Wednesday, September 22

Family Genes

As many people already know, Madeline's diagnosis of CF was a complete surprise to us all. Oftentimes this disease is a "secretive one" in that most people never know they are carriers or that carriers could make a child with CF.In fact it is the most common life shortening , hereditary disease out there. It also is the one disease that I feel most have no knowledge of.

Complications after birth from CF

 Who would have thought that 2 people (Jack and Myself) could be carriers of Cystic Fibrosis? And then to top it off, who thought that when two carriers marry they have a 1 in 4 chance (25%) that their child would have CF? And what were the odds of everything working out that our child WOULD BE that small 25%...and she would get Cystic Fibrosis. Well, here were are today. We never win the lottery, but unfortunately CF won that time...


This brought up a lot questions in our family like..."Where did the gene come from?" We have no known history of it from either least not of the disease being known. Take a look at this diagram.

This shows how both Jack and I were carriers and M became the "affected" with CF.(1 in 4 chance)
So, last week my brother (who is 3 years younger than me) got tested himself for the disease. He recently got married and our family encouraged him to find out if he was also a carrier. Since we knew the CF gene was passed to me, he knew there was a chance it was passed to him. Really it was a 50% chance. One of my parents is a carrier and one is not. I got the carrier gene and today my brother found out what he got...

He is negative.

There are so many mixed emotions that came with this news today. I am not sure I can completely describe them so I may sound sane. So, please forgive me. Really, this was hard to swallow for me. It's not because I would ever WANT my brother to be a carrier, to have the possibility to making a CF baby if his wife was positive too. I think this really is hard because I look at our chances. My brother and I  both had a 50% chance of carrying this disease and life dealt him the better one. That is just hard.

I had this feeling that  he was positive..... I thought that it would be great for him to have a heads up, unlike we did. He would know he was positive and know that he would have to take precautions. His wife would need to be tested. They could opt for other means of conceiving a child. In some ways, as selfish as it sounds....Madeline, and our family would "protect" him from the CF gene. We would walk away feeling as though we prevented the pain that Jack, Madeline, and I live with. Instead....

I just feel a little lost.

I tried looking at Madeline  today the same I do everyday. Everyday I have so much hope for her. But somehow, the news of my brother got in the way. I wanted to cry for her today and tell her how sorry I am that this all happened the way it did. I wanted to block the pain of having to explain to her how she was the "chosen one" and how we wish we could have not given this horrible disease to her.

Today is just one of those days that is making me think more about CF and the tolls it takes on your heart.
It's weighing heavy on my heart for those like Madeline who were "chosen" to fight this disease. It reminds me of the struggles we all face with CF. I hate it. I really do.


  1. {{HUGS}} Thank you for sharing your journey. I just wish I could give you a hug today and every day. You and Jack are the chosen ones. I remember the guys you dated and the ups and downs of finding "The One". Jack is definitely the one for you. I remember how excited you were and how gorgeous you were on your wedding day. He completes you and is everything you looked for in a man. Why you ask that you two where the chosen ones to produce a beautiful and loving daughter? Because I see and know that you do have the strength, the patience, the love, the nurture, the caring, and compassion. Through it all, it is people like you that M needs to most. I wish all children have wonderful and caring parents like you and Jack. Those who would do anything for their child love them unconditional and nurture them. I am sorry to hear you feel lost today about your brother's news. I know it is hard not to be able to share that come thread and wonder why you and not him. But feel blessed in way that you are educating so many others besides your family. You are a positive advocate CF and have educated so many of us that had no understanding of CF before M came along. She is a ray of sunshine and a fighter. I pray one day that there is a cure and your dreams for her will come true. You are a beautiful family and even on those gray days remember there are those praying for you and loving you.

  2. I know that feeling, I've been there the last few days! Sending hugs

  3. Hey Sandy! We have wondered the same in our family. Bryan's brother and sister were both tested after Bryce was born. BOTH are carriers so all three kids in his family got the gene...a very rare gene at that (G511D). I would love to know which parent passed the gene on. Bryan's sister is married so her husband had to get tested and found he is NOT a carrier. They were very relieved. (I so understand your current feelings).

    I have 2 younger brothers who have not been tested, but would love for them to find out. Like you, we didn't have family history either, which come to find out is really common. After Bryce was diagnosed we had to get our girls tested. You know it took me 9 months to do that. I just couldn't bring myself to take them in because I was so afraid of what the results would be. Turns out Sydney is a carrier and Jordyn is a non carrier. Kindof crazy we got one of each. What's really crazy is in the state of GA in the year 2008 only 15 babies were born with CF and Bryce was one of them. How bout them odds!!

    Great post!

  4. Once I get on Tricare again- wink, wink ;) I will be sure to get tested. That pic of Madeline in the incubator makes my heart hurt. I love her chunk now!


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