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.

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!

Clare, our sunshine girl - July 19, 2005 Posted by Picasa

Jamie in his pool - July 19, 2005 Posted by Picasa

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:

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

Clare at 3 months - July 1, 2005 Posted by Picasa

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!

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!

Children's Hospital Update

Hello all. I wanted to put a brief post up to give all of you an update. Today is the day of Clare's catheterization. She has been doing well so far, we are into hour three. They so far have succesfully checked the pressures in her heart and balloon dilated her pulmonary branches. This will allow for more oxygen to get to her little lungs. Thank God and all of you for your prayers. This has been a tough day for Teresa and I and we could not have done it without all of your support. We will try to keep you all as updated as possible and when this is all done give a more in depth account of what this whole process has been like. Once again, Thank you all for your prayers! God Bless, Shawn and Teresa.

Wednesday, July 06, 2005

St. Therese, the Little Flower

Clare's middle name is Therese. We named her after Shawn's maternal grandmother, Therese, who passed away in October 1999, a month before we were married. Shawn was very close to his grandmother, and it means a lot to us that she lives on in our little Clare Therese. Clare's middle name is also for me (Teresa), and I am named for my maternal grandmother, Teresa. Plus I have always had a devotion to St. Therese, the Little Flower. So Clare has many wonderful people she is named after!

We are very faithful people, and this has helped us tremendously during this whole experience. I honestly don't know how we would be getting through this except for our faith in God. We know He is holding Clare Therese in the palm of His hand, and He has a plan for her. I don't know how many people reading this are faithful, but I feel if I wasn't a follower of Jesus, what would all this mean to me? Probably nothing. However, believing that we are all children of God, I have faith that God is watching out for Clare and our family.

Saints are powerful intercessors, and St. Therese is a very powerful intercessor. My grandmother Teresa has been receiving signs from St. Therese that she is watching out for her little namesake. When my grandmother first shared this with me (and I hope I am not embarassing you, Granny!), I admit I was a little peeved (not at my grandmother but in general) that I wasn't receiving the signs. After all, I am Clare's mother - shouldn't St. Therese be telling me that she is here watching over Clare? Once I stopped to think about it, though, I realized that I am so busy dealing with the day-to-day business of being Clare's mother that even if St. Therese was sending me signs, I wouldn't notice them. So I thank her and I thank God that my grandmother is able to notice these messages from St. Therese - they are a source of hope and comfort for us. Sometimes it takes other people to pass along the message.

I wanted to share a couple of these signs because they mean so much to me, especially the fact that my grandmother is praying for us to St. Therese and taking the time out of her own busy life to listen to what St. Therese is telling her. On Sunday evenings, my grandmother works the crossword puzzle in the Showtime. This week there was a clue to which the answer was "Therese." A friend mailed her a St. Therese Chaplet set of beads and the directions how to say the Chaplet - a prayer of intention, then 24 Glory Be to the Father (for the 24 years of St. Therese's life.) My grandmother turned on the television one day to see a quote from St. Therese on the screen. There have been other signs, too. It's amazing.

So thank you, Granny, and thank you, St. Therese!

Sunday, July 03, 2005

Happy 4th of July! (Clare and mommy, Teresa) Posted by Picasa

Happy 4th of July

Happy Fourth of July!

We are having our big family barbecue today (it's actually the 3rd of July). It will be nice to have both sides of the family together before Clare's heart cath. We are going down to Boston this upcoming Thursday. She has pre-op on Thursday, which means a whole battery of tests - x-rays, IV, blood work, lung scans. Then her cath will be on Friday, and she will be discharged on Saturday.

Clare is smiling more and more every day. She is so precious! She had her evaluation for her Early Intervention Program last week. Two therapists came and played with her for an hour. She was exhausted when they were done and slept for three hours afterward! It breaks my heart to think that 45 minutes of looking at a toy or holding one in her hand wipes her out. As expected, Clare has poor muscle tone, flexible joints, and low endurance. She was able to hold a ring in her right hand for a good amount of time, but not her left hand. She also has trouble holding her head up for an extended period of time, and has trouble doing anything when she's lying flat. She needs to be well-supported in her head and trunk to be able to really do things with her arms. We are hoping the endurance improves once her heart issues are treated, which should help with her therapy because then she can do more for longer stretches. She will have occupational therapy once a week to help with the poor muscle tone. The therapists thought she was doing great cognitively, though. We were very happy to hear that! She is very alert and aware of her surroundings. So we need to help her continue to explore those surroundings so she can continue to grow cognitively. That is what the therapy will help us do for her.

Clare had her 3-month photos taken two days ago. We're hoping to get them back soon, so I can post one! We were very happy with the photos and cannot wait to share them!

So now we're off to Boston soon for her first cath. We will let everyone know how it goes!