CF Clinic Visit

After our ultrasound appointment, we went to the CF clinic like they had asked us to do. He weighs 24 lbs and 13 oz, and is 31 1/2 inches long.

The doctor came in and checked him out and asked a lot of questions about his cough. We told him that it is going away, but sometimes we can still hear it. We also told him that he is not wheezing or short of breath or anything like that. He never has been and hopefully never will. I think that is why he hasn't been on any nebulizer treatments yet. He listed to his chest and back, and said that his lungs are CLEAR! YEA!!

He also talked about his throat culture results. He asked us if we had a dog. We kinda looked at him funny and said "No...why?" He said that the bacteria that he was growing in his lungs was a bacteria that they usually find in dogs saliva. We looked at each other and said "That's weird and gross." But the doctor said that is was nothing to worry about and that it is something that does not need to be treated. Still kinda confused...we left it at that. I'm still not sure what the name of the bacteria is exactly. I'll get a paper in the mail soon that will tell me.

The doctor said that he is still gaining weight like he is supposed to and that was a good sign. I was relieved to hear that, b/c we have been trying to switch over to regular food instead of baby food. But it seem like he wasn't eating as much. He doesn't drink as much of his bottles as he used to. I even started making 6 oz bottles instead of 8 oz bottles, b/c he kept wasting them. But it must all be balancing out I guess! We'll see when we go for our next appointment on Nov 5th.

The doctor said to just continue the Vest as normal (20 minutes, 2 times a day) and to continue the Sulfatrim until the 21 days are up. I was glad to find out that both Daniel and Ashley(our CF friends) have both been on Sulfatrim. It must be a good one:) He still hates the taste, but we found out that it's not so bad when both of us are here to give it to him. One holds his arms down and opens his mouth, while the other puts it in his mouth. When we are by ourselves trying to give it to him, like we are most of the time b/c we work opposites of each other, well....that's another story:( We'll get there though. Actually, I think he just doesn't like it b/c it is pink! He sees that pink coming and wants nothing to do with it. He Dadda's boy, that's for sure!
M

IT'S A GIRL!!

Isn't she beautiful?

Now comes the hard part...picking a name:0

They said her weight and everything looked normal for 19 weeks, that doesn't mean she doesn't have CF. We won't find that out until a few days after she is born probably. There is a 1 in 4 chance she could have CF and a 1 in 2 chance she will be a carrier.

She was sooooo active the whole time during the ultrasound! (I have been feeling her move since last week). In the first few pics we got, her head was on the right side(like the pic above), and halfway through, she flipped and her head was on the left side. Too funny!!

The estimated due date is still 1/29/09.

M

Big Day Tomorrow!!

Tomorrow we have our ultrasound appointment to find out if we are having a boy or a girl! YEA!! We can't wait! I'll let you know.

Also, I called the CF clinic today to find out what the throat culture result was. He grew a bacteria, but it is not a CF bacteria. I think she said it is a mouth bacteria, whatever that means. He actually grew this once before. It is something that does not need to be treated, I believe. But later, they called back saying that the doctor wants us to come in tomorrow. If it's not a CF bacteria, I don't know why they want us to come in so soon, but we'll do as they say. Luckily I had requested the day off from work. Hopefully everything is ok. His cough has gotten a little bit better since being on the Sulfatrim. Maybe they will take him off of it. That would be great, since it is sooooooooo hard to force down his throat. He hates the taste of it. We have tried every way possible to give it to him, but nothing works the second time. He is too smart and catches on too fast. Sometimes I feel like we end up spilling more than what he gets in his mouth. We'll see tomorrow what they say.
M

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

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

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