Tuesday, March 22, 2011

Sarah's New Haircut


Sarah is now 3 weeks post surgery and doing great. She had an opportunity to get a hair cut and pick out some new headbands. Her excitment this week of course is her birthday and is very much looking forward to returning back to school on Thursday to enjoy cupcakes with her friends. Our girl looks so grown up :)

Friday, March 18, 2011

Momma's down for the count

Sure enough just when we thought things were looking up......Mom gets the stomach bug!!! The same day I was to return to work I felt a little sick to my stomach.....I thought maybe it was just some nervous jitters or something. I few hours into work and still feeling ill I was proven wrong.....it was the stomach bug. I had to leave work early and was down for the count. I was so so very grateful to the grandparents who took the kiddos in hopes to halt anymore illness and give me some well deserved rest. Bill who had made a wonderful corned beef dinner for the St. Patrick's Holiday ended up eating it all alone :) He did however make sure I was well taken care of. Still under the weather today I am forced to stay home. The kids are doing great!

Wednesday, March 16, 2011

16 Days Post Surgery Pics



16 days post surgery and Sarah looks great!!! Swelling has almost completely gone, just a little puffy around her eyes (probably something only a Momma would notice :) )
Mommy is heading back to work tomorrow and we will hopefully regain a normal schedule starting sometime next week.....say around Sarah's 4th Birthday next Thursday. If all is well Sarah will go back to school on her Birthday Day and celebrate with some cupcakes with her friends. She can't wait to get back to school.

Tuesday, March 15, 2011

A Minor Set Back

Just as we thought things were going well Sarah had a set back.......the stomach bug! Which at any other time would not be pleasant either but for a little girl healing from such a big surgery was tough. The stomach bug hit Saturday, and by that evening the pediatrician office was recommending we bring her to the ER at Children's Hospital. We are so grateful and thankful to our friend Mary who came over to stay with Jason who was already fast asleep in his bed. Bill, Sarah and I headed back into Boston. We had never been to the ER there but were surprised how fast we signed in and made it through triage. Sarah was quite dehydrated and in need of IV
Fluids. She was pale and lethargic and had a terrible belly ache. We were told she would be admitted and Bill headed back home and got there around 2:30 am with the time change. Sarah and I were in the ER until about 6am when they finally moved us up to her room, which coincidently enough was 2 doors down from her previous room. A sleepy Sarah and Mom "tried" to sleep but you know how it is at a hospital. Sarah continued to show difficulty with her eating and drinking so it was decided for her to stay another night. Part of the reason Sarah became dehydrated so quickly was her blood loss from her recent surgery and the fact that at the present time she is anemic. Monday proved to be a better day for Sarah and after she could show she was able to drink better we were discharged late afternoon. Bill and Jason came to pick us up and Jason and Sarah had sometime to play in the playroom. In fact the timing was just right that there was a music therapist that was there playing the guitar and singing. We headed home in rush hour traffic, but the good news was we were headed home. Sarah is slowly building up her eating and drinking and is feeling better today. She does still say her belly hurts but it is mostly around eating. On a happier note Sarah's surgery site looks great and swelling has gone down!!! Yeah

Saturday, March 12, 2011

Guess who's got the stomach bug?

Just as things were looking up Sarah has now developed the stomach bug. We don't intend to gross anyone out with details so no worries there. We are concerned that her weakened body may not be able to handle the stomach bug if it lasts too long. We have been in touch with her pediatricians office and the team in Boston. If there are any signs of dehydration we will have to head to the hospital which would most likely be UMASS as it is closer. Let's hope that doesn't happen and think positive thoughts.

Friday, March 11, 2011

Successful Dr's Visit

Today Sarah and I headed into Boston once again for Dr. Meara to get another look at those fluid pockets. Our appointment was a 12:45pm.....and we were squeezed in between the Doctor in the OR and his clinic. We waited for 2 hours for great news. Sarah is doing great. Swelling is down. Pockets are getting smaller. We are out of the woods! Dr. Meara is very pleased with Sarah's progress and we don't have to see him until April 11th, unless there is a need to do so before then. Although Sarah does have some fluid left it is decreasing/absorbing more everyday and should continue to do so. We were aware Dr. Meara would be unavailable for a couple weeks at the end of the month so I kindly said to the Doctor "have a nice vacation" to which he responded "i don't know if I would call it vacation". I gave the doctor a confusing look and he responded "I am headed to Rwanda" and I said "well I guess that is not vacation then huh". He chuckled and I felt like a goofball. Dr. Meara is part of Doctors Without Borders and has been to quite a few places.......I knew I liked him. Something about a do-gooder that warms the heart. Even if there happens to be a need to return to the hospital for any reason there is a very good team of experienced doctors that would be able to help out.

Thursday, March 10, 2011

Scrub-a-dub-dub!

These two love their tubby time and were happy to get into the bath tonight. We had to keep reminding Sarah not to submerge her head in the water and she did a great job listening! Even with some restrictions it was a happy time for them both.

Sarah is singing, dancing, playing, etc. She is happy most of the time, except when a little brother takes a toy or whatever. Night continues to be a struggle for her and she has been very restless in her sleep.

We continue to monitor the fluid pocket which can easily be seen in this picture. (Well at least we can see it) The right side is still pretty big and hasn't seemed to go down since yesterday. The left side pocket is still there but significantly smaller. We will head back into Boston tomorrow to see what Dr. Meara thinks. Again, we are hoping the issue resolves itself and does not need medical intervention.

Wednesday, March 9, 2011

Reunited!!!


Sarah and Jason could not be happier to be reunited, and Bill and I could not be happier to have our family all back together at home! The smiles on their face are priceless. And yes Jason is wearing Sarah's shoes. As soon as she took her shoes off Jay put them on. A big thank you go out to the grandparents for taking such good care of Jason in our absence!!!
Sarah and I drove to Waltham to meet with Dr. Meara at the Children's Hospital site there. Dr Meara is pleased that the fluid pocket on the left has gone down a little but somewhat concerned about the fluid pocket on the right. So Sarah now has another appointment on Friday at Children's in Boston for the doctor to take another look. Dr. Meara didn't feel comfortable waiting the weekend to see her again. Again lets hope that this resolves itself and no other intervention is needed. Sarah continues to be very pale and although has some energy is not completely back to herself.

Tuesday, March 8, 2011

A Week After Surgery....


It's been a week since Sarah's surgery and it is hard to believe what this little girl has been through this past week. Besides some swelling and stitches she seems just about back to the Sarah we love and know. Last night Sarah had a bit of a restless sleep but woke up happy as a clam. She continues to eat well and we are giving her some iron supplements to give her body the boost it needs. She is on little to no pain medication, just some tylenol before bed. Today we had a relaxing day at home and a visit from Grandma and Grandpa. Grandma and Grandpa brought some tasty delights. We have been so blessed and not have not had to make a meal. Debbie made us some Swedish meatballs and cupcakes which we enjoyed last night. Sarah has particularly enjoyed Michelle's chicken noodle soup and Debbie's cupcakes. Tomorrow we go to see Dr. Meara to follow up on the fluid pockets that look just about the same if not just a little bit bigger than yesterday; however, the doctor said that can happen. The big excitement is for the return of Jason Jeffers tomorrow......oh how we have missed him!!!!

Monday, March 7, 2011

Back home we go

After waiting 1 1/2 hours we got the okay to go home. We were waiting for Dr. Meara to get out of surgery. The fluid pockets are on watch and we will see Dr. Meara late Wednesday morning in between surgeries for another check. Dr. Meara said everything looks really well and he feels like the fluid will go away over the next few days. Better to be safe than sorry. So we are headed back home....in rush hour traffic! Nonetheless happy to be going home and not having to stay here. Sarah was a very patient waiter.

Back to Boston already

Just heard back from Dr. Meara's office.....headed back to his office at Children's Hospital Boston for 3pm. He wants to see the fluid pockets. Let's hope we are able to come home.

Happy Monday


Hello Everyone :) We are all so happy to have spent a comfortable night home and to have had a great nights sleep. Sarah is doing great. Full of pep and energy. Sarah was to follow up with Dr. Meara (plastic surgeon) on Wednesday or Thursday; however, when we removed her head wrap this morning to see how the pockets of fluid look we noticed right away that they had gotten bigger. You might be able to see the pockets in this picture. They are on each side of her face, aside of her eyes and near her ears. We are awaiting a call back from Dr. Meara's office as they will probably need to see her today or early tomorrow. Hopefully this situation subsides on its own and will not need any intervention. Sarah has been busy this morning painting at the easel, coloring in her coloring book, watching some cartoons, and she ate great at breakfast. Daddy has been giving Mommy some time to catch up on some sleep....Thanks Daddy! For now we await the call from the doctors and are grateful to be spending time at home.

Sunday, March 6, 2011

Home Sweet Home

We are happy to be home!!!! Sarah couldn't be more excited. Jason will be staying with Mimi and Papa a little longer until Sarah gets a little stronger. Sarah is missing her "JJ" as she has begun to call him. She had a nice bath and is feeling pretty good. We received a wonderful meal tonite from good friends!! Thank you Michelle and Fran :) We are heading to bed shortly. Our love to everyone who has and continues to follow Sarah's journey.

Going Home

Just got the news we are heading home today!!! Hip hip horay!!!! The team came to take the drain out of Sarah's head, and although she still has some fluid build up they feel it is best for her to go home. We will follow-up with Dr. Meara early this week. We are going to go down to the gift shop to pick out a little gift and card for her new friend Lauren who hopefully will get to head home today too! We will cross our fingers for them to hear good news and be able to head home.

Saturday, March 5, 2011

A New Friend


Sarah has made some progress. She is taking walks around the floor and has visited the playroom. She had a stomache ache for most of the day but is now feeling much better. We spent the evening visiting with Sarah's roomate Lauren and her parents. This is one of the nicest families you will ever meet. They have such a kind and gentle way with their daughter and have treated us just the same. Lauren, age 8, is an awesome little girl. She has been through alot herself and shows so much empathy for others. She and Sarah spent sometime coloring together this evening. It was one of the happiest moments we have spent since we have been here! We look forward to spending some more time with Lauren and her family tomorrow. Spending time with a friend has really given a little lift to Sarah's spirits.

Sarah's drain still remains in her head and they have put a wrap around her head to put some pressure on the skull to release more fluid. Hopefully the drain will come out tomorrow and Sarah will pick up with her eating and drinking. She had difficulty keeping her medication down today and is on iv fluids again tonight to replenish what she lost.

Saturday Morning Update







When Sarah slept last night she slept very well. The difficult part is that she is taking all her meds by mouth now and she is having trouble keeping them down. She either has thrown them back up or they give her a stomach ache. She has been a trooper taking them although she doesn't want to and tells me to "throw them away". Due to the fact she has this stomach ache she doesn't want to eat much. We try and remind her that her belly will feel better with food in it. She did take a couple bites of bagel and cream cheese this morning and had a few sips of prune juice (to try and help in that department). Part of the team came in to evaluate Sarah this morning. They were going to take the drain out of her head today; however, their are small pockets of fluid near her ears. They are keeping the drain in for today as well to try and get rid of some of this fluid. They are also going to put on a wrap around her head to put pressure along the surgical site to try and get rid of some fluid. Here are a few pictures of Sarah from today and a picture of Mimi rocking Sarah yesterday. We are very thankful for all the help we have received from our parents in many ways. We miss Jason so very much but know that he is and has been in good hands.

Friday, March 4, 2011

Tomorrow is a new day

So they say that you need to say six things positive to make up for something negative. Today was a draining day on all levels; however, we are happy to have our health, employment, shelter, each other, family and friends. I suppose when you look at it that way it doesn't seem so difficult, but it feels difficult. Sarah is making progress on many levels but is so depressed and down. She is having such a hard time being here and we keep trying to remind her that she has done nothing wrong. We tell her that her body needs to get stronger. We are so blessed for all that we have and must remind ourselves of this as a motivation to lift us up.
Sarah did take a few steps today which was wonderful to see. She is a little unsteady on her feet but did very well with assistance. Sarah's dinner never made it to our room tonight so we went down to the cafeteria and we had a dinner date. Smiles from Sarah were far and few between today; however, she did enjoy getting out of her room to check out the playroom and stroll around. Tomorrow is a new day.

Dr. Update

The entire cranial-facial team just came by to check on Sarah. They have decided to keep her here another day or so. The drain from her head continues to put out a good amount of fluid so they would like to keep that in another day. The swelling has gone down and overall they are very pleased with the outcome of the surgery. Sarah remains to be quite lethargic. They are going to begin to give her so iron to make her feel a little better. Sarah had a few bites of Rice Krispies this morning and a bite of a peanut butter cracker. We hope to get Sarah cleaned up a bit and out of the room today. They have a wonderful playroom down the hall which we hope will brighten her day. Thank you all for your love and support!!!

Day 4-Recovery: Good Morning


Good Morning Everyone. After Sarah fell asleep last night she slept the night through. She woke up this morning and is able to open both eyes not all the way but just enough to see which is fantastic. She continues to be a bit sad about everything but we hope that she may be able to do so fun things today to brighten her spirits. We have started the morning out with a little bit of coloring. The doctors are doing rounds and we will have a visit by Dr. Meara in about an hour to talk more about her plan.

Thursday, March 3, 2011

Not a good start to the night

Sarah has spent a good majority of the evening screaming crying......she doesn't want to be here. I don't know what to do for her other than to just be here. :(

First Smiles


These are some of the first few smiles we have gotten from Miss Sarah. She had a few special visitors today who brightened her day and got to take a go-cart ride around the floor. She is still unable to get out of bed and see completely but enjoyed this time out of her room. Unfortunately this time was short lived as Sarah is feeling so sad and wants to go home. She is sore and doesn't want anyone to touch her. She is all out of sorts. We hope some pain medication will make her feel a little better.

Day 3-Recovery




Sarah had a great nights sleep. The plastics team came this morning to remove the dressing from her head. She is definitely more swollen today then yesterday and her spirits are down. She is frightened that she cannot see anything and is just so sad. We are so sad for her. It is kinda of a sad day. We know things will get better each day but it is still hard to go through. She continues to show little to no interest in food but did have 3 or 4 cheerios last night and a bite of toast.

Wednesday, March 2, 2011

Goodnight

I write to you all as Sarah quietly sleeps in her bed. This is the most restful sleep I have seen her have since we have been here. Her eyes are now completely swollen shut and she cannot see. They tell us this is usually the height of when she will be swollen. I just feel so bad for her. And all these people (doctors and nurses) as kind as they are make her anxious because she thinks they are here to take blood or hurt her. We have had a total of 5 nurses so far. Last nights nurse named Lauren was Wonderful! And then this afternoon when we moved to the children's floor Nurse Karen was fabulous! She really tried to get to know Sarah and moved us to a more roomy spot by the window. Not to say the others were not kind, they did there job but when people go above and beyond for my kids they go right into my heart :) So yes, we moved from the ICU to the children's floor....we are on the 9th floor, room 902B. This portion of the floor is dedicated to patients who have had neurosurgery or have a neurological disorder, and because half of Sarah's surgery was neurosurgery we are here. When we arrived into the room Sarah had a roommate, a little girl named Lauren who was just cute as could be. She was here to have a brain tumor removed. My heart goes out to Lauren and her family and to so many of the families who are dealing with so much. Lauren was discharged and we thought we had the room to ourselves but as I write we just got a new roommate. From what I can hear is a little boy, maybe around age 5.....hopefully we have a quiet night. Til tomorrow night night.

Day 2-Recovery







These are pictures from today at noontime. Sarah's eyes are almost all the way swollen shut. She is being such a little trooper. We are awaiting her transfer to the children's floor on the 9th floor-the neurosurgery patient side. She did have another bout of vomiting this morning and has not wanted to drink anything since last night. She is receiving iv fluids but they would like to see her drink on her own at some point. We think she is afraid to drink anything because she will "throw up". The doctors continue to be pleased with her progress. It is so hard for us to see her like this, we feel helpless. It does seem to ease her anxiety to have us at her bedside. Thank you all for your support, prayers, and kind words. I believe we will have access to our cell phones on the children's floor. Thank you for those who have left messages it has been difficult to return calls. Sarah is currently watching (really listening because she can't see well) Mickey Mouse Clubhouse and is starting to engage in small bits of conversation. She was able to tell Daddy it was a new Mickey Mouse Show........hopefully this is a good sign.

Wednesday Morning Update

Sarah continues to be making great progress. The doctors say she will probably move out of the ICU onto the Children's floor at somepoint today. It was a long night for Miss Sarah who had naseua and vommiting throughout the night. She hasn't been able to keep any liquids down yet which is not unusual given the amound of time she was under anesthesia yesterday. She is a little more swollen today but no too bad at all. Her blood count is a little low so they are considering giving her a blood transfusion. They will take her blood count in a couple of hours to make that decision.

Tuesday, March 1, 2011

First Post-OP Pics




So we finally got to see our Sarah. She is still very sleepy but will open her eyes off and on to see what is going on. She is stable and as comfortable as you can be with all she went through today. The nurses seem to be right on top of whethter she is having pain and give her morphine as needed. We are so very proud of our brave girl. I don't know if you can notice from the pictures but we can see a difference with the advancement of her forehead already. This helped with three things: It gave her skull more room to grow, gives her eyes more shelter, and creates a much more proportinate look to her face. I think this is the best picture of Sarah you will see for a little while. The next few days will bring bruising and swelling. She asked for a drink and had a few big sips of some ice water. Her lips are so dry and I am sure the breathing tube they used left her throat a little scratchy. Next on the menu maybe when she wakes is some cold treats. Perhaps a popsicle or ice cream.....we shall see. Daddy has headed home for the evening as we are both exhausted from the early wake up and just the whole day in general. Last thing we wanted was for Daddy to get stuck in traffic....we have all had enough stress today. Mommy is staying with Sarah and will be sleeping on a bed by the window. Sarah has not needed a blood transfusion as yet which is amazing the doctors tell us but is not out of the woods of needing one. She is just on the border now so we will see. The nurse tells me she is doing great. Her blood pressure is a little low but they gave her something to try and help that. The ICU requires that cell phones be powered off at all times so if you need to reach anyone you can call Bill. We think it is so important to show you pictures of Sarah and her progress so as not to be afraid. It is easy to be afraid of the unknown, and I am sure she would agree (She's quite smart ya know :)).
Bill and I are in the Pediatric ICU Family Room awaiting the go ahead to see Sarah. It is taking longer than we would like but we want whats best for Sarah so we must be patient!

Surgical Portion Complete

Dr. Meara (plastic surgeon) just came out to let us know the surgery was a big success. They were able to complete everything they needed to with no problems. Again, he was able to advance her forehead as planned and fill in most of the boney gaps. Sarah continues to be stable. Anesthesia will continue to be with her for a little longer. Dr. Meara reports we should be able to see Sarah in about 45 minutes or so in the ICU. Thank you all for your support and prayers.....keep doing what your doing cause its working! Bill and I are relieved that the surgery is over and are anxious to be back with Sarah.

2nd Update-11:00am

Dr. Proctor (the nuerosurgeon) just came out to give us an update. Sarah is stable and doing well. Surgery is progressing along. He did report it did take some time to get to bone and there were a couple of tears in the Dura (covering of the brain) but that he was able to stitch them up and feels it won't cause a problem. Tears in the dura happen easier during subsequent surgeries, the risk is that spinal fluid will leak out. Like he said though they have been repaired and they will watch them closely. He reports they were able to advance the forehead about 11 milimeters and that they are now working on repairing the boney defects (gaps in her skull). Dr. Proctor reports Dr. Meara (the plastic surgeon) estimates the surgery portion being completed in about an hour and a half.

1st Update

We just got our first update. After anesthesia was all set the first incision was made at 8:29am. The OR nurse reports because of her previous surgery (which we are aware of) it is a little bit more difficult to get to where they need to go from things like scar tissue, etc. Everything is going well so far. She is stable. We'll take it.....let the docs take their time and do what they do.

All Systems Are A Go


All systems are a go! Sarah went into surgery around 7:30am. The doctors have told us that between anesthesia and the surgery it will be a total of 4-6 hours. They will update us at some point.
We are thankful to be surrounded by such a supportive team of doctors and nurses.
We will update you as we get updates.

Monday, February 28, 2011

Almost there.......

Today was busy here. Grandma kindly came to pick Jason up to stay with her and Grandpa til Wednesday. We are gonna miss our guy but we know he will have a great time. Shortly after Jason left Mimi and Papa arrived with Sarah. And yes it was planned that way so Jason and Sarah wouldn't have to get upset about leaving each other again.....they are so missing each other.
Oh how we've missed our girl! We were so excited to she her. Sarah is doing great. She looks good, she is energetic, and we feel as though she is back to her baseline. We called Children's Hospital to find out what time we needed to be there tomorrow morning........6am! Her surgery is scheduled for 7:30am. That means we will be leaving our house at 4:30am.....that hour will come fast. Sarah is aware she is going to the hospital and although she shows some anxiety about it she is being really brave about the whole thing. Tonight we will spend some quiet time with Sarah and head to bed early. We are hoping and praying that there will be no problem with proceeding with the surgery, as Sarah looks great to us but we don't make the final decision. We hope to give you updates throughout the day tomorrow.

Sunday, February 27, 2011

Sarah's All About Me Book


Today we created an "All About Me" book for Sarah to bring with her to the hospital. It has lots of pictures of her family and talks about things that she likes to do. We hope it will bring her comfort. It will give the nurses and doctors a chance to get to know Sarah better and our hope is they can engage her in conversation about things she is familiar with.
Sarah has continued to stay with Mimi and Papa and although we miss her so very much we know that is how to keep her healthy. Jason is still not feeling well and went back to the doctor today. Diagnosis=Sinus Infection. He started an antibiotic today and will hopefully be on the mend.
We hope and pray that all our efforts to keep Sarah separated from the sick germs at the house will pay off and they will be able to do the surgery. Mommy is finally feeling much better and is thankful that she has her strength back to continue on this journey.

Friday, February 25, 2011

Standby

What's life without a little bit of drama? The latest is that Sarah's surgery team has been somewhat unsure whether to proceed with the surgery due to her Strep throat. We received the "go ahead" today from the anesthesia team who make the final decision. Unless Sarah has a productive cough, cold, or is not back to baseline they will proceed with the surgery. They feel good that Sarah will have finished her antibiotic prior to the surgery. Sarah is feeling much better; however, does have a little cough and runny nose. Her spirits are good and she is almost back at her baseline. In an attempt to nip this all in the bud Sarah will be spending the next few days at Mimi and Papa's house. Jason and Mommy are sick with colds and we feel the house is "contaminated". It has been a very stressful week here at our house! We hope the next few days give us time to build health and strength for us all. Again we are so thankful for every ones support...and especially to Mimi and Papa for taking Sarah! We will miss her :(

Tuesday, February 22, 2011

One on the mend, the other down for the count.

Sarah's fever broke yesterday, and she is up and about. A couple more days and she will be as good as new. Unfortunately poor Jason is now sick with a high fever and cold, but does not have Strep thank goodness. Mommy has a cold, but Daddy is holding on strong. Hopefully the household gets this all out of our system as we are a week away. Keep thinking healthy thoughts.

Sunday, February 20, 2011

A Minor Set Back

With 9 days to go we have hit a minor bump (we hope). Miss Sarah has Strep Throat! She started complaining of a sore throat yesterday and her fever spiked over night. Poor thing has had the chills and is just miserable. We went to the doctors office where they confirmed the strep and prescribed an antibiotic. Hopefully we can nip this in the bud before her surgery. At least she got sick now and not a couple days before the surgery. Think healthy thoughts :)

Thursday, February 17, 2011

Dr. Sarah Jeffers

Dr. Sarah Jeffers is in the house! Sarah has opened up her practice in our playroom, and the waiting room is in the living room. You need to wait your turn until she calls you in. It is quite cute. She pretends to take your blood like she had taken at the hospital this week, and will listen to your heart. FYI.....she is taking new patients!

Tuesday, February 15, 2011

Pre-Op Visit at Children's Hospital

Today I took Sarah for her Pre-Op visit at Children's Hospital. We had to be there for 9am and true to fashion traffic was horrendous but we made it! The first thing Sarah saw was a computer which she happily played with as we waited. It was a busy morning. We met with Nursing, Anesthesia, Admitting, a Plastic Surgery Nurse Practitioner, and finally went to the Laboratory for blood work. Sarah was quite a brave girl as they they took blood. Everything is on schedule for March 1st. We hope and pray Sarah is able to stay healthy over the next 2 weeks so we can proceed as planned. The doctors, nurses, and staff at Children's Hospital continue to be so helpful and kind to Sarah. We feel like Sarah is in good hands. Other than the blood work she had done today, she had a great time coloring and doing activities with the Child Life program at the hospital. As of now Sarah thinks the hospital is a pretty fun place. She left with a balloon and prize in hand.

Wednesday, February 9, 2011

What is Saethre-Chotzen Syndrome

Sarah has what's called Saethre-Chotzen Syndrome. This genetic condition is the cause for the Craniosynostosis. Anyone can be born with Craniosynostosis but those who have this genetic condition are higher at risk. Usually when the craniosynostosis repair is completed subsequent surgeries are not needed; however, because Sarah has Saethre-Chotzen the fusion happens at a higher rate. Saethre-Chotzen syndrome presents itself differently in each person and each family. For example, Jason has the same syndrome but does not have Craniosynostosis. Jason has the ptosis (droopy eyelids), but Sarah doesn't have that. Below is more detailed information about the syndrome:


What is Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, unusually shaped ears.
The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild abnormalities of the hands and feet, such as fusion of the skin between the second and third fingers on each hand and a broad or duplicated great toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects.
Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a mild variant of Saethre-Chotzen syndrome.
How common is Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to 50,000 people.
What are the genetic changes related to Saethre-Chotzen syndrome?
Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The TWIST1 protein is active in cells that give rise to bones, muscles, and other tissues in the head and face. It is also involved in the development of the limbs.
Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. A shortage of the TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen syndrome, including the premature fusion of certain skull bones.
A small number of cases of Saethre-Chotzen syndrome have resulted from a structural chromosomal abnormality, such as a deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. These features are typically not seen in classic cases of Saethre-Chotzen syndrome. Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features.
Read more about the TWIST1 gene and chromosome 7.
Can Saethre-Chotzen syndrome be inherited?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Some people with a TWIST1 mutation do not have any of the obvious features of Saethre-Chotzen syndrome. These people are still at risk of passing on the gene mutation, and may have a child with craniosynostosis and the other typical signs and symptoms of the condition.

What The Surgery Involves and Why?

The team of surgeons working with Sarah are going to perform three procedures the day of Sarah’s surgery. The first is a Craniosynostosis Repair in which they will increase the size of her skull and allow her brain more room to grow. The second is to fill in any gaps in bone. There are lots of little soft spots on Sarah’s skull where bone did not fill in from her previous surgery. They will use pieces of her own bone mixed with another material to fill in these spots and it will generate bone growth. The third procedure is called fronto-orbital advancement. Sarah’s forehead is very flat, pretty much flush with her eyes. They will bring her forehead forward. Below is some information for those that are interested that gives more detail into some of what we have discussed here. If you have any questions please feel free to comment and we will answer them the best we can.


Craniosynostosis
Craniosynostosis is a term that refers to the early closing of one or more of the sutures of an infant's head. The skull is normally composed of bones which are separated by sutures. This diagram shows the different sutures which can be involved.
As an infant's brain grows, open sutures allow the skull to expand and develop a relatively normal head shape. If one or more of the sutures has closed early, it causes the skull to expand in the direction of the open sutures. This can result in an abnormal head shape. In severe cases, this condition can also cause increased pressure on the growing brain.
Types of Craniosynostosis
In sagittal synostosis (scaphocephaly), the sagittal suture is closed. As a result, the infant's head does not expand in width but grows long and narrow to accommodate the growing brain. The sagittal suture is the most common single suture involved in craniosynostosis. The incidence of sagittal synostosis in the population is approximately 1 in 4200 births. Males are affected about three times as often as females.
When the metopic suture is closed, this condition is called metopic synostosis. You may also hear the term trigonocephaly used to describe your child's head shape. The deformity can vary from mild to severe. There is usually a ridge down the forehead that can be seen or felt and the eyebrows may appear "pinched" on either side. The eyes may also appear close together.
The coronal suture goes from ear to ear on the top of the head. Early closure of one side, unilateral coronal synostosis (plagiocephaly) results in the forehead and orbital rim (eyebrow) having a flattened appearance on that side. This gives a "winking" effect. These features may also be more apparent when looking at the child in the mirror.
(This is what Sarah has) Both sides are fused in bicoronal synostosis (brachycephaly). In these cases, the child may have a very flat, recessed forehead. This suture fusion is most often found in Crouzon's, Saethre-Chotzen and Apert's Syndromes.
How is Craniosynostosis diagnosed?
· There are several clues that may have caused you or your doctor to suspect that your child has craniosynostosis. A misshapen head is usually the first clue. The anterior fontanelle, or soft spot, may or may not be open. The suspected diagnosis is confirmed by x-rays. A CT scan is also done to make sure there are no underlying abnormalities in the brain


Craniosynostosis Repair is surgery to fix damage caused by a birth defect that makes the bones in a child’s skull grow together too early.
Alternative Names
Craniectomy; Synostectomy; Strip craniectomy; Endoscopy-assisted craniectomy; Sagittal craniectomy; Frontal-orbital advancement; FOA
Description
A baby's head, or skull, is made up of many different bones. The connections between these bones are called sutures. When a baby is born, it is normal for these sutures to be open a little. This gives the baby’s brain and head room to grow.
Your baby was born with craniosynostosis, a condition that caused 1 or more of your baby’s sutures to close too early. This can cause the shape of your baby’s head to be different than normal. Sometimes it can cause brain damage.
An x-ray or computed tomography (CT scan) can be used to diagnose craniosynostosis. Surgery is usually needed to correct it. This surgery is performed in the operating room under general anesthesia (your child will be asleep and will not feel pain).
Traditional surgery is called open repair. It includes these steps:
The most common place for an incision (a cut made during surgery) to be made is over the top of the head, from just above 1 ear to just above the other ear. The incision is usually wavy. The exact placement of the incision may be different for different problems.
A flap of skin, tissue and muscle below the skin, and the tissue covering the bone are loosened and raised up so the surgeon can see the bone.
A strip of bone is usually removed where 2 sutures connect. This is called a strip craniectomy. Sometimes, larger pieces of bone must also be removed. This is called synostectomy. Parts of these bones may be changed or reshaped while they are outside of the skull and then put back in. Other times, they are removed and not put back in.
Sometimes, bones that are left in place need to be shifted or moved.
Bones are then put into place using a plate with screws that go into the skull.
Surgery usually takes 3 to 7 hours. Your child will probably need to have a blood transfusion during or after surgery to replace blood that is lost during the surgery.
Why The Procedure Is Performed
Surgery frees the sutures that are fused. It also reshapes the brow, eye sockets, and skull as needed. The goals of surgery are:
To relieve any pressure on the child’s brain
To make sure there is enough room in the skull to allow the brain to properly grow
To improve the appearance of the child's head
Risks
Risks for any surgery are:
Breathing problems
Infection, including in the lungs, urinary tract, and chest
Blood loss (children having an open repair may need a transfusion)
Reactions to medicines
Possible risks of having this surgery are:
Infection in the brain
Brain swelling
Damage to brain tissue
After The Procedure
After the open surgery, your child will be taken to an intensive care unit (ICU). After 1 or 2 days, your child will be moved to a regular hospital room. Your child will stay in the hospital for 3 to 7 days.
Your child will have a large bandage wrapped around their head. They will also have an IV (a tube that goes into their vein). The nurses will watch your child closely.
Tests will be done to see if your child lost too much blood during surgery. The doctor may give your child blood through a transfusion if they need it.
Your child will have swelling and bruising around their eyes and face. Sometimes, their eyes may be swollen shut. This often gets worse in the first 3 days after surgery, but it will be better by day 7.
Your child should stay in bed for the first few days. The nurses will keep the head of your child’s bed raised to help keep down swelling.
Talking and singing to the child, and playing music and telling stories, may help soothe them. Acetaminophen (Tylenol) is used for pain, but your nurse will have other pain medicines if your child needs them.
Most children who have endoscopic surgery can go home after staying in the hospital 1 night.
Outlook (Prognosis)
Most times, craniosynostosis repair is successful and allows your child’s skull and brain to develop normally.

Monday, February 7, 2011

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