Clare had her appointment with the geneticist today. His role in this whole process is similar to an overseer or coordinator of care. The geneticist follows suggested medical guidelines for children with Williams. He makes sure Clare is being taken care of according to those guidelines. Her other doctors are focused on a particular area, so the geneticist brings these separate areas together to assemble a complete picture of Clare and the manifestation of WS in her. His main words today - "Kudos to Mom & Dad."
This is our bragging post! We are doing a great job with Clare. Even though there are some very tough moments where I doubt my abilities, somewhere deep inside, I really do know that we're doing a great job with Clare. I don't mean to sound all righteous, but I do feel that Shawn and I have coped very well with Clare's multiple diagnoses and managing her care. It showed to the geneticist that we're on top of things, and he was impressed and encouraged with Clare's progress. We were able to answer every question he asked. We've taken care of getting Clare checked out by the necessary doctors, and, other than continuing on our present course of treatment (especially with her heart), there is nothing new we need to be doing for Clare right now.
And good news about Clare's tests results from her endocrine lab work a couple weeks ago - her thyroid levels are only very slightly out-of-range (the endocrinologist feels this is still her body working out the too-high dosage of 12+ weeks), so she's finally on the right dose. Her calcium levels were within range, so she is not hypercalcemia, which means I can continue breastfeeding exclusively and not supplement with any low-calcium formula. Yeah! It's so nice to hear good news for once!
Monday, August 29, 2005
Monday, August 22, 2005
Another Echo & Rescheduled Catheterization
Clare had her echo and cardiology appointment on Friday. Sorry for not updating sooner, but it was a busy weekend! Shawn came home from Seattle on Saturday, so the whole family was excited to have Daddy back.
I am starting to really hate echos. They always spell bad news. At least right now they do. Clare's heart is worse than it was pre-cath. The narrowing in her pulmonary arteries has worsened, and the narrowing in her aorta has worsened even more. To the point where the cardiologist does not feel it is safe to wait 6 weeks for another cath (her second cath was scheduled for October 7). It is very important to get the pressures down on the right side of her heart, so Clare needs some more dilating on her pulmonary side ASAP.
To some degree, this was to be expected. It is the nature of Williams Syndrome that this narrowing continues to happen. It just seems to be happening very fast in Clare. There is only so much the doctors can do during the cath because of the dye contrast used on her little body, and Clare has to wait about 8 weeks between caths because of the dye contrast coming out of her system. But she needs these caths faster than they can do them. It seems like Clare may have a cath every 8 weeks, if her heart continues at this rate. And, once again, open heart surgery looms in the near future.
Needless to say, Shawn and I are upset by this news. We knew she was having more caths in the future, and her second cath is only going to be 3 weeks sooner than anticipated, but it's the continual shock that is more upsetting. Her first cath was scheduled under these same circumstances. With this second cath, we were more relaxed because Clare showed improvement post-cath so she was essentially healthier, we knew the cath was coming, it was scheduled 3 months in advance, and we had plenty of time to make arrangements for our stay and Jamie's care during those 3 days in Boston. Now it's a big BOOM again - we're getting to another critical point with Clare's heart which makes the cath that much scarier, the cath is sooner than expected, we are scrambling to make all new arrangements, and everyone is a little on edge (okay, some days, we're A LOT on edge).
We know God is watching over Clare and our family. And He does send us peace. Just the fact that it's barely nighttime and the other three members of my family are already sleeping is peaceful!
I am starting to really hate echos. They always spell bad news. At least right now they do. Clare's heart is worse than it was pre-cath. The narrowing in her pulmonary arteries has worsened, and the narrowing in her aorta has worsened even more. To the point where the cardiologist does not feel it is safe to wait 6 weeks for another cath (her second cath was scheduled for October 7). It is very important to get the pressures down on the right side of her heart, so Clare needs some more dilating on her pulmonary side ASAP.
To some degree, this was to be expected. It is the nature of Williams Syndrome that this narrowing continues to happen. It just seems to be happening very fast in Clare. There is only so much the doctors can do during the cath because of the dye contrast used on her little body, and Clare has to wait about 8 weeks between caths because of the dye contrast coming out of her system. But she needs these caths faster than they can do them. It seems like Clare may have a cath every 8 weeks, if her heart continues at this rate. And, once again, open heart surgery looms in the near future.
Needless to say, Shawn and I are upset by this news. We knew she was having more caths in the future, and her second cath is only going to be 3 weeks sooner than anticipated, but it's the continual shock that is more upsetting. Her first cath was scheduled under these same circumstances. With this second cath, we were more relaxed because Clare showed improvement post-cath so she was essentially healthier, we knew the cath was coming, it was scheduled 3 months in advance, and we had plenty of time to make arrangements for our stay and Jamie's care during those 3 days in Boston. Now it's a big BOOM again - we're getting to another critical point with Clare's heart which makes the cath that much scarier, the cath is sooner than expected, we are scrambling to make all new arrangements, and everyone is a little on edge (okay, some days, we're A LOT on edge).
We know God is watching over Clare and our family. And He does send us peace. Just the fact that it's barely nighttime and the other three members of my family are already sleeping is peaceful!
Thursday, August 18, 2005
A Hard Day
Today was a hard day. In retrospect at the (almost) end of the day, it was just an eye exam, doctor's appointment, and blood work. But add to it that the patient was 4 1/2 months old, her 2 1/2 year old brother was dragged along, and they were in the company of a very tired Mommy who hasn't seen her husband in 5 days, makes for a very long day!
Clare saw the pediatric opthamalogist for the first time today. It was a long exam for Clare. The good news is that Clare's eyes look great - no signs of strabismus (common with WS) or any other eye disease. Her vision is great! Clare will follow-up annually with her opthamalogist unless a problem is noted otherwise. The bad part of the exam was that she had her eyes dilated (hated the four sets of eye drops that were put in). Then the doctor had to insert a lid speculum onto each eye so Clare's eyes would remain open during the exam. Thankfully (and I am selfishly grateful for this!), I was holding Clare so I didn't actually see the speculum on her eyes and the room was dark for most of the exam. But I know Clare didn't like it. The poor baby cried nonstop during the exam.
Then we were off to the endocrinologist. Because there have been some bumps in the road with Clare's thyroid medication, we saw a new endocrinologist today. Not because we didn't like the old one, but because the new doctor has more available office hours at our clinic, so it was easier to get Clare in right away. So we went through the initial paperwork again, and I had to fill the new doctor in on Clare's history. I like the new doctor - he was great with Clare and very thorough. He said she looks great from an endocrine standpoint and just wanted to check her thyroid and calcium levels. If the tests come back normal, then we don't have to see him for another four months. He does want blood work done every 6 weeks to monitor her levels. Fortunately, the next blood work coincides with her catheterization, so she can have that done in the hospital. The blood work was the last straw for Clare today. She was already wiped out by the time we saw the endocrinologist and was not in any mood to be examined by another doctor. Then, to add injury to insult, she had blood drawn from both arms since the phlebotomist could not get enough blood out of her first arm to do all the tests (Clare apparently has rolling veins). There was a point in the blood draw, where I told phlebotomist that if she didn't get her blood soon, I was calling it a day. Clare was extremely worked up - the worst I've ever seen and I admit I was getting on edge over it. But it was over soon, the necessary blood was taken, and I was able to nurse Clare into a peaceful sleep. I have to say again that she is such a trooper. She goes through so much, yet she can still smile at me after all this was done while she nursed.
Jamie was also a trooper during this whole day. We had a couple almost-meltdown moments. It's a long day for an energetic little boy, confined in tiny exam rooms. He was particularly upset when Clare was having her blood drawn. I think Clare's crying upset him. I explained to him that she would cry and why it was happening, but it was a lot to take. Since it took two phlebotomists to draw the blood and I was keeping Clare confined, Jamie had to stand against a wall on the other side of the room, so he wouldn't be in the way. He did not like this arrangement and there was much verbal protest from the other side of the room, but he listened and stood where he was asked. This was a day when I was blessing the Jelly Belly people - and the inventor of stickers!
So it was a hard day. I admit that at the end of a day like today, I feel like crying. Some days, I indulge myself and do cry. Today I didn't. Probably because both kids are sleeping now, I talked to Shawn on the phone who commiserated with me, and I am getting ready to take a nap myself. When I look back, I think, "It wasn't so bad. It could have been worse." Ask me how I feel tomorrow after another long day at the doctor's for Clare's echo and cardiology appointment! Luckily, at the end of tomorrow, I will have the loving support of my parents and sisters to turn to and my dad's hot tub to sink into.
Clare saw the pediatric opthamalogist for the first time today. It was a long exam for Clare. The good news is that Clare's eyes look great - no signs of strabismus (common with WS) or any other eye disease. Her vision is great! Clare will follow-up annually with her opthamalogist unless a problem is noted otherwise. The bad part of the exam was that she had her eyes dilated (hated the four sets of eye drops that were put in). Then the doctor had to insert a lid speculum onto each eye so Clare's eyes would remain open during the exam. Thankfully (and I am selfishly grateful for this!), I was holding Clare so I didn't actually see the speculum on her eyes and the room was dark for most of the exam. But I know Clare didn't like it. The poor baby cried nonstop during the exam.
Then we were off to the endocrinologist. Because there have been some bumps in the road with Clare's thyroid medication, we saw a new endocrinologist today. Not because we didn't like the old one, but because the new doctor has more available office hours at our clinic, so it was easier to get Clare in right away. So we went through the initial paperwork again, and I had to fill the new doctor in on Clare's history. I like the new doctor - he was great with Clare and very thorough. He said she looks great from an endocrine standpoint and just wanted to check her thyroid and calcium levels. If the tests come back normal, then we don't have to see him for another four months. He does want blood work done every 6 weeks to monitor her levels. Fortunately, the next blood work coincides with her catheterization, so she can have that done in the hospital. The blood work was the last straw for Clare today. She was already wiped out by the time we saw the endocrinologist and was not in any mood to be examined by another doctor. Then, to add injury to insult, she had blood drawn from both arms since the phlebotomist could not get enough blood out of her first arm to do all the tests (Clare apparently has rolling veins). There was a point in the blood draw, where I told phlebotomist that if she didn't get her blood soon, I was calling it a day. Clare was extremely worked up - the worst I've ever seen and I admit I was getting on edge over it. But it was over soon, the necessary blood was taken, and I was able to nurse Clare into a peaceful sleep. I have to say again that she is such a trooper. She goes through so much, yet she can still smile at me after all this was done while she nursed.
Jamie was also a trooper during this whole day. We had a couple almost-meltdown moments. It's a long day for an energetic little boy, confined in tiny exam rooms. He was particularly upset when Clare was having her blood drawn. I think Clare's crying upset him. I explained to him that she would cry and why it was happening, but it was a lot to take. Since it took two phlebotomists to draw the blood and I was keeping Clare confined, Jamie had to stand against a wall on the other side of the room, so he wouldn't be in the way. He did not like this arrangement and there was much verbal protest from the other side of the room, but he listened and stood where he was asked. This was a day when I was blessing the Jelly Belly people - and the inventor of stickers!
So it was a hard day. I admit that at the end of a day like today, I feel like crying. Some days, I indulge myself and do cry. Today I didn't. Probably because both kids are sleeping now, I talked to Shawn on the phone who commiserated with me, and I am getting ready to take a nap myself. When I look back, I think, "It wasn't so bad. It could have been worse." Ask me how I feel tomorrow after another long day at the doctor's for Clare's echo and cardiology appointment! Luckily, at the end of tomorrow, I will have the loving support of my parents and sisters to turn to and my dad's hot tub to sink into.
Sunday, August 14, 2005
She Rolls Again
Clare continues to impress us! This afternoon she rolled from her back to her stomach. We thought it would be a couple more weeks before she was able to do this. She has been rolling onto her side and working on getting all the way over, but that last flip is very hard. Her therapist warned us that she may have a lot of trouble getting that last step because of her low muscle tone. But Clare proved us all wrong! Good girl! I think she was as surprised as the rest of us that she did it. She had a stunned look on her face like, "What did I just do?" Now that she knows she can roll, she has been trying all afternoon to do it again. I am constantly amazed how Clare does not give up. She doesn't know she's challenged and not supposed to be able to roll so soon! And that's just wonderful!
Saturday, August 13, 2005
She Rolls!
Clare made a big step today... or should we say, roll! She rolled! She rolled from her tummy to her back towards the left side. This is very exciting for two reasons:
1 - She rolled! (Can you tell we're excited??) Just the fact that Clare rolled on her own is a big milestone. We are unsure how delayed she is going to be, but right now, she is still on track. So, a big HOORAY for Clare!
2 - She rolled using her left arm. Her left side is weaker than her right, so it is great that she has enough strength in her left to force herself over.
We marveled over every milestone that Jamie accomplished as a baby and, before Clare was born, couldn't help but wonder if we would be as excited over our second child's milestones. We soon learned that you are! Even if Clare was not a special needs child, we would marvel at her strength and determination. She is such a hard worker already. You can see the strain on her face as she works on this. We are so proud of our baby girl! Keep on rolling!
1 - She rolled! (Can you tell we're excited??) Just the fact that Clare rolled on her own is a big milestone. We are unsure how delayed she is going to be, but right now, she is still on track. So, a big HOORAY for Clare!
2 - She rolled using her left arm. Her left side is weaker than her right, so it is great that she has enough strength in her left to force herself over.
We marveled over every milestone that Jamie accomplished as a baby and, before Clare was born, couldn't help but wonder if we would be as excited over our second child's milestones. We soon learned that you are! Even if Clare was not a special needs child, we would marvel at her strength and determination. She is such a hard worker already. You can see the strain on her face as she works on this. We are so proud of our baby girl! Keep on rolling!
Doctor's Appointments, Doctor's Appointments
This month Clare has a slew of doctor's appointments. Besides her weekly OT sessions, she has six doctor's appointments. It also happens to be the first month of Shawn's new job, so he was in New Jersey for 2.5 days one week and in Seattle for 6 days another week! Then add onto that Jamie came down with strep throat (high temp of 104.3 - eek!) and seven days after being on amoxycillin, he broke out in hives from head to toe. Turns out he is allergic to amoxycillin, just like his Daddy. The doctor switched his antibiotic, but he was "speckled" for days! So it's been a busy month.
The good thing about all these doctor's appointments is that we're basically getting a review of all Clare's systems. She saw the pediatrician and was updated on her vaccinations. Other than not laughing and squealing, he said she was fairly on-track developmentally for a 4-month old. Then we met her Ears, Nose, & Throat doctor for the first time. He examined her ears, nose, and throat (surprise surprise!) and said everything looked fine. Our main visit for this appointment was to have her tongue examined, since she is tongue-tied. We discussed the option of "releasing" it (a nice to way to say "clipping"). Her ENT doctor is all for releasing her tongue soon, especially since Clare may have speech difficulties due to the Williams. We don't need something else to hinder the process. However, we don't know if Clare will need an antibiotic before having any procedure, so she did not get her tongue released that day. We will follow up in a month after she's seen the cardiologist and release it then, if the cardiologist gives her approval. I want to have it done early because if we wait until Clare is older than she will have to be under general anesthesia to have it released. If we do it in the next couple months, the doctor can just use a local anesthestic. The ENT doctor also wants Clare to have hearing tests every six months, so we scheduled her first one for October. He explained that with some genetic conditions, the hearing can decline as the person gets older.
This coming week is Clare's first visit with the pediatric opthamologist, a new endocrinologist, and her follow-up echo and cardiology appointment. So I will continue this post after we see all those doctors.
Our last visit is at the end of the month with the geneticist. He has not seen Clare since she was diagnosed at 6 weeks old.
The good thing about all these doctor's appointments is that we're basically getting a review of all Clare's systems. She saw the pediatrician and was updated on her vaccinations. Other than not laughing and squealing, he said she was fairly on-track developmentally for a 4-month old. Then we met her Ears, Nose, & Throat doctor for the first time. He examined her ears, nose, and throat (surprise surprise!) and said everything looked fine. Our main visit for this appointment was to have her tongue examined, since she is tongue-tied. We discussed the option of "releasing" it (a nice to way to say "clipping"). Her ENT doctor is all for releasing her tongue soon, especially since Clare may have speech difficulties due to the Williams. We don't need something else to hinder the process. However, we don't know if Clare will need an antibiotic before having any procedure, so she did not get her tongue released that day. We will follow up in a month after she's seen the cardiologist and release it then, if the cardiologist gives her approval. I want to have it done early because if we wait until Clare is older than she will have to be under general anesthesia to have it released. If we do it in the next couple months, the doctor can just use a local anesthestic. The ENT doctor also wants Clare to have hearing tests every six months, so we scheduled her first one for October. He explained that with some genetic conditions, the hearing can decline as the person gets older.
This coming week is Clare's first visit with the pediatric opthamologist, a new endocrinologist, and her follow-up echo and cardiology appointment. So I will continue this post after we see all those doctors.
Our last visit is at the end of the month with the geneticist. He has not seen Clare since she was diagnosed at 6 weeks old.
In God's Graces
S-During Clare's first Cath I mentioned this prayer I read just that day. It was on a pewter cross that Mike & Michelle gave to her on her Baptism. We keep it in our kitchen right above our sink, so I think I was trying to finish up some last minute dishes as I read this and it struck me. This is what it said:
"On the day of Baptism the angels said a prayer that God would always bless you and keep you in his care."
Reading this made me realize that this is all part of God's plan, and there is nothing for us to do except accept it and live through it all the best we can. I have recently started a new job and I just came back from two days of training in New Jersey. The first night of training I was out to dinner with another of the new reps and we were getting to know one another. We got onto the topic of children and I discussed everything that Clare was going through...the guy didn't know what hit him. Anyway, he said to me that it was remarkable how I was handling everything. That made me feel a little uncomfortable, should I be a blubbering mess? Should I be in denial? Should I look at this with all doom and gloom. I told him that this was our life now and we just accept it. There are so many things in our life that we cannot control or change, getting yourself all worked up just leads to undue stress and Gray Hairs (trust me those are coming fast enough on their own). Trust in God, he loves us and he only wants what is best for us. Sometimes we can't understand why he thinks this is best for us, but then sometimes Jamie doesn't understand why he can't have ice cream for dinner. We just have to accept it. By the way, why can't we have ice cream for dinner?
"On the day of Baptism the angels said a prayer that God would always bless you and keep you in his care."
Reading this made me realize that this is all part of God's plan, and there is nothing for us to do except accept it and live through it all the best we can. I have recently started a new job and I just came back from two days of training in New Jersey. The first night of training I was out to dinner with another of the new reps and we were getting to know one another. We got onto the topic of children and I discussed everything that Clare was going through...the guy didn't know what hit him. Anyway, he said to me that it was remarkable how I was handling everything. That made me feel a little uncomfortable, should I be a blubbering mess? Should I be in denial? Should I look at this with all doom and gloom. I told him that this was our life now and we just accept it. There are so many things in our life that we cannot control or change, getting yourself all worked up just leads to undue stress and Gray Hairs (trust me those are coming fast enough on their own). Trust in God, he loves us and he only wants what is best for us. Sometimes we can't understand why he thinks this is best for us, but then sometimes Jamie doesn't understand why he can't have ice cream for dinner. We just have to accept it. By the way, why can't we have ice cream for dinner?
Saturday, August 06, 2005
Another Big Thank You
We want to thank everyone who continues to post comments to our blog. I cannot respond to individual comments on the blog, so I don't want people to think that we aren't reading them or don't care. We see every comment and are touched that so many people care about Clare and are reading about her journey.
So another big thank you!!
So another big thank you!!
Monday, August 01, 2005
Starting Occupational Therapy
Clare started her occupational therapy (OT) today. Jessica, her therapist, came over to the house for the first time. Clare's OT will concentrate on her fine motor skills right now - such as grasping objects with her hands, bringing them to her mouth, etc. Since OT and PT overlap, Jessica is also going to work on helping Clare learn to roll and gain better head control. Once Clare is a little older, she will most likely have an occupational therapist and a physical therapist, but for now, she will do only OT once a week.
We really liked Jessica. She was super-friendly and great with both Clare and Jamie. It's hard for Jamie to not be the center of attention (after all, he is so used to it - with all his adoring aunties, uncle, and grandparents!!), so he often tried to "help out" with the therapy session. Jessica was very patient with him, and we are incorporating Jamie into Clare's therapy so he is included. I was told by a good friend (who has a disabled daughter) that the siblings are sometimes the best therapists because they will push their sibling beyond what the parents will. Jamie doesn't care if Clare is turning away from a toy or starting to fuss - he continues to play with her and get her to play with him. But I am digressing....
Anyway, Jessica commented that Clare has made a lot of progress since her initial evaluation a month ago and was very pleased with what she saw. Clare is doing very well with continuing to develop her skill at grasping objects and bringing her hands together. She is right on track developmentally when it comes to rolling (can get almost all the way from front-to-back and back-to-front), but will most likely have a little trouble with the last step because of the weakness in her left side. She needs more tummy time but that gets a little tough because Clare does not like tummy time since it is very hard for her, and we aren't supposed to let her get too worked up because of her heart. But she needs the tummy time to strengthen her neck muscles and head control and the lifting up on her arms will help increase the strength in her left side. It's a bit of a Catch-22, but we've developed a plan to do a little tummy time many times throughout the day instead of doing a lot all at once. So that's one of our main concentrations right now.
In other news, Clare's second catheterization is scheduled for October 7. It is our understanding that the plan, at this time, is to re-dilate the four pulmonary arteries from the last cath plus dilate some of the smaller ones as well. Clare sees all her doctors this month plus meets a new doctor (her ENT doctor who will most likely clip her tongue-tied next week), so we are eager to hear how everyone thinks she's doing.
Clare continues to do great at home. She is getting back into her sleep pattern again, so Shawn does not have to drive her around every night anymore! It is hard to believe she is already four months old. In some ways, it feels like she has been with us forever, but in other ways, I am constantly reminded of how time flies when your children are growing before your eyes.
We really liked Jessica. She was super-friendly and great with both Clare and Jamie. It's hard for Jamie to not be the center of attention (after all, he is so used to it - with all his adoring aunties, uncle, and grandparents!!), so he often tried to "help out" with the therapy session. Jessica was very patient with him, and we are incorporating Jamie into Clare's therapy so he is included. I was told by a good friend (who has a disabled daughter) that the siblings are sometimes the best therapists because they will push their sibling beyond what the parents will. Jamie doesn't care if Clare is turning away from a toy or starting to fuss - he continues to play with her and get her to play with him. But I am digressing....
Anyway, Jessica commented that Clare has made a lot of progress since her initial evaluation a month ago and was very pleased with what she saw. Clare is doing very well with continuing to develop her skill at grasping objects and bringing her hands together. She is right on track developmentally when it comes to rolling (can get almost all the way from front-to-back and back-to-front), but will most likely have a little trouble with the last step because of the weakness in her left side. She needs more tummy time but that gets a little tough because Clare does not like tummy time since it is very hard for her, and we aren't supposed to let her get too worked up because of her heart. But she needs the tummy time to strengthen her neck muscles and head control and the lifting up on her arms will help increase the strength in her left side. It's a bit of a Catch-22, but we've developed a plan to do a little tummy time many times throughout the day instead of doing a lot all at once. So that's one of our main concentrations right now.
In other news, Clare's second catheterization is scheduled for October 7. It is our understanding that the plan, at this time, is to re-dilate the four pulmonary arteries from the last cath plus dilate some of the smaller ones as well. Clare sees all her doctors this month plus meets a new doctor (her ENT doctor who will most likely clip her tongue-tied next week), so we are eager to hear how everyone thinks she's doing.
Clare continues to do great at home. She is getting back into her sleep pattern again, so Shawn does not have to drive her around every night anymore! It is hard to believe she is already four months old. In some ways, it feels like she has been with us forever, but in other ways, I am constantly reminded of how time flies when your children are growing before your eyes.
Monday, July 25, 2005
WSA Picnic
We attended our first Williams Syndrome Association picnic this past weekend. It was for the New England region. We were very excited to go (especially Jamie - he couldn't wait to go to the "pic-a-nic") and meet other families. And meet them we did! Clare was the youngest child with WS. The oldest "child" was 18 years old, and there was an 82-year old woman whose family is fairly confident that she has WS, even though she has never been officially diagnosed. It was wonderful to see the range of kids from toddlers to teenagers. It really gave us a feeling for what these children are like in all stages of life. Shawn and I were comforted to see that at first glance you would not be able to distinguish the kids with WS from the other kids. They were all acting like kids - which they are!! I think I left the picnic with two very important lessons:
1 - There is a wide range when it comes to WS. There were children there who had absolutely no heart conditions. Then there was a 9-year girl who had her first open heart surgery at 2 days old. There is (obviously) no predicting Clare's future!
2 - The children seemed to be happy, well-adjusted children. I chatted with two of the teenage girls, and they were so sweet. They giggled over their boyfriends like any "normal" teenager and were so open and friendly. I will be happy if Clare turns out like those two girls - very sweet, social girls with the biggest smiles.
We had a great time meeting the other families and talking to parents who are in the trenches with us. We made some good connections and look forward to another event in the future.
1 - There is a wide range when it comes to WS. There were children there who had absolutely no heart conditions. Then there was a 9-year girl who had her first open heart surgery at 2 days old. There is (obviously) no predicting Clare's future!
2 - The children seemed to be happy, well-adjusted children. I chatted with two of the teenage girls, and they were so sweet. They giggled over their boyfriends like any "normal" teenager and were so open and friendly. I will be happy if Clare turns out like those two girls - very sweet, social girls with the biggest smiles.
We had a great time meeting the other families and talking to parents who are in the trenches with us. We made some good connections and look forward to another event in the future.
Friday, July 22, 2005
Summer Fun
I wanted to post some photos of our two sweeties. We are having a great summer when we're not at the doctor's! It has been very hot and humid here, so we spend most evenings on our deck so Jamie can play in his little pool (it is TOO hot during the day to be outside sometimes). Clare loves to watch Jamie (she is enamored with her big brother!) as he jumps and splashes and soaks the deck.
We are getting ready to go to our first Williams Syndrome Association Picnic this weekend. It will be the first time we get to meet other families with children with WS. We have never met another child with WS, so Shawn and I are eager to attend the picnic. It should be a lot of fun!
We are getting ready to go to our first Williams Syndrome Association Picnic this weekend. It will be the first time we get to meet other families with children with WS. We have never met another child with WS, so Shawn and I are eager to attend the picnic. It should be a lot of fun!
Monday, July 18, 2005
What Is Williams Syndrome?
I've had a number of people ask me what exactly is Williams Syndrome. Although we are still learning what Williams Syndrome will mean to Clare, here is a broad "definition."
Williams Syndrome is a rare genetic disorder that was first recognized in 1961. It is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes the protein elastin, which provides strength and elasticity to vessel walls. The heart and blood vessel abnormalities are caused by this lack of elastin (thus explaining Clare's heart defects). Children with WS share similar facial characteristics — a small upturned nose, a starburst pattern on lighter eyes, a wide mouth, and puffiness around the eyes. Clare has these features (and is so cute!).
Other characteristics include sensitive hearing, poor muscle tone, difficulty with eating and sleeping, eye problems, developmental delays, learning difficulties. Thankfully, Clare does not have difficulty eating (she loves to nurse!). She will have her hearing and eyes checked in a couple weeks. She does have poor muscle tone and the sleeping thing is iffy (she is a baby so I am not going to attribute any sleeping habits to WS!). Many also have an affinity for music - we have noticed that Clare quiets down when I play the piano. Clare also has hypothyroidism and borderline hypercalcemia - two conditions often seen in WS.
Williams Syndrome was once thought to occur in one in 20,000 births. New research has determined that it occurs in one in 7,500 births, yet there are fewer than 10,000 diagnosed individuals in the U.S. Many people with WS are undiagnosed or diagnosed at a relatively late age, even with the available genetic screening (FISH test). This is of concern because WS can result in significant and progressive medical problems. We feel blessed that Clare was diagnosed at such a young age so we can stay on top of these problems as they develop.
If you're interested in more information, here are two great websites:
www.williams-syndrome.org
www.wsf.org
Williams Syndrome is a rare genetic disorder that was first recognized in 1961. It is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes the protein elastin, which provides strength and elasticity to vessel walls. The heart and blood vessel abnormalities are caused by this lack of elastin (thus explaining Clare's heart defects). Children with WS share similar facial characteristics — a small upturned nose, a starburst pattern on lighter eyes, a wide mouth, and puffiness around the eyes. Clare has these features (and is so cute!).
Other characteristics include sensitive hearing, poor muscle tone, difficulty with eating and sleeping, eye problems, developmental delays, learning difficulties. Thankfully, Clare does not have difficulty eating (she loves to nurse!). She will have her hearing and eyes checked in a couple weeks. She does have poor muscle tone and the sleeping thing is iffy (she is a baby so I am not going to attribute any sleeping habits to WS!). Many also have an affinity for music - we have noticed that Clare quiets down when I play the piano. Clare also has hypothyroidism and borderline hypercalcemia - two conditions often seen in WS.
Williams Syndrome was once thought to occur in one in 20,000 births. New research has determined that it occurs in one in 7,500 births, yet there are fewer than 10,000 diagnosed individuals in the U.S. Many people with WS are undiagnosed or diagnosed at a relatively late age, even with the available genetic screening (FISH test). This is of concern because WS can result in significant and progressive medical problems. We feel blessed that Clare was diagnosed at such a young age so we can stay on top of these problems as they develop.
If you're interested in more information, here are two great websites:
www.williams-syndrome.org
www.wsf.org
Friday, July 15, 2005
The Good Times
I was looking over the blog today, and it comes across like so much of our life is negative. Which so isn't true!! Yes, there are many challenging moments in our life, but that can be said of any set of parents with a 2 1/2 year old and a 3 month old, never mind all the medical issues we are dealing with! We have many, many good times as parents of Jamie and Clare. Today was a great day - we went to the beach, and it was perfect beach weather. Jamie had a blast playing in the sand and waves. Clare wasn't too fond of it, but that's to be expected at her young age. Then we went out for burgers and ice cream for dinner and put the kids to bed early. (Well, we put Jamie to bed early, Clare's another story!) Each day has its moments where we want to rip our hair out. But then we get many moments where Shawn and I look at each other and know that this is why we wanted to be parents. It's the little things we concentrate on - Clare smiling unexpectedly, an unasked-for kiss from Jamie, Clare found her toes today (and they are very cute tiny toes!), Jamie started going down his big slide all by himself. It's the small triumphs and joys that are the most rewarding part of being a parent.
Thursday, July 14, 2005
Time Ticks Away
Hello all, This is Shawn. I feel like since Teresa does most of the blogs I should announce when I come on to do one. Maybe I will start all mine with a S-, that will prevent the corny opening of "Hello all, This is Shawn". I wanted to come on here and make a brief observation. I have noticed, and if there are other parents with children who have Williams Syndrome reading this, maybe they can corroborate this, but I have noticed that our life seems top be so much more hectic now than it ever was, and it was pretty hectic before. For example: The Saturday we were driving home from the hospital, Jamie was still in Maine with my parents. Clare was still pretty tired from the anesthesia, and Teresa and I were exhausted from the three nights of constant worrying. I mentioned to Teresa that it would be nice if we went and picked up a nice dinner somewhere, rented a movie and just did nothing but lay in bed and veg out. We even vowed to not answer the phone if it rang. So we got really excited about this night of doing nothing, no bedtime routines, no baths, no fighting over meals. Just complete isolation! It was going to be great. Then as soon as we finished eating, and just started the movie, Clare began screaming in pain. We could not figure out what was wrong but she was not acting like herself. So we called the cardiologist on duty, who immediately called us back and went through her list of questions. She said it sounded like constipation and that we should take her for a drive. So into the car we went, and sure enough she settled down. So we got back home after an hour and as soon as we took her out she started screaming again. So this time I told Mommy to get some sleep and I would drive her around some more. Thankfully at 10:00pm she fell asleep for the night. Now, this is one example but there are others that I won't bore you with. We are trying to figure out for ourselves if this is normal newborn things and us trying to get into a new routine or is this how life will be from now on. We miss the days of getting Jamie into bed at 7 and sitting down with a book or watching our favorite show on TV. In the sam respect I would not trade Clare for the world. (By the way, I have gotten a few daddy smiles of my own!). I would love to be able to get us into some sort of normal routine. But if I can't, well you will all have to catch us when you can!
Monday, July 11, 2005
Saturday, July 09, 2005
First Heart Catheterization - The Whole Story
(Warning - very long post!!)
We are home from the hospital! It was only for three days, but what a LONG three days it was. Clare is doing great. She is back to her old self (with 15 needle stick wounds plus the 2 catheter wounds) - smiling and cooing and enjoying her swing! It so SO nice to finally hold our baby without IVs and monitor wires in the way!
We arrived at the hospital on Thursday for Clare's pre-op procedures. She had a chest x-ray, EKG, lung profusion scan, and blood work. The lung profusion scan was the worst only because this is when the nurse put in her IV. Very mad baby, very sad parents - not fun! But the IV allows access to a vein without multiple needle sticks, so it was better to stick her this one time. She had her arm supported by a board, then wrapped in tape and a cast-like material so she wouldn't dislodge the IV - she looked like she had broken her arm! We also met with one of the doctor's who would be doing the cath and the anesthesiologist on Thursday to go over what they were going to do and all the risks. Both doctors were very thorough, which was reassuring, but at the same time, it was scary to hear what could go wrong. Shawn and I both liked the doctors, which is very important, since we are trusting them with our baby's life! After all Clare's tests, we were brought to our room on the cardiac floor. We met our nurse, and Clare's vitals were monitored periodically to provide a baseline for post-op. Clare was tired after a long day of tests, so we all went to bed early. Shawn stayed in a hotel since only one parent could stay overnight in the room. Being the nursing mom, I got first dibs!
The hospital was not what I expected initially. It was chaotic when we first got there! I was overwhelmed by the size and the number of people everywhere. Admitting was a zoo, which really got me worried. But once we got on the cardiac floor, I felt a little better. All the nurses Clare had were terrific. They bent over backward to make the parents as comfortable as the patients. There was a playroom on the floor, a kitchen with drinks and snacks, a computer room with Internet access. We were given a tour of our wing and told to make ourselves at home. They also have strollers and swings available for the babies, so there were other options than being stuck in the hospital crib all day. The hospital's policy towards nursing moms was great - they supported and encouraged breastfeeding. They provided two free meals a day for nursing moms, and pumps so I was able to maintain my supply while Clare was unable to nurse.
Cath day started early for us. Unfortunately, Clare and I did not get a lot of sleep because we had a roommate (a 10-month old who had undergone open heart surgery the previous day) who had a rough night. Plus there were multiple vital checks overnight, and Clare was cut off from nursing at 4:30am and put on an IV at that time. Shawn came over at the crack of dawn so I could shower before Clare went to the cath lab. Our family came in early to see Clare before her procedure. When the nurse came to get Clare at 7:30am, Shawn and I were allowed to carry her over to the cath lab. We were able to sit with Clare while the cath lab nurses checked her vitals. Then the second doctor performing the cath came and spoke with us, as well as the second anesthesiologist. It was now about 8:00am, and Clare was starving. This was tough on us - watching her cry for food. We were so helpless. Shawn rocked her and tried to comfort her, but Clare obviously didn't understand why we weren't feeding her. Finally, the cath lab was ready for her. The anesthesiologist gave Clare a sedative through her IV so she would be relaxed when they put the breathing tube in and started her under general anesthesia.
The hardest part of the whole day was leaving Clare. The sedative calmed her down almost immediately. Shawn and I said our good-byes and then we had to leave our sweet little baby to her doctors and nurses. We both fought tears as we walked out of the cath. God has blessed us with an incredible family, and they traveled to Boston from Maine and RI to be with us that day. We had breakfast as a family, then the waiting began. My sister took Jamie to the Children's Museum, so he wouldn't have to spend all day waiting in the hospital. We did have him come see Clare before she left us that morning, and you could tell he didn't like seeing her hooked up to the IV and monitors.
One of the best things about the hospital was that during the cath, a nurse faithfully called us every hour with an update. So when we received that first call, we knew that Clare had tolerated going under the anesthesia and received her breathing tube okay. I think a small weight lifted off both Shawn and I after receiving that first call. It was comforting to know that Clare had done well with the first phase of her procedure. We spent the day alternating between staying with our family (who were waiting in the cafeteria) and waiting in our room for the next phone call. I was surprised by how fast time went. I expected that it was going to be the longest wait in the world, but it actually wasn't. I know the hourly updates helped tremendously. That way, we weren't sitting around imagining the worst possible scenarios. We could actually visualize what was going on since we were being updated. We would get our update, meet our families to update them, then by the time we got back to our room, it was almost time for another update. That was the best!
The cath itself took three hours. The first hour was exploratory. Both the pulmonary and aortic sides were explored and photographed. The next two hours were spent balloon dilating four of Clare's pulmonary arteries. They were able to successfully dilate her right and left main branches and the two descending branches. When we got the call at 12:05pm that Clare's cath was done, and they were getting ready to take her out of anesthesia, Shawn and I were relieved. The nurse said she would call in 20 minutes to let us know we could come back to the cath lab to see Clare. Now THAT was the longest 20 minutes of my life! But finally the call came. Shawn and I almost ran to the cath lab! The nurse had prepared us that Clare may not look the greatest because they had to tape her eyelids shut and tape the breathing tube around her mouth. But when we got there, she looked like an angel. She was sound asleep. Her breathing tube was out, and she looked so peaceful. She had many needle stick marks and her face was slightly puffy from the fluids, but other than that, she was beautiful. (Of course, she is always beautiful!) She did end up needing a blood transfusion because she lost some blood when the doctor was pulling the cath in and out of her groin. That was very hard to accept in some ways - it's weird and a little scary to know that your child has someone else's blood in them. We were forewarned of this possibility, but neither Shawn nor I liked the idea very much. (Who would?!?) She was still receiving her transfusion when we saw her, so we actually got to see the blood going into her body. But we're thankful there are so many generous people willing to donate blood. So, if you can, DONATE BLOOD! We are actually going to look into getting a direct donation from a friend or family member before her next cath.
The news on Clare's heart is that her aorta is narrowed above the valve. Right now, it's not at a point where she needs intervention, so her open heart surgery will not be in the next couple of months. (Yeah!) Her pulmonary side has many, many branches extending into the lungs. Most of them were either narrowed or pinched. The doctors could only keep Clare under anesthesia and use the dye contrast for so long, so they only dilated the four main arteries while they were in there. Clare will undergo her second cath in two months to work on some more arteries. The doctors were happy with what they accomplished, but warned us that we wouldn't see any change in Clare because this was just the first step in a long road of caths. Her lung scan post-cath, though, was improved from the scan pre-cath, so the dilations did affect Clare even though we can't actually see a difference on the outside. Shawn and I got to see the photographs and video the doctors took during the cath. It was amazing to see Clare's arteries and aorta. It really helped us understand exactly what was wrong with her heart and why she is going to need multiple caths in the future.
Overall, we believe Clare did amazingly well during the cath procedure. There were some bumps during the cath, like the blood transfusion, some arrhythmias, and she needed dopamine to stabilize her blood pressure. She also needed an IV of heparin (a blood thinner) overnight to prevent a blood clot in her right leg because the pulse in that leg was extremely weak after the cath (this is the side of the groin where the catheter was inserted). But we feel so blessed that she got through everything and is home again. Other than some bad constipation (after effect of the anesthesia) and gas pains (which she is now on Pepcid for), she is back to her sweet self at home. It feels so good to be together as a family again, and we were so excited to see Jamie. And it's nice to get out of the hospital. I hadn't left in three days and was going a little stir-crazy by the end! I can't imagine what it's going to be like when Clare has her open heart surgery, but Shawn and I are glad to get this first cath under our belts. Now we feel "seasoned." We know what to expect from the hospital. We know our way around the hospital and the cardiac floor. We know that if you put a Sprite in the fridge to chill it, it will be gone when you go back for it. We know we will get little sleep. We know that Clare doesn't need five fashionable outfits while we're there because she looks so cute in the "Jedi Johnny" the hospital provided. We know how to be an advocate for Clare. We know she is in good hands with the doctors at Children's. And we know, especially, that she is in God's care.
Thank you again for all your prayers! We couldn't be surviving all this without you!
We are home from the hospital! It was only for three days, but what a LONG three days it was. Clare is doing great. She is back to her old self (with 15 needle stick wounds plus the 2 catheter wounds) - smiling and cooing and enjoying her swing! It so SO nice to finally hold our baby without IVs and monitor wires in the way!
We arrived at the hospital on Thursday for Clare's pre-op procedures. She had a chest x-ray, EKG, lung profusion scan, and blood work. The lung profusion scan was the worst only because this is when the nurse put in her IV. Very mad baby, very sad parents - not fun! But the IV allows access to a vein without multiple needle sticks, so it was better to stick her this one time. She had her arm supported by a board, then wrapped in tape and a cast-like material so she wouldn't dislodge the IV - she looked like she had broken her arm! We also met with one of the doctor's who would be doing the cath and the anesthesiologist on Thursday to go over what they were going to do and all the risks. Both doctors were very thorough, which was reassuring, but at the same time, it was scary to hear what could go wrong. Shawn and I both liked the doctors, which is very important, since we are trusting them with our baby's life! After all Clare's tests, we were brought to our room on the cardiac floor. We met our nurse, and Clare's vitals were monitored periodically to provide a baseline for post-op. Clare was tired after a long day of tests, so we all went to bed early. Shawn stayed in a hotel since only one parent could stay overnight in the room. Being the nursing mom, I got first dibs!
The hospital was not what I expected initially. It was chaotic when we first got there! I was overwhelmed by the size and the number of people everywhere. Admitting was a zoo, which really got me worried. But once we got on the cardiac floor, I felt a little better. All the nurses Clare had were terrific. They bent over backward to make the parents as comfortable as the patients. There was a playroom on the floor, a kitchen with drinks and snacks, a computer room with Internet access. We were given a tour of our wing and told to make ourselves at home. They also have strollers and swings available for the babies, so there were other options than being stuck in the hospital crib all day. The hospital's policy towards nursing moms was great - they supported and encouraged breastfeeding. They provided two free meals a day for nursing moms, and pumps so I was able to maintain my supply while Clare was unable to nurse.
Cath day started early for us. Unfortunately, Clare and I did not get a lot of sleep because we had a roommate (a 10-month old who had undergone open heart surgery the previous day) who had a rough night. Plus there were multiple vital checks overnight, and Clare was cut off from nursing at 4:30am and put on an IV at that time. Shawn came over at the crack of dawn so I could shower before Clare went to the cath lab. Our family came in early to see Clare before her procedure. When the nurse came to get Clare at 7:30am, Shawn and I were allowed to carry her over to the cath lab. We were able to sit with Clare while the cath lab nurses checked her vitals. Then the second doctor performing the cath came and spoke with us, as well as the second anesthesiologist. It was now about 8:00am, and Clare was starving. This was tough on us - watching her cry for food. We were so helpless. Shawn rocked her and tried to comfort her, but Clare obviously didn't understand why we weren't feeding her. Finally, the cath lab was ready for her. The anesthesiologist gave Clare a sedative through her IV so she would be relaxed when they put the breathing tube in and started her under general anesthesia.
The hardest part of the whole day was leaving Clare. The sedative calmed her down almost immediately. Shawn and I said our good-byes and then we had to leave our sweet little baby to her doctors and nurses. We both fought tears as we walked out of the cath. God has blessed us with an incredible family, and they traveled to Boston from Maine and RI to be with us that day. We had breakfast as a family, then the waiting began. My sister took Jamie to the Children's Museum, so he wouldn't have to spend all day waiting in the hospital. We did have him come see Clare before she left us that morning, and you could tell he didn't like seeing her hooked up to the IV and monitors.
One of the best things about the hospital was that during the cath, a nurse faithfully called us every hour with an update. So when we received that first call, we knew that Clare had tolerated going under the anesthesia and received her breathing tube okay. I think a small weight lifted off both Shawn and I after receiving that first call. It was comforting to know that Clare had done well with the first phase of her procedure. We spent the day alternating between staying with our family (who were waiting in the cafeteria) and waiting in our room for the next phone call. I was surprised by how fast time went. I expected that it was going to be the longest wait in the world, but it actually wasn't. I know the hourly updates helped tremendously. That way, we weren't sitting around imagining the worst possible scenarios. We could actually visualize what was going on since we were being updated. We would get our update, meet our families to update them, then by the time we got back to our room, it was almost time for another update. That was the best!
The cath itself took three hours. The first hour was exploratory. Both the pulmonary and aortic sides were explored and photographed. The next two hours were spent balloon dilating four of Clare's pulmonary arteries. They were able to successfully dilate her right and left main branches and the two descending branches. When we got the call at 12:05pm that Clare's cath was done, and they were getting ready to take her out of anesthesia, Shawn and I were relieved. The nurse said she would call in 20 minutes to let us know we could come back to the cath lab to see Clare. Now THAT was the longest 20 minutes of my life! But finally the call came. Shawn and I almost ran to the cath lab! The nurse had prepared us that Clare may not look the greatest because they had to tape her eyelids shut and tape the breathing tube around her mouth. But when we got there, she looked like an angel. She was sound asleep. Her breathing tube was out, and she looked so peaceful. She had many needle stick marks and her face was slightly puffy from the fluids, but other than that, she was beautiful. (Of course, she is always beautiful!) She did end up needing a blood transfusion because she lost some blood when the doctor was pulling the cath in and out of her groin. That was very hard to accept in some ways - it's weird and a little scary to know that your child has someone else's blood in them. We were forewarned of this possibility, but neither Shawn nor I liked the idea very much. (Who would?!?) She was still receiving her transfusion when we saw her, so we actually got to see the blood going into her body. But we're thankful there are so many generous people willing to donate blood. So, if you can, DONATE BLOOD! We are actually going to look into getting a direct donation from a friend or family member before her next cath.
The news on Clare's heart is that her aorta is narrowed above the valve. Right now, it's not at a point where she needs intervention, so her open heart surgery will not be in the next couple of months. (Yeah!) Her pulmonary side has many, many branches extending into the lungs. Most of them were either narrowed or pinched. The doctors could only keep Clare under anesthesia and use the dye contrast for so long, so they only dilated the four main arteries while they were in there. Clare will undergo her second cath in two months to work on some more arteries. The doctors were happy with what they accomplished, but warned us that we wouldn't see any change in Clare because this was just the first step in a long road of caths. Her lung scan post-cath, though, was improved from the scan pre-cath, so the dilations did affect Clare even though we can't actually see a difference on the outside. Shawn and I got to see the photographs and video the doctors took during the cath. It was amazing to see Clare's arteries and aorta. It really helped us understand exactly what was wrong with her heart and why she is going to need multiple caths in the future.
Overall, we believe Clare did amazingly well during the cath procedure. There were some bumps during the cath, like the blood transfusion, some arrhythmias, and she needed dopamine to stabilize her blood pressure. She also needed an IV of heparin (a blood thinner) overnight to prevent a blood clot in her right leg because the pulse in that leg was extremely weak after the cath (this is the side of the groin where the catheter was inserted). But we feel so blessed that she got through everything and is home again. Other than some bad constipation (after effect of the anesthesia) and gas pains (which she is now on Pepcid for), she is back to her sweet self at home. It feels so good to be together as a family again, and we were so excited to see Jamie. And it's nice to get out of the hospital. I hadn't left in three days and was going a little stir-crazy by the end! I can't imagine what it's going to be like when Clare has her open heart surgery, but Shawn and I are glad to get this first cath under our belts. Now we feel "seasoned." We know what to expect from the hospital. We know our way around the hospital and the cardiac floor. We know that if you put a Sprite in the fridge to chill it, it will be gone when you go back for it. We know we will get little sleep. We know that Clare doesn't need five fashionable outfits while we're there because she looks so cute in the "Jedi Johnny" the hospital provided. We know how to be an advocate for Clare. We know she is in good hands with the doctors at Children's. And we know, especially, that she is in God's care.
Thank you again for all your prayers! We couldn't be surviving all this without you!
Friday, July 08, 2005
Children's Hospital Update #2
This is update #2 (from Teresa). Clare is successfully out of anesthesia and is doing good. We had a couple incidences during the cath, but everything straightened itself out. We will go in a little more detail once we are back at home, but she did have a blood transfusion and some extra medication during the cath. She tolerated everything well. It's amazing what a resilient little baby she is! Right now, she is pretty much sleeping most of the time. She has nursed already and is eating great. If all goes well overnight, Clare will be discharged tomorrow. Yeah!
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