Trigger: amnio diagnosed cf positive

[lexi0408]

In 2010 my husband and I found out we were carriers. We were trying to get pregnant and were screened. Because we both screened positive as carriers we were sent to a fertility clinics to get info on ivf/pgd. We didn't know we were already pregnant. Our first son was born after a complicated pregnancy and premature delivery. He tested negative in new born screen for cf and was declared healthy. Fast forward July 2012 we found out we were pregnant again had an amnio at 15 weeks and our second son was also part of the sacred 25% that didn't carry either gene. Now here we are 2015 and pregnant with our third. We found out after the amnio returned that our baby was positive for both mutations that she is our first girl. We are heartbroken over the diagnosis. But we are now faced with carrying her to term or termination. I carry DF508 and my husband is 711+g1>t.

What we know now for certain: she has CF, she will be pancreatic insufficient, and that at this point her intestines are brighter than bone on ultrasound and have shown some dialation making merconium illieus a concern.


We've talked to 2 genetic counselors, 2 pediatric cf teams, talked to a Chaplin, watched the videos (good, bad, and ugly) read the forums on baby center, cried - a lot.

We are afraid for her how long will she live and her quality of life, being our youngest child and our only daughter, how much will she suffer, how healthy will she be over all, for our boys will they rally around her or will they find trouble when they are older to seek attention, for ourselves will the stress and strain tear us apart as a couple? But she's our baby girl...we were in the hospital yesterday- scheduled for termination but the doctor took one look at us and sent us home saying we weren't at peace with the choice and we needed to take more time to decide.

I'm grateful for the time now I can reach out and hopefully talk to people living with cf kiddos, loving them, and in some cases possibly losing them (I'm hoping the last is a rare and getting rarer occurance)

I know no one will tell me that they wish they had terminated given the option. And it's not a decision my husband and I are taking lightly at all but life is hard enough how can I willingly make it harder on my little girl? How can I let something go that I already love so much? How can I snuff out so much potential, how can I face that seemingly inevitable day that I will ultimately say "till I see you in Heaven?"

Hopefully I didn't step on toes or read where I'm not wanted- I'm looking now for words and woes of wisdom from people who love kiddos and live this everyday.

With the utmost respect and admiration,
A

 

[Aboveallislove]

I know you are sad and worried and in pain, but as you said this is you baby girl. Cf is scarey but so is life for "normal" babies...and we are at the cusp of a cure. By the time your little girl is six she could have meds that treat her cf defect and they are working on gene splicing to fix the mutations. There are no guarantees...with cf or life but ending her life now is a certainty that you'll never be able to change. I am praying for you and your precious baby girl.

 

[Printer]

Lexi:

I am a 75 year old male with CF. Like your daughter I have Delta F508 and a milder mutation. I am also PI.

You are extremely lucky that she has been dx so early. Her life will be full and healthy, with a few bumps along the way.

I have been married for 53 years. I have two college degrees. I was very active in sports growing up and played varsity basketball in college (not well but I played). I was a lifeguard for the Commonwealth of Massachusetts, on a Atlantic Ocean beach, for 5 years. I am still very active even to the point of doing carpentry repairs on my home (including roof repairs).

There is a woman, living in VA, who was dx last year at the age of 86.

Good luck with your decision. Please be aware that I am here to answer any questions and if you wish, I will give you my phone number.

Bill

 

[Mg930]

Dear Lexi, I have tears running down my face thinking of the pain and turmoil you are facing. There is no easy answer here. I can only share my story. I am 40 years old with CF. I have one mutation similar to delta f508 and another one g551d. I am pancreatic insufficient. I have 2 children of my own 3 and 6 years old. My health was very good as a child and I was solely diagnosed based on screening. In my later years my health has required more work but I live a normal life. I have a masters degree (I am a nurse practitioner). I worked full time unit I had my first child then I went to part time. After my second I chose to stay home. CF can have so many different paths and unfortunately it just cannot be predicted. Recently there have been some *huge* breakthroughs in cf. Read about kalydeco and orkambi when you have a chance. These drugs are just the beginning. I am so sorry you are in this turmoil. You need to make the best decision you can for you and your family. There is no right or wrong answer. Please let me know if there is anything I can do to help. Sincerely, Melissa

 

[Ratatosk]

A friend of mine found out her first child had cf at 18 months, when she was pregnant with her second child. They opted for amnio, but didn't plan to change the outcome -- intent was to carry the child to term. They wanted to know in order to prepare, in case there were issues with meconium ileus (bowel obstruction). Child wasn't even a carrier.

Fast forward to a well child appointment (6 months) and pediatrician noticed a bump on second non-cf child. Cancerous tumor. Cancer treatments, surgery... On their "healthy" child. Fortunately child is now cancer free.

 

[fuel1316]

ive got 2 daughters with cf. the classic gene type too. first born had meconium illeus, second did not. i am also pregnant with our third and first boy. we ẃont know if he has cf until the nb screen is done.

cf is one of those diseases that used to mean losing your baby. both my girls were given an expected life of 37 years and yes its not a full life but every day we get closer to a cure. its a deeply personal choice and i dont think any one of us here are going to be able to help you make it. just know that you can still give her the best. better to have loved and lost than never to have loved at all right?

also maybe you should read the poem Holland. that one really made a difference for me in the beginning and ive told every new cf parent about it because it helped me so much. its not the life you envisioned but its still a life and you will still have plenty of joy in it.

 

[Rebjane]

13 years ago I was in a similar situation. My daughter was prenatally diagnosed with CF via amniocentesis. We already had one child non CF a boy(4 years old). My husband said to me"This is not how we envisioned our daughter's life; but seeing how much we love our son; we will love her too. Her life may not be the one we dreamed of but it will be a good life; just different" I felt so much better after he said that. I was incredibly stressed and grieving at the time for the life I thought my daughter would not have. Life is unpredictable; CF is unpredictable. What happens to one person with CF may not happen to another. What I did learn is how every single person who meets or comes in contact with my daughter is affected by her and loves her. She is quite a remarkable young lady. In fact; I admire her strength and courage.

Our CF doctor said " I believe your daughter will be able to achieve every goal she sets out for herself" This was in a letter to her kindergarten teachers educating them on CF. Maybe we are just surrounded by great people but I feel blessed.

Our son now applying for colleges has been so affected by her he is planning on majoring in biology to work on 'precision medicine" because of watching his little sister with CF. I wish I could post his college essay (I'ld need his permission) but he has a level of empathy and kindness based on his surroundings.

So, we made the most of the card that was dealt to us. Having a child with CF is stressful, I am not going to lie to you but it's possible and not unexpected to have a wonderful life in spite of CF

Feel free to private message me if you have any questions.

My daughter is in 7th grade in public school too.

 

[ethan508]

One day your daughter will be sitting on your lap while doing treatments, you will give her a little salty kiss on the check. She will reach up and wrap her little arms around you and with a great big hug say "I love you mommy." In that moment you will know perfectly that all the pain and stress that might come from sub-par treatments or hospital stays, or loss are completely worth that one moment when your daughter hugs you.

Fast-forward 30 years, and your toddler granddaughter will reach her arms around your daughter and give her that same hug. In that moment your daughter will know perfectly, that all the trials that she's had to face were worth that single moment when her daughter hugs her.

For my part, I've come to feel like my disease has always been more of a burden for those that love me, than it has ever been a burden on me. I'm glad my parents had me (and all my siblings) and our family trials have shaped us in ways that have given us more love and compassion for each other. Those lessons don't come easy, but neither does anything worth while in life.

 

[welshwitch]

It's up to you. Some people just know they can't handle CF, and I respect that. On the other hand, some people can! And they are wonderful people too. Best of luck to whatever choice you make!

 

[triples15]

Hey there mom,

Of course you are welcome here and most definitely are not stepping on toes.

I'm so sorry that you have been given this news and are having to grapple with the unthinkable. I want to tell you this though.... I have read, and reread your post a few times. I feel like by reading your words it is clear in your heart you KNOW what you want to do. I think the answer is there. I know it can be very hard to get the heart and the mind to agree, but sometimes we have to go with our gut.

With that being said, I know you specifically asked for thoughts/opinions/insight from parents of Cfers, but I am the CFer in our family and wanted to chime in anyway. I'm 35, a college graduate, married, and have an AMAZING 4 year old daughter. Have there been hardships? YES!!! Are there hardships? YES!! Would I have preferred to be born without cf? YES!! Do I regret that I was born, even for one second? NO, absolutely not. Life is AMAZING!

Yes, you have valid concerns. A sick child is often a strain on a marriage. But another thing that sounds evident from your post is that you are your husband are in this together, in the trenches, trying to seek out answers and insight in order to do what you both feel is the right thing for everyone in your family. That also seems to say a lot about how you would handle being the parents of a sick child.

Another point, while I don't try to paint CF with rose color glasses, there are indeed many new treatments coming out. It quite possible (likely even?) that your little one would live a long fulfilling life. As far as your concerns about her brothers acting out. I am the youngest of 3 children in my family and the only with CF (like your little girl). I don't think my being "sick" caused them any resentment or ill feelings. If anything they just felt/feel protective of me and we have always been close. I think your boys would take great care of their little sister.

Life is so full of unknowns. One thing I know is that you already love that little girl with ever fiber of your being.

I hope I haven't crossed any lines. I normally stay very far away from this subject and never try to impose my views. I just wanted to tell you what I was hearing from your post, as well as my personal experience.

Take care mom and dad! My thoughts are with you as you walk this road. Please know that we will be here as a resource when (if) you need us going forward. There are so many parents (and CFers) on here that would be happy to help as you navigate the road of parenting a CFer. You won't be alone.

Autumn 35 w/CF

 

[Helenlight]

Oh my gosh I think I cried reading every single one of the posts on this thread! I agree with everyone else here. You are in a major transition place at the moment... you have the 'unknown' hanging over you. That's the hardest part! We are on the other side of that ;-) and one day, you will be too.

I think the hardest part of CF is that you can't predict the future. It's really a spiritual journey in ourselves as to how we deal with the realities of it. Some days you will find difficult, and some will be as easy as any other. The truth is, these kids can have a wonderful life, and they are less affected by their condition than we are. Many times both parents and kids with CF have a better outlook on life than the rest of the population. They don't take their bodies or life for granted. They are smart, and physically able, and can do the same things everybody else can do for most of their lives.

It's a personal decision between you and your husband, and we support you no matter what you choose. I know it's hard thinking about the possibility of your child not outliving you (believe me I know!), but then there's the thought of her not having the chance to life a life at all. Only you know if you think you can cope with some harder work than usual bringing up your child. It can be very draining at times. At first especially- if they get sick, if they need a hospital stay for bowel surgery or to rid their lungs of infection. But once they are past that, and once you've got the hang of things, it's much easier. It becomes mundane and everyday... like the usual domestic life (I say that in the best way possible, and because you already know what it's like to have kids)! You will experience the best joys, and NEVER take your kids for granted.

Ask yourself a few questions: What do you think you can cope with? What do you think your relationship can cope with? Know that your daughter will cope no matter what. Make this decision for you two and you alone. Don't feel pressured by anyone either way. We can only give you our experiences. If you do decide to carry on, you will be somewhat prepared- it won't come as a huge surprise! You've known you were carriers for a long time now.

For us it was a huge surprise- our first child, and neither of us knew we were carriers. After starting life in excellent health, our daughter got her first lung infection at 5 weeks old, and we had to stay in the hospital for a week. They couldn't confirm CF at that stage, though they told us she had a 'marker' from her heel-prick test (which meant she could have CF, or just be a carrier). After 4 more weeks of coughing and vomiting nearly every feed, they finally confirmed CF when she was 9 weeks old. It was a whirlwind of emotions, treatments, meds, hospital stays... for the first 2 years I didn't know what hit me. I was a first-time mother! I used all my energy to do what I had to for our daughter, and keep up with everything doctors were doing and telling me. I went to theatre with her 8 times to help her relax as she goes 'under' so they can put a line in for IV antibiotics. Now I'm a wealth of information, I can advocate for my daughter in any situation. I am immensely proud of her, and of myself. I never knew I was so strong, or could take in so much medical information!

My daughter is 4 now, and she is amazing. She is fit, ideal weight for her height, lively, intelligent, and charms everyone who knows her. She is an absolute delight and I admire her everyday. She hasn't had a hospital stay for a year now, she goes to kindy, swims, is learning to ride her 'big-girl' bike, and has many more milestones ahead of her. If we got pregnant with another child with CF, my decision would still be the same.

Just know that you don't have to feel sorry for her. You don't have to pity her, or yourselves. Just make the best decision you can for all of you. If you contact your local CF association branch, you will be able to find families willing to meet you, and you can meet kids and adults with CF yourself.

I wish you all the very best, and send lots and lots of love. We are all here if you need more advice, experiences, or even just someone to commiserate with.

Helen

 

[LittleLab4CF]

Lexi,

With the people who have already shared their experience and wisdom, you have received I'm pleased to welcome you to the club. I won't advise you to take action one way or the other but don't worry about what anybody else thinks. This is hard enough to find out what your own thoughts really are and what is in your heart.

From the sterile distance of the Internet I will offer two arguments I hold equally. As a young geneticist when the U.S. Supreme Court was arguing a woman's right to terminate a pregnancy, my peers were trying to understand the ethics of terminating an embryo that would most certainly be born a person with a lifetime of pain, suffering and disability. Keep in mind my CF diagnosis was not to be made for another 25 years, most "defective" babies were cloistered away in State institutions, and, I was studying them.

For many people, this is the only reason to be discussing ending a pregnancy and we limited our discussions to this. Only chromosome sized birth defects could be detected in the womb like Down's syndrome but we knew that a few years away from then, we'd be testing for many genetic diseases, some of them less dramatic and phenotypically variable conditions. As young scientists working in an institution where the rule was; however bad the quality of one's life, it was going to get worse, we were surprisingly optimistic. This was life without the ability to learn the outcome until the baby arrived. This was normal.

Within a year or three, Down's and similar birth defects were only grudgingly accepted by the institutions that normally took them. Somewhere in the late 60's a crack in the wall opened and the Social Sciences rushed through the gap and took hold. It turns out that the involuntary patients in the State Hospital had minds, emotions, hopes and some very real anger. Advancing the studies of psychology, sociology and the other soft sciences challenged the very things that were soft or lacking data and we all benefited. The deinstitutionalization (whooh!) of most patients has changed the landscape. Medicine can control most chronic disease that previously required hospitalization or nursing homes.

You're in an enlightened time. You're also in a time where you can spare a baby born with a condition nobody would wish on you or your baby. It comes down to the personal values and beliefs of the parents to be. After a lifetime peering into smaller and smaller pieces of the stuff that makes life, my absolute awe at the process of life, I have reconciled with my faith and trust in scientific method.

It took me on a journey through the major religions, the writings of philosophers and ethicists. The famous Anthropologist, Margaret Mead, was a friend and mentor. As a geneticist I believe that biological life begins with the uniting of sperm and egg. When that life joins with the soul it becomes human life, in potential. In order to have thoughts that potential life must develop senses and explore their environment before the beginning of consciousness can even be considered. The actual moment consciousness occurs and the soul joins is not known, it comes down to belief. By my definition, the baby would need to survive outside the womb to meet my criteria scientifically. My heart is comfortable and open to argument. If I was making this most difficult decision based on my beliefs I might choose to see how next baby fares genetically and allow the coming soul to be CF free. That's an argument.


I have been through the process of losing my father to CF. Like my father, I have GI dominant CF. It has taken its toll in the long 65 years this milder CF and I have been wrestling. Late diagnosis is responsible for my father's early demise and many health issues I deal with. My father was not diagnosed in his lifetime and not interpreted as CF until I was diagnosed.

My father was a vibrant and strong man. Happy and funny, he was brilliant and talented. He was a force of nature and just as intimidating. I have passed my expiration date. My paternal grandmother and my dad died at 48. Long before I hit 48 I was certain that I wouldn't make it. The quality of his life was 10/10. My mother would agree, with the admonition, she felt he was cheated.

What she meant went further than not dying at 85. CF's median lifespan means potentially being cut down just when most people are at the height of their careers or pique of their lives. I harbor some bitterness over the sudden decline in my health at 50. Skipping the long story, I had landed on the threshold of my personal and professional life's dreams and had to walk away because I could no longer work.

I was born smiling. I don't know if there is a gene for happiness but I think I have it. On the rare occasion how I feel affects how I am feeling. Like my father and his father, I am a 110 volt person plugged into 220. In my early 20’s my boss asked a mutual friend what was with me. He went on to say that everybody else has one or maybe two interests which might be a hobby or craft but “LL” can’t be happy unless he’s got six. It was true. Science is just half of me. I loved making fine musical instruments, lens grinding and camera making, and my father taught me everything from electronics to rebuilding a small aircraft for certification....

I have no regrets over the genetic soup that turned into me. I honestly wonder if I would have been the hyperactive dynamo, and the kind person I am. (blush) CFers are born with built in pathos. If God and I could sit and discuss reliving my life without CF, I don’t think I’d immediately jump at saying yes. It isn’t that simple when you have it. That’s an argument.

As parents of 2 lovely children, this new baby will not disappoint. She will love and be loved. CF will be a part of her and if you’re smart, you won’t treat her any different than her siblings, excepting that she’s a girl. As every late diagnosed CFer will agree, escaping the label of CF opened what would have been close to lock down, if mom and dad had a name like CF to panic over.

I remain optimistic that CF will be fully arrested in most people within a very few years. We are all Guinea pigs at the tiny population we represent. Genetic drugs have landed in our laps first. Considering that the food fad in labeling now is “No GMO” we blindly rush in to take drugs that modify us genetically. We are GMO’s, or potentially cured by becoming one.

You really have played out the complete potential life of your embryo/fetus. Somebody might have raised the issue of worrying about elder care for CF. If the present is any indicator of the future, there will be problems if she isn’t able to work a reasonably full lifetime at a decent job. Any poor person unlucky enough to just hit the minimums for Medicare, SS Disability or some sorry excuse like Medicaid or state paid disability will most likely die from medical neglect.

The CFF assures no patient goes without needed medicine but their model is changing. They may have invested in curing, or arresting the progression of CF. Like the deinstitutionalized chronically ill, once the doors closed, the funding went away. The now free patients are relegated to boarding homes or sharing living quarters with family or friends. They are way below poverty level and their safety net is a clown umbrella.

Whatever decision you make, my heart goes out to you,

LL

 

[humphrey711]

Hi Lexi,
I just tried to send you a message. Please let me know if you received it. Good luck with your decision.