Finally a diagnosis. Taylor was diagnosed with Williams Syndrome in Feb 2008. It had been overlooked before as her heart defect was diagnosed late (in March 2006) and her facial features are very subtle. Here is a list of the typical symptoms/characteristics and how they affect her:
Characteristic facial appearance
Most young children with Williams syndrome are described as having similar facial features. These features which tend to be recognized by only a trained geneticist or birth defects specialist, include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age. Often referred to as "elf" looking.
Taylor's features are coming more noticeable as she gets older. You wouldnt think looking at her she has full lips or a "wide" mouth, however she has the classic smile. She also has a small, low set upturned nose. There are also lots of kids who totally look like they have WS and don't, so I don't know how much you can play into this.
Heart and blood vessel problems
The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
Taylor has a grade 4 heart murmur with thrill and an aortic valve problem that will someday cause her the need for a valve replacement, most likely in her mid 20's. Hopefully we see no changes on her cardiac echo next year!
Hypercalcemia (elevated blood calcium levels)
Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or "colic-like" symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.
Taylor's calcium has never been really looked at. Her doc did order a baseline level for her, which still needs to be done.
Low birth-weight / low weight gain
Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as "failure to thrive". Adult stature is slightly smaller than average.
Taylor was born with IUGR and while she appears tall, she has a hard time gaining weight and takes daily supplements to up her calorie intake. Most WS kids are extremely slow eaters and Taylor probably takes the cake for slow eating!
Feeding problems
Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.
Taylor still has choking/gagging episodes. She had a lot of suck issues as a newborn but they resolved pretty quick.
Irritability (colic during infancy)
Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.
Taylor's colic appeared at about 3 weeks and eased up at about 18 months....ugh
Dental abnormalities
Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.
Taylor's teeth are super small and she has the classic WS overbite. She goes to the dentist next week and currently has 1 loose tooth and has lost 5 teeth so far. (3 in the last 2 months)
Kidney abnormalities
There is a slightly increased frequency of problems with kidney structure and/or function.
Her kidney's have never been studied, but she has absent bowel and bladder control and FOUL smelling urine, i really do not think they are related to WS
Hernias
Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.
No issues
Hyperacusis (sensitive hearing)
Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.
Taylor has very sensitive hearing and at the same time, she can hear whispers in another room
Musculoskeletal problems
Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.
Taylor has hypotonia and her hands and fingers are hyperextensible.
Overly friendly (excessively social) personality
Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
Have you met Taylor? No, doesn't matter, she would give you a big hug and leave with you no problem. It is scary and we have to constantly remind her to not touch other people and we don't hug strangers.
Developmental delay, learning disabilities and attention deficit
Most people with Williams syndrome have some degree of intellectual handicap. Young children with Williams syndrome often experience developmental delays; milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which appears to get better as the children get older.
Taylor's IQ tested in mild mental retardation range (62), due to her only being in 1st grade we are still seeing what her strengths and weaknesses are and they are affected differently in all kids and her education needs to be and will be tailored to Taylor's own needs. The only way I will try to use her diagnosis in her education is to help attain music therapy for her. Most WS kids have an affinty for music and Taylor is no different in this respect.
This is the diagnosis we waiting 5 years to get and honestly, compared to things we have been told they are sure she has or they have tested her for, this makes us happy. This is manageable and she will have an awesome life. She would have without the diagnosis, but to us the label meant quite a bit and we can help prepare her for her future!
Wednesday, July 16, 2008
Monday, January 14, 2008
Make a Wish
Taylor was granted a wish by the Make a Wish Foundation in January 2005. Due to my pregnancy complications we were unable to travel until after the birth of our son and the wish we chose for Taylor needed good weather, so we set dates to take her wish trip March 15, 2006. We would have spent that day traveling and the following day, Taylor's 5th birthday, at Sea World in San Diego. Unfortunately, on March 13, 2006 we had a medical emergency with our son and our nightmare with him began (I need to make a blog for him). He was unable to be any real distance from a hospital and surgery after surgery and almost 1 yr later, he was given permission to travel. There is no way we would have taken the trip without him and his presence helped make it that much more complete.
When we first told the volunteers with MAW what we wanted for Taylor (she was non-verbal at the time the wish was granted) we were told she was too young. We wanted her to swim with dolphins. Taylor LOVES the water and she loves all animals. Due to restrictions on her ability to fly, we knew it needed to be in driving distance and she was not into Disneyland. So we chose the zoo and sea world for her and even in the span of the 2 years it took to get to her wish, we would not have changed it. It was absolutely the best wish for her.
We left on March 5, 2007. It was a loooong drive, about 10 hours and we thank AVIS profussely for providing a rental car with a DVD System! The hotel was gorgeous and it has everything we could have hoped for. The views were incredible and the room was huge. We spent March 6 at Sea World. The weather was perfect. My closest and oldest friend met us there with her family (husband, 3 yr old daughter and 5 month old son) and we fed the dolphins, watched the dolphin show, took 500 pictures of everything! We then had lunch with Shamu (MAW did not pay for any expenses for our friends, they payed their own way) and that was very cool. You sit next to his big tank and eat as the trainers tell you about orca's and he swims around. I then decided I would ask a trainer privately if they would allow Taylor to have a priavte meeting with Shamu after his big show. After speaking with the head honcho's of the whale department, they agreed and were actually excited about it. The whale was show incredible and Taylor enjoyed every second and she had NO idea what was next, but she did say (she is verbal now, but not good at it!) repeatdly she wanted to pet shamu, little did she know! After the show the trainer found us and walked us back. Our friends got to go with us too. If you could have only seen her face when shamu swam over to her. Makes me want to cry even remembering it. Nothing will ever top that look. We lifted her from her chair and leaned her over the side of the tank and she was able to rub and pet shamu and even kissed him! She also got to feed him. The staff and trainers were all there and no one rushed us or made us feel bad that we asked, they took pictures for us and they were just above and beyond to make this special for Taylor. She spent about 25 minutes with him. We really understood what MAW was about at that time. We have had 5 years of hell at that point and in those 25 minutes, we forgot it all, and it was about her and us and we enjoyed every second.
March 7 was spent at the Zoo....my advice on the San Diego Zoo? Wear the best, most comfortable shoes as you can find! I was not expected that many hills and I was out of shape and I did get crabby a few times! It was hard to push her chair and our son's stroller up some of those monster hills and the people movers they have are not wide enough for her chair (someone call ADA...lol) But, she loved seeing all the animals and we saw EVERY animal! The weather was again perfect and the animals were all out. We spent most of the day there and after a rest at the hotel, we went to the beach. The kids had never been to the beach and they thought it was pretty cool! Dinner with our friends ended our tiring day.
March 8, we went to the WildLife park. On the way there our son began to vomit, this was concerning as he is not allowed to vomit (yes, i Know, I will get moving on his blog!) so we were a little worried but figured it was the yogurt his sister gave him that morning (yup, she got time out). Did I mention the hills being an issue at the zoo? OMG, the wildlife park was worse! I was a little disappointed at the lack of exhibits they had and the best was the lion one. We did see a snow tiger and I love those! During lunch our son got sick again and again and we had to leave and make arrangements with his pediatrician 10 hours away to call in a prescription for an anti-vomiting suppository to the pharmacy. That was a huge ordeal, but we got them and we got the vomiting stopped.
March 9, was another day at the zoo. We were able to see the animals we didnt see on Wed and the exhibit and shows we didnt see. We took it easy and took our time and still only spent about 2 hours there. With left over money, we went back to Sea World. My friend and her daughter came with us and it was still fun. Taylor loved watching the shows again and she got to pick out some awesome suvioners. Our son, wiped out from the day before slept most of the time.
March 10, time to go home. We are all tired and I ended up getting sick on the way home. That was a miserable drive! Even had I forseen my being sick, the only thing I would have changed, was treating our boy like he had the flu! LOL. I would change nothing else and we had a satisfying, suprisingly relaxing, once in a lifetime vacation and in the end, going when she was 1 week away from 6 was probably better than her 5th birthday. I think she was able to enjoy herself more and had more an understanding of what we were doing.
In August, we were invited to the MAW radiothon fundraiser for 105.1 KNCI and Taylor and I talked with the radio host and Taylor was giddly shouting that she pet shamu into the microphone.
In October we went to the annual Wishmaker Ball and it was humbling being there and being with a lot of parents whose children were no longer here.
Make a Wish is the most amazing organization. When I felt like I was asking a lot, they kept asking and offering. Our workers were the most amazing ladies and they helped make this such a wonderful experience.
Donate, donate your time, your money, anything you can. Their cause helps take the pain, the sting and the sorrow out of someone's life for a brief time and leaves them with lifetime of memories. We know every second we have with Taylor is a blessing and every second of that time with her, being with things she loves, was the best gift possible!
When we first told the volunteers with MAW what we wanted for Taylor (she was non-verbal at the time the wish was granted) we were told she was too young. We wanted her to swim with dolphins. Taylor LOVES the water and she loves all animals. Due to restrictions on her ability to fly, we knew it needed to be in driving distance and she was not into Disneyland. So we chose the zoo and sea world for her and even in the span of the 2 years it took to get to her wish, we would not have changed it. It was absolutely the best wish for her.
We left on March 5, 2007. It was a loooong drive, about 10 hours and we thank AVIS profussely for providing a rental car with a DVD System! The hotel was gorgeous and it has everything we could have hoped for. The views were incredible and the room was huge. We spent March 6 at Sea World. The weather was perfect. My closest and oldest friend met us there with her family (husband, 3 yr old daughter and 5 month old son) and we fed the dolphins, watched the dolphin show, took 500 pictures of everything! We then had lunch with Shamu (MAW did not pay for any expenses for our friends, they payed their own way) and that was very cool. You sit next to his big tank and eat as the trainers tell you about orca's and he swims around. I then decided I would ask a trainer privately if they would allow Taylor to have a priavte meeting with Shamu after his big show. After speaking with the head honcho's of the whale department, they agreed and were actually excited about it. The whale was show incredible and Taylor enjoyed every second and she had NO idea what was next, but she did say (she is verbal now, but not good at it!) repeatdly she wanted to pet shamu, little did she know! After the show the trainer found us and walked us back. Our friends got to go with us too. If you could have only seen her face when shamu swam over to her. Makes me want to cry even remembering it. Nothing will ever top that look. We lifted her from her chair and leaned her over the side of the tank and she was able to rub and pet shamu and even kissed him! She also got to feed him. The staff and trainers were all there and no one rushed us or made us feel bad that we asked, they took pictures for us and they were just above and beyond to make this special for Taylor. She spent about 25 minutes with him. We really understood what MAW was about at that time. We have had 5 years of hell at that point and in those 25 minutes, we forgot it all, and it was about her and us and we enjoyed every second.
March 7 was spent at the Zoo....my advice on the San Diego Zoo? Wear the best, most comfortable shoes as you can find! I was not expected that many hills and I was out of shape and I did get crabby a few times! It was hard to push her chair and our son's stroller up some of those monster hills and the people movers they have are not wide enough for her chair (someone call ADA...lol) But, she loved seeing all the animals and we saw EVERY animal! The weather was again perfect and the animals were all out. We spent most of the day there and after a rest at the hotel, we went to the beach. The kids had never been to the beach and they thought it was pretty cool! Dinner with our friends ended our tiring day.
March 8, we went to the WildLife park. On the way there our son began to vomit, this was concerning as he is not allowed to vomit (yes, i Know, I will get moving on his blog!) so we were a little worried but figured it was the yogurt his sister gave him that morning (yup, she got time out). Did I mention the hills being an issue at the zoo? OMG, the wildlife park was worse! I was a little disappointed at the lack of exhibits they had and the best was the lion one. We did see a snow tiger and I love those! During lunch our son got sick again and again and we had to leave and make arrangements with his pediatrician 10 hours away to call in a prescription for an anti-vomiting suppository to the pharmacy. That was a huge ordeal, but we got them and we got the vomiting stopped.
March 9, was another day at the zoo. We were able to see the animals we didnt see on Wed and the exhibit and shows we didnt see. We took it easy and took our time and still only spent about 2 hours there. With left over money, we went back to Sea World. My friend and her daughter came with us and it was still fun. Taylor loved watching the shows again and she got to pick out some awesome suvioners. Our son, wiped out from the day before slept most of the time.
March 10, time to go home. We are all tired and I ended up getting sick on the way home. That was a miserable drive! Even had I forseen my being sick, the only thing I would have changed, was treating our boy like he had the flu! LOL. I would change nothing else and we had a satisfying, suprisingly relaxing, once in a lifetime vacation and in the end, going when she was 1 week away from 6 was probably better than her 5th birthday. I think she was able to enjoy herself more and had more an understanding of what we were doing.
In August, we were invited to the MAW radiothon fundraiser for 105.1 KNCI and Taylor and I talked with the radio host and Taylor was giddly shouting that she pet shamu into the microphone.
In October we went to the annual Wishmaker Ball and it was humbling being there and being with a lot of parents whose children were no longer here.
Make a Wish is the most amazing organization. When I felt like I was asking a lot, they kept asking and offering. Our workers were the most amazing ladies and they helped make this such a wonderful experience.
Donate, donate your time, your money, anything you can. Their cause helps take the pain, the sting and the sorrow out of someone's life for a brief time and leaves them with lifetime of memories. We know every second we have with Taylor is a blessing and every second of that time with her, being with things she loves, was the best gift possible!
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