A Special Girl

Neurology

2009-06-30T22:08:00.000-07:00

Taylor had her 6 month appointment today. She has been going every 6 months since she was 15 months old! I was hopping he would release her to 1 yr, but no such luck. He said he wants her back in 6 months.

She has been complaining of hearing birds and bells for awhile now. He says what we suspected and that it is her aura of her seizures. He doesnt want to mess with her meds as her daytime seizures have been gone for over 2 yrs (aside from a suspected absence every once in a while). She still spasms and jerks throughout the night. Even at her highest dose the medication only helped a bit. Doesnt appear to affect her life during the day unless she has a bad night.

He is pleased with her progress!

I thought he was going to cry. He has been seeing Connor since Connor was 5 months old, and for the first time, Connor looked at him and said hi...unprompted. He was blown away!
=)

Her next appointment is Decemeber 31!

Urology

2009-05-17T19:08:00.000-07:00

Taylor's urologist says she has a non neurogenic neurogenic bladder. He says it is a "software" problem and some connections just arent hitting. She has a thickened bladder wall, but no reasons for a neurogenic bladder. She also doesnt really fit the reasons why a kid would have a non-neurogenic neurogenic bladder either.

His suggestion was to get her a watch and set it every 4 hours and "tell" her to go to the bathroom. He wants to see her back in a yr for another renal/bladder ultrasound to make sure her kidney's are still ok and see where her bladder is.

In the 2 weeks since her appointment we have been able to get her to go about every 8-10 hours. She goes at least once at school. I need to get her watch ordered so she can get used to it. They are super cool watches. They vibrate instead of beep and they are waterproof so she can still swim with them on.

We are so glad there is nothing major structurally wrong in her kidney's.

Williams Syndrome

2008-07-16T14:52:00.000-07:00

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!

Make a Wish

2008-01-14T12:28:00.000-08:00

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!

Taylor's Seizures

2007-08-12T12:55:00.000-07:00

When Taylor was fist diagnosed with Infantile Spasms, we tried Phenobarb. hated that medication! She, within a few months was having absence seizures as well. She once had an 8 min absence seizure. She has over the course of 5 years had every type of seizure imaginable. We have tried Topmax and Klonopin as well. We have had good success with Depakote. She began this at 2 yrs and that has given us the most control. The only downside is the tremors she gets. Most people will have a mild tremor from depakote, or it will only last a few minutes. Hers are constant and seem to get worse as time passes. There is a possibility it is onlt partly related to the meds. The only way to really know if take her off the meds. Her neuro refuses to "unleash the beast" He is happy that we have the control we do. She has spasms througout sleep, some are the normal sleep myoclonus, some are seizures.

She will be having a 24 hr VEEG and a repeat MRI. It has been 2 years since either were done. We were hoping to get ti done in August, but we may not. She is doing good at the moment, so we arent in a huge hurry.

Introduction to Taylor

2007-08-11T19:55:00.000-07:00

It is hard to find a place to really start with Taylor.

To be honest, she got screwed from the start. Sorry, but she did.

My pregnancy was awful and highly complicated. I was fairly young. My husband and I had already suffered a miscarriage. At about 20 weeks gestation (5 months) it was discovered that I had white spots on my placenta. Now a typical pregnancy will develop this as well. Just not until much later. A Placenta is only good for about 40-42 weeks, so to have it start to "go bad" halfway through is not a positive nor typical thing.

The only thing we can think of that led to this was the severe morning sickness I had. Even up to 28 weeks I was throwing up everything I ate.My OB/GYN decided at about that time that I needed to go on bed rest. My placenta was failing fast and the little girl I was carrying was feeling the effects.

I was RH negative and had to have the wonderful rhogam shot.By 30 weeks I was having bouts of preterm labor and being followed weekly through ultrasounds by a perinatologist. The only good thing was I got to see her every week. I looked forward to be able to get out of bed and go see her! At about 33 weeks that noticed that she wasnt gaining weight and was falling behind in growth (a GOOD ultrasound can be off +/- 1 lbs on ultrasound at that point, so I hate that docs use this method of gaging a baby's growth)

At 34 1/2 weeks I went to my weekly ultrasound and they did a doppler flow. This measures the flow of blood through the umbilical cord. My daughter's was very high, meaning she likely had high blood pressure herself. She was about 3 weeks behind in growth and my placenta was really calcified. Through all the preterm labor scares, my cervix was only dialated to 1, 1/2, and about 80% effaced, but they decided to induce anyway. I was admitted at 34wks5days. They started high dose pitocin and broke my water as soon as I hit 3 cm....then then contractions stopped (I never did get past 3 cm dialated). 19 1/2 hours later, I'm being wheeled in for a c-section.

Her heart rate did well during that time and she was not in distress.She was born at 35 weeks exactly, March 16, 2001. She had 10 fingers and toes and was tiny! She weighed in at 4.9 lbs, 18 in. She had bright red hair and she was pretty alert. Her apgars were 9/9. Not bad for a preemie with IUGR (Intrauterine Growth Restriction) They allowed my husband to walk her to the nursery...he was so excited! They NEVER let dad's do that!

They sewed me up and my OB told me my placenta was totally calcified and probably wasnt even functioning. He and the perinatologist doubted she would have survived even a few more days. We were all thankful we took her when we did.

She was assessed and she had a pretty big head for such a small baby, but they didnt seem worried. She had SEVERE hypoglycemia and required a sugar IV for 3 days. I had a hard recovery and since she was on an IV in the NICU, I couldnt see her for the first 48 hours. That was hard. The when I tried, I ended up passing out and then had to wait longer. They brought her to me when she was off the IV. The first thing out of my mouth to the nurse was " She looks jaundiced" She assured me she wasnt. Ok, I'm a self proclaimed jaundice spotter in newborns even before levels are peaked....I'm just good at that....8 hours later they tell me she is jaundiced......DUH! Her levels were about 15 and they wanted her under lights since she was a preemie. However, they were releasing me and wouldnt start lights on her until the next day, so I begged them to let me take her home. She was nippling ok and was off the IV support. They agreed. The next morning her levels were 19. She went under the lights. Her levels peaked at 21 (brain damage can occur at about level 25) and she stayed under those lights for 4 days. We bonded like crazy!

She seemed to do great those first few months. Even looking back there is nothing that I can think of that was different about her. She grew according to her scale, she had NASTY colic, but got over that.

The first ear infection was at 6 months, the 2nd was in the opposite ear that 7 months, the 3rd, a bilateral ear infection was at 8 months, see a trend? Her first pneumonia was at 9 months. Her 2nd was at 11 months. She developed Strep Throat at 11 months......do you know how unusual that is? She would spike HIGH HIGH fevers (highest doccumented was at the 4th pneumonia at 106.7 and maxed out on Motrin and Tylenol, that was scary)

It is hard to piece everything together, but within days of getting penicilin shots her legs for the strep, she got Hand, Foot and Mouth Disease, then 2 weeks later she had bilateral tubes put in her ears, within days of that she couldnt walk anymore (she had begun at about 10 1/2, 11 months) she couldnt even crawl straight. She was diagnosed with Cerebellar Ataxia. They did an LP and CT and didnt see what was going on, what the cause was. It was later suspected that she was the 1 in 1,000,000 that the HFMD would go to the brain, causing Encephalitis. Within 1 month, she could barely crawl, she lost all her speech, she didnt even babble. She didnt smile, she looked blank and she was diagnosed with Seizures. Infantile Spasms. This was a very late age to be diagnosed. She began medication at 14 months. Due to the late onset, they used phenobarbitol instead of the preferred ACTH because of the atypical presentation.

She began early intervention at 15 months.

Looking back I am proud of myself that I got her help so fast in the midst of everything.So that was her birth and her trauma's. Fast forward to now, she has had over 35 ear infections, 6 episodes of pneumonia (her x-rays showed a spot on her right lower lobe that looked like there might have been a hole in her lung that eventually healed. Her pulmonoglist is sure this was the cause of her frequent pneumonia's), encephalitis, a metabolic crisis, failure to thrive, several seizure medication changes, a mild hypotonic cerebral palsy diagnosis, a grade 3 murmur, a congnetial heart defect, progressive muscle weakness, chronic fatigue and now has refractory seizures.

The hardest diagnosis she got was at age 5.....mental retardation. She has an IQ of 62...that was the most devestating part of this long road.

We have no idea what happened, where things really went wrong. Some docs believe her brain was just waiting for 1 little insult to shut off, some saw it just took US awhile to see something was wrong. Some docs say it was the encephalitis, some say a metabolic disorder....we dont know what to say.

I will update this more, but I'm exhausted!

Taylor is now 6 yrs old.