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Saturday, August 30, 2008

New CF Drug to be Promising

I came across this through the cff.org site and thought I would share it with everyone...

Researchers in Israel have found that a new drug for cystic fibrosis, PTC124, is able to bypass the genetic defect in the protein-making machinery of patients and improve the functioning of weakened cell membranes. The results in published in an upcoming edition of The Lancet.

Dr Eitan Kerem (Hadassah Hebrew University Hospital, Jerusalem, Israel) and colleagues note that 10% of patients worldwide and over 50% in Israel have cystic fibrosis that is due to premature "stop" signals (nonsense mutations) in genes responsible for the cystic fibrosis transmembrane conductance regulator (CFTR). It is the CFTR that creates the protein channels crossing the cell membrane that permit chloride ion transport. The premature signals are defects that result in dehydration of the mucus encompassing the body's epithelial cells (cells that line the cavities and surfaces of structures throughout the body), and the outcome is chronic inflammation, respiratory problems, repeated infections, and usually death at an early age.

The new drug, PTC124, was created to allow the CFTR pathway to function normally by allowing the protein-making machinery to avoid or bypass the premature stop signals. In the phase II trial described here, researchers studied 23 patients who received PTC124 in two cycles. Each cycle consisted of three PTC124 doses per day for two weeks followed by two weeks without treatment. The dose in the first cycle was lower than the dose in the second. The researchers measured drug efficacy by measuring tiny voltage changes across the nasal epithelial cells, informing improvements in chloride ion transport through the cell membranes.

Twenty-three patients received voltage-change measurements in the first cycle and 21 were available in the second cycle. In the first cycle, the average total chloride ion transport increased (noted by a -7.1mV change), and in the second cycle there was a lesser increase (noted by a -3.7mV change). In 16 of 23 patients after the first cycle, there was a response in total chloride transport (a change of -5.0mV or more); 8 of 21 responded to the second cycle. Thirteen of 23 patients in the first cycle achieved the normal range of chloride ion transport, and 9 of 21 in the second cycle did as well. Accompanying the voltage changes, PTC124 use was linked to small increases in lung respiratory function and bodyweight in most patients. In addition, the drug was associated with a reduction in immune system cells that respond to inflammation called neutrophils. Other side-effects included decreases in lung-related symptoms (such as cough), constipation without intestinal obstruction (2 patients), and mild dysuria or painful urination (4 patients).

"This trial exemplifies the concept of personalised medicine: integrating selection of patients with a specific genetic defect, use of a treatment designed to overcome that defect in gene expression, and direct assessment of protein function within disease-affected tissues...The further development of PTC124 could offer a practical means to address the underlying cause of disease in patients with nonsense mutations as the basis for cystic fibrosis," conclude the authors.

An accompanying comment written by Dr Stephen Hyde and Dr Deborah Gill (UK Cystic Fibrosis Gene Therapy Consortium and Nuffield Department of Clinical Laboratory Sciences, University of Oxford, UK) note that the way in which PTC124 specifically prevents nonsense stop signals in the CFTR gene without interrupting the body's genuine stop signals is remarkable. The researchers maintain that these positive findings should warrant future placebo-controlled trials of PTC124 in the future.

Let's pray this leads to a CURE!
M

Calling All CF Moms!!

It's been awhile since our last CF Mom meeting, mainly due to my nausea b/c of the pregnancy. So, I'm finally starting to feel better and thought it was time to do another CF Mom meeting! I already talked to Daniel's mom and she is all for it! Now I just have to get a hold of the other moms and decide which day would be best and where. Hopefully we can start strategizing for next years Great Strides Walk too, since we are going to start one here in our town. YEA!!
I'll keep you posted,
M

He Loves His Swing!

I had to share this one with you. He just looks so cute the way he is holding onto the swing! I love his lil' laugh too. It makes me laugh:)


M

Friday, August 29, 2008

Look Who's Walking!!

Lil' Chris has finally started walking! YEA! Only took 14 1/2 months. He loves to walk all over now. He even just walks in circles around the living room! It's so cute! He still falls on his butt every now and then. He doesn't watch where he steps, so he tries to walk over things and then he falls down. He'll get the hang of it:)
Sometimes he gets more interested in WHAT he is walking on, then walking itself. You'll see in this video. We were at a park and they had lil' wood chips to walk on.


In this one, he almost started to run toward me! At the end, you can see my big baby belly..it's the big grey bump at the bottom of the screen.


This was when we got back from the park. Again, you can see my belly at the end... it always gets in the way now:)

M

Thursday, August 28, 2008

A New Antibiotic

Look at how BIG this bottle is! I just had to do a comparison:)
Remember this post....well, his cough never did go away. So I called on Monday like they said, but played phone tag for 2 days with the CF nurses. Then we got a call on Wed asking us to take him in as soon as possible to do a throat culture. The doctor wanted to see what, or if, any bacteria was growing on his lungs. So we went after work and did the throat culture. Our favorite CF nurse was there and did it. I was so happy, b/c she is so nice and gentle(she just happens to have the best name in the world too, my name:) Lil' Chris usually cries for a little bit after getting his cultures, but this time he barely whimpered! She was so gentle. I wish she could do it every time!


The results won't come back until Monday, so the doctor prescribed an antibiotic in the meantime. If the throat culture comes back and he has grown a bacteria that needs a different antibiotic to get rid of it, then he will change his prescription to whatever he needs. But for now, he is on something new...Sulfatrim. It came in a HUGE bottle and it doesn't need a refill and it doesn't need to be refrigerated! Only problem is...Lil' Chris hates it. But he has only had it once so far, so hopefully he'll get used to the taste since he will be on it for 21 days unless they change the prescription. He has to take 2 teaspoons twice a day. That's a lot to try to get down his lil' throat when he keeps pushing it away:(


I'll let you know the outcome of the throat culture when we get it back on Monday.

M

Tuesday, August 26, 2008

Gate Pics

Lil' Chris loves his gates! He likes to throw his toys over them. He especially loves to crawl thru the white gate when we leave it open. He likes to play with the door too. He just swings it back and forth...it's a toy to him:)


M

Sunday, August 24, 2008

First Beach Trip

We had sooooooo much fun on vacation! We went to the beach for the first time with Lil' Chris!

He loved the water. He and Pop had lots of fun jumping the waves:) Thanks Pop for coming and spending the day with us, we had a BLAST!

He also loved playing in the sand and making sand castles with Daddy and getting his feet buried:)

We put lots of sunblock on him and made him drink plenty of water. We can't wait to go back next year with both kids:)
M

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Thursday, August 21, 2008

Speech Therapy and the rest of the clinic visit

Ok, I finally have time to talk about the speech therapy class we had at the clinic on August 6th. Actually, it was more like food therapy class. The only thing they did about speech, was ask us how many words he knows. We said 5-10 and he knows the word "more" in sign language.

Dadda
Mamma
Yea
Baby(and he points to my belly:)
EIEIO
Oh
Uh oh

The rest of the visit was all about eating. They had a highchair for him to sit in, and then she brought in a tray full of different things for him to try to see if he would eat them. I guess they did this b/c he can't take the Pediasure and we can't keep him on formula forever. Plus, he can't keep eating baby food forever either, even though he only has 4 teeth still(those other ones just won't come in).

So they tried crackers, pudding, cereal bar, mashed mac and cheese, and I forget what else. He did well with all of them. We've tried things like this before too at home, and he does well at first, but then he starts gagging on it or just pushes it away and won't open up for it. They didn't do it long enough to see any of that, so it was pretty much a waste, but we keep trying them at home. Hopefully he'll come around soon, b/c he is starting to not want his formula and usual baby food anymore. I guess he realizes now that there is better stuff out there than just nasty baby food;) If only we could get him to eat more of the real food. I just hope that this switching over doesn't cause his weight to go down. He has been doing soooooooo well. His height to weight ratio was 75% at this visit!! The doctor was so impressed! I hope we can keep it up with all these changes.

We got the results back of the sweat test. It was inconclusive. He didn't sweat enough like they had thought, so now they want him to do another sweat test on our next visit. BTW, the doctor said that their clinic likes to have 2 confirmations for the diagnosis of CF, and since he was only diagnosed by the newborn state screening, they wanted us to do the sweat test and blood work there to confirm the diagnosis. Actually, he said they always retest the blood work in their clinic, b/c the state(the newborn screening, which is what diagnosed Lil' Chris) sometimes makes mistakes(I'll talk more about when he first got diagnosed when I pick up where I left off on "The Story". Check it out in the labels on the right side of the page if you want to get caught up on "The Story", just start reading from the bottom up;). He didn't want to get our hopes up, but I guess you can't help but wish that it could be true, that he might not have CF. Although, deep down I knew he had it. We've seen all the signs. So, a couple of days ago, we got the result back and it was positive for CF just like we all knew it would be. But that's ok, it is what we are all used to.

The test confirmed that he has 2 mutations of delta F508 which is the second stage(If you have 2 mutations, that means you have CF). I'm not sure how many stages there are, but all I know is that Stage 1 and Stage 2 are the worst, esp. if you have 2 mutations of them. If you have one mutation in Stage 1 or 2 and another mutation in a higher stage, it is not as bad. I have read that those who have 2 mutations in Stage 1 or 2 have CF more severely and have a harder time, and their life expectancy isn't as long(another reason why we are so protective of him now while we still can be). The average life expectancy is 37. But if you ask me, Lil' Chris is doing GREAT and is going to live to 100!!

M

PS. He was 24.2 lbs and 30 inches long. I forget the percentiles, but they were good:) Our next clinic visit and sweat test isn't until Nov 5th, unless his cough doesn't go away.

Wednesday, August 20, 2008

Cough and Throat Culture Update

Lil' Chris' throat culture came back "normal". YEA! Only problem is...he finished his antibiotic on Sunday, but he still has a cough. It seemed to go away after being on the Augmentin for the first week, but then the cough came back in the last week of being on it. The same thing happened the last time he was on Augmentin. So, from now on, he won't get Augmentin b/c he has apparently built up an immunity to it. Now he will get the next strongest antibiotic...Ceftin(he was on it once before but didn't like it). If his cough doesn't go away be Monday or if it gets worse sooner, then we will have to take him for another throat culture and most likely he will be put on Ceftin.
M

Monday, August 18, 2008

We're back from Vacation!

Sorry it's been so long. We were on vacation. I was planning on catching up today, but I'm not feeling very well today. I'll catch up soon, I promise;)
M

Thursday, August 7, 2008

Sweat Test and Bloodwork





Yesterdays clinic visits went really well. Lil' Chris was such a trooper through everything(except getting his blood work done;)

I had an OB appointment at 9:30am and it was running a little behind, so I called and pushed back the sweat test at the clinic from 11:00am to 1:00pm. Why they didn't schedule us that in the first place so we wouldn't have to wait around there all day, I don't know. BTW, the OB appt went great. We heard the heart beating nice and strong. Our next appt is in 4 weeks for an ultrasound to find out if it's a boy or girl!!! YEA!!! We can't wait!!

Ok, back to the sweat test. We got there early and they were still out to lunch and the door was locked. So we had to wait out in the hallway where you don't know who has CF and is walking by coughing on your kid. So, we went and stood over in a corner by the bathrooms where we could still see the door and not have too many people walking past us. There was another lil' boy a little older than Lil' Chris waiting outside the door with his mom and some other lady. I just had a feeling that he had CF too, so that's another reason why we stayed away.

So when they finally got back from lunch, the other family went in, and then I followed. I told Chris to stay out there in the hallway with Lil' Chris, b/c I had a feeling that he shouldn't be around that lil' boy. As I was registering, I overheard them talking about the lil' boy and how he had CF too. So then I felt relieved that we stayed away, b/c you just never know if they could pass any bacteria to each other, esp since Lil' Chris has a cough right now.

So when they called for Lil' Chris, I went and got them out of the hallway(by the way, we do this same thing at the pediatricians too so he's not around any sick kids:) The sweat test was very weird. It was not what we were expecting at all. They put these 2 lil' things on his arm for 5 minutes, which stimulate the sweat glands. Then they put something else on there for 20 minutes. This thing was another small circle thing that collected the sweat. They did the same thing with the other arm too. We did get a couple of pictures, but only when his arm was bandaged up with the sweat collector underneath the bandage. When they took it off, it left a lil' blue stain on his arm(see pic above). He did such a good job. He didn't cry or try to pull on the cords or the things on his arms at all. They were all impressed as to how good he was the whole time. They gave him some toys and books to play with, which we totally skeeved. But we bit our tongue and just washed his hands afterward. He loved the Kermit the Frog they had that sang.

When he got done, they said that they don't think that he sweat enough. So we'll have to wait and see what the results will be. After that, it was 2:00pm and time for our speech class, but they still had to do his blood work. So I called and said we would be late. The first attempt didn't go so well. Nothing came out, meanwhile Lil' Chris was screaming his head off and of course sweating like a pig. They should've done the blood work first, then the sweat test. It definitely would've worked then, but oh well they didn't know. The second attempt was successful thank God. Once they finished, they gave him a lil' teddy bear and we rushed over to where the speech class was...
M

Sunday, August 3, 2008

Walking Along the Wall

Here is a video I forgot to post a little bit ago. This was right before he started taking his first steps. It was the only way he got around without crawling.


M

Saturday, August 2, 2008

Update

Lil' Chris' cough is so much better already and it hasn't even been a full week yet that he has been on the antibiotic Augmentin! Thank God for that! He is starting to like the taste of it too;)

He is also starting to take lil' steps on his own without us coaxing him! He gets one or two in before he falls on his butt. Good thing those diapers are padded;)

This Wednesday is our doctor's appointment to get the sweat test done, blood work done, see the speech therapist(not sure why???), and for a regular check up with the CF team. Hopefully all goes well. It sure is going to be a loooooooooooong day for all of us! The appointments are kinda spread out, b/c it was the only openings they had. The sweat test and blood work is at 11am and the speech therapist appointment isn't until 3pm, and then whenever that gets done, then we go and see the CF team. Wish us all luck!
M