Saturday, April 30, 2011

Liver surgery

Claire's liver surgery is scheduled for Thursday.  This is good because her symptoms seem to be getting worse and worse each day.  She is sooooo uncomfortable.  She basically just grunts all day long.  Claire has never had an issue with spitting up, and now she spits up almost all day long.  She has reduced the number of ounces she is eating per day, but still gaining weight which is weird.  I am wondering if this is fluid gain.  I have been measuring her girth and it has increased about 3 cm in the past week or so.  She has gained 11.5 ounces in a week.  To me, this is excessive.  I weigh and measure her the same time each night before her bath so there shouldn't be much variance caused from eating since she eats usually at the same time each afternoon. 

It's so frustrating because she is so uncomfortable.  No matter what way you hold her, she doesn't feel good.  I compare it to how I felt when I was pregnant and felt extremely full all the time and couldn't get comfy.  At least I knew what was going on - Claire has no idea.  It's frustrating as a parent that we cannot console her and make her feel better.  It's going to be a long few days for all of us, but especially Claire as we wait for the surgery day. 

The plan for surgery is that the liver surgeon we have been dealing with the whole time will be doing the surgery.  But her colleague will also be there who is also a liver surgeon at Duke.  The priority is the right lobectomy (removing the right half of her liver) where all the big cysts are.  If Claire is still stable once this is removed, the surgeon will then try to "wedge" out the smaller cyst(s) on the left lobe.  If Claire is still stable after this, she will then repair the hernia.  Claire will go to the PCICU after surgery - this is the cardiac ICU she went to after her heart surgery.  She is going there instead of the regular PICU since she is still considered a heart patient.  Claire will stay in the PCICU for several days until she is ready to move to the step down unit or the floor.  Recovery time in the hospital averages 4-7 days. 

I am hoping we can hang out in the PCICU as long as possible since moving to the floor is not our favorite place to be.  But if she moves to the floor, that means she's doing well.  So beggers can't be choosy! 

Claire will need as many prayers as possible for the next few weeks, and especially on Thursday.  Please also pray for her doctors and caregivers as this is such a rare pediatric liver disease, we don't want any curve balls.  We are praying that the surgery goes better than planned.  It will be a long, tedious surgery lasting about 4-5 hours.  The liver bleeds a lot, so they have to be careful about blood loss.  This is as major of a surgery for Claire as her heart repair.  So please pray hard. 

Of course, Trent is the assured one and I am once again the freaking out one.  My nerves are scattered and fried.  One minute I am ok, the next minute I am in tears.  I haven't cried as much as I have tonight since Claire's heart surgery.  I just hate how bad she feels and that I can't fix it.  And then I worry about her surgery.  I am not sure how other parents feel that have been through such experiences as we have been through with Claire, but sometimes you feel like you don't have any emotions anymore.  You are in survival mode.  I used to be a pretty emotional person.  Now I feel like I have my battle armor on at all times and can't let myself get too happy or too sad.  It's like you just have to exist emotionally to get through to the next step.  But at the same time, Trent made me laugh this week until I cried!  It felt so good to do that.  I honestly haven't laughed like that since before I was pregnant or shortly after.  Laughter really is the best medicine!

Please also keep Claire's friend Claire Elizabeth in your prayers.  She is still experiencing lots of seizures and her parents are extremely worried.  I can't imagine how scary that has to be to watch and wait and wonder.  On a funny side note - the first time I met Claire Elizabeth's parents, we were discussing why we both chose the name Claire for our children.  We all liked the name because it was classic and you don't hear it often.  Claire Elizabeth's mom mentioned she didn't want Claire to be called Claire "G." in school.  You know - like when there's two kids with the same name, you distinguish them by the first initial of their last name.  So instead of calling them Claire S. and Claire G., I just like to use their middle names instead!  :)

We will be updating Facebook throughout the day during surgery.  Not sure if we will be updating the blog until later on that day or evening depending on if I remember the laptop or not or if one of my sisters can update it for us. 

Love,

The Scott Family

Friday, April 29, 2011

A "Royal" Morning

Today is a special day in history as the Royal Wedding between Prince William and Kate Middleton occurred.  For Claire, this will be like the Prince Charles and Diana wedding for my childhood.  Although I don't remember it, it was a special day in history. 

So how did we spend our night and morning in preparation for the royal day you ask?  Well, Claire wanted to be sure she didn't miss the wedding, so she woke us up at 11:30 pm, 3:30 am, and 5:30 am.  Once we were up at 5:30 am, Claire ate her breakfast and we hurried downstairs to turn the tv on.  Claire and I quietly watched people arriving as I got ready for work, trying not to wake Trent up.  Once we moved into the den to watch it, I believe Claire realized she had NOT been invited to the wedding!  She became very upset and inconsolable!  (Well, not like she has been in the past at the ABC Store, but you know what I mean....)

To make her feel like she was at the wedding, I put on her special party dress that Beth and Isabella gave her (a dress Isabella got at her baby shower that I fell in love with then and got first dibs on for whenever we had a baby!).  And to make the day even more special, it's Beth's birthday (hence wearing the party dress from Beth).  Happy Birthday Beth!

The dress was not enough.  Claire didn't understand why everyone else had on a big, extravagant hat and she didn't. 

So I pulled out her christening bonnet (that she hasn't worn yet b/c she hasn't been baptised yet) and put that on her to make her feel more like she was there.  This did not appease her at all.  Trent woke up to see what all the commotion was about.  When I told him she was upset she wasn't at the wedding, he laughed and agreed that that was why she was so fussy (we both really know it's that she is so uncomfortable from her cyst). 

Claire then proceeded to spit up on me and her party dress about 4 times (also due to the cyst).  She insisted that it was making her pure sick that she had not been invited to the royal wedding as she is SURE that William and Kate follow her blog!  ;)

Trent started asking Claire if this was the kind of wedding she wanted.  I remembered back to before we were going to find out if Claire was a girl or boy.  Trent told me that he needed to find out if he was going to have to pay for a wedding or not!  So the ultrasound tech told him to start saving for the wedding now!  So as he is asking Claire if this is the kind of wedding she wants, my wheels are turning.  Is he serious?  Then he said he heard somewhere that Kate's dress was expensive - like $500,000.  I told Claire she could not have a $500,000 dress and for her to go ahead and accept that now. 

The exact words out of Trent's mouth were - "I can't see spending $500,000 on a wedding dress.  Maybe $5,000."  I was thinking he would have said "maybe $500" or something but not $5,000!!!!!  At this very moment, I realized that Trent is wrapped so tightly around Claire's finger and that he would literally sell his right arm to get her a $5,000 wedding dress if that is what she wanted.  Am I in for it or what?!?!?! 

Finally after being spit up on for the 4th time and trying not to have to change clothes before I had to leave for work, I put Claire in her Chevrolet "royal chariot" and the procession started to Granny and Big Daddy's with a stop off at Grandma Neat Neat's (our morning ritual).  She was asleep by the time we got to Granny's but quickly awoke to the roaring crowd awaiting to see her (the neighborhood dogs).  I escorted Claire inside and handed her off to Granny.  As I left for work, she waved goodbye as she does each morning with the help of Granny.  I have already received a phone call that the princess is sound asleep.  It's been a busy morning for her and I am sure she is having sweet dreams of her own royal wedding one day. 






Love,

The Scott Family

Tuesday, April 26, 2011

Geneticst appointment

Yesterday, Claire visited with the geneticist.  We were not scheduled to go until August, but they had an opening and it worked out that we could go!  It made for a very long day, but I am glad we went. 

The doctor that she saw is also a pediatric cardiologist, so this doctor had seen Claire in the NICU before.  So she was somewhat familiar with Claire and her situation.  Which was very nice!  Dr. Rachel recommended we see her and got us set up with an appointment! 

The geneticist came in and said she had reviewed all of the information that I sent her from the pathologist in Seattle about the ABM, PMD, HMH, and BWS (see previous very long post!).  She suggested that since Claire has 2 birth defects that we not just focus on that situation, but get an overall look at Claire genetically.  Which I think is a great idea and wonder why this hasn't been suggested before....  Anyways, the doctor asked us lots of family history questions but said our family was pretty healthy, so no red flags there.  She measured everything on Claire to get numbers to compare to see if anything stood out.  She measured her fingers, feet, ears, eyes, bridge of her nose, etc.  The only things that somewhat stood out to her were her eyes, nose, ear, and feet. 

Not sure if you have noticed, but you can see creases under Claire's eyes.  Also in the inside corner of her eyes, you cannot see those pink circle things (I have no idea what they are called).  It's like she has a fold of skin that goes into the corner of her eyes that covers it (kind of like an Asian person's eyes, although there are no Asian people in either family).  This doesn't really MEAN anything, but it could.  She also mentioned that the bridge of Claire's nose is wide.  Well, she gets her nose from her Daddy and Grandma Neat Neat and if you look at the bridge of their noses, they are wide.  So no big deal there.  In Claire's left ear, she's always had an "extra" fold or line.  I am not sure how to describe what I am talking about.  I will have to try to take a picture of it and post it later.  The doctor didn't seem too concerned about that either. 

After plotting all of their numbers, the only thing she noticed was that Claire has small feet.  Well if you ask Claire's Grandma Neat Neat, her great aunts on Grandma's side, Great Mimi, and Aunt Sarah, then that's nothing new for this family!  They all wear like size 4 or 5 adult shoes!  Tiny feet run in Claire's family.

So really the geneticist didn't see anything really that stood out as a specific syndrome or anything which is good.  She said Claire was developmentally appropriate and looked "beautiful"!   So they drew blood from Claire and I and will draw blood from Trent in a few weeks.  Claire's blood will be sent off for chromosomal testing.  It should give them a broad overview as to if there are any differentials in her chromosomes and where to look further.  They will extract DNA from my blood and Trent's blood to run molecular testing for the ABM once they get in touch with the Seattle doctor to see what he wants to do. 

It was also a great thing that we were seen early and before Claire's next surgery.  While the surgeon is in doing the liver surgery, she can take out any tissues that need to be extracted for study while she's in there and Claire will not have to have another procedure.  Yay!  God works in mysterious ways. 

So after mentioning the liver surgery, we still haven't heard back from the liver surgeon on the plan or surgery date.  We were hoping to hear from them last week.  So I am keeping my fingers crossed for a call today!  I am sure with the Easter holiday, it could have caused some delay.  So fingers crossed......

We did have to make the famous stop at the ABC Store in Dover last night.  It was late when we were headed home and past Claire's bed time, so she was just exhausted.  After about 10 minutes of getting some fresh air and looking at the sunset in the wheat field behind the ABC Store, she was good to go.  Along with me being silly and distracting her the rest of the way home!  Aunt Amanda and Grandma Neat Neat went along for the ride yesterday and we are so thankful.  It takes at least 2-3 adults to go to these appointments.  One to talk to the doctors and answer all of their questions, one to hold and occupy Claire, and one to take notes.  It's definitely a team effort! 

So we didn't get any answers yesterday, but we did get started looking into answers.  We many never get all of the answers but it's so worth the time and effort to make sure we find out everything we can to help Claire.  If some of these things are genetic, the information may also help my brother and sisters when they decide to start their families.  Can you imagine them having to answer the doctor's long list of family history questions?!?!  Amanda said she will just need a print out to take with her!  hahahaha

"Mooooom!  It is so uncool for you to have the same Scooby Doo bandaid as me!"


Love,

The Scott Family

Sunday, April 24, 2011

Claire's first Easter (weekend)

Claire has had a busy Easter weekend!  She visited Daddy at his shop, got to sit on a few tractors, had a visit from the Easter Bunny, went to lunch at Granny and Big Daddy's, dyed Easter eggs with Grandma Neat Neat, and attended her first Easter egg hunt at Great Mimi and Great Grandpa's with cousins Connor and Anna.  Here are a few pictures from the weekend and a bonus video!





















video



Happy Easter from the Scott Family!  We are headed to Duke this week to see the geneticist and still waiting on a call from the liver surgeon with the plan.

PS - you don't see Trent in a lot of pictures.  One - he hates pictures of himself.  Two - he takes most of the pictures.  But we do have a few pictures of Trent and Claire.   :) 

Love,

The Scott Family

Wednesday, April 20, 2011

Geneticist appointment and other liver things

Yesterday, the geneticist's office called and said they had a cancellation for next week.  So instead of waiting until August to go, we plan to take them up on the offer and try to get there next week.  Maybe this will start the ball rolling a little sooner on figuring out all of that medical mumbo jumbo I posted about a few weeks ago.  We shall see!

Also, I have been doing a lot of searching (as I did with Claire's heart defect) about pediatric liver information and support groups.  They are definitely few and far between.  Even more so than the pediatric heart blogs and support groups.  But I have found a few really good websites in the past few weeks that work to connect families together that are dealing with similar pediatric liver disease situations.  I highly recommend the following website for anyone dealing with a pediatric liver disease:

Pediatric Liver Aid Foundation (or PLaiD) - http://pediatricliveraid.org/

This website has been the best so far as far as connecting with people.  The two moms who started it responded back to my contact request almost immediately.  Plus can you hardly stand yourself looking at those adorable faces on the homepage?!?!  :)  I sent in Claire's story and they are working to get it posted to their site and to their Facebook page.  This is an AWESOME service to families like ours.  When you feel like you are the only ones dealing with something, you realize you are not alone.  And that is very comforting. 

One of the founders of PLaiD has a daughter, Abby, with a rare liver disease.  Abby just had a liver transplant in December.  Abby's mom contacted their pediatric hepatologist and asked him if he knew of anyone dealing with HMH, Claire's liver disease.  She said he told her they didn't have any patients with Claire's disease and he wasn't sure if he would find anyone who did to since HMH was so rare.  She said he "kind of chuckled" because if I had come to him asking him to connect us with someone with such a rare disease, he would have connected me with Abby's mom!  Abby is only the 32nd person identified with her disease.  I think there have only been about 120 cases reported of Claire's disease ever.  So that gives you an idea of just how rare these things are.  Abby's pediatric hepatologist also said "The good think for her child (for Claire) is that this condition (HMH) is thought to be curable with the appropriate surgery (not transplant) and should hold little to no increased  lifetime risks.  We don't have a lot of data to to go on, but I would pick this liver disease over quite a few others."  That is somewhat reassuring, I guess!  Claire has not seen a pediatric hepatologist yet.  I haven't actually looked for one in our area.  We have just been working with the liver surgeon at Duke so closely, I sometimes feel like she is our hepatologist. 

Contacting this site led me to this next site, Madisons Foundation.  It's named after the founders' child Madison, but Madisons also stands for Moms And Dads In Search Of Needed Support.  This site is for families searching for information or wishing to be put in contact with someone dealing with a rare pediatric disease.  It's focus is on really rare diseases, like hepatic mesenchymal hamartomas.  In fact, HMH is not even listed on their site but tetralogy of fallot is.   So I have put in a request for them to add HMH to their site.  It's so rare, it's not even on the "rare diseases" website!  So if your child has a rare disease, check out this site:

Madisons Foundation - http://www.madisonsfoundation.org/


A few other pediatric liver disease related websites that I have found are:

C.L.A.S.S. - Children's Liver Association for Support Services - http://www.classkids.org/

Liver Families - http://www.liverfamilies.org/homepage.htm

American Liver Foundation - http://www.liverfoundation.org/


I hope this helps anyone in search of good pediatric liver disease (and rare disease) websites, information, or connections.  It's nice to have them all listed in one place. 

As of last night, Claire weighed 13 lbs 3.5 oz.  She has been grunting a lot which usually tells us she is uncomfortable.  Her belly looked bigger/fuller to me this morning and her belly button was "flatter" than normal.  I am still waiting on a phone call from the liver surgeon this week to hopefully give us a date and a plan for Claire's liver surgery.  Please pray we hear back from them soon and get the ball rolling. 

Love,

The Scott Family

Tuesday, April 19, 2011

Prayer request for Claire Elizabeth

Please say an extra prayer for Claire's friend Claire Elizabeth (I use her middle name to distinguish between Claires).  She is having a rough time with seizures and her parents and family are very worried about her.  You can read more about Claire Elizabeth here:   http://prayersforclaire.blogspot.com/

Also, Eliza did great with her surgery today!  We knew she would!  Please pray for a quick recovery for her. 

Thanks!  Claire's friends pray for her when she needs it and it always means so much.  I always like to return the favor to them. 

Love,

The Scott Family

Neighborhood friends and future babysitters

Claire stays with my mom during the day while Trent and I go to work.  Some days she gets to stay with Trent's mom too.  We are very lucky to have family so close by that Claire does not have to go to daycare and risk being exposed to so many germs.  Now that the weather is nice, my mom takes Claire for walks around their neighborhood.  She gets to stop and meet neighbors - which Claire is usually sleeping so they just take a peek at her!

A long time neighbor down the street and long time friend of both families has 2 beautiful granddaughters.  They keep up with Claire's blog, pray for Claire, and do nice things for Claire.  These sweet girls are named Maggie and Marcie.  Maggie, as you remember, is the one who did the Jump Rope for Heart in honor of Claire.  Her sister, Marcie, has a special birthday coming up on Easter Sunday.  Claire wants to wish Marcie a happy early birthday!!!!

These sweet girls decided that while they were out shopping with their grandmother that they needed to buy Claire a dress.  So they did!  It is the cutest little zebra print dress you can imagine.  Claire already has a more modern and stylish wardrobe than I will ever have!  Then they also cut fresh roses from their grandmother's yard and brought both down to Claire yesterday.  Claire was sleeping when they stopped by, so they didn't get to meet her.  And my mom later strolled Claire down the street to meet the girls while she was awake, but they had already gone home.  Hopefully they will get to meet each other this week! 

Claire absolutely loved her roses and her dress!  The dress will be perfect for her this summer.  A picture of that will come later when she wears the dress.  But here is a picture of Claire with her beautiful roses:


"Thank you Marcie and Maggie (and Mrs. Adkins)!!!!"



Claire also told me last night that she thought Marcie and Maggie could be her future babysitters one day!  Wouldn't that be so much fun?!?!  I know Claire is looking forward to it!!!

Love,

The Scott Family

Monday, April 18, 2011

Stormy weekend, but not in Claire's world!

Our state, and especially the area we live in, had a rough weekend.  Tornadoes ripped through many areas leaving them devastated.  We were so blessed that we did not experience any of the tornadoes although they hit only miles away from our house.  Two storms basically went on either side of Rhems.  We already had our safety plan in mind and would have ran to the closet in our bedroom and covered Claire with her car seat to act as a protective shell.  But thank God we didn't have to see if it worked!

Claire was in "Claire's World" this weekend.  We went on strolls down the dirt driveway at our house, took naps outside, took Fuzz (our dog) for a walk, rocked in the swing, and just played and ate.  It was a nice weekend around our house.  Here are some pictures to prove it!  :)

"Happy 1st Anniversary Aunt Julie and Uncle James!!!" 

Wore my cat outfit especially for Aunt Julie and Uncle James' anniversary. 

Waving my magic wand!!!!  Got this from the goodie bag from Isabella's first birthday party (although we were unable to attend).

This lamb was the same size as Claire when she was born.  She now weighs 13 lbs 1.5 oz (10 lbs more than when she was first born!). 

In the stroller taking Fuzz for a walk.

Napping outside!  She LOVES it!

Rose bushes Trent planted for Claire when we found out she was a girl and her middle name was Rose.  Melts my heart!

Beautiful blooms just like our Claire Rose.

Love,

The Scott Family

Saturday, April 16, 2011

Cardiologist response

We finally got the cardiologist situation straight and are back with the original cardiologist we saw before Claire was born.  He replied to my questions yesterday about the possibility of stenosis happening in Claire's pulmonary arteries as a result of the tetralogy repair.  Here's what he said:

"Reassuringly, the left pulmonary artery appears to have grown normally according to this last echo report.  The right or left pulmonary artery may sometimes not grow normally after repair of tetralogy of fallot due to scar tissue that builds up in that region, but this does not appear to be happening."


THANK GOD!!!!   He also said he has not personally been able to view the images yet, but will do so before our next appointment in May so we can discuss it in more detail then.  But what a relief that so far, it does NOT seem to be what we thought a few weeks ago.  It may change over time, but at least for right now we are reassured and relieved. 

We have a few prayer requests for some of Claire's friends.  Her friend Eliza will be having surgery Tuesday to get a G-tube (gastric) put in her belly to help her eat.  Also, Claire Elizabeth has been having some seizures lately and her parents are concerned.   Her friend Remi is also sick.  We are not sure what she has, but little preemie babies do not need to get sick.  You can check out Eliza and Claire's blogs here:

Eliza's blog:  http://www.heatherandglenn.blogspot.com/

Claire Elizabeth's blog:  http://www.prayersforclaire.blogspot.com/

Have a great weekend and stay safe in these storms that are coming our way!

Love,

The Scott Family

Thursday, April 14, 2011

Duke update

Sorry for not posting sooner.  I forgot the computer when we headed to Duke on Tuesday!  Claire was scheduled to get an MRI of her abdomen, but the doctors changed their minds and she got a CT instead.  She also got an echo of her heart and an ultrasound of her liver. 

We spent Tuesday night at Duke and Claire was awoken with trying to get an IV in.  The first 2 attempts were very unsuccessful and torture!  But 2 nurses from peds surgery came in and got it on their first try thank God.  Claire was so upset.  They had to put in a large IV for the contrast for the CT so it was difficult.  She was scheduled to go down at noon, but as the doctor was in the room explaining the sedation, he got a call that the 8 am CT had canceled!  So Claire took that spot. 

We went straight down to CT and Claire was sedated.  The sedation they gave her only lasted probably 5 minutes at the most.  So they quickly did the CT scans and got great images.  Then Claire got the echo of her heart done.  They were hoping she would still be somewhat sedated but she wasn't.  But the technician was great and got all the pictures she needed.  We also ran into one of the NICU fellows that was helping out with Claire's echo.  Claire also made some new friends with the nurses in CT!  They were soooo nice and wanted to keep her!!

On the way back to the room, the ultrasound tech saw us in the hall and asked who we were.  I told her and she said "oh, you're scheduled for an US!"  I thought, no, we are not.  But she confirmed that the radiologist had just scheduled it.  So we stopped by US which worked out great.  The radiologist couldn't see the right hepatic (liver) vein on the CT so she wanted to get a doppler of it.  Long story short, Claire's left and middle hepatic veins are fine.  The right one is very, very small and basically short.  The radiologist wasn't concerned.  She expected this because there really isn't much liver tissue in the right lobe anyway. 

Side note - the radiologist we saw yesterday was one of the original ones who did the first draining of Claire's cyst when she was a few weeks old.  She was extremely nice and was so excited to see how well Claire was doing!!!

Anyways, I did notice a new area on Claire's liver on the US.  The big cyst that is there now looks like a cluster of grapes, whereas the original big cyst was just a big black looking circle.  The grape-like cyst is still there, but there was a new big black fluid filled area since the last US on 3/30.  I couldn't quite understand if the radiologist thought that the original cyst that was cut open had closed back up and re accumulated.  Or if this was fluid being trapped between Claire's abdomen wall and the liver.  I know she said it was hepatic fluid and that it wasn't "in" the liver, but sitting on top of the liver.  But it looked like it was closed in a pouch.  I asked the surgeon about it, but honestly can't remember what she said she thought it was (one of those block out moments).  So it makes me worried, but at the same time, I think this must be what caused Claire's belly to look so much bigger so quickly.  I know I didn't see it 2 weeks ago. 

So we talked with the surgeon and she said the cyst is bigger and sitting on the Inferior Vena Cava (the large vein that carries blood back to the heart - and the one that was compressed before the first liver surgery).  But it is not compressing the IVF which is great.  She is not sure if the cyst is stuck to the IVF or just touching it.  This is important for surgery.  If the cyst is just sitting on it, then it will be great.  If it's stuck to it, it will be tricky trying to get the cyst tissue detached from the IVF without tearing the vein walls since they are so thin.  Let's just pray it's not stuck. 

The plan is to show the scans to her other surgeons and get their opinions on the plan for surgery.  She could do it all at once or in stages.  I am hoping they can do it all at once.  She also wants to plan to have the other liver surgeon at Duke there for Claire's surgery.  So she will check her schedule and get back to us next week on a surgery date sometime around the first of May.  The surgery should last around 4 hours and recovery time in the hospital is 4-7 days.  I made sure to express my gratitude for her taking the time to answer all of my phone calls and concerns.  She has made sure that she is the one who checks on Claire which is great.  She has learned that I am the frantic, over protective mom that is going to ask 100 questions and wants to know the details.  And I have learned that most surgeons are not like her and don't take the time that she does.  So we are so thankful for her.  I think God had it in the plans for her to be at Duke for Claire since she has only been there a year or so.  Same with Claire's heart surgeon who came in September. 

As for Claire's heart, we haven't heard anything back on the echo.  I am still in the process of getting the cardiologist changed.  And, no, I never heard back from the cardiologist that I left messages for.  So I am still unsure what is going on. 

We made it home late last night.  It was so nice to be home!!!

On another note, we would like to wish our Aunt Doe a very special birthday today! 

Thanks for all of the prayers!!!!!!!! 

Love,
The Scott Family

Tuesday, April 12, 2011

Happy Birthday Granny Mary!

Today is Granny Mary's birthday!  We celebrated this past Saturday with some good food and family.  I realized Saturday morning that the party was going to be the first time in over 6 months that our entire immediate family was going to all be together - with Claire!  This is unusual for our family.  We are together a lot on a normal basis.  The last time we were all together was for our Dad and brother's birthdays in September. 

So I was really looking forward to the party!  It would be Claire's first party!  She's the only baby/child in our family so far so we didn't have to worry about her getting germs from other children.  We ate some good steaks and chicken and enjoyed each others company.  Here are a few of the pictures we snapped!

Claire with Great Granny

Aunt Julie, Claire, and Great Granddaddy

Uncle Phillip and Claire - she loved his version of a NASCAR car

In this picture, Claire is the approximate weight (12 1/2 lbs) and 1 inch shorter (22") than Uncle Phillip was when he was born. 

Uncle James and Aunt Julie

Everybody!  Phillip was holding Claire so Brandy's dog decided she would run and jump in Trent's lap!  Too funny!

Brandy's shi-poo fell in love with mom's fake metal poodle (behind the dog)!

Big Daddy, Great Granddaddy, and Claire - we didn't realize it till after the party that we had 4 generations there.  Here are 3 of them and I was taking the picture. 

Great Granddaddy and Claire

opening presents!

Here are some pictures that were not taken at the party but are some Granny Mary took of Claire that she loves!  So it's appropriate to post them today for her birthday!






We will update later (if we can) about the MRI status.

Love,

The Scott Family

Monday, April 11, 2011

MRI

The surgeon called and cannot get Claire in as an out-patient any earlier that April 22nd.  So she has decided to admit Claire to Duke tomorrow and then schedule an emergency in-patient MRI.  Hopefully we will find out some information.  Please keep Claire in your prayers as they will have to use general anesthesia to get good pictures!  We will keep you posted!

Love,
The Scott Family

Birth Announcement

We just now sent out Claire's birth announcements!  And we only sent out a handful since they were delayed.  But here it is for everyone to enjoy!





Also, my grandparents sent us a very sweet card and I thought it was special enough to put on the blog:

"If" for Little Girls

If she enchants you from the moment that her life begins,
If she amuses you for hours with her giggles and her grins...
If she's the center of attention anywhere that you may go,
If she still looks like an angel even when she's saying "no"...
If she's the cutest, sweetest baby that you're sure you've ever seen,
If she knows just what she likes and rules your household like a queen...
If she's the laughter and the joy that always give you heart a lift,
Then you surely know a baby girl is life's most precious gift.

Love,

The Scott Family


Sunday, April 10, 2011

a few updates

As of now, Claire has an MRI scheduled for April 22nd.  I was hoping for something sooner.  So I am going to work on that.  I think Claire needs to be seen sooner than then, but this was the earliest appointment that the surgeons office could get for us.  They tried.  But I am hoping we can get on a cancellation list or SOMETHING to get in earlier. 

Also, for the March of Dimes walk t-shirt contest, I had originally set the deadline as April 18th.  Well, to get the shirts done in time (and with everything going on with Claire) I have to change the deadline to this Tuesday, April 12th.  Sorry about that!  Next year I will give more notice. 

Love,
The Scott Family

Friday, April 8, 2011

Androgenetic Biparental Mosaicism, Placental Mesenchymal Dysplasia, Hepatic Mesenchymal Hamartomas, and Beckwith-Wiedemann Syndrome

I literally just spent the last 2 hours writing this post and then it got deleted.  I cannot believe it.  I am going to try to retype it again.  I know it will not be as good as the last one.  

Those 4 things in the title of the blog are a mouth full, but mean a lot to us.  This is going to be an extremely long post, so if you don’t have time, come back! 

I will start from the beginning since that is the best way I know how to explain everything in the subject of the blog.  I was obviously pregnant with Claire when we went to find out the sex of the baby.  At the ultrasound, we immediately saw she was a girl!  But then the US technician spent a lot of time scanning the placenta, I was wondering what was wrong.  We saw the ob/gyn after the US and he confirmed we were having a girl.  But then he said the US tech noticed that my placenta didn’t look normal, so they wanted to send me to ECU to get a level 2 ultrasound.  I had already been told that I may have a small bleed behind my placenta and I had been having regular spotting.  So this scared me to death!


This is the ultrsound on July 23rd where the placental cysts were first seen.  On the far left of the picture, you can see the black circles.  Those are the cysts.



Of course we found this out at 5 pm on a Friday.  So I spent all weekend trying to Google what could be wrong with the placenta.  I knew the doctor had said something about possible cysts or aneurysms.  But I couldn’t really find anything online.  And by now you know that when I hear something bad, I tune out everything else after that.  So Monday morning I called the doctor back to see if he would mind going over it again with me.  He wasn’t sure why I was so “concerned.”  His exact words to me were:  “Frankly, I am not worried about it.  It’s not a big deal!”  Little did he know…..

To try to make a really, really long story short – we went to ECU, the doctor saw the “placental mass” and said it was probably a cluster of cysts or aneurysms.  We would just watch it and make sure it didn’t take over the placenta.  At this same appointment is where she noticed something not quite right with Claire’s heart.  We came back for the fetal echo where they diagnosed Claire with tetralogy, and at this appointment they noticed a small spot on Claire’s liver.  So thank God for the US tech that noticed something not right with the placenta that allowed us to find the tetralogy and liver cyst early enough.  (This version is WAY shorter than the one I had already typed!!!!!!)

We went to Duke on September 3rd to get a second opinion.  The ob/gyn there confirmed the tetralogy and also noted the liver cyst.  At this appointment, the cyst was bigger than Claire’s heart and stomach – it had grown a lot since they first saw it about a week before.  The ob/gyn said that day that the cyst may become the priority for Claire over her heart.  I did not believe him.  What could be more important than her heart issue??  But he ended up being right. 




This is Claire's face on the right with her head pointing towards the right.  You can see her nose bone well.  The big black circle on the left is the liver cyst on September 3rd at Duke. 

A profile picture of Claire's face and body.  You can still see the large black circle which is the liver cyst on September 3rd at Duke. 

So a few weeks later, I became really swollen and looked 9 months pregnant instead of 6 months pregnant.  We all just thought it was the fluid catching up with me.  Little did I know that a few days later I would be in pre-term labor at Duke at 28 weeks.  The Wednesday and Thursday that I was first at Duke are a blur.  I was on so much magnesium sulfate it’s not funny.   I couldn’t see straight, had no reflexes, and felt like I was on fire all in an effort to stop the contractions. 

Luckily, that Thursday, the ob/gyn working that day was the one who saw us on September 3rd so he was familiar with our situation.  I don’t remember much that day, but I do remember that he said that Claire’s liver cyst had taken over her body.  It was not allowing her to swallow the amniotic fluid therefore the fluid had backed up inside my belly and put me in labor.  It was a do or die situation literally.  They were going to have to drain the cyst in-utero and also drain amniotic fluid right then or both Claire and my life were in danger.  These doctors, nor any other Duke doctors, had done this procedure before according to him.  But we trusted them and they drained both.  The contractions immediately stopped. 

You have probably read “the rest of the story” about Claire’s liver cysts and the repetitive draining and the fenestration surgery she had.  After the fenestration surgery, they determined for sure that the cysts were Hepatic Mesenchymal Hamartomas (HMH).  Here is a medical definition/description of HMH:


Hepatic mesenchymal hamartoma is a hamartomatous growth of mesenchymal tissue in the liver of uncertain etiology.  It is a space-occupying lesion that can potentially compress adjacent organs resulting in various complications including death.  Hepatic mesenchymal hamartoma is characterized by proliferation of variably myxomatous mesenchyme and malformed bile ducts.  The differential diagnosis includes other pediatric hepatic masses.  The diagnosis is typically made during infancy, and complete resection is invariably curative.  (Arch Pathol Lab Med. 2006; 130:1567-1569)


In the research that I have done, I have found that the HMHs are very rare and very fatal to the baby.   A lot of them are undetected in-utero and therefore they crush the fetus’ heart or other organs and the baby dies.  Thank God again for that US tech that sent us for the level 2 US.  If she had not recommended that, then we probably wouldn’t have had another “routine” ultrasound the outcome could have been a lot worse. 

This is the MRI of Claire's abdomen before the fenestration sugery.  The big white circle is the large/original cyst.  As you can see, it took over her whole abdomen. 


In the meantime, the placenta was being analyzed in the lab at Duke.  They came back with a diagnosis of “severe placental hyrops” which means severe placental cysts.  The doctor said there was not just one mass of cysts, but rather the whole placenta was now cystic.  It was very big and was the consistency of a 40 week old placenta and was out of steam.  By then my mind was turning.   Didn’t it make sense to anyone but me that the placental cysts probably had something to do with the liver cysts???  It was just coincidental.  But none of the doctors could tell me yes or no.  Everything is just so rare, there is just not a lot of data on it. 

So my mind got to thinking….and I started doing my own research online.  The more I read about HMH, the more I became thankful that Claire is still alive.  I also started trying to make the connection between the placenta and the liver cysts.  I found several medical journals making the connection between something called Placental Mesenchymal Dysplasia (PMD) and HMH.  Once I read what PMD consisted of, I knew right then and there that Claire’s placenta had PMD!  And the ultrasound pictures online of PMD matched my ultrasound images.  And there is a link between the PMD an HMH! 

Here is a description of PMD that I found online:

placental mesenchymal dysplasia

HP:10377
Placental mesenchymal dysplasia is a rare human placental disorder in which the placenta is enlarged and contains cystic villi and dilated vasculature. In contrast to a partial mole, mesenchymal dysplasia may coexist with a normal fetus.
Synopsis
 placenta enlarged with abnormal, large, and often cystic villi
 placental dilated and/or thick-walled vessels
 large, hydropic stem villi
 myxomatous stroma
 cistern formation
 ’chorangiomatoid’ changes

Etiology
 normal karyotype (89%) (15791673)
 abnormal karyotype (11%) (15791673)

 Beckwith-Wiedemann syndrome (23%) (15791673)
Differential diagnosis
 partial hydatidiform mole
  • In contrast to a partial mole, it can coexist with a fully viable fetus.
Associations
 Fetal anatomical and vascular anomalies
References
 Francis B, Hallam L, Kecskes Z, Ellwood D, Croaker D, Kent A. Placental mesenchymal dysplasia associated with hepatic mesenchymal hamartoma in the newborn. Pediatr Dev Pathol. 2007 Jan-Feb;10(1):50-4. PMID: 17378624
 Cohen MC, Roper EC, Sebire NJ, Stanek J, Anumba DO. Placental mesenchymal dysplasia associated with fetal aneuploidy. Prenat Diagn. 2005 Mar;25(3):187-92. PMID: 15791673




So now how to prove that Claire’s placenta had PMD and not just severe placental hydrops.  I searched and found a name of one of the research pathologists who worked at Seattle Children’s Hospital.  I emailed him thinking if he emailed me back, that would be great.  And if he didn’t, it wasn’t anything lost but time.  That night he emailed me back and pretty much said without looking at the pathology slides and tissues, that he was sure the placenta had PMD. 

We talked on the phone and he suggested Duke send him the pathology information so he could take a look at it.  Fortunately, I was able to contact one of the best ob/gyns at Duke and she helped me out.  She forwarded my request to the Duke pathologist and he sent the information to the Seattle pathologist.  A few days later, the Seattle doctor emailed me his clinical findings with the diagnosis of PMD and confirming the HMH.  Great!  We are getting somewhere!!!

He had also mentioned Androgenetic Biparental Mosaicism and Beckwith-Wiedemann Syndrome, but I will get more to that later.  For now, we know that PMD can cause HMH.  So the connection has been made.  Sometimes I wondered if the doctors didn’t push the issue because they didn’t want me to feel like it was something I did to create Claire’s liver issues.  But deep down, I have known the whole time the two were connected.  We had even discussed “mirroring syndrome” at one point where her body was mirroring mine with the cysts.  But now we have a medical diagnosis and a medical reason for the HMH.  

So now that I had the connection made between me and Claire I felt better just knowing.  But remember the Seattle doctor mentioned ABM and BWS.  So what is ABM?  Well, I am not completely sure.  I have done some reading on it and he explained it to me the best he could over the phone.  For someone who has not been to medical school, I somewhat understood the basics of ABM.  I know that it is a fairly new thing that they are researching.  And he believes that ABM is the cause of most PMD. 

From what I understood, ABM is a “random error” that occurs in the DNA of the fetus right after fertilization.  The fetus still has the normal 46 chromosomes, but in some of the chromosomes, the fetus can have more of one parental allele than the other.  Basically you are supposed to have an even number of maternal and paternal alleles.  But ABM is where some of the chromosomes are uneven.  This error can cause the PMD and HMH or other defects.  But more commonly PMD and HMH. 

I don’t know a whole lot about the ABM yet.  I am still learning.  The Seattle doctor suggested we see a geneticist so she could do some testing and better explain things.  Not all PMD and HMH are caused by ABM.  But as they research it, they are seeing it more and more.  To test for ABM, I, Trent, and Claire would have to get blood drawn.  I think that’s it.  As far as do they think it could happen again???  They don’t think so since it’s a “random error.”  What does it mean for Claire if her liver has ABM cells in it?  I don’t know.  Could other organs in her body have ABM?  Possibly. 

So we have made an appointment with a geneticist at Duke.  Fortunately, this geneticist is also a cardiologist and has seen Claire on occasion while she was at Duke.  So she’s somewhat familiar with Claire.  And we like her! 

Then onto the Beckwith-Wiedemann Syndrome (BWS).  Of course when he said this I blurted out that Claire had been tested for chromosomal disorders through my amniotic fluid and her blood, and they both came back as normal.  But as with the Di George Syndrome, they have to send of special test for BWS.  Basically with Di George or BWS, the baby still has the normal number of chromosomes.  So it wouldn’t show up on the tests that she had.  They would have to specifically test for BWS since it is just a deformity of one of the 46 chromosomes. 

I immediately looked up BWS online to see if Claire had any of the symptoms or signs of it.  Here is what I found about BWS:

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and continue to grow and gain weight at an unusual rate during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern is known as hemihyperplasia.
The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Many people with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Most infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.
Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.
About one in five infants with Beckwith-Wiedemann syndrome dies early in life from complications related to the disorder. Older children and adults are much less likely to have serious medical problems associated with the condition.

To my untrained eye, she does not have any of the signs and symptoms of BWS.  And also according to Dr. Rachel’s expert opinion of knowing and looking at Claire.  J  So I am hoping we don’t have to worry about the BWS stuff.  But the Seattle doctors said it’s sometimes associated with the ABM, PMD, and HMH, so we may investigate just to be 100% sure. 

So FRANKLY, all of this WAS a big deal.  I have yet to write a thank you note to the US technician, but I plan to do that soon.  Without her expertise, this story could have turned out way differently.  And I hope that this information can be helpful to others in the future.  I have searched for other mothers who have dealt with all of these things with no luck.  It’s just such a rarity that I guess the only things I can find are medical journals and research about it. 

We will continue to get to the bottom of everything.  I like answers.  Yes, I know that only God knows all of the answers and there is not always an answer to everything.  But when there is an answer out there, I just have to find it.  And when it comes to Claire and her health, I will search tirelessly.  Do I blame myself now for her liver cysts?  No, I don’t.  Do I want to know if this would happen again if we decided to have more children?  Yes, but I doubt I will find out that answer until it happens. 

I will continue to update the blog as we find more answers.  I hope this helps other women to know when to look deeper into their gut feelings (no pun intended). 

So congratulations on your very first class in medical school by me!  :)

Love,

The Scott Family