hello All,My wife and I expecting our first child, and through routine blood testing, found out that we both are positive carriers for CF mutations, DeltaF508 and a relatively rare M348K.We do not know yet whether the baby is affected or not, but of course understand the 25% chance we have for the baby to have CF. we are doing genetic testing in about a week or so. She's in her 11th week.I must admit, I knew next to nothing about CF before we got these test results and started researching CF. I am impressed with the community that exists, and the research that seems to be going on in the scientific community. I was hoping a few people might be able to chime in with some comments on a host of questions we have. Please excuse my ignorance, I am trying to learn.1. Our doctor said M348K is rare, not particularly well known, but from what they know not a severe mutation, and therefore CF effects may be less severe. If anyone on here has M348K, or any other that might be classified as "less severe", I'd be very interested to know what that actually translates to in "real life". 2. We are currently living in Italy, though I am an American citizen. We were debating whether to come back to the States or stay in Italy anyway, and this may put a new spin on our decision. In Italy, all CF-related medical expenses are covered by the government, which means it's essentially free medical treatment for parents like ourselves. In the States, my work has a pretty solid insurance policy though I havent checked their coverage for CF yet. But what are the costs like? What do you actually end up paying for: medication, hostpital time, private physical therapy? What is the US insurance situation like for CF? I hope these aren't too rude or pedestrian questions, it's just something we have to think about. 3. Again, I <i>really</i> hope I am not overstepping the bounds of common decency here, but, I certainly have no where else to ask at this point:Generally, these message boards seem to be places for lots of encouragement, positive feedback, and community sharing. All very positive things. And that kind of gets me thinking that if we have a baby with CF, things won't be so bad. I read so much positive success stories here and there... But am I getting a biased view here? Are the people really struggling just not posting on here? Are the parents who have lost their children and greivingly deeply not on these boards?thanks for any and all responses,Jeff
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Lots of questions, lots of fear
- Thread starter anonymous
- Start date
Hi Jeff,I'm Dea...I am 30 with CF and live in Illinois. Congratulations first of all on the upcoming birth of your new baby! I was diagnosed with CF at 6 weeks of age and have 2 copies of the Delta F508. I want to say that by asking these questions you are not overstepping any bounds by any means. That is how we learn the answers, right? If you say you have a solid insurance policy....you should be ok. I have Blue Cross/Blue Shield through my husbands work and it is very good as well. Of course, they dont pay 100% and it can get expensive depending on the medicines needed. Someone with at least one Delta F508 usually has gastrointestinal problems for sure. Which means taking a pancreatic enzyme before meals. I have copays with everything. When I am in the hospital though, ins. pays 100% for me. I have to pay copays for doctors, lab work, xrays, etc. I see the doctor every 3 months and do breathing tests to see how the lungs are functioning. The biggest thing about CF is that each of us is sooo different even with the same mutations. There is no way to tell the severity by mutation. I want to let you know that your child can still lead a normal life. There are going to be some adjustments....but you will make it. It sounds like you are very involved and very excited as well! I hope that everything works out for you and your wife...Good Luck! If you have any questions...I will be glad to try to help! Dea
First of all, you have come to the right place. This board is full of nice, cooperative, open people. My daughter, Emily (now 20) has one copy of Delta F508 and one mutation that 18 years ago was not yet identified. We should probably have her retested to see if that mutation has been identitied, but it is just not important to us at this stage. Her medical costs are pretty much covered by my insurance. I am employed by the public school system in the town where I live, so the insurance is good. Without it, we would be paying out of pocket somewhere around $2500 a month. (and living in a cardboard box!) LOLCF can be a pain but it is a manageable disease. I wish the best for you and your wife. Please let us know how the genetic testing goes!<img src="i/expressions/face-icon-small-happy.gif" border="0">
NoDayButToday
New member
Jeff,Hi. Even though I'm not an adult yet, I can answer some of your questions. The first one, I am double Delta508 and so can't answer. As for staying in Italy or moving back to the U.S., you should not only factor the decision (in relation to CF at least- there are many other personal things to weigh!) insurance, but also how knowledgeable a doctor is about CF. I doubt that Italy has as many CF patients as the US, and if so, probably not as many doctors specializing in it either. So bear that in mind also. My insurance, we probably spend about $400/month on copays on prescriptions and other things, plus the extra things not generally covered by insurance... I've never had private physical therapy though- my mom has done it, and now I use the flutter or vest. Day to day life, for me at least, (and I do not have M348K) is a challenge but definitely does not hinder me from having a normal life. NOT doing them, however would, so I definitely don't mind the 2 hours or so I actively spend doing/ setting up treatments every day. The board is not, in my opinion, biased. Parents of CFers are burying their young children less and less- especially now that with genetic testing, treatment can begin immediately and therefore prevent lung damage from the start. Look at Dea. In this age of transplant and the research you mentioned, CF is no longer a 'childhood' disease. If your little one does in fact have cf, this is the best time for he/she to be born. In the last 15 years alone (since I was born) great things have been discovered. Good luck and congratulations on your upcoming arrival!
Jeff,Congratulations on the impending arrival of your baby! Like someone mentioned previously, IF your baby does have CF, knowing that from the beginning will be very beneficial.The free CF care would definately be a big plus. It can get expensive. Most insurance companies here in the states cover CF if your ins is employer related (group policy). I don't know the answer if you were just trying to get insurance on your own, I'm guessing that would be more challenging. From what you've said, though, it sounds as if it would be through your employer.I think they are really up on things in Europe, from what I can gather. Maybe you could post a question asking for people from Europe/Italy to respond & see what they think of the CF care there.As far as parents grieving over a lost child w/ CF, sure they do. CF is a serious disease and each case is a little different. I am not going to paint a rosey picture, I've known a few people w/ CF that have died at a young age. However, I'm 37 and still doing well.One advantage the new parents have these days is just the advancements in CF that I've seen during my lifetime that doesn't make CF a pediatric disease like it was when I was little.Your baby probably will be just fine and if not, God will give you the strength you'll need to handle everything. Please keep us posted<img src="i/expressions/rose.gif" border="0">
Congradulations on your new family memeber. I hope that you get lucky and will have nothing to worry about and the tests come back negatively. I don't have CF but my fiance does and he is now 33. Since he is self employed he has had to worry about insurance. When he tried to get insurance after a divorce he had some trouble. He was without it for about 2 years but managed to get by. Now he had a small business plan through Aetna and it costs him about $300 a month for his premium. Other than a few prescriptions a month at abouta $10 copay and Dr. visits every few months with a copay of $10 we have few CF related expenses. About moving back to the US or staying in Italy: do the DR's have the same experience with CF as American Drs, do they have the same resources that we have to treat the disease. Check with the hospitals to see how many specialists they have. My boyfriend's CF is not very severe, we are really lucky. HE is a double DeltaF508 and his biggest problems are gastrointsetinal. You also mentioned the emotional impact it will have on your life; most days are great and it is easy to accept but there are days when everything is depressing. There are many more good days than bad so everyday that he is here is a great day. He is also one of the strongest and most positive people I have ever met. Good luck. If you have any questions or would just like to chat my e-mail is ASander6@tampabay.rr.com
I am no where close to an expert on this but, in some countries where there is free medical covered that doesn't mean that the meds they offer you are the best ones for your situation. In other words, you might need an antibiotic, but you won't necessarily get the one that is "right" for your individual situation. But I really have no idea how that works in Italy. In many European countries the doctors aren't up to par with the doctors in association with the Cystic Fibrosis Foundation. They benefit of being out of the US is that you are more likely to be a participant in hopeful trials that aren't approved yet in the States. Then again, there might not be as many safe guards(obviously). It might be safer to pay a little or a lot in the US than out of country. But I am sure there are people here that can speak great for other parts of the CF community in other parts of the world. Consider yourself to have a delta f508 gene. These gene is getting the most attention at a target from pharmaceutical companies!Jake
Hi, this is Jeff again, the original poster,Thanks everyone for their responses. It does help me to hear from others. I am currently living in Venice, and there are two CF centers nearby in Padova and Verona (30 minutes, or an hour). I don't obviously know much about their quality, but they are at least designated official CF research centers.We are still waiting to do the CVS and get the results in a week or two. One thing I can say, is whether he/she has CF or not, I definitely hope to become involved with helping out some way CF foundations in the future. This is opening my eyes, obviously.I must admit though that we are still pretty scared. Knowing whether or not the baby has CF this early in the pregnancy does give us options about whether to continue the pregnancy or not -- as difficult and cruel as that may sound for some. That's why we are trying to learn about quality of life for CFers, and I appreciate the honest, and encouraging words here.
I have been reading on this site for a year now and this topic I felt I need to coment on. My third child was diagnosed at birth with cf due to a new born screening study in our state. It changed our life. We knew of no one with cf and have lived in and out of denile for the first year. My son is now 2 and has thankfully not shown any symptoms. His test all come back fine, pancrease is still functioning and has only had 2 colds and 1 ear infection since birth. Remarkable especially since he has two siblings (both carriers) that are in school full time. I just wanted to say who knows how your baby will be effected. Who knows what lies ahead for us but beside from every 3 months wondering what the cf team will tell us at routine checks, we have had a wonderdful 2 HEALTHY years with our son and who knows how many more. If I new before birth .. I know I wouldn't have done anything about it but what if we opted to end pregnancy ? HE IS HEALTHY!!! his mutations ar a445e and s549r
I am so glad that I did not learn about my son's cf during pregnancy. I am scared that I might have chosen to terminate the pregnancy because I didn't want a child with "anything wrong with it". Oh what I would have missed! My son has taken complete hold of my heart and I can't imagine life without him! Everyone has a "cross to bear" - remember that. No point in feeling sorry for ourselves. Some people are born with cf, some people are born to abusive homes, some people experience great loss and hardship throughout thier lives. Do I wish my son did not have cf, like a friend's son? Sure! But my friend's son will have his own problems.I praise you for taking the time to learn about this disease BEFORE you even know your results!
Hi Jeff,I completely understand your fear! My husband and I went thru the same emotions and fear when we found out we were carriers too. No one in our family has ever been diagnosed with cf. Our amnio test came back positve and I am pregnant with a baby that will have cf. I am due in 4 weeks~July and all i can say that finding out that your baby has cf is very difficult and probably the worst day of your life! But now that i have learned about the disease and how research has really taken the bull by the horns and that they are really so close to finding -if not a cure a very close treatment that will take away all the symptoms, it really is the best time to have a baby with cf! I am looking forward to her arrival! I truly believe that having a baby with cf will be difficult but i also have difficulties with my other little one too!!! Which by the way my 2 1/2 year old girl does not have cf and doesn't carry the gene! We have the two 25% odds- one w/cf and one w/out cf!! My hope is that you just get the high 50% chance and have only a carrier or of course no cf! Our mutations are DeltaF508 and a rare 17171-GA. From what my husband has researched having a rare mutation can balance the DeltaF508(most common gene and maybe the most strongest gene) and have a higher risk of having a mild case?? As you can see this is a wonderful place to vent, ask questions and have lots of support! Let us know how the cvs testing goes!~Blythe
Hi Jeff,I am Tina, the mother of 4 boys, my youngest Ryan is 11 with CF(double Df508). The initial shock of hearing your child may have a shortened lifespan almost paralyzes you with fear. But I can attest to a normalcy and blessing like no other. Ryan's first 3 months of life were a struggle and it was a bit overwhelming but the things we worried about in the beginning: remembering to give him his enzymes, doing pts twice a day are just normal now. It becomes just like reminding him to brush his teeth and wash his hands. You realize very quickly to become the expert and advocate for your childs quality of life. He is an amazing boy and whether I had 1day, 1 year, or 75 years with him I would not change it for the world. Having CF can strengthen you family when you choose to look at the positives in life and not the negative. An example would be a recent visit to the Dr where Ryan for the first time sat to get labs drawn without kicking and screaming. He has matured and begun to implement coping skills that strenthen his personality. We on the other hand have the priviledge of being the so proud of him and his accomplishments. It's an amazing voyage of strength and determination. As far as Drs. go, I have been blessed to be at one of the top CF clinics in the nation, UNC-Chapel Hill. I will relocate to Atlanta soon and will commute to Chapel Hill 6-7 hours each way because of the exceptional care Ryan gets there. I am not sure if this will help with any of your questions but I pray it will show you its not all tragic. Tinaringding21@aol.com
Hi Jeff,I know your scared but don't terminate the pregnancy because of CF, having a child with a disease is a lot easier to live with than the guilt of choosing to terminate one. I can personally vouch for that on both ends. You will never regret your decision to love and care for your precious child. That child needs you and you can take care of him or her, no matter what he or she might have to go through. CF makes you appreciate every moment. I know you may not believe me about the guilt but it is true, ask anyone who has done the same thing, I am not the only one.
hello Everyone, this is Jeff, the original poster again,I wanted to come back and read the most recent posts, and let everyone know how much we appreciate the comments and advice, and two other things. 1. we decided that no matter what, we would continue the pregnancy, and 2. today we received our amnio results and the baby does not have CF. She will be a carrier of one gene mutation only.We are obviously thrilled, and at the same time, deeply appreciative. The last few weeks have been stressfull, but we've learned a lot: about CF, about each other, and about what's important.I hope everyone here continues to do well and improve and learn, and I hope to stay abreast of CF developments and spread the word about people becoming intelligently informed about CF.thanks again,Jeff
Augustmoon
New member
So extremely happy for you! <img src="i/expressions/face-icon-small-happy.gif" border="0">