Today's been a rough day in some ways. William is still getting used to the growth hormones...and to being two. The growth hormones are causing some moodiness (read naughtiness) with him. I try and keep perspective thinking how I was when I started birth control. I don't think I was the nicest person either. However, William crossed the line today. At lunch he threw his hamburger at me, and then his sippy cup. And then the high chair tray. And so off he went to his very first time out. I put him on my bed and he got down. I put him back on the bed and turned around but still stood in there. Once he was done I asked him if he would be nice. I'm not entirely sure he got it, but he knew he was in trouble.
But we also got some laughs today as well. Lucy (who, for some reason doesn't like wearing clothes) was wiping her belly and looked down and noticed her nipples. She said "What's that?" I told her it was a nipple. She said "a nickle?" a nipple "stickle?" nipple. "sniffle?" nipple. "pickle?" nipple "A SNICKLE!" Okay...a snickle.
And it appears that William inherited my grace. After talking to Grandma and Grandpa on Skype, he wanted to come say good-bye. He was in the office and somehow ran straight into the door that was open. Poor little bugger. He'll probably have a black eye from it. I swear, with all the therapists that come into our house and all the bruises the kids get, I'm surprised we haven't had CPS called yet. I'm just glad the therapists understand toddlers.
Oh...and we did have a victory. Lucy went "peep" in the potty. After our friend's birthday party this Saturday we're hitting it hard. My goal is to have her completely trained by the time we go back east this spring. And I won't actually be surprised if Will ends up being potty trained too. Course...now that I think about it, maybe we should wait until we have a washer that works. Yeah...gonna hit it hard Tuesday.
Thursday, March 24, 2011
Wednesday, March 23, 2011
The Pickles
Lucy has become very verbal lately. GRANTED she doesn't talk to people she doesn't know, or knows fairly well, other than Lee and I, but she's getting better.
Today she said out of the blue to me. "Grandma's sick, and Grandma T's, sick...and Grandpa has the pickles!! He has a cough." Took me a second, but then I realized that she meant the sniffles.
I think having the pickles may be in our vocabulary from here on out.
Today she said out of the blue to me. "Grandma's sick, and Grandma T's, sick...and Grandpa has the pickles!! He has a cough." Took me a second, but then I realized that she meant the sniffles.
I think having the pickles may be in our vocabulary from here on out.
Thursday, March 17, 2011
Yay for progress!!
Will's been in therapies since he was about 6 months old. He started with Physical Therapy and Early Intervention. Then we added Occupational Therapy and Speech Therapy. He graduated Occupational Therapy...I don't think he was ready to, but we weren't gelling with his OT. And about a month ago he graduated from Physical Therapy.
When we first started with Speech Therapy we had an amazing therapist. She was kind to Lucy and William was making huge strides. But she had stop being our therapist because she was finishing her doctorate and her school told her she needed to spend more time there. And so we got our next speech therapist.
She was awful. Absolutely awful. She sat on the ground and did absolutely nothing other than talk to him and read him books. I was doing more myself than she was. On top of that, she was consistently late. By almost an hour most of the time. When she got here, she complained about all of her other clients to me (Makes you wonder what she's saying about us, no?), would spend the whole session complaining about how little money she had, talk about her daughter and grand kids (which I'm all about...unless it means you're not working with my son) and show me how big her pants were from Weight Watchers. Once or twice yeah....but it started to get uncomfortable. And the icing on the cake? She was kind of mean to Lucy, expecting her to sit on the couch and just watch instead of playing too. Lucy's too close in age and to young to understand that new toys are only for William. When I told her J was coming for speech therapy she would say "I'm scared of J".
So last week we talked to company that provides our speech. And they offered to switch our speech therapist for us. Turns out I'm not the only one complaining about J. We met with our new speech therapist, Linda, today. She's absolutely wonderful!! The kids were both playing with her within a couple of minutes. She doesn't just sit there and say "say this or that", she emphasizes different sounds and shows him how to say things. I love love love love love her. Since we only have 6 more months of therapies, I'm so grateful to finish off his speech with someone that will do the most good.
When we first started with Speech Therapy we had an amazing therapist. She was kind to Lucy and William was making huge strides. But she had stop being our therapist because she was finishing her doctorate and her school told her she needed to spend more time there. And so we got our next speech therapist.
She was awful. Absolutely awful. She sat on the ground and did absolutely nothing other than talk to him and read him books. I was doing more myself than she was. On top of that, she was consistently late. By almost an hour most of the time. When she got here, she complained about all of her other clients to me (Makes you wonder what she's saying about us, no?), would spend the whole session complaining about how little money she had, talk about her daughter and grand kids (which I'm all about...unless it means you're not working with my son) and show me how big her pants were from Weight Watchers. Once or twice yeah....but it started to get uncomfortable. And the icing on the cake? She was kind of mean to Lucy, expecting her to sit on the couch and just watch instead of playing too. Lucy's too close in age and to young to understand that new toys are only for William. When I told her J was coming for speech therapy she would say "I'm scared of J".
So last week we talked to company that provides our speech. And they offered to switch our speech therapist for us. Turns out I'm not the only one complaining about J. We met with our new speech therapist, Linda, today. She's absolutely wonderful!! The kids were both playing with her within a couple of minutes. She doesn't just sit there and say "say this or that", she emphasizes different sounds and shows him how to say things. I love love love love love her. Since we only have 6 more months of therapies, I'm so grateful to finish off his speech with someone that will do the most good.
Wednesday, March 16, 2011
The Beginning of a New Era..from one long ago started
We've known from the day William was born there was something wrong. He was whisked straight to the NICU and spent the first month of his life there. The first night they told us that he was disproportionate. We had no idea what that meant and it took us almost 3 weeks to find out what that meant from the doctors. It's a sign of dwarfism. I know now that they didn't tell us what was going on because there are several forms of dwarfism that are lethal.
He stayed in the NICU for as long as he did because he couldn't quite muster the stamina to eat on his own. But even then he was a ladies man. He was grinning at the nurses at 12 hours old. If he had been there any longer we would have bought him a onesie that said "Hellooooo nurse!" He had a girl friend in the next crib over. They were born the same day at almost the same time. She was born 7 weeks premature, and was much sicker than he was. Whenever she cried his heart rate went up. It seemed that they had connection from before. Once she went home, he was out of there within a few days.
Once he was able to eat on his own they found he had apnea when he was eating and sleeping. So they sent us home with an apnea monitor. It was a very high pitched screaming device that went off over everything. I think we had two actual alerts and dozens of false alerts a day. We had that for 6 months. Even the cats were losing patches of hair by the end of it.
Our first appointment to figure out what was going on was in February. We went to the geneticists at UCLA. It happened that the day we went they were having a conference on dwarfism. So we met with several different doctors that day that all gave their opinions. It seemed that day that we were dealing with Achondroplasia or Hypochondroplasia. They are the most common forms of dwarfism. So we had the first blood test run. And with UCLA we had several after that. But no matter how we tried, Achondroplasia just wasn't fitting him. And so we were referred to the pediatric genetics department at Cedar's Sinai, because 1 - they didn't know why he was disproportionate and 2 - he wasn't growing at a normal rate.
Cedar's has been the biggest blessing I can imagine. The doctors we have there are some of the best in the world. Whenever I'm reading studies, our doctors names come up. It's been frustrating, though, because nothing has really been found out. We've ruled out all kinds of things. Kabooki Syndrome, Achondroplasia, and a whole bunch of other things that I can't pronounce. You would think that one blood test would be able to tell us what's wrong. But, from what I'm learning, it's more like a Sears Catalog. If you go to the housewares department to order a lamp, then you'll see lots of lamps. But you won't see a lawnmower. So these genetic tests are very specific in what they're looking for. Which means that we've run tons of tests, and come up with nothing, and there are still tons of tests that potentially could be run.
However, a couple of tests have had results that have given some results. We had an MRI that ruled out hydrocephalus, and a brain tumor. And gave us a view of his pituitary gland. We were happy to get negative results there. :) And we also met with a cardiologist that told us his heart was completely perfect. Another happy appointment. And we have done tests on his IGF levels. IGF's are proteins that bind together the natural growth hormones in each of our bodies. Will's IGF levels are very very low. This helps explain why he's not growing. However, we don't know WHY his IGF levels are low. Once we can finally get a diagnosis that should put all the whys to bed, or at least most of them.
But I feel like we're getting close. We've had both our dysmorphologist and our pediatric endocrinologist tell us they think it's Noonan's Syndrome. In the little research I've done, this seems a very real possibility. There are four genetic tests for Noonan's. On the first test 50% of Noonan's patients will manifest. The second one has 25% of patients manifest and then 15% and then 7%. However, some Noonan's patients just don't show up on the genetic tests. We will run the first genetic test at the end of this month.
The other thing that we've started is growth hormones. Because we know his IGF levels are low, he was a candidate for them. Lee and I have really gone back and forth on whether or not this is something we should do. Growth hormones mean an injection every day....at least until he's done with puberty, but potentially the rest of his life. They are also very expensive. It's been a difficult decision, but once we learned without them he wasn't even going to hit 5 feet, we knew we had to give him the best chance at a normal life we could and this was something we had to try.
We started the growth hormones about 3 weeks ago. We were approved through the insurance for a needle free version. It's a subcutaneous administration. Basically, it's a high powered stream that's shot through a very small hole through his pores.
It's been kind of hard to get the injections correct, but I think we're starting to get it figured out. And William is being a super good sport about it. He just holds still and says owie
And so, after two and a half years of stagnation, we are finally moving forward. It's moving really fast and is, some days overwhelming. But I'm happy to *hopefully* be close to an answer.
He stayed in the NICU for as long as he did because he couldn't quite muster the stamina to eat on his own. But even then he was a ladies man. He was grinning at the nurses at 12 hours old. If he had been there any longer we would have bought him a onesie that said "Hellooooo nurse!" He had a girl friend in the next crib over. They were born the same day at almost the same time. She was born 7 weeks premature, and was much sicker than he was. Whenever she cried his heart rate went up. It seemed that they had connection from before. Once she went home, he was out of there within a few days.
Once he was able to eat on his own they found he had apnea when he was eating and sleeping. So they sent us home with an apnea monitor. It was a very high pitched screaming device that went off over everything. I think we had two actual alerts and dozens of false alerts a day. We had that for 6 months. Even the cats were losing patches of hair by the end of it.
Our first appointment to figure out what was going on was in February. We went to the geneticists at UCLA. It happened that the day we went they were having a conference on dwarfism. So we met with several different doctors that day that all gave their opinions. It seemed that day that we were dealing with Achondroplasia or Hypochondroplasia. They are the most common forms of dwarfism. So we had the first blood test run. And with UCLA we had several after that. But no matter how we tried, Achondroplasia just wasn't fitting him. And so we were referred to the pediatric genetics department at Cedar's Sinai, because 1 - they didn't know why he was disproportionate and 2 - he wasn't growing at a normal rate.
Cedar's has been the biggest blessing I can imagine. The doctors we have there are some of the best in the world. Whenever I'm reading studies, our doctors names come up. It's been frustrating, though, because nothing has really been found out. We've ruled out all kinds of things. Kabooki Syndrome, Achondroplasia, and a whole bunch of other things that I can't pronounce. You would think that one blood test would be able to tell us what's wrong. But, from what I'm learning, it's more like a Sears Catalog. If you go to the housewares department to order a lamp, then you'll see lots of lamps. But you won't see a lawnmower. So these genetic tests are very specific in what they're looking for. Which means that we've run tons of tests, and come up with nothing, and there are still tons of tests that potentially could be run.
However, a couple of tests have had results that have given some results. We had an MRI that ruled out hydrocephalus, and a brain tumor. And gave us a view of his pituitary gland. We were happy to get negative results there. :) And we also met with a cardiologist that told us his heart was completely perfect. Another happy appointment. And we have done tests on his IGF levels. IGF's are proteins that bind together the natural growth hormones in each of our bodies. Will's IGF levels are very very low. This helps explain why he's not growing. However, we don't know WHY his IGF levels are low. Once we can finally get a diagnosis that should put all the whys to bed, or at least most of them.
But I feel like we're getting close. We've had both our dysmorphologist and our pediatric endocrinologist tell us they think it's Noonan's Syndrome. In the little research I've done, this seems a very real possibility. There are four genetic tests for Noonan's. On the first test 50% of Noonan's patients will manifest. The second one has 25% of patients manifest and then 15% and then 7%. However, some Noonan's patients just don't show up on the genetic tests. We will run the first genetic test at the end of this month.
The other thing that we've started is growth hormones. Because we know his IGF levels are low, he was a candidate for them. Lee and I have really gone back and forth on whether or not this is something we should do. Growth hormones mean an injection every day....at least until he's done with puberty, but potentially the rest of his life. They are also very expensive. It's been a difficult decision, but once we learned without them he wasn't even going to hit 5 feet, we knew we had to give him the best chance at a normal life we could and this was something we had to try.
We started the growth hormones about 3 weeks ago. We were approved through the insurance for a needle free version. It's a subcutaneous administration. Basically, it's a high powered stream that's shot through a very small hole through his pores.
It's been kind of hard to get the injections correct, but I think we're starting to get it figured out. And William is being a super good sport about it. He just holds still and says owie
And so, after two and a half years of stagnation, we are finally moving forward. It's moving really fast and is, some days overwhelming. But I'm happy to *hopefully* be close to an answer.
Sunday, March 6, 2011
Welcome to blogging....
I've started this blog because the kids are far too cute and I'm afraid I won't remember things the way I want to. Even a couple of weeks later I can't remember the things that made me laugh so hard. And I want to be able to give my kids a way to see what was going on in our heads when they were small. Also, this way our family and friends will be able to keep up without having to be on the phone with me. :) And so, welcome to our blog. I hope there will be several more blogs to come.
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