New to all of this Looking for some help

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Shannon Donahue Williams

New member
I am not sure if I post in here or not most of what I have seen it about babies. Anyways I will give it a go.

I am 24 years old and 21 weeks pregnant with my second child. My O.b. did a blood test which showed I have two mutated genes and says I have Cystic Fibrosis. I go this coming Monday to a genetic specialist.
I am having a difficult time excepting that I have this, due to my age and second pregnancy, I do not understand how it could have not been found until now. On top of that I am overweight. I didn't get the exact gene mutation because I only got to glance at the paper. I have no idea what to get together for the appoint this coming Monday.
I could use any input I can get here to help me better understand everything. What should I ask the Genetic specialist? Does anyone know what will happen when I see them? Does anyone know if me having it makes my children able to get it easier? My first son hasn't been tested yet and neither has my husband. I expect we will discuss that stuff Monday?
Thank you for reading and hope to get some helpful replies.
 
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sdeuber

Guest
no panic!!! the fact that you had no symptoms so far (and have not been diagnosed until now) is all GOOD news! you probably have what is labeled as "adult CF", typically a milder form that does not show symptoms until later and is often diagnosed with a gene test only.
The geneticist will take a blood sample and should probably take one of your hubby as well. They then determine what genetic setup you have and what it means.
Then you should find a CF center and discuss what your particular genetic setup means healthwise. Take it step-by-step! Lots of great resources out there for adults and lots of great drugs out there to make us better!
 
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Nugget1

New member
Hi! First let me say congratulations on your second pregnancy! I do not have CF but my daughter does so my response to you is coming from that side of the CF puzzle. I have never heard of anyone personally that has been diagnosed at your age. That being said it doesn't mean that it doesn't happen. I would just have a few questions for you initially. You stated that you are overweight, so I am assuming that you never experienced a poor weight gain? Do/did you have any signs of the tell tale cough? Did you have any difficulty in becoming pregnant? I know that there are probably more people in this forum that have more insight than I and I hope that they write in to help you with some more informed information. Only after my daughter's diagnosis did I try to recollect anyone in my family having CF. After speaking with my mother she was able to recall that my father had a brother born before him in 1935 or 1936 that only lived to the age of 15 months old. My grandmother had told her that he was a very small baby who even though he had a voracious appetite was never able to gain weight and his stool was extremely bulky and smelly. There was the connection. Thankfully where I live the CF test is part of the maternal screen so when I tested positive as a carrier my husband was also tested and too was determined to be a carrier. That would be another question I would have for you, did your OB say that you have CF or that you are a carrier? Ten million people in this country alone are symptom-less carriers. If you in fact have CF then you will in fact pass at least one defective gene to your offspring. In order for CF to be present there MUST be two defective genes, only one and you're a carrier. I have learned that even when someone has been diagnosed later in life that upon reflection they have always had some indicator that could have lead to an earlier diagnosis but that simply didn't. I would hope for you that perhaps your OB was mistaken and your appointment with the genetic specialist can put any fears to rest, but if in fact you have CF I will say to you what my daughter's doctor said to me when she was sweat tested "There is no better time to have CF than right now. So many advances have been made toward treating this disease." This forum is a great place to just vent not even to get answers, keep inquiring. Once again congratulations!
 
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Shannon Donahue Williams

New member
Thank you for the replies,
No never had any problems gaining weight I have always been on the bigger side. As far as TTC it took a little while the first successful pregnancy before that I had 4 miscarriages. With this one I planned it and had no problem. Coughing I never have had a persistent cough other than that of a cold. I had walking pneumonia once when I was 17. I get sick every year normally one of the last around me and I always get it the worst just figured its because the virus has gotten stronger as it gets passed.
I have digestive problems though, I had my gall bladder removed at 28w pregnant with my first son. The result was that I had severe scaring from having Gall stones for a long time. I never knew it till pregnancy. I always have problems with acid reflux even now.
As far as like BM I have issues with constipation and back and forth with it. I figured that was just something passed on. I have no idea what the gene traits are that i have as I didn't get a good look at the paper my O.B. had.
Either way nothing that ever made me question further.
 
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MichaelL

New member
I was diagnosed at 34. I had a series of lung infections that wouldn't clear up and eventually they tested me genetically for CF. Symptoms and individual experiences vary a lot based on your mutated genes, which infections you have in your lungs, as well as other personal factors. Most people with CF have lung problems and pancreatic problems. My pancreas works fine so I am not as thin as many people with CF. This may be the same for you. My case also doesn't register with a sweat test. If you were tested at some point this way, it's possible it could have produced a false negative. Or you have never been tested because it's not a common disease and I'm guessing you didn't know your parents were carriers.

There are so many things to learn about CF, but it doesn't have to happen all at once. It's also important to remember that each person is affected differently. You may read some things that worry or scare you. It is a tough disease, but at this point I assume you are pretty healthy given how you were diagnosed. One of the keys to staying healthy is keeping your lungs clear. You'll learn more about this when you see a CF doctor.

When you see the geneticist, I would ask him for a copy of the report that shows your mutations. Also, ask which class this is and how moderate/mild your case is. I suspect it will be mild. I think the CF team will be the more important opportunity to ask questions. It's important to learn your medical regimen to stay healthy. Also, you'll want to learn if you have any infections in your lungs. There's a thread on here for questions to ask at your first visit to a new clinic. These are more making sure they're following proper procedures, but you may want to take a look.

I would suggest that your husband get tested. If he is not a carrier, you don't have to worry about your children having CF. If you have siblings, they should probably get tested, too. Both of my brothers were carriers. Both of their wives were then tested and were not carriers.

Good luck -- a new diagnosis and a pregnancy is a lot to deal with at once.
 
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Nugget1

New member
I agree with not going into complete panic mode. You have a lot on your plate. Take everything one day at at time!
 
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Shannon Donahue Williams

New member
Thank you guys it helps a lot and yes most of what I find online is pretty scary stuff. I literally just found out this week and its been a non stop crying mess until today. Today seems a bit easier on my mind. Its nice to know someone else didn't find out until later also. And thank you again Micheal for helping with more questions and things to do.
So You are living with it now is your case mild? or severe? did you have to start taking medicine as soon as you found out? Do all CF patients have to take medicine or does it depend on the severity? Sorry I just have a lot of questions for you now.
 
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Printer

Active member
Shannon:

I was diagnosed at age 47 so let me see if I can help. Because you have been diagnosed with CF, you will not become sicker than you have been. Frankly, as you are treated by a CF Specialist at a Approved CF Center, you will be healthier.

It is really important that you go to your nearest Approved CF Center. If you will tell us, what big city that you live near, we will direct you to that center. The Doctors that you are seeing now, are not capable of treating CF.

Bill
 
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Shannon Donahue Williams

New member
Printer said:
Shannon:

I was diagnosed at age 47 so let me see if I can help. Because you have been diagnosed with CF, you will not become sicker than you have been. Frankly, as you are treated by a CF Specialist at a Approved CF Center, you will be healthier.

It is really important that you go to your nearest Approved CF Center. If you will tell us, what big city that you live near, we will direct you to that center. The Doctors that you are seeing now, are not capable of treating CF.

Bill
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I will be seeing a genetic counselor or specialist this Monday not sure which In Columbia Missouri. Which is an hour away. I am about three hours from St. Louis and 3 from Kc. So then do all cf patients no matter how severe have to take medicine? I ask because I have trouble just remembering to take my prenatal.. I am horrible with keeping a schedule. I know I will have to change a lot of things. Since it was my O.B. that told me, will the specialist have to confirm it by running more tests? If so which ones will be done? Sorry I just have so many questions and Seems I can't find answers to some questions by just google searching.
 
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John O

Guest
Hi Shannon,

My name is John i am a 28 year old male cfer. I was a late diagnosis close to 13 years old. My CF is mild based on my gene combo. I have a 3849 10Kb C->T and a DF508 gene. I was able to have a miracle daughter through IVF with my wife. She is a CF carrier and was found to be infertile. I work full time, went to college graduated, i own a home, I have had many dreams come true.

I know this is a shock to you to have this diagnosis. I want you to know that WE are all here for you. In fact, I love talking about CF and answering questions. I suggest no longer googling everything as there are so many horrible stories out there. So when you go to the genetics specialist they will review your mutations. It is so important that you know the two genes you have and what class they are in. Why? Bc I assume you have heard of Vertex and Kalydeco? Well that is all of our tickets to hopefully better days with this disease. Let me know when you find your mutations out bc I am very addicted to all the Vertex stuff they have floating around. I would love to help.

As for pills and you not remembering.........Well there some people who are not very sick with CF and I am not sure how sick you are. If you are not pancreatic sufficient then you will have to take pills with every meal. It's not bad at all in fact it becomes like wearing a seat belt. Then you will have to do what is called airway clearance again its like wearing a seat belt after you get use to it.

You will need to find a CF specialist as they are the ones who should and will be treating you. Here is a list in Missouri. http://www.cff.org/LivingWithCF/Car...tion-accreditedCareCenters/index.cfm?state=MO

I go to my clinic about every 8 weeks.

So this is all new to you and I suggest getting your husband and your other offspring tested. I think you said you have a son???? How about any brothers and sisters? They should be tested as well. If your husband is not a carrier there is no concern for the baby you have growing right now.

Please take a deep breath in and think positive. I would love to talk with you and answer any questions you may have. Here is my blog site so you can read about my CF life. Everyone is different even people with the same two CF genes!!!!


http://livingmydreamswithcf.blogspot.com/


John
 
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Shannon Donahue Williams

New member
Thank you John. I should find out the genes Monday I have two sisters one older who is a half sister and she is very distant as she just found out about us. My other sister had her second son this past week and they will be testing her at her next appointment to see if she is a carrier. That way if not she knows she has nothing to worry about. Yes I have one son atm and the next is due in Dec. Thank you for posting the links I will definetly look into them. As far as how I am now, I am healthy no problems as far as I am aware I guess like I said they will do more testing to make sure. I have no idea.
 
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Printer

Active member
Your OB had to send the blood to a "special lab" so I seriously doubt that there is an error in the results.

CF is not only one disease, that is there are a world of variations. There are almost 2000 known mutations, any two will cause CF. You are clearly on the mild end of the spectrum. Most of us take a pill with meals.

Depending upon your Husband and given that does not have a mutation, both of your children will be "carriers". The Doctor will explain that but it simply means that they will be untouched by CF. If they were to marry another CF carrier, there would be a 25% chance that they could produce a child with CF.

One more thing, CF is a genetic disease, you are born with it. There is no such thing as ADULT CF.

Relax, CF is not that big a deal any more.

Bill
 
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Printer

Active member
The ADULT Cystic Fibrosis Center is located at Children's Hospital, University of Missouri, Health Science Center. The Director is Melissa Kouba, MD. The phone number is 573-882-6978.

Bill
 
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Shannon Donahue Williams

New member
Printer said:
Get the Doctor's email address, so that you can ask follow up questions after you get home.

Bill
Click to expand...

Oh such a good piece of advice, I would have actually never thought of asking for their email. I have been writing a list of questions down and my family history just in case its needed. I only Have 6 questions so far you would think I would have a lot , but I am only thinking of my most important ones I suppose.

You all are so very helpful I am glad I finally decided to join the forum.
 
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welshwitch

Guest
Welcome Shannon! Just another chiming in -- you are not alone. Lots of adults are diagnosed with CF, many after becoming parents. CF is a disease that is so varied, on such a spectrum, with so many outcomes and so many genetic possibilities that more and more people are being diagnosed with it later in life. It is scary, it is a lifestyle change, but you will handle the transition like a champ. Also wanted to chime in and say thank you for sharing your story -- people like you are an inspiration to adults with CF who may want to be parents one day. I'm a 33 year old woman w. CF and my health is great so far.

Stay strong.
 
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kristal k

New member
HiJ
First, congratulations on your pregnancy!
I was diagnosed at age 1, because of my dietary issues. By the time I turned 12 I showed no symptoms other than a cold/bronchitis once or twice a yr, and if I watched my oily food intake showed no symptoms w/o using enzymes (fat soluble vitamins are harder to absorb- a,d,e & k). My dad was convinced my dr was wrong so we stopped seeing the cf clinic. About 3 yrs later I started having some cramps and constipation- later having a blockage and needing gallbladder, and appendix removed. I was later informed that this can happen without taking enzymes before eating, even though I wasn’t having problems immed. Now they have actual genetic marker testing which is as accurate as u can get, unless they switched ur sample with someone else, u have it. If ur husband is a carrier- has 1 marker, then there is a 25% chance that ur baby will have it, but if he isn’t a carrier ur baby will just be a carrier.
It actually is a very good thing ur dr checked and found it. There are many things u can do to live symptom free, probably for the rest of ur very long life. I have two major suggestions: first- do yoga. The attention to breathing and stretching is a major help in keeping the infections at bay. I don’t want to scare you, but if you get a lung infection and don’t completely get rid of it & just push through you could start a downward spiral. Lung function is easy to maintain, but really hard to recover from. Second, be mindful of your body and do research. Most cf clinics are very vigilant, because they have to be. Just remember when they give you a long list of medications you ‘have’ to do every day, you do have a choice, so be very vocal. Most cf doctors started with children and with really bad cases, so when dealing with adults they don’t always expect you to have an opinion or questions. The enzymes are non-invasive and they have some low dose ones now. Most drs automatically start antibiotic cycles and breathing treatments. It is important to keep ur lungs clean from mucus- bacteria grows fast- and do antibiotics when u aren’t well, but they do have side effects and using them when you don’t need them causes resistance, so they don’t work as well when you do need them. Just ask if the meds they want you to take are necessary for the current bacteria growing.
There is also a new genetic therapy that actually works with the cause of cf (for marker g551d), there are big advances on the horizon!
Sorry so long winded…. I hope this helpsJ

p.s. the meds can be expensive, but all the drug companies have copay assistance programs usually reducing your out-of-pocket to 0-$30. Zenpep (low dose enzyme) has a discount card, and a program called live 2 thrive that will send you free water soluble vitamins and a case of boost every month, plus a points program with free stuff. The vites really help my energy level and immune system.
 
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