Cystic Fibrosis: CFTR related metabolic syndrome & pneumonia

Just a year ago, i couldn't have even told you what cystic fibrosis was. In fact, when we were sent for Katie's first sweat test, I asked the doctor that very question. What is cystic fibrosis? Fortunately, Katie does not have CF. However, what she does have (CFTR-related metabolic syndrome) is a fairly new diagnosis. Not a whole lot is known about it. Basically, Katie has a lot of the symptoms of cystic fibrosis, but none of the bad parts of CF. But it is frustrating, trying to determine her treatment plan.

Katie's last clinic visit was at the beginning of the month. It went well :) Her test results for pancreatic sufficiency came back and Katie is no longer on enzymes. She is pancreatic sufficient! Yay! I discussed with the doctor about her ENT considering sinus surgery in the next 12-18 months. They agreed with me, that is should only be done if 100% necessary. I really don't want to start her on sinus surgeries at the age of 4! The only concern with Katie is that her weight isn't keeping up with her height, her BMI keeps decreasing. So, we are adding extra calories to her daily diet. She has also begun taking vitamins. So, it was a great visit! Our next clinic appointment is at the end of December.

This past Friday, Katie started getting congested and sneezed all day long! Her allergies were coming to life! On Saturday, she woke up with a barking cough :( I immediately put her on Xopenex every 4 hours. Sunday she woke up with a fever of 102. She was absolutely miserable. By the end of the day, I couldn't get her breathing completely controlled. It was a horrible night. I knew I should have taken her to the ER, but I was trying my best to keep her as controlled as I could at home to avoid the traumatic experience of a hospital stay. Monday morning I called the doctor's office as soon as they opened and got her an appointment with her pediatrician. The doctor confirmed that yes, I should have taken Katie to the ER the previous night. Next time, I won't hesitate. The dr did a CBC, and her white count was really high. So between that and the crackles in her lungs, we were sent for another xray. Sure enough, positive confirmation of pneumonia. Before we left the office, Katie was given a shot of a heavy dose of antibiotics and a prescription for oral antibiotics. After picking up her meds, we went home to snuggle and rest on the couch with the Disney channel.

This is the second time in three months that Katie has gotten pneumonia. And both times, it happened quickly. Allergy problems first, then the barking cough, and a fever on the third day. I called the CF clinic and left a message. Katie has had the pneumonia vaccine. I am hoping we can come up with a treatment plan to help prevent her from getting pneumonia frequently (and so quickly). Katie's pediatrician quickly taught me airway clearance to help get the gunk out of her lungs. I am supposed to ask the CF clinic to give me full instructions on airway clearance. So, it seems this has been added to her treatment plan.

Katie is doing much better today. The shot she got yesterday seems to have really helped! She is still on breathing treatments every 4 hours. We go back to the doctor tomorrow to see how her lungs are doing. Hopefully, much much better!

Icky!

This post is not for those with weak tummies (like me)........

At Katie's last clinic visit, it was decided to go ahead and run the tests for pancreatic sufficiency. In order for this to happen, I had to collect a sample of Katie's poop. The doctor gave me a "bucket" for her to poop in, a tongue depresser to scoop up the poop, and a container to put it in. We were all set! That was in July. Katie is ALWAYS constipated, and spends her days at daycare. Therefore, collecting her poop was not an easy task.

However, after much bribery (from multiple parties), Katie finally pooped in the bucket at home. Thankfully, she did it this morning rather than last night. See, the poop has to be refrigerated and kept cold until it reaches the lab. I did NOT want my daughter's poop in my fridge. Thank you Katie for pooping in the morning! As I step out of the shower this morning, Katie is at the door excitedly telling me that she has pooped in the bucket for me...."I finally did it Mom!" So, I gather the tongue depressor and container (very unenthusiastically.....why couldn't Jason be home for this part?!?!?!) and make my way to gather her offering. (Now, for those who don't know me, I don't do well with bodily waste. Mucus, vomit, poop....they all make me gag and vomit. When my kids throw up, I throw up. It's just a fact of life.)

Katie is standing in the doorway as I am gagging and scooping up poop with a tongue depressor. Suddenly, she takes off running and then Andy is hollering for me to hurry. Who would have guessed that Katie would have her Mommy's weak tummy. My tough, fearless, eat anything, plays with bugs daughter took off running for the other bathroom to throw up. Unfortunately, she didn't make it and it landed on my bedroom carpet. Luckily, she had not yet eaten breakfast. I had to collect poop and clean up vomit all before 8am!!!! What a way to start the day!

I will get to finish my day trying to get the stain of blue juice out of my carpet :(

Katie's hearing test

Thursday Sept 9th, Katie went to the ENT for a hearing test. Great news!!!!! Her hearing is perfectly normal. It was such a relief to hear that. She has had so many ear infections, that we were worried. She also talks very very loudly, and tends to not hear us when we talk to her. But, basically, she is just a loud mouth with selective hearing. LOL! Which is wonderful! The day after the ENT, she woke up with a horrible barking cough. She began breathing treatments immediately and was better by the next day.

This past Saturday was the first FFL football game of the season. Andy did fantastic on the field. Katie wore her cheerleader uniform, but wasn't really into cheering this time around. She can usually be found on the bottom of the stands right in front of the actual cheerleaders. She brought her pom poms but stayed close to us. The boys won the game 30-0. Hopefully this is an indicator to a fantastic season! This is the last year of FFL, then they boys have to play for the school they attend. Andy is a little nervous about that.

On Friday, Andy got his trombone in band. He is so excited about it. He pulled it out several times over the weekend to play for us. He needs lots of practice, but I have no doubt he will be an excellent player by the end of the year :)

On Saturday, Katie went to her friend Will's house to play. I dropped her off and then Andy and I headed home. (Jay was at the deer lease) This is the first time Katie has ever gone to a friend's house without me. She had a great time, but she did miss her Mommy! After an hour and a half of fun, I went and picked her up.

As some people know, the company I currently work for is in liquidation. I have been looking for jobs over the last couple of months. I had 3 interviews with one company in the last two weeks and 1 interview with another company. Got the news today that I didn't get the first one. It was a bit of a drive. The pay was going to have to be pretty good for me to take it, and I wasn't sure if it would be there or not. But, I didn't get it. Still waiting to hear back from the other company. Job searching in today's economy is not an easy task!

Family Weekend

What a great weekend! Friday night I went up to the dojo to practice for Saturday morning's belt test. Then I joined Jay at the ball fields to hit some softballs. The kids went outfield to get the balls. We all had fun :)

Saturday morning was my belt test. I got up at 5:30 in the morning. I don't even get up that early to go to work!!! It was a long, tough 4 hours. But, I did well and got my yellow belt :) And I have the bruises to prove it. LOL! I am still sore today from that test. But, I am very proud of my yellow belt! After that, it was naptime for me while Jay and the kids were at Andy's football scrimmage. That evening we all hung out at the house while Jay built his deerblind. Sunday was a lazy day. Jay finished up his deer blind, the kids played around the house, and I was lazy! I did go with Keryenne to get a pedicure to celebrate our new belts :)

Overall, it was a great family weekend with a lot of lazy thrown in :) We haven't been to the lake in a couple of weeks. So, hopefully next weekend we can make that happen. Katie has been healthy and Andy is feeling much better :)

I am terrible about updating this blog. I am still slightly confused on Katie's health. She had another CF sweat test. Her results were 56/58. 60 and higher is diagnosed as CF. But, she had a DNA test done and it indicates that she does not have CF. This is fantastic news! She is officially diagnosed with CRMS or Cystic Fibrosis related metabolic syndrome. The doctor says it is comparative to mild mild mild mild mild mild CF. She had another ear infection in July, it seems to be a monthly occurrence for her :( Just last week she had viral pneumonia. The doctor explained that with CF, children start out with GI issues, next comes the mucus (sinus issues), then the lung issues. Hopefully, the pneumonia was not the beginning of lung issues for Katie. She is feeling much better. Last Friday, the doctor released her to go back to daycare after a week at home. We did switch her from Albuterol to Xopenex. Wow! What a difference! On the Albuterol Katie was super hyped up and couldn't sit still at all (worse than normal!). The Xopenex is so much better. Her next scheduled doctor's appointment is with the ENT in September for a hearing test. Then in October at the CF clinic. She is still going strong in Karate. She really seems to love it :) She is on her second belt (white belt/yellow stripe).

On Sunday, Andy woke up feeling miserable. Took him to the doctor and he has strep throat. He had to miss the first day of 6th grade! He was able to go back on Tuesday. So far he loves all of his teachers :) Hopefully, he will have a great year. Football practice started a couple of weeks ago. Games start on Sept. 11th. I am excited about this football season :) And I know Katie is ready to cheer for her brother. Jay says Andy is doing really really well at practice. He is growing up so fast! He is a blue belt in karate now, and super excited about it. It won't be too much longer until he is a junior black belt.

I am still doing karate. I got my invite to belt test this weekend, my first belt test. I am absolutely terrified. I have heard that they really push you on endurance. My lungs can't handle too much. Hopefully, it won't be as bad as I fear it will be.

What a journey

I am so bad about updating my blog! Honestly, I don't even know if anyone even reads it. LOL!

This year has been quite a journey for us so far. At the beginning of the year, I took Katie to the pediatrician. She had a funny looking bump on her nose and I wondered if she had actually broken it when she was about 2 and fell into the cabinets. I wondered if it was the reason she snored like a freight train, was always breathing through her mouth, and sometimes seemed to stop breathing for a few seconds while she was sleeping. Our pediatrician referred us to an ENT. He nose was fine, and she will probably outgrown the funny looking bump. But, the said she had obstructive sleep apnea. Between that and her constant ear infections, the ENT recommended surgery to remove her tonsils and adenoids and to place tubes in her ears. We decided that this would be best for her. She had her surgery in February. Her adenoids were blocking 90% of her nose!!!! It was painful for her, and so hard to watch as a parent :( She handled it like a champ though! She is a strong little girl! The snoring came to an end and she began breathing through her nose. She made it through the recovery and was doing really well until Spring Break.

On the Saturday before Spring Break, she started complaining about having "hammers in her head." So, I gave her some Motrin to help with her headache. Jason and I were going out with some friends that night, and the kids were spending the night with my Mom. We went ahead and took them over there. Mom called a little while later to let us know that Katie's head was much better. Sunday Mom called to tell me that Katie had started running fever late Saturday night. But, that she was fine. Mom wanted to take the kids to the zoo on Monday. Sunday night, Mom calls.....Katie's fever is 105.5. I ask her to take it again, it's the same. So, we meet at Children's Hospital ER. The immediately strip her and put cold rags on her. Feed her popsicles and start her on an IV. She was so miserable!!! And the treatment wasn't exactly pleasant for her either. She was terrified of the IV, and they messed up the first one! Her white blood cell count came back extremely elevated (at 34,000) so they admitted her to determine why. Her ears were also severely infected. The next day the doctors said her white count had come down and they believed it was from running such a high fever. Katie got to go home :)

Tuesday morning, the hospital calls to tell me that one of her blood cultures came back with bacteria in it. But, the would need to run more tests to determine if it was a skin contaminant or a blood infections. They said if she starts running fever again, we should bring her back. Of course, later that night Katie started running a fever again. I called the nurse's desk at the hospital and asked them what I should do. They said to bring her in through the ER and they would have a bed waiting for her. When we got there that night, Katie was so miserable. She couldn't keep anything down. She was complaining about her neck hurting and her head hurting. The doctors suspected menengitis. Sadly, this required a spinal tap. But, from the research I had done, I agreed that this was a possibility. The had to do a CT scan first to make sure there were no lesions on her brain from the severe ear infections. This is where they discovered a pretty nasty little sinus infection. But no brain lesions!!! Then it was time for the spinal tap. Let me tell you, Katie is a tough little girl. She handled it much much better than I would have. You have to stay awake so they can watch for neurological symptoms. They gave her a local anesthesia and that was it. It was not pleasant. The staff at Children's was amazing with her. They will forever be my hospital of choice if the need arises. After the spinal tap, Katie was finally admitted to a room. The next morning the spinal tap came back clean. We were so relieved. But, also worried because something was going on with our little girl. Later on, the blood culture also came back as a skin contaminant in her blood. Great news, no blood infection. So, what was going on with our little girl? The doctor started running random tests. Finally, one came back positive. Katie had Mono! So, not a month after surgery Katie had severe ear infections, a sinus infection, and Mono. We got to go home on Friday :)

The following Monday, we followed up with the pediatrician who referred us to an Allergist. After her surgeries, she should not have gotten another ear infection. Especially so soon! A week later, we saw the Allergist. He did a skin test on Katie's back. She reacted to everything!!! She has an allergy during every season plus dogs, cats, and fire ants. So, he put her on three meds a day for the allergies. He also ordered a CF sweat test based on her chronic constipation, abnormal asthma, and constant infections. So, in April we did the first sweat test. The results came back in the 50's which is a gray area for CF. (Above normal, below CF diagnosis). So, a second test was ordered. This test came back in the 40's. Still in the gray area.

At the end up April, Katie woke up with a bunch of gunk draining from her ear. Yay for the tubes working! Boo for ANOTHER ear infection!

At the beginning of May we went back to the Allergist to followup from all the tests. He wanted to test her immune system. So, after the appointment we went and got more blood drawn :( Then had to go back to the office for a pnemonia vaccine. He also wanted to put her on a preventative antibiotic. Unfortunately, it was one we believed she was allergic too. So, the following Monday we go to the office for a drug challenge. They gave her the first dose and watched her for any reactions. She usually doesn't react to the drugs right away, so I wasn't surprised that she was fine that morning. The doses are small and only three times a week. So far, there has been no reaction :)

The following day, we had an appointment at the CF clinic at Children's in Dallas. They wanted to see her due to her elevated sweat tests. I was expecting to go in for more tests and have to wait for more results. But, they had a diagnosis for us that Tuesday. They believe Katie has CFTR-related metabollic syndrome. She does not have Cystic Fibrosis, but has some of the similar yet minor problems of cystic fibrosis. (If I understood it all correctly.) I was a little overwhelmed that morning. They are running a whole bunch of tests to determine the specifics. To see what her body is not absorbing and how different parts of her body are functioning. They are also running a DNA sequencing test. This will determine what genes are mutated to better treat her. They are also looking to see if she is a CF carrier. If she is, the we will have to get tested too to determine the possibility of any future children having CF. Another sweat test has been ordered, and we will be doing that next week. She also has several new prescriptions. She is on pancreatic enzymes, two new inhalers, and a few other things.

Overall, I am glad they finally have a name and a treatment plan for Katie. Hopefully, she won't get sick as much going forward. It's a lot of meds for her to take. But, as a great friend pointed out: She was always on meds because she was sick anyways. We are still waiting on more tests, and hopefully will know much more in a couple of months!

On a lighter note, our family has been as busy as ever! Jay and the kids are all playing ball. Katie's team is so comical to watch. They are just adorable! Even when they are playing in the sand. Andy's team is really good this year! I love to watch them play. And Jay's teams are still winning championships. We haven't been to any of his games this season and i miss watching him play. We did go out to the fields a few weekends ago and hit some balls. I hadn't hit the ball in over a year and I did really really well. Some of them were even going into the outfield! I kind of miss playing.

The kids and I are all taking karate classes now. Andy is the highest ranked out of all of us. Katie is doing really well in the classes. Much better than i thought she would. She begged and begged for us to sign her up. We finally gave in and are super impressed!!!

Well, that's about it for now. I will try to update again soon.

Wow! It's been a long time!

It's been a really long time since I have posted anything. The kids keep us pretty busy. Andy played football this past fall. His team did great! They made it through the second round of playoffs. It was a fun season and I am really proud of him. Both kids are about to start baseball again this Spring. Katie will be playing tball this year so it should be entertaining. Andy gets better and better every year! I can't wait to watch them play. Jason will also be playing softball this Spring so it will be a busy couple of months!

Katie has some minor surgery coming up. She is going to have her adenoids and tonsils removed and tubes put in her ears. She has a lot of ear infections and quite a few throat infections too. She was also diagnosed with obstructive sleep apnea. So, these surgeries should help her be a much healthier little girl. I am nervous of course.

Other than that, there isn't much going on........