months to see if it's actually working to stop the growth of the aorta.  I'm already nervous for that appointment.  I told a friend of mine today that during the day it's not so bad, I go about doing what I need to do, trying to spend time with all the kids...but, then all of a sudden it will hit me and to think that it's all riding on this medication alone, it makes me sick to my stomach.  That's when I have to remind myself that it's useless to worry about it.

"Therefore do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own."  Matthew 6:34

Today Amelia starts physical therapy on her legs and will continue occupational therapy on her hands and upper body.  For those of you that don't know (I didn't at first either), physical therapists work with lower extremities and occupational therapists work with upper extremities. 

On Wednesday, we have another full day.  We were referred to an opthamologist.  With different syndromes, there can be issues with the eyes, so the sooner we find that out, the better.  We don't anticipate any issues since Loeys Dietz Syndrome typically does not have problems with the eyes, where Marfan Syndrome does.  But, since we will not have the genetic test results back yet for a while, we need to be sure.  A little bit about that...  They are testing Amelia for a panel of 12 different syndromes (3 of them being the 3 types of LDS) where a lot of the characteristics overlap, but then there's a few characteristics that are only found in certain syndromes that are not found in others.  Amelia has at least 3 characteristics of Loeys Dietz type 1 that are not found in the other syndromes.  However, in the meantime, we have to cover all our bases, which I am okay with.  Pray her eyes check out good! 

She will also be seeing Dr. K on Wednesday to check on her braces.  She already has some padding and a silicone spot for some pressure sores that she was getting and those were getting better, but now there's a couple spots that have shown up again.  Hopefully it will be an easy fix, otherwise, they said they will have to make a mold to her feet if they don't get better....not exactly sure what that all entails, but it reminds me a little too much of the casting, and for Amelia's sake, I'm not ready to go back there yet.  Pray for an easy fix! 

Lastly, we'll stop by her cardiologist to get another blood pressure check and if all is good, they'll up the dose again.  Praying we can increase the dose and get closer to our goal! 

Again, thank you for all the prayers and all kinds of support!  I would love to list all the ways we have been blessed, but I don't want to accidentally leave someone out, so please know that however you have helped us, you are truly a blessing and we thank God for each of you often!  However, I can say that all the many cards we have received (from that first ultrasound) and still receive are awesome!  I have each one sitting in a box by the chair where I do my devotions and quite often I will start just going through them again and I am so encouraged!  Someday (probably in the very distant future) I would love to make a book of all the cards, messages, emails and texts I have received along with the many pictures I have taken along this journey!  God has been good! 

Leaving you with my one of my very favorite Easter hymns ~ "He Lives!"  I serve a risen Savior!  I so enjoyed singing this on Sunday.  "You ask me how I know He lives?  He lives within my heart!"  


Sunday, April 13, 2014

One day at a time...

Amelia is over 3 months old already!  She is so fun right now.  She loves to smile and coo and now figured out how to roll her tongue, blow bubbles and even roll over!  I just love it!  She is a very happy baby...for the most part!  :)

The week before last was a busy one with at least one appointment every day, complete with a short hospital stay.  On Monday, occupational therapy again went very well.  Tuesday, we met with another cardiologist.  Wednesday she got her new braces on.  Thursday she was in the hospital all day for observation of her blood pressure after starting a new medication.  Friday we had to get her braces adjusted because she was getting some pressure sores on her feet and ankles.  Last week we had therapy, a braces check and blood pressure check.  Each appointment went fairly well; some of the nurses even got some smiles from Amelia! 


sleeping beauty



 
Taking a much needed break from casting and braces!

Where we are at....well, the second opinion was not too different from the first; however, we felt it was a little less urgent and a little more optimistic.  Amelia is now on a couple medications that they hope will stop the aorta from growing; a beta blocker and blood pressure med, Losartan.  Studies have shown that using Losartan in patients with Loeys Dietz Syndrome (LDS) have given them good results, although, according to Dr. J, these studies are still going on.  Losartan is a blood pressure medicine they use for adults, so it had to be formulated for Amelia's size.  To be sure she can tolerate it, each week they will increase the dose (a total of 4 times) and at the end of that week, check her blood pressure to be sure it's where they want it to be.  Last week, after being on it for a week, her blood pressure was really good.  Surgery is still not an option at this point, so basically, we really need this need medication to work!  Pray that the blood pressures continue to do well and that this medication will be our miracle!  

Last night was Amelia's first decent night of sleep since she was put on the medication and had her braces fitted over a week ago.  She was waking up every 2 hours or less and very restless during the day too.  There are some side effects to the medications (most likely the beta blocker) that could be hard on her or it could be her braces.  Please pray that she adjusts well to both the medicine and braces.  Also, that if she is experiencing side effects from the medicine that they will resolve quickly!   

It's difficult to really say how I am feeling.  I'm still not satisfied with the answers we're getting, but maybe because I have a hard time believing or even just accepting that medication alone will save my baby girl. That's where your prayers come in!  I do believe God can work through whatever means He has to, so then I have to trust Him too.  Pray God gives us wisdom to make the right decisions on behalf of Amelia and also for the doctors, that they will have wisdom and do their very best in giving her the care she needs.  


Following the appointment with the cardiologist on Tuesday, as we walked out the same doors we've walked through to our car at least 20 times in the last 3 months, I thought to myself...I am already a better person for having known my sweet Amelia.  God has truly blessed me with an amazing gift that I would have never asked for; the reward in it is more than I could have ever imagined or can even explain.  Each day with her is another day to cherish.  My other 2 beautiful children have also blessed me in countless ways, but I was so focused on being a good mom and teaching them, now I feel like Amelia is teaching me....not only to be a better mom, but a better everything!  And for that...I am thankful.

"Against all hope, Abraham in hope believed and so became the father of many nations... he did not waver through unbelief regarding the promise of God, but was strengthened in his faith and gave glory to God, being fully persuaded that God had power to do what He had promised."  Romans 8:18, 20, 21
  
THANK YOU for your continued prayers!!!  

P.S. I have heard from some that they haven't been able to post comments on the blog, let me know if you have a problem with it, because I love reading your comments!!  :) 
Also, I want to apologize to all of our faithful blog followers and prayer warriors; I meant to update this much sooner!  

Friday, March 28, 2014

Every day is a gift...

"I want you to understand that this is serious...this is very dangerous to her...this could take her..."  These are the words we heard from Amelia's cardiologist just a week ago.  They still play over and over in my mind.  Amelia had a follow-up with her cardiologist because they noticed an increase in her aorta at 2 weeks old ("aortic root dilation").  This time it had grown drastically at an increase that he did not expect to see; so he had to prepare us for the worst.  He said they could do surgery and you could replace this part of the aorta, but then the rest of the aorta is affected, and therefore it wasn't an option.  The plan then was to put her on medication and hope for the best, but we have to know that it may not work that well.  Then it was question and answer time...  I just wanted to get out of there as soon as possible.  But to where?  Where can you run from news like that?  We asked some questions we never thought we'd be asking...  How long does she have?  Is all this treatment on her hands, legs, feet worth it?  Is this condition painful for her?  How will we know if something is wrong?  We don't know how long she has; high rate of mortality in the first 5 years...yes, the treatment is worth it....no, it's not painful for her..."for a baby with an aortic tear, it's going to take her and you're not going to know it."     

After the doctor walked out of the room, Nels was holding Amelia and staring at her through sobs... I looked out over the city and it was getting busy; it was 5:00 so the workday was done.  I had just heard that I could wake up tomorrow and my daughter could be gone...how could it be?!  Her life has hardly begun!  But, life goes on... Through many sobs and tears, we finally made our way home. 

Today...  this last week has been a whirlwind.  On Friday of last week, they wanted to admit Amelia to regulate the new blood pressure med they were putting her on, and then they decided to back off a little and first start her on a "beta blocker."  In layman's terms, I understand this will loosen up her vessels so that there's not so much pressure on the aorta.  The plan is to eventually start her on the blood pressure med (formulated for her size, but used frequently in adults).  Studies have shown that using this particular medication has given them some good results with patients diagnosed with Loeys Dietz Syndrome (LDS).  LDS has become a common term around here in the last few weeks.  Along with a few other characteristics, this heart issue leads them to believe Amelia has a connective tissue disorder, most likely LDS.  The blood work has been sent in and we will wait anywhere from 12-24 weeks before we know if this is, in fact, what Amelia has.  Therefore, at this point, they are treating her as such.

On Tuesday, we are going to get a second opinion from another cardiologist in the same office.  In fact, I was also able to connect with a genetics counselor from John Hopkins this week who works closely with the Dr. Dietz.  She gave me a phone number for the cardiologist to be able to contact Dr. Dietz directly!  Our Great God at work!!  

This week Amelia had occupational therapy on her hands and it went so well.  Nels and I were both very encouraged.  On Wednesday, Amelia had her last cast put on and was fitted for braces.  That appointment also went very well.  We will be revisiting the casts at another time, but for now, we are going to celebrate when that last cast comes off!  The bad news was that the braces will be on around the clock (except for baths) indefinitely.  The right foot is giving them a lot of trouble and until she has surgery on that foot (tendon transfer) she will need to be in braces.  Typically, they do not like to perform that surgery until the patient is about 5 years old, but in Amelia's case they will most likely do it a little bit sooner.  According to Dr. K., the tendons and bones have to grow in able to work together to accept each other.  However, my perspective has certainly changed.  We'll deal with braces as long as we have our little girl!  That's what matters most!

Removing the casts...just relaxing!  I'd say we're getting used to the routine!  :)

Lookin' good!

To end the toughest week in our lives, we celebrated Amelia's baptism this past Sunday...this was not by accident.  It was an absolutely beautiful service and without a doubt, I could feel God's presence.  As I looked out over the congregation, all I saw was love and care and support.  Then seeing our friends and family praising God with us for our precious Amelia meant more to me than words could ever express!  I realized at that moment...this is what it is all about.  God's plan for our lives could be drastically different than we ever planned or imagined; I NEVER thought from the ultrasound at 20 weeks that this journey would take us here, but I have come to believe (even when it's so hard) that God has a good plan.  Along each turn I have thought to myself, will I really be able to keep saying this if things take a turn for the worse?  I have to believe I will.  That doesn't mean it's easy and that's why I also believe this would not be possible without SO MANY lifting us up in prayer!  A line from one of my favorite songs right now, Oceans by Hillsong United, "Where feet may fail and fear surrounds me, You've never failed and You won't start now..." 

My dear blessings!!
"We want to do a silly one!"
So thankful to be celebrating with Gigi!  Great Grandma is 97 years old and Amelia almost 97 days old!  God is good!

Leaving you with a couple thoughts.  My mother-in-law introduced me to this book, Mo - A Loeys Dietz Syndrome Memoir.  This book was written by Kate Jurgens, whose daughter is 17 years old with LDS.  This is a quote from her book...

"So many activity restrictions...had lead to one of Maureen's deepest pleasure discoveries - reading.  Amelia Earhart captured her vibrant imagination and inquisitive mind.  'Mom, Amelia was so brave to learn how to fly.  She went ahead and did things people thought she could never do.  I don't know if I could be that brave.'" 

Psalm 61 has now become very special to us; it was the scripture at Amelia's baptism... 


Hear my cry, O God; 
listen to my prayer
From the ends of the earth I call to you,
    I call as my heart grows faint;
    lead me to the rock that is higher than I.
For you have been my refuge,
    a strong tower against the foe.
I long to dwell in your tent forever
    and take refuge in the shelter of your wings.[b]
For you, God, have heard my vows;
    you have given me the heritage of those who fear your name.
Increase the days of the king’s life,
    his years for many generations.
May he be enthroned in God’s presence forever;
    appoint your love and faithfulness to protect him. 
Then I will ever sing in praise of your name
    and fulfill my vows day after day.

Lead me to the Rock that is higher than I, dear God...




Tuesday, March 18, 2014

What is arthrogryposis?

A lot of you have inquired about Amelia's condition and so I have been promising to deliver..  Also, an update on how she's doing.  

As many of you know, Amelia has arthrogryposis, which I also mentioned in an earlier posting.  The Wikipedia defines arthrogryposis as...

"Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint contractures in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (arthron, "joint"; grȳpōsis, late Latin form of late Greek grūpōsis, "hooking").[1] Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to do passive extension and flexion in the affected joint or joints.  Arthrogryposis is a not a diagnosis but a clinical finding. So this disease is often accompanied with other syndromes or diseases." (http://en.wikipedia.org/wiki/Arthrogryposis)

Amelia has distal arthrogryposis which means she has multiple contractures of her distal joints; her hands, knees and feet.  Her hands are clenched; sometimes they're really tight, meaning it's very difficult, if at all, to get one of my fingers in her grip.  Then sometimes they're a little more loose and I can slide my thumb in there for her to grab onto.  Her knees are bent at about a 100 degree angle.  And, then of course her feet; a severe atypical case of club feet.  It's hard for Amelia's doctors to tell us how long and what kind of treatment Amelia will continue to require because each step depends on how she responds to the different treatments.  However, they can tell us that there will be some form of treatment of the affected joints until she's done growing (or longer) because if you don't keep up with it, the joints will contract back into their original position.  Just out of curiosity, I looked up the average age a girl stops growing which is 18 years old.  We have fallen into a routine now of weekly (sometimes more) visits to the doctor and are starting to realize and accept that Amelia will require treatment for a long time.  

Tomorrow, Amelia will get cast #9 put on.  This last cast was on 2 weeks following her tenotomy and will be changed tomorrow.  Dr. K said the number of casts following this one will be determined on, again, how she responded to the surgery and casting this time around.  However, for future reference he did tell us that following this casting, she will be in braces around the clock and also start physical therapy on her knees.  Once they get a feel for what they can achieve with therapy, they will then do casting of her knees.

Her hands...  We are scheduled to follow up with Amelia's hand surgeon next week.  We met with him shortly after she was born.  He believes she will respond well to treatment, however he did confirm that because Amelia's hands will never fully open like ours, she will just function different than us, but she'll still be able to use them...that was good to hear.  So, in making sure that's the case, he said at this point, he does not suggest we get very aggressive with therapy and splinting.  He said splinting and exercises are fine, but whomever is doing it, has to really know what they're doing.  Relaying this to Amelia's therapist and then fine tuning her treatment was a little bit of a bump in the road, but I think we're on the right path now with a therapist who has specifically worked with arthrogryposis.  This was an answer to prayer!  Right now, we have to do 2 different stretches with Amelia at least a couple times a day, more if possible.  She also has splints now for both hands.  We got one fitted last week and since she was not happy about it, we had to get the other one done yesterday.  These splints are for "resting" only, because while she sleeps (or rests), that is when her hands are more loose so we're able to get the most stretch out of them.  The resting is difficult because Amelia doesn't really like to sleep for us during the day, so hopefully the nights will be enough.

Tried to sneak them on while she was falling asleep...without success  :)

On Thursday, we have an appointment with Amelia's cardiologist.  At 2 weeks old, he saw Amelia for a follow up from a diagnosis in the hospital of PDA (Patent Ductus Arteriosus).  At that time, he saw some dilated vessels in the heart that concerned him.  So, this appointment is important to us.  We hope to get some clarification on her condition and hopefully those vessels are measuring back to a normal size.  However, at her recent 2 month check up with her pediatrician, he still heard a heart murmur, which lessens that possibility.  But, we know that if this is God's will, anything is possible, so we hold onto that hope and if the news isn't what we want to hear, we will still trust Him.  

Amelia will also be getting some blood drawn this week.  I just received a call last week that our insurance company authorized genetic testing for a connective tissue disorder that could be serious, so her doctors have decided to go ahead with testing.  Results will take 6 weeks to come back.  Since Amelia was seen by her genetics doctor at only 1 week old before any treatment, they were able to point out some characteristics that line up with her arthrogryposis to make this syndrome a very real possibility.  Another reason her appointment with the cardiologist is an important one.

The days are going by so fast...  Not knowing what lies ahead for Amelia can weigh heavy on our minds, but I have also been able to put that worry aside so that I don't miss being able to take in this time with my little Amelia, and Elsie and Sam for that matter.  I will never have these moments of smiles and coos again once she passes that stage.  This again is only achieved through prayer, I believe!  I'm usually the worrier to the point it consumes me at times. So, when I stop to think about that, it's pretty amazing!    


Good morning!!
Please continue to pray that:

Amelia will continue to respond well to treatments and tolerate her splints...
That the appointment with the cardiologist will be a positive one with some clarification...
Elsie and Sam will continue to adjust well...
God will give us perseverance each week...

So, with that, I would like to share with you another verse that a good friend of my mom's, who battled cancer, shared with me.  God's promises...

"I WILL LEAD the blind by ways they have not known, along unfamiliar paths I WILL GUIDE THEM; I WILL TURN the darkness into LIGHT before them and MAKE THE ROUGH PLACES SMOOTH. These are the things I WILL DO; I WILL NOT FORSAKE THEM."  Isaiah 42:16

Thank you again for continuing to support us in so many ways!!  We have been SO blessed!  In fact, this Sunday our Amelia will be baptized!  We are so excited to officially commit her to Christ and in realizing she is His first, we will do our best, with His help, to raise her to love Jesus with all her heart!  If you would like to join us, you are welcome to come!  If you need the details, leave me a comment and I'll be in touch!

"I have called you by name; you are Mine."  Isaiah 43:1