Thanksgiving 2009

What a busy extended weekend!

First, I'll update you on the BWS. I was quite upset the first few days after the diagnosis, understandably, but now that the reality has set in, I'm somewhat better. The constant testing is still killing me, but maybe that will get better too. He had his first sonogram last Friday. They said the doc should have the results by Monday, but she did not at the time of our appointment and we haven't heard anything since. He had to get blood and urine taken Monday. Taking the blood was an AWFUL experience. The doctor tried for over forty five minutes.. sticking him in both his wrists and arms.. He screamed the entire time and she still didn't get ANY blood. It was horrible. I had taken a sheet in I got off the BWS website about how they should just be able to do a fingerpoke, so she said she would check with the lab. The next day I heard from the nurse and she said they CAN do the fingerpoke! Thank GOD!! That will be so much easier and less traumatic. His urine sample came back good too! AND, they got us in with a geneticist in St. Louis on December 10! It was a good news day. We have to drive further than we would have had to to go to the June appointment, but it's worth it!

Aeson has definitely showed that he's growing waaay more than the average baby. He's in 6-9 month clothes now and even wore a 12 month outfit the other day. He won't be four months until Dec 3. It's no wonder he wants to eat all the time. I'm just thankful that my milk has been enough for him. He still wakes 1-2 times a night, but it doesn't bother me. He never naps very long during the day.. usually only for a half hour at a time! That's kind of hard, because I don't have much time to get things done around the house but I know that won't last forever.

I also weighed myself this last week and had lost 4lbs in the last two weeks! Which actually puts me just below my weight when I found out I was pregnant. It certainly doesn't feel like it.. I suppose it's just distributed differently now. I'm hoping to continue losing.

So on to our weekend...

I was so thankful for a shorter work week. Wednesday evening, Eric and I watched Four Christmases. It was a lovely start to the Thanksgiving weekend. Thursday, I made biscuits and gravy for breakfast, and we watched Funny People (which was way too long). We went to Eric's parents for a late lunch and had all the Thanksgiving fixings. It was delicious and Aeson actually slept for most of the meal. After dessert, we watched the Charlie Brown Thanksgiving and National Lampoon's Christmas vacation. We had a very, very good time with his family. The four of us stayed the night there, so Eric and I could leave early for Black Friday shopping! It was our first year going. We got up around 4am and headed out after Aeson ate. Unfortunately, since we were up, Aeson decided he wanted to be too, so Eric's mom didn't get to go back to sleep!

Anyway, Eric and I had an awesome time shopping. We went to Toys R Us first and got Westen done! I'm excited about the gifts we got him this year. It was super fun picking them out together too and getting such good deals! We then shopped for other family members at the mall and surrounding stores, ate lunch out, and then headed back to his parents. We spent some more time there before heading home to shop just a bit more, eat dinner at home, and then get out our Christmas tree! I was SO upset to find out that all of our Christmas tree decorations were ruined. We'd put them in an area of the basement that doesn't usually get wet.. only this year, with all the rain, it did. We hadn't even thought about it until we went down to get them. It's a big mess we need to clean up now. Ugh! I suppose that will teach me to put them in a watertight container next time. We made a run to Kmart to get some decorations, only we didn't have much money after the day's shopping! We got what we could and finished decorating (while listening to Christmas music :)) when we got home. Westen loved helping, and he also loved helping me wrap some of the presents afterward.

I can't believe I wasn't more exhausted by the end of the day yesterday. It was a good, fun day though.

Now we're up to today.. We have Thanksgiving dinner at my mom's tonight and I have a baby shower to go to tomorrow. Plus Sunday is always our clean house/do laundry/etc day, before heading back to a full work week Monday. Boo! :(

Diagnosis

I've been reading a bit, but I've been so, so busy and haven't yet been able to comment.. I haven't forgotten all of you! And I will be blogging away about lots of stuff pretty soon. But, for now, I just wanted to post this- now that Aeson has indeed been diagnosed with it. He has the difference in the chromosome and will now undergo blood/urine tests and sonograms regularly for all of his childhood.. starting this Friday. I can't write all my thoughts/feelings right now.. but just, as you read this, imagine it was your child.

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a growth regulation disorder. The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits. Children with BWS may also have hemihyperplasia, in which some parts of the body are larger on one side than on the other.

The major features of BWS, macrosomia and macroglossia, are often present at birth. Abdominal wall defects such as omphalocele, which causes the inside of the abdomen to protrude through the navel, are also present at birth and may require surgery before an infant leaves the hospital. Mothers of children with BWS may have pregnancy complications, including premature delivery and polyhydramnios (excess amniotic fluid). An unusually large placenta and long umbilical cord may also be present.

The increased growth rate generally slows during childhood. Intellectual development is usually normal, and adults with BWS typically do not experience any medical problems related to their condition.

What causes BWS?

BWS is a genetic condition related to changes in the genes (in an area called the short arm) of chromosome 11 (11p15.5). In most cases (about 85%), the genetic changes that cause BWS happen sporadically (occurs by chance) in families where there is no history of the condition. In about 10% to 15 % of cases, the genetic changes may be inherited. This means that the risk for BWS can be passed from generation to generation in a family. The genetic mechanisms that cause gene mutations (alterations) resulting in BWS are complex.

How is BWS inherited?

The 10% to 15% of BWS that is inherited follows an autosomal dominant inheritance pattern. Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. In autosomal dominant inheritance, a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.

How common is BWS?

BWS has been found across different population groups. Approximately one in 13,700 people have BWS. Some researchers believe this number could be an underestimate.

How is BWS diagnosed?

The diagnosis of BWS is clinical, meaning that it is based primarily on physical features. BWS is suspected in children who are larger than expected for their age, especially if growth is not symmetrical (the same on both sides). An enlarged tongue and abdominal wall defect, primarily omphalocele, are also considered to be common features. There are many other features that may be seen in some children with BWS. However, not every child with BWS will have every feature. Features are listed as major (common) or minor (less common). It is generally agreed that at least one major feature and two minor features are required to consider a diagnosis of BWS:

Major Features

* Macrosomia (large body size)

* Macroglossia (large tongue)

* Omphalocele (abdomen protrudes through navel)

* Hemihyperplasia (some parts of the body are larger on one side)

* Ear creases or pits

* Visceromegaly (enlargement of one or more abdominal organ)

* Embryonal tumor (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma)

* Adrenocortical tumor

* Kidney abnormalities

* Cleft palate (gap in the roof of the mouth)

* Family history of BWS

Minor Features

* Polyhydramnios (excessive amniotic fluid)

* Prematurity (low birth weight)

* Hypoglycemia (low blood sugar)

* Advanced bone age

* Heart problems

* Diastatsis recti (separation of the right and left sides of the main abdominal muscle)

* Hemangioma (noncancerous tumor made up of blood vessels)

* Facial nevus flammeus (hemangioma of the skin, also called a “port-wine stain”)

* Characteristic facial features

* Identical twins

Genetic testing for gene mutations associated with BWS is available, but is complex. It is recommended that families considering genetic testing for BWS meet with a clinical geneticist and genetic counselor that can explain the tests and coordinate testing. Currently available genetic testing methods may be able to identify up to 80% of genetic mutations causing BWS.

What are the estimated cancer risks associated with BWS?

The estimated risk for tumors in children with BWS is about 7.5%. Tumors are very rare after age 10, and the risk for an individual tumor decreases over time until the risk is similar to that of the general population. Several different tumor types, both cancerous and benign (noncancerous), have been reported in children with BWS. The most common tumor types are:

* Wilms tumor (kidney tumor)

* Hepatoblastoma (liver tumor)

* Adrenocortical carcinoma

* Neuroblastoma

* Rhabdomyosarcoma

What are the screening options for BWS?

Current suggested screenings for people who are known or suspected to have BWS include:

* Baseline magnetic resonance imaging (MRI) or computed tomography (CT or CAT) scan of the abdomen, at the time of diagnosis

* Abdominal ultrasound to view kidneys, liver and adrenal gland every three months, until age 8

* Serum alpha-fetoprotein every three months, until age 4

* Regular physical examination, including abdominal exam; schedule determined by your doctor


Most children (>80%) with BWS do not develop cancer; however, children with BWS are much more likely (~600 times more) than other children to develop certain childhood cancers, particularly Wilms' tumor (nephroblastoma) and hepatoblastoma.[1] Individuals with BWS appear to only be at increased risk for cancer during childhood (especially before age four) and do not have an increased risk of developing cancer in adulthood.[1] If 100 children with BWS were followed from birth until age ten, about 10 cases of cancer would be expected in the group before age four, and about 1 case of cancer in the group would be expected between age four and ten.

In addition to Wilms tumor and hepatoblastoma, children with BWS are also at increased risk of developing adrenal cortical carcinoma, neuroblastoma, and rhabdomyosarcoma.

Both Wilms tumor and hepatoblastoma can usually be cured if diagnosed early. Early diagnosis allows physicians to treat the cancer when it is low stage. In addition, there is less toxic treatment.[9] Given the importance of early diagnosis, all children with BWS should receive cancer screening.

In general, the prognosis is very good. Children with BWS usually do very well and grow up to become the heights expected based on their parents heights. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully.

Children with BWS for the most part had no significant delays when compared to their siblings. However, some children with BWS do have speech problems that could be related to macroglossia or hearing loss.

Advances in treating neonatal complications and premature infants in the last twenty years have significantly improved the true infant mortality rate associated with BWS. In a review of pregnancies that resulted in 304 children with BWS, not a single neonatal death was reported.[11] This is compared to a previously reported mortality rate of 20%.[12] The data from the former study was derived from a BWS registry, a database that may be slightly biased towards involving living children; however, death was not an exclusion criterion to join the registry. This suggests that while infants with BWS are likely to have a higher than normal infant mortality risk, it may not be as high as 20%.

Halloween and birthday

Well, Aeson's bloodwork is now being sorted through and inspected, or whatever it is they do, to test it for the syndrome I talked about before. Doctor wasn't sure how long it will take.. which I found kind of odd.. but expected it to be a couple of weeks. They had a hard time getting the blood and it was a terrible experience. But much better to know, right?

Halloween was awesome this year! Westen had his party at school and he was sooo excited. I went for a little bit and took some pictures. When he had his costume on, he became Optimus Prime.. No one was to call him Westen.. and he did the same with everyone else in costumes! It was quite funny because he would even do it walking along the streets during trick-or-treating. He'd yell out 'Hi Batman!' etc. He was very much 'into' Halloween this year. We went to the small town I grew up in the first night and then the town we live in now the second. He LOVED walking along the streets (the weather was actually not too bad.. but quite windy!), ringing doorbells and saying 'trick or treat!,' and then saying 'thank you!' and scurrying to the next house. It was so much fun. I don't think there's anything better or more fun than to see your children happy/having fun.

My birthday was yesterday. I turned twenty six! I feel so old!! :) This was the first year that I actually was NOT really excited about it.. I feel like from this point on, I'm only going to get OLD. I've been so darn busy too that I felt I wasn't really able to ENJOY things lately. I forgot to mention when I was writing before about how busy I am that Eric also works Saturdays.. so yet another busy day for me and only one day that we actually get together. I'm getting so burnt out on working and doing it all.. It's so hard and all I really want to do is be home with my family.

Anyway, back to my birthday.. I got lots of nice cards and I got the day off of work. I was rather taken aback when my boss asked me what I was doing and asked if the kids were still going to daycare so I could have some time to myself. I WANT my free time to be with them! I hadn't even CONSIDERED not spending the day with them. So that's what we did.. just spent the day together and Aeson was actually pretty fussy! We got to spend part of the day with my mother-in-law, though, so that was fun. Then we spent the evening with my family, eating dinner and cake that I baked. :) Birthdays just aren't what they were when you were younger! Tonight, we're going to dinner with a few of our friends and I'm very excited about that. Hopefully it'll be a good time!

Something funny this week.. I had someone tell me the bag that holds my pump etc was a nice lunch bag.. I just kept my mouth shut. :) haha.