Open Heart Surgery

   Today Sadie will be getting her sweet, little heart fixed.  They will be closing up the hole (ASD) and also repairing her mitral valve.

   What a roller coaster ride this heart has been.   3 yrs ago in July ( a little ironic I think) I went in for a fetal ultrasound with a specialist.   I knew that my baby was small, but I really didn't think much of it.  I am a petite person and so is my mom, I figured she was going to be taking after my side of the family.  I left that US in tears.  Not only was I having a small baby, but my baby had a hole in her heart and a 2 vessel umbilical cord.  My husband and I were in shock. We had to completely typical developing pregnancy.  Why was this one going to be any different?  We left that appt devastated.  They told us at that point they were not sure how big the hole was, but it was very large and in a difficult spot.  We had no idea what that meant.
   As the next months went by and we had more US and a fetal echo of her heart done.  The Dr's changed their story many of times.  First they said they were not sure if she "would make it to her birthday". Then they changed it to "she will be born alive, but she will need surgery within hours of birth.  Again devastated!  After she was born they did an echo right away and said "we were completely wrong. The hole is very big, but it's in a stable place and her body is handling it. It won't need to get fixed any time soon".  Huge sigh of relief!  How, they were that wrong, I have no idea, but I wasn't questioning anything.
  At her next couple of cardiology appt's the Dr said that the hole was on the larger side and would never close on it's own like some holes do, but as long as her body was handling it (she wasn't turning blue, heart rate never dropped) then it wouldn't need to get fixed until she was like 7-9 YEARS old.  Even bigger sigh of relief.  How we went from possibly not surviving child birth, to not having it fixed for years from now was amazing to me.  We jumped off the roller coaster.
  However, this is Sadie we are talking about.  The ride was not over.  We went to her 18 mo cardiology appt and he said that it still looked good and stable, but he wants to have it fixed sooner rather then later.  Didn't really give me a good explanation on why the sudden change.  Ok. Lets jump back on the roller coaster.
   Next we saw the cardiothorasic surgeon.  He says yes, he agrees, in her case the sooner the better.  However, he wants all her genetic testing back and real answers about her health before he will do it.  He wanted to make sure it was going to benefit her life.  At that point the risks out weighed the benefits and he wasn't sure she would be strong enough to come off of the vent.  "No, no surgery right now".  Jumped off the ride.
   6 months later we get the genetic testing back.  Game changer!  Dr's see her completely differently now.  She has Cornelia de Lange syndrome and pontine tegmental cap dysplasia, "she can live a long time".  Yes, lets fix that heart now!  Back on that damn roller coaster.
   So here I am, the morning of her big surgery, not able to sleep.  Please keep Sadie in your thoughts and prayers.  She is a strong little girl.  She has come a long way.  The surgery itself is scary, but I'm more worried about the recovery.  I will keep you all updated on the ups and downs.  Please pray for her.

My happy baby girl last night before she went to bed.  Last picture without a scar on her chest.

 

The results!

Drum roll please......

Just kidding!  I just feel like we all have been waiting for this moment for 2 1/2 yrs.  Oh wait, we have been!  LOL

Where to begin?  Sadie has a rare syndrome called Cornelia de Lange Syndrome (don't google yet, I'll tell ya what it is a minute).  This was a complete shock.  At no moment in time has this syndrome ever been mentioned as a possibility.  If it was not for me pushing for this test (this was admitted by the Dr's) it would have never been discovered, and she would have been misdiagnosed for the rest of her life.  After I researched the syndrome and after talking to the geneticist, Sadie fits this syndrome to a tee.  HOWEVER, this syndrome does not cover brain abnormalities (at least not these specific abnormalities).  There is no genetic reason (at least not as of now) to explain her 3 brain abnormalities (4 if you count the cranial nerve issues).

I have spoken to a couple of her Dr's since we found out the results and they are all shocked.  No one saw it, but after I told them they all said they can't believe that they missed it, because it does fit her so well.  They all said that they were looking strictly at the brain and failed to look at all of her and they never thought to separate the issues.  I can't really blame them, it's hard to get passed the brain issues.  At the same time though, it really annoys me that no one looked at "all of her".  Hopefully, every single one of her Dr's have (or will) learned something from this.  Sadie is the classic case of "you can't judge a book by it's cover".

Sadie has a mutation of gene HDAC8 which causes Cornelia de Lange Syndrome (CdLS).  CdLS was discovered (if that's the word I'm looking for) back in the 1930's.  However, this specific gene mutation was just discovered in 2012.  If we would have done this test when she was born, she would still be undiagnosed (another way God works in mysterious ways and he made me wait 2 yrs to get her blood drawn).  With this gene being so newly discovered they are still doing more research and do not fully understand this gene, but they do know it causes CdLS.  In Sadie's specific case her gene mutation is a de novo.  "A what?"  De novo means a genetic mutation that neither parent possessed nor transmitted.

Also all the tests that they ran on mitochondrial disease came back negative.  Now, this is kind of a sticky area.  As I have explained in the past diagnosing mitochondrial disease is extremely difficult because it's just not black and white.  It is an extremely, large grey area.  The tests that are known to pick up mito, can come back negative and the Dr's will still think that a person has the disease because of the way that they clinically present.  In Sadie's case, the Dr's now believe that she does NOT have a mito disease because 1. the tests came back negative and 2. all of her symptoms have been accounted for under the dx of CdLS.  Yes, the brain is still up in the air, but they are still saying no to mito.   We are going to follow up with the new neurologist/mito Dr to discuss all the finding and get her final opinion on the whole mito situation.

What is CdLS?  Cornelia de Lange syndrome (CdLS) is a genetic condition present at birth and is characterized by numerous physical, intellectual and behavioral differences. Children with CdLS usually have low birth weight, are smaller in size and height and have a smaller head circumference (microcephaly). Most experience developmental delays that range from mild learning disabilities to profound mental retardation.

Common physical characteristics of CdLS include: similar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes and low-set ears); gastroesophageal reflux disease (GERD), which can make eating painful and contribute to slow growth and other intestinal differences; and upper limb differences ranging from small hands to missing fingers or forearms.

Cleft palate, diaphragmatic hernias, vision and hearing problems, excessive body hair (hirsutism), heart defects, seizures and dental issues are also common. Behavioral issues, such as self-injury or attention deficit hyperactivity disorder, might also be present. The syndrome takes its name from the Dutch pediatrician who was one of the first to formally describe it, in 1933. It occurs in an estimated 1 in 10,000 live births.

I got all this information from the center of CdLS at CHOP (children's hospital)..  You can read more here if you want to.

There are many, many symptoms that go along with this syndrome.  With the fact that Sadie does not display all these symptoms AND the fact that she has the brain abnormalities, it is kind of easy to see how this syndrome was missed by all of her Dr's.  At the same time... the symptoms that she does display of this syndrome fit her to a tee, so how was it missed by so many Dr's?  It's rare, but it's not as rare as her PCH or the PTCD.  *sigh*  I don't know, but being undiagnosed is in the past and I'm just thankful that we have one more missing piece to Sadie's mysterious puzzle.  Now, if we can just figure out the brain piece, it will be complete (I think).  Don't worry, I have new plans to help figure out her brain piece.  You didn't think I would just leave that alone now did you?  Nope, detective mom is on the loose, again!  LOL

As always thank you everyone for all the support and prayers that you guys have given us the last couple of years.  You have no idea how much all of you mean to us.

Finally!!

  We have results from Sadie's whole exome sequencing test.  It took 6 months almost to the day!  The results are very interesting and a little shocking.  I'm not going to share them with you guys yet because I don't even understand everything yet.  The genetics counselor only gave me a brief review of the results over the phone and then next week we are going to go into the office and get the full scoop.  But I will fill everyone in after the appointment.  :)

Cranial nerve 5

It may be the death of me!
 
  Nerve 5 is responsible for sensation and feeling of the eye.  Sadie, as we all know, lacks this sense. She woke up with her eye all red and blood shot and 3/4 closed.  I didn't see an injury like I did last time, but every time I pried her eye open she would roll it back in her head.  So off to the eye Dr we went.
  He did his eye exam and "died" her eye yellow/green and looked at it under the black light.  Luckily, the exam turned out with "good" results.  There are no ulcers!  Yay.  However, they are very scratched on the surface.  This is caused from 3 things.  1. Her eye lashes are always on her eyeballs because they turn in and she just has squinty eyes. 2. She doesn't blink appropriately, so she does not "clean" them as often and 3. she doesn't make as many tears as the rest of us to keep her eyes moist.  This environment makes for "angry eyes".
  Luckily, this is an easy fix (we hope).  We are now putting an antibiotic eye ointment on morning and night and putting on a thick eye ointment 3 times a day.  To make it easy on us to remember, we do her eyes every time she eats. Hopefully this plan works.  We go back in a month or so to check.  If it doesn't work, then they are talking surgery to turn her eye lashes out.  Boo, we do not want this. Let's hope and pray this works.  Bless her heart, she never complains. 

 

I love a tubie!!

Feeding Tube Awareness Week

 

Sadie has had a feeding tube since day one of life.  The coordination of sucking, swallowing, and breathing just was not there when she was born (due to her pons being small).

 

We worked hard for 6 months learning to suck.

The most that she ever took from a bottle was an ounce (and that was only one time).

The chance of her getting aspiration pneumonia was extremely high.  I was tired of taking the risk every time I attempted to feed her.  Plus, she was getting too stressed and frustrated and so was I.

 

 

 We decided it was time to give Sadie a permanent feeding tube.  It was a laproscopic surgery that left her with 4 teeny, tiny little scars (that you can not even see now) and an "extra belly button" (as my other girls call it). We stayed in the hospital for a few days to make sure she could tolerate her food.  She did fantastic!  It was one of the best things that we have ever done for her.  We took away the stress of feeding and gaining weight.  We could now see her whole, beautiful face without a tube taped across her upper lip.

 

 

We now have a nutritionally, healthy little girl who is growing and gaining weight.  She has a g-tube button that is so discrete, no one knows that it is there and we can decorate it with cute little g tube covers to make her fashionable.  This tube has kept her out of the hospital many times as we can still give her fluids and keep her hydrated when she isn't feeling well.  This is Sadie's life line.  Without it, she would not be alive. 

 

 

Chloe and Aubrie have always embraced the feeding tube. Chloe (at 4 yrs old) made a feeding tube from construction paper and tape and attached it to a doll.  She wanted Sadie to have a doll that looked like her.  Aubrie wanted a teddy bear that had a feeding tube "just like my sister".

 

 

 

This is a video that the Feeding Tube Awareness group put together.  Watch it, share it, spread the word.

 

Cochlear implant idea

   Over the summer we went to see a vision specialist (not a Dr, a teacher).  She was very knowledgeable and had many great idea.  She also informed me that she believed that Sadie has a cortical visual impairment.  I have always known that Sadie has eye issues, but her Dr has always told me that she has great vision so I never considered it to be an issue.  Well this woman informed me that there was more to vision then just seeing.  Needless to say, I was very naïve about the whole situation.  Not only is my child deaf, but she also has some serious vision issues.  I was so upset after this appt. I came home and started to rethink a few things.  I made sure that she had a VI teacher and that her eye Dr qualified her as legally impaired so that I could get the most help for her.  I also started to rethink having Sadie receive a cochlear implant.
   When we first found out about Sadie being deaf, it really didn't phase us much.  It was just one more thing to add to her very fast and long growing list of differences.  Honestly (and I know this sounds bad) her hearing was not high on my list of concerns at that moment in time.  It was not devastating news to us.  Being deaf is not a bad thing, it's just a different lifestyle then what we are used to.  I had always wanted to learn sign language and I knew it would be good for the girls to learn, and like I just said, it's not a life shattering bad thing for Sadie.  We had "bigger fish to fry" at the time.  Plus, there was so much unknown about her (and still is) that we honestly didn't have enough information about her to make a very informed decision about the future of her hearing.  If we went with a cochlear implant we couldn't get another MRI of her head and since her brain was her main issue at the time and the key to many answers, I didn't want to take that test away from our future.  That idea went on to the back burner.
   Fast forward about 20 months to this summer.  It's not rocket science that a person needs to have good vision to be able to sign.  When we went to see this woman and she told me that yes, my daughter can see, but there is a good possibility that her brain is not comprehending what she is seeing, I freaked out.  If she can't "see" me how is she going to learn signing?  And if she can't sign, how is she going to communicate with me?  Also, around this time we had been using the hearing aids for a little while and had absolutely no success with them.  So the cochlear implant came back into discussion with my husband and myself.  I guess I should rephrase something, to say that it was completely on the back burner the whole time would be a lie.  We toyed with the idea a couple times, but never gave it a really good conversation.  This time, we really researched the pros and cons, the different styles, types and companies, and Dr's, and talked with other parents of children that have pontine tegmental cap dysplasia (which is the disorder that causes Sadie's deafness), parents of kids that are typical developing but deaf, and parents of kids that are considered deaf + (which means they have other special needs).  I spoke with a couple of different audiologists. I researched A LOT.  After a long consideration we decided to pursue the cochlear implant.
   I made an appt with the CI (cochlear implant) Dr.  The soonest we could get in was the end of February.  I took the appt, but I was sort of speeding up the process on my own.  I sent Sadie's recent MRI (the one from November) to the office and I asked for the Dr to look at it before the appt so that he could look for her auditory nerves and see if they were viable to be able to take a CI.  I asked for him to look at it before the appt stating that I don't want to waste his time or mine with an appt if the nerve isn't any good.  He did just that.  He called and said that he needed another MRI of just her inner ears as he couldn't see that part very well with the MRI that was just done.  He suggested another MRI before our appt, one that detailed her nerves a little more.  I agreed to have it performed.  It was set up and that is the MRI that was performed last Monday.
   Friday I got a phone call from the CI Dr's office.  It was not the news I was hoping for.  They stated that her "inner ears are very tiny and that her auditory nerves are either extremely small or non existent, with that being said she is not a good candidate for a CI".  Well, that explains why she gets absolutely no response from her hearing aids.  I was bummed.  REALLY BUMMED!!  But not for the reason that you are probably thinking.
   To say I was bummed, is putting it extremely mild.  Pretty sure I had a really good crying fit/temper tantrum/extremely angry for a majority of the day.  It wasn't because she couldn't get a cochlear implant, it was because my child just can't catch a break!  In this case, I just wanted to make one thing easier in her life.  I didn't expect her to be able to have speech and be able to have a conversation.  I wanted a CI so that she could be more engaged in her environment, enjoy listening to her sisters contagious laughs, know when someone walks in the room when they are not in her line of vision, possibly enjoy listening to music so that I have something to help her calm down with when she is upset since she won't take a paci and doesn't want to be held.  I just wanted to give her this one thing.  But as always the Lord has other plans for Sadie.  But on this particular day I was not happy with his plan.  I just get so sick of her always having to fight for everything. Everything, EVERYTHING she has to fight and struggle for.  Luckily, she doesn't know how hard she is fighting, she just thinks this is just what life is all about.  But I do!!  It is the worst, THE WORST feeling in the world to watch your child struggle. I would give ANYTHING to take her struggles away.  And that's what I was trying to do with a CI, just make one thing a little bit easier.
   Over the last week I have had time to think and calm down since my little temper tantrum.  There is a reason for all this.  I may never understand, I may never know the reason why the Lord has given her so many struggles but this is what he wants for her.  It's not for me to understand, it's just for me to go with the flow and follow his lead with her life.  I also have to remind myself that Sadie is happy.  She is happy just laying around and watching her sisters and everything else that is going on around her.  She is happy sitting on our laps being tickled and laughing.  She is happy looking at all her different light up toys.  She is happy when the fan is blowing on her.  She is happy when she is in her stroller.  She is happy when... etc.  She is a very HAPPY baby.  She doesn't cry (she complains, but doesn't actually cry).  She doesn't know her own struggles.  I know them, and that is one of the hardest parts.  I'm working on taking my feelings out of it, but I'm pretty sure that is impossible.