The results are in…and if I were to blog about how bizarre and uninformative the visit was to the doctor today you probably wouldn’t believe me.
The beginning of the conversation went something like this:
Doc: Okay, so you are here about these blood results for CF
Me: yes
Doc: Is there any family history of CF
Me: Well, Bennett tested positive in the hospital as a carrier, but no history on my mom or dads side.
Doc: And how is Bennett doing now?
Me: (with a horrified look on my face as I glance back and forth between Brandon and the doctor) ummm…well…Bennett died when he was six months old.
Doc: Oh, yeah (scratching his head) was that because of CF.
Me: Uhhh…no, he was just a carrier. Remember, I had premature twins.
And to be honest the conversation didn’t get any better from there. After looking at my blood results we talked back and forth and didn’t really get anything accomplished. He suggested I see a pulmonologist...no kidding! I shocked him when I told him I had already made an appointment with the director of the CF clinic here in Houston. His comment: Well you sure went straight to the top of the food chain. Yep, sure did buddy and thank goodness for her b/c today was a total waste of time (I didn’t actually say that, but I felt like saying it)
So we left with a copy of my blood results and I have been researching ever since we got home. I am going to post the two exact mutations they found b/c someone out there may know something about them or have those same two mutations (not that our symptoms would be similar). Two mutations found were : delta F508-9T and R117-7T.
From what I have read this is how I understand these two specific mutations:
Delta F508 is the most common and most severe CF mutation. If a person were to have a double mutation of delta F508 they would be considered to have a more severe form of CF. My other mutation is R117-7T which is considered a moderate mutation, however it is variable depending on the exact location of the mutation. For example, if the 7T from my test were a 5T I would have a more severe form of CF. So, from what I understand I have a mild-moderate case of CF.
This is a lot of info to digest and I am trying to do the best I can with what I have been given. Today reconfirmed the diagnosis of a mild-moderate case of CF and exposed the two mutations of the disease to me. The next step will be visiting the pulmonologist in February. She will administer a sweat test at that point. I am not sure what will happen beyond that. I am sure medicine and treatments will be discussed.
Our good news for the day: Brandon is not a carrier of the disease!!! Praise the Lord! I have spent most of my free time praying that Brandon would test negative for a few reasons. 1. It would mean that no matter how many CF symptoms Bennett displayed ~ there would be no way he died of CF if Brandon wasn’t a carrier. 2. Our remaining 5 embryos have a 50% chance of being carriers, but they can’t have the disease which means we can still use them for our next IVF transfer.
What a long week! I am sure the next few will be long too as we wait to learn more about how CF is affecting my life.
We finalized Bennett’s headstone today. I know it seems like it has taken forever…and it has! I couldn’t imagine choosing a scripture that would feel less than perfect at any point in our lives, so we had to pick the best the first time. It took a little longer than we expected, but it is just amazing. It is perfect for our little man and we can’t wait to have all of you out there to celebrate “Headstone Day” with us.
Hopefully we can get Ellie back to a normal life here soon. She has had a minor regression with the potty training and as I sit in bed and type this at 10:50 she is awake next to me. She is needy of attention and can’t seem to let me out of her site. I am sure she senses something going on, so I am going to work extra hard to make this house as normal possible for her in the next few days. It is amazing how one little bump in the road can throw them all off kilter.
Remember that you have 103 days left to donate to Team Chunky Monkey for the March of Dimes… We are so thankful to our friends that have donated so far. We are starting early b/c we have doubled our goal from last year. We are counting on you to help us and the future of premature babies is counting on us to help them…together we can make a difference.
I am sure there are a million other things to blog about, but to be honest I can barely keep my eyes open. I am so thankful for your continued prayers. It has not sunken in that I have CF yet…I truly went into the appointment today thinking that there was a way it was a misdiagnosis or maybe I was just a carrier of a more serious mutation. Well, that’s not the case. So, I will continue to research, learn, pray and wait until February 11th when we go to see the expert. Prayers for strength, patience and understanding are needed. We appreciate all of you!
Blessings,
Angie
Getting back to normal
3 weeks ago
7 comments:
Hang in there. My daughter, Reilly has DDF508, which means she has 2 copies of the DF508 gene. Like you said, it is considered the most common gene, and people do say that it is the worst, but I honestly do not believe that. To date, Reilly's health has been pretty good, so if she has 2 copies of the worst gene, I would think she would be much sicker. I gues what I am trying to say, is, don't let the particular gene you have define how mild/moderate/severe your CF may be. It affects each person differently, and only time will really tell how it will affect you. Look at it this way: you have mad it this far before you were even *diagnosed*, so things could be good for you! :o) Also, it is standard (recommended) procedure for CF'ers to be seen at an accredited CF Clinic. You will get more accurate information, and most of the time, better care. (not always, though!) I'm praying for you, and for your family. Please don't hesitate to contact me if you have any questions, whatsoever! All of us in the CF community stick together. (((hugs!)))
I agree totally with Cindy's post.
Keep up with your great attitude Angie. It will get you SO far when it comes to CF. I think it makes all the difference in the world on your health!!
I'll keep praying and checking in.
Our little Phoenix has Double DF508 and has really struggled.
The one thing another CF mother told me was that God makes no mistakes. I have to admitt that sometimes I find myself questioning his process.
Stay positive and when you need a pick me up look at Ellie and know what an amazing mother you are.
Please let me know if I can be of any help!
Hugs
Angela
Ang, I can't believe your appointment went the way it did! I got so angry at that doctor when I read your post, especially when he asked about Bennett!!! I hope the next doctor you see provides you with the attention, information and bedside manner you deserve!
Sorry...I'm just so frustrated for you! :) I'm glad you were at least able to find out which 2 mutations you have. That's a starting point!
Jake and I were reading his little Memory Verse Bible last night before bed, and when we read this one I thought of you:
"For I am the LORD, your God, who takes hold of your right hand and says to you, Do not fear; I will help you." -Isaiah 41:13, NIV
My prayer today is that you will feel His presence as He holds your hand and walks with you, specifically while you wait for your next appointment.
Hugs to you!!!
Jenn (& Jake) :)
Before I even read any more, I have to just scream!!!!!!!!! The conversation with the doctor is insanity!!! Every new line I wanted to pluck you out of that room!!! Okay, now I'm going to calm down to read and respond to the rest.
I still can't get over that doctor. Top of the food chain? You mean, "the doctor who can treat my disease?" Wow, this has me angry! So glad you already have an appt-you have been so proactive.
Great news hearing Brandon isn't a carrier! It is encouraging to know that you can continue thinking about having more little blessings from the Lord. It would comfort me to rule out Bennett having CF as well.
This is what I have observed about the "severe/not severe" phrase. The CF medical community does not like using those words. They either don't want to discourage us or they don't want to get our hopes up. That's why you will hear "typical/atypical", and we all hope for atypical!
You will also hear the term "modifier genes", which play a pivotal role in the severity of CF. These are additional genes besides the CFTR that affect health.
This is how I would describe it: The 2 CF mutations don't determine how severe the CF is, but they do determine the range of severity. So I wouldn't describe Double DF508 as the most severe (although that's the shortcut way to describe it), but I would definitely say that within its range is the possibility for the most severe CF. Modifier genes, which are different in each CFer, will determine where someone falls w/in that range. My daughter has the same mutations as Reilly and Phoenix, and yet their CF "paths" are all different.
So having the R117-7T as the 2nd mutation gives you a different range. Your range is going to be less severe than a DDF508, but where you fall on that range will depend on a ton of factors. The good news is that since you just now got diagnosed at 30 and you're so healthy (except for these unexplained things over time), it really looks like you're at the high end of your range! And then when you get meds, it will just get better!
Clear as mud?
Just to add to this convo:
1) Your conversation with your doctor sounds crazy! I am so happy to hear you will be going to the proper specialist, one who can give you and your family the care you deserve!
2) CF mutations are classified from class 1 (most severe) to class 5 (least severe). DF508 is actually a class 2 mutation. There are "more severe" mutations in the sense that there are mutations that inhibit CFTR function more than the DF508. Remember that it's only recently that many CF mutations have been discovered. Some people claim that CFers DDF508 tend to fare the worst, but this definitely is not always the case. Frankly, the reasoning behind this is flawed - more DDF508 CFers suffer severe cases simply because there are more DDF508 CFers, period. I think it accounts for somewhere around 80% of CF mutations?
As other people have pointed out, mutations aren't the be all/end all of CF designation, and most people don't go for mild/moderate/severe designations. We tend to use those to describe the PHASE of a person's CF rather than the CF itself. Atypical/typical (also atypical/classic) is a much more common term.
Hope that's somewhat helpful. I'm so sorry you're dealing with all this right now, but since you can't change the diagnosis, I'm at least glad you're part of our little "CF family" now!
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