So it has been 3, almost 4 months since my last update. Life in the Ence household has been beyond crazy!! For one, we moved, Bentlee started physical therepy sessions at home, She turned one, Race started 3rd grade, which he loves! His favorite part is being able to ride the bus in the mornings and home after school. His teacher, Mrs. Twitchell has even said he is one of the best readers in the class! He is doing awesome! And course, Gooseberry! DJ and I felt very fortunate and grateful to be able to spend the evening at Gooseberry with him, and being able to relive the memories of our own childhood. I told DJ that it was soo much funner going to Gooseberry as a parent than it was asther a third grader. It was soo fun seeing the reactions of 'Annie Bangs' and being able to hear the story of her after many years.She is still as scary as ever!! :) Being able to share the memory with Race is something that we will never forget. We loved it, he is such a great kid. Race is also loving scouts, reading stories to his sister, watching movies with her, and of course being a boy! He is turning 9 in November!! Happy Birthday bud!
And this is the part where I am going to apologize in advance for my grammar, and punctuation. Improper use of grammar and punctuation is my BiGGEST pet peeve! But, please understand that the rest of this post is going to be typing as I think,and those things are not going to be my priority.
The last post I made was right after we had come home from from PCMC back in June. I cannot begin to tell you how well Bentlee has been doing since coming home. The doctors got her diet figured out, and she has really been doing well since getting home.
Bentlee is now 14 months old, weighs a little bit over 15 pounds, and is 26 inches tall. She has an AWESOME physical therapist who is sincerely dedicated to helping her, and who I really believe has helped her progress like she has. His name is Kelly and he is really great.
Yesterday, (10/23/12) Bentlee had a sedated Echo done. This was her third one. The last one she had was 5 months ago and during that one they discovered that he SVAS was peaking at 44%. Yesterday, the echo was showing that it was now peaking at 64%. A 20% increase in 5 months, which is pretty rapid for such a tiny girl. The Cardioligists said that if everyone was based off of a number that, the number in which the open heart is required is 70%. So Bentlee is very closely knocking on the door. Right now, the Cardioligist feel like the symptoms which I notice throughout the day are not consistent enough to justify doing the surgery immediatly. The doctors admit to dragging their feet as much as possible because the older the child gets, the easier and more effecient the surgery goes.
We have some really great cardioligists, which I do not doubt one bit. Although the open heart surgery is extremely invasive, we are told that the success rate is through the roof. During our consultations the doctors have explained the best they can how the procedure will happen. Obviously Bentlee with be put to sleep, the incision on the chest and breast plate will be made, and then the heart bypass machine will be put into place. For those of you who are unsure what the bypass machine does I will explain the best I can. Bentlee's heart will actually be stopped, and taken out, therefore making it much easier and more effiecient for the doctors to repair the valves in the heart. The bypass machine will make it so Bentlee will be able to function without her heart pumping. Pretty scary!
We are being told that the actually surgery can last up to 8 hours. The recovery can be anywhere from 6 to 14 days in the hospital. DJ and I know our little girl is so strong, and such a fighter that it wont be 14 days, but obviously that is what we have to prepare oursleves for.
We cant begin to express how grateful we are to everyone and all of the amazing thoughts and comments we have recieved. It may not seem like much to you, but these things really mean so much to us, and they really do keep us going on with a positive attitude. So thank you!
We dont have an actual date for the surgery yet, all we know is it will most likely be within the next 2-3 months. DJ and I really do appreciate all of your kind thoughts,and words of encourgment for our baby girl. She truly is a fighter, and the positive encouragment helps to remind DJ and I just how lucky we are to have her.
Again, our family thanks everyone sincerely. I speak for all of us when I say we dont always have the time to reply to each of your calls, texts, and emails. We really are appreciative and will always try and keep everyone updated as we can.
DJ and I, as well as our family appreciates all of you and your kind word. Thank you so much!
- Kadie
Thursday, October 25, 2012
Wednesday, July 4, 2012
Life with the most special girl begins
As a parent the last thing you want to hear is that something is wrong with your child. Unfortunatly, that was just the case for D.J and I. While I was pregnant with Bentlee I had several problems and a few red flags of her having down syndrome. We went through all the testings and weekly ultrasounds and confirmed that Bentlee was NOT down syndrome. This came as such a relief, after being put through all the physical and emotional stress, on top of being pregnant!
On August 22, 2011, Bentlee NicKelle Ence was born at 9:28 p.m. The petite angel was 18 inches long and weighed a mere 4 pounds 12 ounces. She was unbelievably perfect, and a fighter! Although she was tiny, she proved to be extremely strong and healthy! D.J and I could not have been happier. We created and brought this angel into the world! She was one in a thousand for us, litte did we know she really was one in a thousand for everyone that would know our sweet Bentlee.
Because of Bentlee's birth weight, we always felt like we were playing 'catch up' with her. She was a couple weeks early and that is all we contributed her petite birth weight too. As an infant she never took a full on interest to feedings, finishing a 4 ounce bottle in matter of 6-7 hours. Never thought anything about it, because I obviously didnt know any different! I had taken Bentlee (always B for short) in for her 6 month well child check. At this appointment she weighed nearly 9 pounds (yes, 9 pounds) and I remember having a gut ache thinking, "ohh my baby is getting too big! 9 pounds?" It was at this check that our amazing Dr. Brown noticed a heart murmur, that he had never heard before. We were immediatly reffered to a Primary Childrens cariology clinic where she was to have an ecocardiogram of her heart done.
In all honesty, we went in to the cardiology appointment thinking that it was nothing, just something that a lot of children had as infants, and were soon to grow out of. Unfortunatly, the appointment did not go as we had planned. We learned that the large blood vessel that carries blood from the heart to the rest of the body (Arota) was narrowed/ing. (referred to as Stenosis) The condition is called Supravalvular Aortic Stenosis (SVAS). SVAS is a condition that occurs in 1 in 20,000 infants worldwide. Believe me yet when I say she truely is one in thousands! :) Well, the SVAS diagnosis opened a whole new bag of problems that needed to be addressed. This was not somthing that was going to be grown out of, and just 'go away'.
Shortly after this, B was at Primary Childrens to have a sedated ecocardiogram done, to get a more detailed look of the heart. For those of you who have not had to have an ecocardiogram done on an infant, the only way to describe it is a fight! She was under anesthsia for this eco, therefore making the results nothing but accurate. Unfortuantly, once again, the results were not what we were expecting. Everything was just the same as the previous eco D.J. and I sat there and stared at each other having no clue what was next.
We met with a team of geneticists who analyzed her more, and ordered some blood work. The conclusion they came to after spending time with B and reading into her lab work was that she was 'unofficially' Williams Syndrome(WS). We were upset to hear that our insurance would not cover the one blood test (FISH test) to give us a definate diagnosis. The FISH test was nearly $800 dollars, for a small vile of blood! It was obviously something that we could not have done immediatly, so we were left with the unknown until we could afford the blood work. Sure, the doctors had said to expect her as a WS child, but we just felt there could be no way. This couldn't happen to us, and our perfect baby.
Williams Syndrome is caused by a deletion of about 26 genes from the long arm of chromosome 7. aka- half of the 7th chromosome is missing. :) This disorder results in physical and developmental delays. Not only does WS effect the heart, it has a whole basket full of health problems that follow right along with it. WS children have learning disabilities, and need special intervention as infants, and specials needs as they go throughout school. They are also characterized as being extremely friendly, loving, and endearing to everyone they meet. Children with WS have an affinity for music, something I have noticed with B.She loves classical music, and bagpipes.
On June 13, 2012, B landed in the ER here at home. It had been nearly 6 days since she had eaten anything solid, she was taking less formula, having less diapers of either sort, and was just extremely irritable. She had been weighed the Thursday before, and by this time she was down 1/2 pound. Like she has so much to loose anyways. The emergency room doctor was completely stumped as to what could be wrong with our baby. He had never even heard of Williams Syndrome. But really, who has? Her blood work had come back with some extremely high levels, the most concerning was the calcium. Normal range of calcium should be around 3, and Bentlee's was 18. After the ER doctor had spoken with her doctors at Primary Childrens (PCMC), they decided it was best if Bentlee be transported there to get the help she needed.
They called for an ambulance, and as a mother, panic sets in! There was no way of talking them out of it either! D.J. and I had about 45 minutes from the time the ambulance was paged to the time it would arrive at the hosptial for transport to throw a few things in a bag, and get our wits together. You can imagine, we were both a mess! We ran home, threw an OVERNIGHT bag together, and headed back to the hospital. Only one parent was allowed to ride in the ambulance, so I rode while he followed in the truck.
As for the ambulance expirience! Let me just say, WORST and LONGEST ride of my life! Bentlee was fine, slept the whole way. Mom on the other hand, car sick in the trash can, not to mention a broken back from the fine accomadations the ambulance has to offer! :)
Anyways! We arrived at PCMC emergency room at about 10 pm. And we waited. And waited. Then waited some more! It wasnt till about 2 am that they were finally able to get us all squared away and put into a room. Once we were in the room it took another hour and a half to get Bentlee stable. The night was very long for all of us! They started running lasix through her iv, in hopes of flushing the calcium out of her system. After 3 rounds of them, the levels were still high, and her kidneys and bones were now at risk. She had an ultrasound of her kidneys done and it showed that there was calcium building up in them.
The team of doctors decided to take a new approach. The decision was made to start her on Pamidronate. This is the medicine that is used to treat women with osteoporosis. It basically rids the body of calcium, but prevents it from sluffing off the bones. It has some yucky side effects that worried us, she did awesome! The infusion takes 8 hours to finish, and then she was to be monitored for 48 hours after it had finished. Everyone was really confident that this would kick butt and she would be feeling much better. In the hours after the infusion was complete, the levels still had not budged.
We were very discouraged by this news. We had already been there for 4 days, and it didnt look too promising that we would be leaving anytime soon. It was decided that another round of Pamidronate would be given to her, at a stronger dose. 8 hours later and into the 48 hour monitoring the levels had come down! Best news we had gotten in awhile. They were still quite high, too high to go home yet, so ther we waited.
After a week, we were finally able to go home! It was hard to tell who was more excited to get home, her or us! We have been home for almost 2 weeks now, and life has changed so much already. B is on SUCH a strict diet. She is now on a special formula called PM 60/40 that is not avaliable anywhere except online. To her formula we have to add polycose for extra calories. As far as eating solids, there is hardly anything she can eat. She is not much of an eater to begin with so this makes it even harder to find something she likes. We are all getting it figured out, and learning to be more away of just what exactly is in the foods we eat daily.
While at PCMC we were able to have the FISH test done. The results of that did show the deletion in the 7th chromosome, confirming WS.
Having Bentlee is truely a blessing, and we cannot begin to explain the joy she has brought into our family. She is one in 10,000, and we were the lucky ones to get her! She has such a magnetic effect on everyone that see's her. People are drawn to her and she is drawn to them. She is so amazing.
Bentlee loves to play toys with her big brother and puppy. She loves to talk and smile! She will cuss you when you make her mad, and snuggle you when she's happy. She definatly has attitude! Her favorite thing to do is watch the leaves on tree's, and listen to the birds. She is trying to figure out how to crawl, I keep thinking it could happen any minute. I'm afraid when it does we will be in trouble! She already rolls all over the house.
We love our baby so much and are so thankful to have her. We have the best family and friends that give us nothing but love and support, and we thank everyone for that. We have a busy month ahead of doctors appointments, so I will try and keep this as updated as I can!
On August 22, 2011, Bentlee NicKelle Ence was born at 9:28 p.m. The petite angel was 18 inches long and weighed a mere 4 pounds 12 ounces. She was unbelievably perfect, and a fighter! Although she was tiny, she proved to be extremely strong and healthy! D.J and I could not have been happier. We created and brought this angel into the world! She was one in a thousand for us, litte did we know she really was one in a thousand for everyone that would know our sweet Bentlee.
Because of Bentlee's birth weight, we always felt like we were playing 'catch up' with her. She was a couple weeks early and that is all we contributed her petite birth weight too. As an infant she never took a full on interest to feedings, finishing a 4 ounce bottle in matter of 6-7 hours. Never thought anything about it, because I obviously didnt know any different! I had taken Bentlee (always B for short) in for her 6 month well child check. At this appointment she weighed nearly 9 pounds (yes, 9 pounds) and I remember having a gut ache thinking, "ohh my baby is getting too big! 9 pounds?" It was at this check that our amazing Dr. Brown noticed a heart murmur, that he had never heard before. We were immediatly reffered to a Primary Childrens cariology clinic where she was to have an ecocardiogram of her heart done.
In all honesty, we went in to the cardiology appointment thinking that it was nothing, just something that a lot of children had as infants, and were soon to grow out of. Unfortunatly, the appointment did not go as we had planned. We learned that the large blood vessel that carries blood from the heart to the rest of the body (Arota) was narrowed/ing. (referred to as Stenosis) The condition is called Supravalvular Aortic Stenosis (SVAS). SVAS is a condition that occurs in 1 in 20,000 infants worldwide. Believe me yet when I say she truely is one in thousands! :) Well, the SVAS diagnosis opened a whole new bag of problems that needed to be addressed. This was not somthing that was going to be grown out of, and just 'go away'.
Shortly after this, B was at Primary Childrens to have a sedated ecocardiogram done, to get a more detailed look of the heart. For those of you who have not had to have an ecocardiogram done on an infant, the only way to describe it is a fight! She was under anesthsia for this eco, therefore making the results nothing but accurate. Unfortuantly, once again, the results were not what we were expecting. Everything was just the same as the previous eco D.J. and I sat there and stared at each other having no clue what was next.
We met with a team of geneticists who analyzed her more, and ordered some blood work. The conclusion they came to after spending time with B and reading into her lab work was that she was 'unofficially' Williams Syndrome(WS). We were upset to hear that our insurance would not cover the one blood test (FISH test) to give us a definate diagnosis. The FISH test was nearly $800 dollars, for a small vile of blood! It was obviously something that we could not have done immediatly, so we were left with the unknown until we could afford the blood work. Sure, the doctors had said to expect her as a WS child, but we just felt there could be no way. This couldn't happen to us, and our perfect baby.
Williams Syndrome is caused by a deletion of about 26 genes from the long arm of chromosome 7. aka- half of the 7th chromosome is missing. :) This disorder results in physical and developmental delays. Not only does WS effect the heart, it has a whole basket full of health problems that follow right along with it. WS children have learning disabilities, and need special intervention as infants, and specials needs as they go throughout school. They are also characterized as being extremely friendly, loving, and endearing to everyone they meet. Children with WS have an affinity for music, something I have noticed with B.She loves classical music, and bagpipes.
On June 13, 2012, B landed in the ER here at home. It had been nearly 6 days since she had eaten anything solid, she was taking less formula, having less diapers of either sort, and was just extremely irritable. She had been weighed the Thursday before, and by this time she was down 1/2 pound. Like she has so much to loose anyways. The emergency room doctor was completely stumped as to what could be wrong with our baby. He had never even heard of Williams Syndrome. But really, who has? Her blood work had come back with some extremely high levels, the most concerning was the calcium. Normal range of calcium should be around 3, and Bentlee's was 18. After the ER doctor had spoken with her doctors at Primary Childrens (PCMC), they decided it was best if Bentlee be transported there to get the help she needed.
They called for an ambulance, and as a mother, panic sets in! There was no way of talking them out of it either! D.J. and I had about 45 minutes from the time the ambulance was paged to the time it would arrive at the hosptial for transport to throw a few things in a bag, and get our wits together. You can imagine, we were both a mess! We ran home, threw an OVERNIGHT bag together, and headed back to the hospital. Only one parent was allowed to ride in the ambulance, so I rode while he followed in the truck.
As for the ambulance expirience! Let me just say, WORST and LONGEST ride of my life! Bentlee was fine, slept the whole way. Mom on the other hand, car sick in the trash can, not to mention a broken back from the fine accomadations the ambulance has to offer! :)
Anyways! We arrived at PCMC emergency room at about 10 pm. And we waited. And waited. Then waited some more! It wasnt till about 2 am that they were finally able to get us all squared away and put into a room. Once we were in the room it took another hour and a half to get Bentlee stable. The night was very long for all of us! They started running lasix through her iv, in hopes of flushing the calcium out of her system. After 3 rounds of them, the levels were still high, and her kidneys and bones were now at risk. She had an ultrasound of her kidneys done and it showed that there was calcium building up in them.
The team of doctors decided to take a new approach. The decision was made to start her on Pamidronate. This is the medicine that is used to treat women with osteoporosis. It basically rids the body of calcium, but prevents it from sluffing off the bones. It has some yucky side effects that worried us, she did awesome! The infusion takes 8 hours to finish, and then she was to be monitored for 48 hours after it had finished. Everyone was really confident that this would kick butt and she would be feeling much better. In the hours after the infusion was complete, the levels still had not budged.
We were very discouraged by this news. We had already been there for 4 days, and it didnt look too promising that we would be leaving anytime soon. It was decided that another round of Pamidronate would be given to her, at a stronger dose. 8 hours later and into the 48 hour monitoring the levels had come down! Best news we had gotten in awhile. They were still quite high, too high to go home yet, so ther we waited.
After a week, we were finally able to go home! It was hard to tell who was more excited to get home, her or us! We have been home for almost 2 weeks now, and life has changed so much already. B is on SUCH a strict diet. She is now on a special formula called PM 60/40 that is not avaliable anywhere except online. To her formula we have to add polycose for extra calories. As far as eating solids, there is hardly anything she can eat. She is not much of an eater to begin with so this makes it even harder to find something she likes. We are all getting it figured out, and learning to be more away of just what exactly is in the foods we eat daily.
While at PCMC we were able to have the FISH test done. The results of that did show the deletion in the 7th chromosome, confirming WS.
Having Bentlee is truely a blessing, and we cannot begin to explain the joy she has brought into our family. She is one in 10,000, and we were the lucky ones to get her! She has such a magnetic effect on everyone that see's her. People are drawn to her and she is drawn to them. She is so amazing.
Bentlee loves to play toys with her big brother and puppy. She loves to talk and smile! She will cuss you when you make her mad, and snuggle you when she's happy. She definatly has attitude! Her favorite thing to do is watch the leaves on tree's, and listen to the birds. She is trying to figure out how to crawl, I keep thinking it could happen any minute. I'm afraid when it does we will be in trouble! She already rolls all over the house.
We love our baby so much and are so thankful to have her. We have the best family and friends that give us nothing but love and support, and we thank everyone for that. We have a busy month ahead of doctors appointments, so I will try and keep this as updated as I can!
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