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.

Beckwith Wiedemann Syndrome

Immediately after posting my last entry, I decided to google 'large tongue in infant.' I thought that it would just bring up how some babies do have them and grow out of them. Instead, it brought up a syndrome. An overgrowth syndrome. And he has most of the characteristics. And if you don't already know, cancer is due to overgrowths.

It's called Beckwith Wiedemann Syndrome. The babies characteristically have large tongues, hernias (he has), large birth weight and height (7lbs, 5oz and 20inches 4 full weeks early), low blood sugar after birth (don't know about this one), the strawberry mark/'stork bite' (he has on his forehead, eyelids, and back of neck), ear pits or grooves (he doesn't have at all.. Interestingly, Westen has an ear pit that he's had since birth but I never knew what it was-- until now), and enlargement of one side of the body (nothing I've noticed at all). I've read most babies don't have all.. most have two.. It's just different for everyone. It's also more of a childhood thing, with most babies growing into normal adults. It's not that anything is 'wrong'.. and they do tend to grow into their tongue, the strawberry marks go away, etc... BUT.. They have a much, much more significant risk for getting cancer. From what I've read, most are treatable cancers.

There's only about a 1 in 14,000 chance of having this. Most of the pictures are horrifying.. Aeson certainly doesn't have it to the degree some do, if he has it at all.

I called his doctor.. wondering why on earth nothing had been said when to me he clearly has the majority of the characteristics. Children who have it are to be continually monitored for tumors as well (every 3 months until age 8 or 10 is what I read I think-- after that, the risk is very minimal). She finally called me back today herself. She said that she had considered it, mainly because of his tongue but that she hadn't seen any of the other characteristics (besides now the hernia). She said that he wasn't abnormally large for 36 weeks, he didn't have low blood sugar (but then when I asked if that had been taken, she said they 'usually' did and sounded like she was then looking for it.. I'm not sure they did with all his complications), and she specifically looked for the other physical characteristics at the last appointment- not seeing any. She said she was going to wait until the next appointment to see how much he grew and things like that before saying anything. But.. since I beat her to it and we'll all be worried about it now, she said we would start the testing. There is no definitive test.. but we'll start with bloodwork and go into deeper genetics testing if needed. So, after work today, he'll be going for his first bloodwork.

My thoughts on this? First, of course, I'm scared to death. At first I was handling it pretty well.. only about 7% or so of children with this actually get cancer I read.. but man, he and we have had so many things happen where the chances were even smaller than that already. I'm not going to think too much about that part yet.. just take it one step at a time.. Something I am going to have to learn to deal with is the constant testing if it does come to that.. Not only because he'll have to endure different types of examination (blood, ultrasound, etc) on a regular basis but because the outcome could be different at any one of the times. Like I said on facebook, I'm pretty certain I can handle just about anything, though.

I'm now scared for future children.. It's not supposed to happen to subsequent children, but it worries me that Westen had one characteristic (I wonder now if he should be monitored too...) and then Aeson had several.. I worry that it will get worse with other children, and I just couldn't do that to them.

On the positive side, I see now why maybe it was a good thing my family was talking about it.. After all, it lead me to researching it and is resulting in this earlier testing. I'm also very thankful that I was so insistent on breastfeeding this time and so determined to continue it.. That's gotta help, right? When things like this happen, you see the reasons for things you never did before.

Please pray for him.

Sort of a tiny treasures post but a regular one in there as well!

The life of a nursing mom of two is the busiest life ever, I SWEAR! It is so hard to find the time to do anything. I'm in my third week back to work.. I get up earlier than I ever did before, in order to get ready, get everyone taken care of, nurse, and drop the kids off at daycare before going to work.. then I leave work mid-morning to go nurse Aeson.. back to work to eat lunch.. pump in the afternoon.. finally get off work to go pick the boys back up.. and then all Aeson wants to do in the evenings is nurse! I'm lucky to get enough time to make dinner (something Eric never does) and get things ready for the next day. It is absolute craziness. I haven't been able to clean house since I've been back to work and while Eric tries to help, it seems like I always have to nag at him.. and not enough gets done. And exercise? NO time for that! Aeson turned 12 weeks yesterday and my weight has been at a standstill for quite some time now. I have about 10lbs I have to lose to be at my pre-pregnancy weight, and I'd like to lose more. (I'd gained some just before getting pregnant) But I seriously cannot fit that into my day. I'm trying to just relax and have patience.. Right now, my main job IS giving that little baby all his nutrition.. I just have to wonder when it will ease up a little. I guess the big thing is that it just becomes very hard to have 'me' time when you have multiple kids! Because even if I do have time, I try to give Westen one-on-one since he rarely gets that anymore. I feel bad that he has kind of taken the back burner but again, I try to remind myself that this won't be forever.

On the positive side, oh how I love to feed my little Aeson. We kicked the shields (on his own!) and he is nursing perfectly now.. no problem! I love when he starts to fall asleep but when I talk to him, his eyes fly open. I love how he can nurse all night as he pleases now and I'm still able to get my sleep! I love how it's something that's beneficial for him AND for me.

Aeson is getting SO big. 3-6 month clothes are getting small on him already. We weighed him on Sunday at my in-law's, and we believe he's around 14lbs,14oz. We tried the cloth diapers for the first time over the weekend and love them!! I was pleased to realize that they really do work just as well as disposables.

We also went to a baby shower for my sister-in-law this weekend, and one of the aunts got after me in front of everyone! I was pretty embarassed. They were asking about Aeson's sleeping, and somehow I just had to say that he sleeps with us (even stating that I KNOW some people have strong opinions about it).. and I was told very strongly NOT to do that. She said she knew someone who rolled over on their baby and killed it (well, she said, they didn't know if it was the mom or dad). Okay, now hopefully, hopefully I will NEVER have to experience anything like that.. AND I could be wrong here.. but I've done my research and I KNOW myself. I sleep very lightly and even the slightest fussing wakes me up. I really believe I would never, ever roll on top of something and NOT know it. I actually don't even move in my sleep because I'm always right in the place where Aeson can eat as he wishes. I've never rolled on Westen when he was sleeping with us.. on cats when they've been in bed with us.. etc. From the books I've read, women have co-slept for centuries.. here and in other countries. I also take precautions like holding the blanket IN my hand and down around Aeson's waist, so there's no chance of it going over him. Not to mention it's not a heavy blanket and he FREAKS out when stuff is over his head (a battle every morning! :)). Anyway, it's nothing I would ever recommend for other people because they have to know themselves and be comfortable with whatever they do, but it works for us and I really (god forbid) think it will be fine. I didn't say all of this to her, though, not wanting to cause a scene. I hate it when people try to impose their beliefs onto you... especially in such a forceful manner.

Anyhow, Aeson is SO smiley these days. He's most happy in the mornings. I love love love to see his face break out into a big grin at the sound of my voice. Even today at daycare, he was crying when I got there (where's my mommy to feed me?!), and as soon as he heard my voice, he quieted. While he is still a fussier type child, he has definitely gotten better and has definite periods of wakefulness and contentedness. I don't know how but he also always seems to 'know' when there is something important that I want him to be quiet for! :) And he's perfect at those times. I still always stress beforehand, though. :)

Another thing that I haven't mentioned yet is that Aeson has a large tongue for a baby. It's not causing him any difficulty eating or anything like that, and the doctor said that some babies just have that and they always grow into them. :) However, my family will not stop talking about how something might be 'wrong' with him. It drives me CRAZY. Clearly, he was in the best hospital around here for TEN days after his birth.. a hospital where they gave other babies diagoses of Down's etc.. and no word about him. He's clearly met all his milestones so far and appears to be JUST like other babies.. just with a tongue that is often visible and he's often playing with. It even looks like he tries to move it like ours when we talk.. so funny! Now clearly, again, I have no way of knowing if there IS something we don't know about but I honestly don't believe there is.. and I just wish people would stop talking about it! Even if there was something, who cares??

Boy, I'm ranting today. :) Had lots to write about!

Westen's adoption was final on October 14. Eric and I went to court, and he is now legally his daddy. :)

Hope everyone has a good Halloween!

Tiny Treasures Tuesday: 10 weeks

Aeson
Well, this week Aeson slept 7 hours two of the nights! I, of course, didn't get that much sleep.. as I was waking constantly to check on him.. but it was still nice. :) The past two nights haven't been as good.. He's a little congested, so I'm not sure if that's part of the problem or if he was sensing that he wouldn't have me all to himself starting today. :) He also started falling asleep on his own this past week.. without crying or eating or anything!

Last week, we got him one vaccine. I did soooo much research on it. I was a mess! We finally decided to go with one vaccine at a time and to start with the one with the least side effects and the one that is most risky if you acquire what it's protecting against (HIB). He did really well, only crying for the few seconds the serum was being pushed into him. There are several vaccines I'm not going to do at all (MMR and any live vaccine-- such as the rotavirus), and I'm still undecided on the rest. The whole 2-4 month increase in SIDS risk scares the heck out of me, so I think I'm going to try to wait as long as possible. I've talked to several people who know others who were never vaccinated and perfectly fine too.

Westen
This was Westen's last week at home before starting back to daycare part-time. He's been helping make dinner when he can, and this weekend we made pumpkin sugar cookies. He LOVES doing stuff like that. This past weekend was also a skate party for his daycare. It was his first time skating! He really, really liked it, although he rarely let go of mine or Eric's hand. He's been saying since that he wants to go back. The skating place is still exactly like when I was younger. He had a blast skating and playing the arcade games they have there- particularly because his best friend Kaden was also there! Afterwards, he got to pick a prize and he chose a little plastic fish. He insisted on putting it in a bowl of water when we got to Grandma's afterwards (for pizza with the fam!). He'd wanted to put it in our big (real!) fish tank at home. :)

I think Westen was well aware the transition to school was occurring as well.. Last night, he continued to come in our room after bedtime saying 'I just love you Mommy' and 'I just love you Daddy.' He also told me earlier in the day, when we were discussing the return to work/school, that Aeson was going to miss me. :)

Westen also did the cutest thing this week.. Aeson was lying in his bouncy seat while I was getting ready and Westen decided to come in and read to him! I didn't even mention it.. he just did it! He's SUCH a good big brother. I got a couple pics I'll have to post next time.. I haven't had the time to upload them and get them on here!

Tiny Treasures Tuesday hosted by Lerin at mycatholicfamily.blogspot.com

Preparing for work

I go back to work on Tuesday. This morning, when I woke up, I thought.. "two more days.." Now it is just barely over one. :(

The latter part of this week and the weekend were spent preparing for it.. laundry done, everyone's clothes laid out for the week, groceries bought for lunches, and I've been reading Hirkani's Daughters in preparation for the scheduling. It's about women who work and breastfeed- It's all real women's stories, and it's very helpful! I probably won't always be this prepared, but it certainly will help for the first week!

The only thing that I'm lacking is new clothes. :( Besides it being fall (and cold, cold weather already here!) and wanting to go shopping for that reason, I'm also stuck between my clothes. About two pairs of my pre-pregnancy pants fit. The others are still too tight, and my maternity clothes are too big. Hopefully I can find enough to wear. The pre-preggo pants fit everywhere but the tummy.. hopefully that'll continue going down over the next couple of months. I'm not TOO far off from it.

Westen and I baked orange pumpkin sugar cookies yesterday. Today I made almond bark pretzels. My dad also gave us a straw bale this past week, and we got four pumpkins to put around it. I love this time of year.

Another big thing I'm dreading about work (can you tell it's very much on my mind?!) is my car in the mornings! The heat doesn't warm up until you've been going over 30mph for several minutes. Since the daycare is here in town, I really don't go over 30 at all.. and it's only minutes away. If I start the car earlier, it still doesn't warm up. It's very aggravating, and I'm worried about it with my poor little baby! I don't want him to be cold. I'll have to have it looked at, but I've heard it's something Chrysler's do.. and even that will have to wait until we have the money to do so. We went through all our savings during my leave and what we have now is saved for Christmas. Maybe something will work out...