Wednesday, August 3, 2011

Update No. 1.....

Once again, we have waited entirely too long to post any sort of update. And there’s a lot to update! We won’t do it all today, since there is so much, so be sure to check back for our other updates! (And since we are woefully behind on any pictures, I’ll just post a few random ones today)

First of all, WE’RE PREGNANT! I think most of our friends and family already know that, but it’s still worth announcing on here, I think =)

Our “due date” is December 10th, and so far things have been going well! I had some pretty bad morning sickness for a while. Luckily, I’m not one to throw up, so there wasn’t any of that, but those of you who have experienced morning sickness know how debilitating it is, even when you aren’t actually throwing up. It was pretty awful, but the worst is past now, and things are going great.

We ended up choosing to go to a birth center close by, in Rigby, and so far, it has been the best choice EVER. After our experience in the hospital with Noah and the C-section, I knew that I wanted to keep away from the hospital, if at all possible, and birth completely naturally, VBAC and no interventions. And the center has been amazing! Every time I’ve come away from an appointment there, I’ve been so incredibly happy and excited, and the midwives are so wonderful – I’d recommend it to anyone in a second.

I am about 21 weeks along, but we won’t know the gender for a while. Because I am doing a VBAC, the birth center does an ultrasound at 36 weeks, to check for breech positioning, where the placenta is attached, etc., so that we can know what’s going on to prepare for the VBAC. That being said, the standard 20-week ultrasound isn’t strictly necessary for any reason, so if we want to have an extra ultrasound earlier than 36 weeks, s
o that we can know the gender, we have to pay for it out of pocket. So, we’ll be doing this the old-fashioned way for a while, staying in the dark as to the gender. But still hoping for a girl =)

(While I do have some strong opinions about birth, I’m not going to get into them here, so if you’d like to hear more about what they are and why I’m choosing to birth this way, feel free to ask me elsewhere =))

Scott graduated in April (yippeeeeeeeeeee!!!!!!) so this summer has been great, having him home all morning for the first time…..uh, ever….so we’ve been able to actually have some time together as a family. We’ve had a lot of trips to Utah and family vacations, and we’ll update on those later. There’s too much to talk about on one blog post.

One thing that we want to mention: please take a look at the ad, on the right of the page, for Vivint. and the facebook contest that they are holding. They have a contest among various charity organizations around the country. Each region is competing within itself for a $100, 000 prize (cash). The Utah Prader-Willi Syndrome Association is a branch of the national Prader-Willi Syndrome Association, and they have been soooooo wonderful accepting us and Noah, and helping us to get all the help and support we need (and will need). The UPWSA won last year – it’s all done by voting on facebook, each and every day. The money is used to help with research and the enable the members (us) to meet with the various specialists that we need to, who can be quite expensive, as well as other important things. Funds like this are pivotal if organizations like the UPWSA are going to achieve their goals of helping and suppor

ting their members. If you are on facebook, please add us as friends, take a look at how to vote, and please help us get the votes that we need to win this! We are so close, and voting ends August 27th. Thank you soooooo much!!!!

Check back soon! We’ll keep posting more frequently for a while, since we have so much to catch up on – love you all!

Saturday, March 26, 2011

Big News for Noah

Prepare yourself, this is a long post…..

We know that it has been almost sinfully long since we’ve updated the blog. It’s really my fault, since I’m at home all day with Noah while Scott goes to school and works. But we’ve just been busy with a lot of things, that it kind of gets stuck at the bottom of our to-do list.

However, there have been some things going on with Noah that we feel need to be shared. I promise to put together an update on our entire family, soon, but this is more important.

As most of our family and friends know, we’ve had a lot of struggles with and concerns for Noah’s development, starting from birth. We struggled through a year and a half of not knowing or being taken seriously. Last November, I finally took some initiative and got in touch with the Infant Toddler Program (and it wasn’t easy, believe you me). It’s Idaho’s early intervention program. They have been simply wonderful – an answer to prayer. They came and did a full developmental assessment of him in November, and since then, things have been in full swing.

We have been working with a developmental specialist a few times a month, and she has helped us get in touch with a physical therapist that we’ve seen a few times. He will also soon be seeing an occupational therapist (other than the one at the hospital that we’ve been seeing since day 1) for an assessment of his oral motor skills, and hopefully, a speech therapist will be introduced soon, as well.

He’s been a part of the toddler-lab here at BYU-Idaho during this winter semester, which has been awesome. Not only do we get the break twice a week (a much-needed one), but he absolutely loves the interaction with the other toddlers, as there aren’t many kids his age in our ward or complex. They work closely with the Infant Toddler program, so they are great in helping him with his developmental delays, as well. And, we’re pretty sure that he will be able to participate again during this next spring semester.

Our service-coordinator helped us to arrange a couple different visits down at Primary Children’s Hospital in SLC to get some medical information flowing. First, we went to see an opthamologist for his crossed eyes. We took him to an optometrist here in Rexburg last year, and they put him in glasses, but there hadn’t been any improvements after six months. At Primary they got him the correct prescription, and it has worked wonders! Everyone at the toddler-lab immediately noticed huge differences in his focus and ability to participate. We still have a ways to go, but it has been great. We’ll be going down there again in May to check his progress.

Second, we went to see the pediatric neurologist at Primary. He was/is a wonderful doctor. That’s a rare occurrence, I’ve come to realize. He did an assessment of his developmental delays, and asked us a whole bunch of questions. Long story short, he asked us to have an MRI done, as well as two blood test for some more specific problems. The MRI is scheduled for May, after his opthomology appointment. The blood was taken about a week and half ago, and on Friday, we got the results.

Noah tested positive for Prader-Willi Syndrome (pronounced “praw-der willy”). Some of the people that we’ve talked to already knew what it was, but I had no idea what it was. It’s a rare genetic disorder that affects about 1 in 15,000 births, resulting from the deletion of certain genes from chromosome 15. There is a lot to it, and it’s a very life-altering syndrome, both for Noah and for us. The most severe problem is hyperphagia (compulsive hunger). The condition causes problems with the hypothalamus, where they cannot tell that they are full, and are obsessed with food and eating. It’s a serious cause of morbid childhood obesity. It’s not very commonly known within the medical field, as far as I can tell, which would explain why our doctors never thought to test for it, or took our concerns seriously. Reading about it is like reading about Noah – he has so many of the characteristics (for his age), it’s almost surreal how obvious it is. I asked our neurologist about the accuracy of the test, but he said that it’s at least 99% accurate. Sometimes they will do additional testing, but it’s usually not necessary – the symptoms speak for themselves and support the test result completely.

If you’d like to check out more about it, this is a really great site: They have SO much information about it, in just the little that I’ve looked at so far. Go to the Be Informed tab, and check out the links at the bottom. There is a lot more to it that the very little that I have explained, especially when it comes to the future. Even the Wikipedia site is great, and gives a good rundown on the syndrome.

It looks like we have a very long road ahead. I don’t want to get too discouraged by it, because only time will tell how severely he will be affected, and we have been extremely blessed to be finding this out now, and not in two years, or ten. There is no cure, but there are interventions that can help us to keep it in check. The main one is administration of growth hormone, to help him gain muscle mass, which will help with his metabolism and his ability to grow (height). Otherwise, it will mostly be hard work on our part to condition ourselves in strict patterns of exercise, healthy eating, portion control, routines, etc., so that we are ready for his future problems with eating, which are almost guaranteed to come.

For now, things are going great. The hyperphagia hasn’t hit yet, so we have some time to research and prepare. It usually hits around 2-3 years old, from what we’ve read. He is still the most lovable, sweet, kind, and smiley little boy in the world. He is walking all over the place, close to running, signing a lot, and improving every day. If anything, Scott and I agree that our love for him has increased dramatically with this knowledge. We are so blessed to have been entrusted with his care, and while the road ahead will be a difficult one, it will also be a joyful one. We love you, Noah!