Hey Y'all!
Ok, now that I have recovered from my drive up to Atlanta and back, I can sit down and put all of my thoughts together.
First I want to say THANK YOU to all of you who gave me suggestions for questions to ask and who also made other suggestions like have two copies of your questions, have a notebook, etc. Everything everyone mentioned came in handy, and it was wonderful to be able to piggyback on your experiences.
I'm going to post a summary of the visit, then, at the bottom, I'm going to put the specific questions I asked at this point and the answers I received from the CF team (I didn't just meet with Jacqueline the Nurse Practitioner, I was able to speak with both Nurse Clinicians and the Nutritionist as well) at Emory's/Children's Healthcare of Atlanta/Egleston's CF clinic.
Basically, the NP reaffirmed EVERYTHING you all have been telling us about Abby's diagnosis and how CF works. That was a relief, not because I didn't believe you all, but because it gave Dave and I a "real medical opinion" to pull out when his parents call us about the visit. We have decided that at this point there is nothing to tell them that would help them understand Abby's situation; so therefore, we are not going to call for a while. When they get curious, they'll contact us.
As for my concerns, all of them were addressed, which was nice...and of course, everything was general because Abby isn't here yet, but it wasn't doom and gloom. They were excited that we know this early and can start preventative care immediately after birth, which in theory, should help prolong a higher quality of life for her.
As for Lucy, she was cheek swabbed with 4 different swabs (the "required number" is 2, but they do 4 just to make sure they get enough). She was wonderful and didn't resist the swabbing. It will be at least 4 weeks before her results are in. As I told them at the clinic, in my gut, I feel like she's ok, it is my head and my heart that needs reassurance. They completely understood.
My mom was such an asset to have there. I couldn't have done it without her. She entertained Lucy while I spoke the staff. It was nice. She is such a tremendous support. On the drive up, she read my questions and really couldn't think of any others to ask. She was impressed with how well thought out they seemed to be. I bragged on all of you!!
Overall, I left feeling reaffirmed and recharged that we are doing what is right for Abby, and that we'll know about Lucybug. Jacqueline, the NP, bragged on how put together we/I seemed and that she could tell that we were going to be the type of parents that are going to put Abby first and not her CF...which should allow her to live as normally a life as possible. She was glad to see that I didn't see this as the end of the world. She also said that knowing this early really is a blessing. I'm sure our first visit with Abby will be more emotionally draining, but maybe not. Until she is (if ever) symptomatic, I am looking at all of this as preventative care. There's an analogy/example later, that I really liked that will/should help put this in perspective for anyone who asks us why we are doing what we are doing if Abby isn't "sick."
Ok, now for the clinic answers to my questions...
<b>Abby Related Questions</b>:
<b>Question #1</b>: Based on our research of Abby's CF gene combination (Delta F508 and R117H - 7T) we have read and received varied responses about the potential severity of her CF condition. When we have researched or have offered the gene combinations to find information on CFF.org and cysticfibrosis.com, we have ALWAYS included the 7T portion of the R117H gene mutation.
This is what we have learned and we want to make sure it is in line with what the clinic has seen before. Is there anything different that we should be aware of?
The individual can be any one of the following:
A. completely asymptomatic (some research mentioned that the combination would prove to never cause any problems for individuals and the mutation R117H-7T should be taken off the list as one to be tested for)
B. doesn't exhibit symptoms until late life (50's +)
C. symptoms begin to express themselves in late teens-30's
D. symptoms begin to express themselves as early as toddler hood
E. most research showed no or minimal digestive/pancreatic problems
<b>Answer #1</b>: She was delighted that we had done so much research on Abby's gene combination, and was perplexed by the letter A statement. She hadn't seen anything recently (in the past 2 years) to verify that. I mentioned that two articles had that type of result and that they were published in 2002 and 2003. She said that she would look into more recent research to see if that was the case, but she didn't think it was. She, in general, agreed with our assessment of Abby's potential situation; however, she did reiterate that regardless of the gene combination, all patients manifest symptoms differently or they can appear asymptomatic for years or even life. She also brought up an example of twins who have the same gene combination, but they show signs differently...one has digestive issues, the other respiratory issues. <i>She said that since everyone's DNA is different, there may be something in Abby's DNA (not CF related) that might trigger her CF gene to manifest only respiratory symptoms and start them when she is 12, instead of waiting until she is 50. We just don't know because the disease is essentially degenerative and works on an individual basis.</i>
<b>Question #2</b>: What can we do (non-medically/home environment) to help increase her quality of life so that she doesn't present symptoms early on?
<b>Answer #2</b>: She reminded me of her statement in Answer #1 that I italized, but she did say there were some "common sense" approaches we could take to Abby's care early on that have helped prolong symptoms (or the best they could tell): Avoid cigarette smoke (not a problem since 98% of our families are non smokers), lots of handwashing, avoid sick contact (if children are sick in the church nursery, take her into church with us, etc.), and use air filters at home if possible. When I told her that we were moving from an old house with mold and mildew problems into a 5 year old townhouse with new carpeting, etc. and that I was staying home a year, she thought those were good changes to promote Abby's health. She said she usually doesn't "encourage" a parent to stay home since so many families need two incomes to survive, but when parents can work it out, she supports it!
<b>Question #3</b>: Since we won't know her condition until she arrives in August or even many years later, what sort of preventive care (medical) should we do to help ensure her quality of life?
<b>Answer #3</b>: We need to watch and be aware of her nutritional needs. She mentioned that the R117H is USUALLY pancreatic sufficient so she suggested just keeping an eye on Abby's "poop" to see if there are any problems early on. She also suggested that we make our first clinic appointment with Abby at 6 weeks unless something seems odd or off...and she assured me that we (Dave and I) would know since we have already had one child and we will look for potential problems to take care of early on.
<b>Question #4</b>: Is there anything else we should know about her CF gene mutation combination?
<b>Answer #4</b>: She was puzzled by the research I mentioned in the first question and said they would do some additional research into the R117H-7T and let us know if she found anything more recent that would argue against us seeking preventative care for Abby.
<b>Question #5</b>: Family issue related to Dave's R117H-7T gene and "our geneticist says this, yours says that" how do we know which is correct?
Dr. Boddy (ours) says "2 CF genes = CF, the only question is the severity. Genetics is not an exact science and is not always concrete."
Theirs says "that in our Genetics Consultants opinion, Abby's diagnosis has been overstated. We found out that Dave's brother carries the CF change and modifier exactly as Dave does which is a non disease causing change and a non disease causing modifier. Which means regardless of a partners CF change it is virtually impossible for a fetus to be anything more than a carrier of CF. Genetics testing is either positive or negative, and even with a positive test result the severity of disease can be defined by analyzing the CF change the baby carries." Sister in law/Dave's parents have been throwing around the phrase, "she will be just like a carrier."
<b>Answer #5</b>: She said when two CF genes are present; an individual is diagnosed with CF regardless of symptoms present. Preventative care should be taken for the individual, especially at a young age and at this time, she was not comfortable calling R117H-7T a "non disease causing gene" regardless of the change and modifier as every individual manifests symptoms differently. She said that since I have the DeltaF508, that definitely muddies the water as to the severity of Abby's CF or when symptoms will manifest. She said that USUALLY, CF defaults to the "more mild" gene, but that is not always the case as every individual case is different. She also said that to assume the interpretation of the second genetic consultant would be narrow and could be potentially harmful to the child. It would be unethical and immoral NOT to treat Abby for CF since there are two CF genes. It would be bad parenting if we didn't pursue preventative care! She went on to use this example which makes perfect sense to me:
Ex: If both parents had diabetes when they got married and had a child, and if that child didn't have diabetes to begin with and they didn't encourage their child to exercise, eat right, and seek medical care from infancy or diagnosis of the "potential" to have diabetes...the parents would ultimately be contributing to their child's earlier onset of diabetes and would ultimately be hurting their child. (sorry for the nasty run-on sentence)
She went on to say that genetics is not a right/wrong or black/white science and that geneticists are not the end all be all of information related to CF, unless they specialize in CF and work in conjunction with a CF clinic. Any individual with two CF genes should not be classified as a "carrier of CF." That is incorrect and misleading. The individual may not present any symptoms their entire life, but they should still be classified as a CF patient who is asymptomatic to ensure they get quality preventative care. She said she would look into more recent research on the R117H gene since the last published research I could find was in Jan of 2003. She also said that new cases are reported in the US with the R117H-7T gene which would disprove its role as "a non disease carrying change (R117H) and a non disease causing modifier (7T)."
She also said that our struggle with folks who don't understand how we can KNOW that a child has CF before she arrives will only continue and will probably get worse as Abby most likely won't present symptoms until her 20's or 30's and folks will think we're nuts for doing preventative care. She said that in her professional opinion, we are doing the exact right thing for Abby. Preventative care for CF individuals enables them to be asymptomatic longer or to only have very mild symptoms early on than individuals without preventative care. That was a relief for me to hear.
<b>Question #6</b>: How soon after her birth would you want to see her? What would that visit be like?
<b>Answer #6</b>: Unless something seems wrong or off, we should make an appointment at 6 weeks and for at least the first year come monthly or every two months (depending on how she is doing). The minimum we should come for evaluations is once every three months. After that, it will be on an as needed basis, at least once a year.
<b>Question #7</b>: I plan on breastfeeding. Is there anything special I should do if Abby seems to need enzymes, etc.?
<b>Answer #7</b>: The Nutritionist was all about breastfeeding and was glad to hear that I wanted to breastfeed. She gave me a canister to "scoop poop" in after Abby's miconium (sp) passes so that they can test it to make sure there are no absorption issues. If there are, we'll head to Atlanta for a visit so they can get us started on enzymes. Otherwise, breastfeed, breastfeed, breastfeed!
<b>Question #8</b>: Even if Abby is asymptomatic for months/years, should we plan on making regular clinic visits?
<b>Answer #8</b>: Yes, yes, yes! We want to keep up preventative care! We'll know more about the frequency of visits after she arrives.
<b>Question #9</b>: Do we need to be concerned about meconium ilius? How should we handle this if there are problems at birth or shortly after birth? Can/Should we be doing ultrasounds now to see if there is a problem?
<b>Answer #9</b>: Discuss with my OB having another ultrasound done closer to the due date to see if there are any signs of blockage. If there are signs of blockage, call our perinatal doctor back to see if we can deliver in Macon so we can get Abby to Egleston faster. She did say that it was rare and "usually" doesn't occur with infants with usually pancreatic sufficient CF genes.
<b>Question #10</b>: Would we need any equipment at home such as a "SIDS" monitor? (We didn't need one with Lucy, but we didn't know about the risk of CF at the time.)
<b>Answer #10</b>: Unless Abby presents severe respiratory problems at birth; there should be no need for a SIDS monitor. We may need a nebulizer for Abby. She said we needed separate nebulizers for Abby and Lucy regardless if Lucy comes back CF positive. They will see and assess Abby before one is prescribed.
Ok, now that I have recovered from my drive up to Atlanta and back, I can sit down and put all of my thoughts together.
First I want to say THANK YOU to all of you who gave me suggestions for questions to ask and who also made other suggestions like have two copies of your questions, have a notebook, etc. Everything everyone mentioned came in handy, and it was wonderful to be able to piggyback on your experiences.
I'm going to post a summary of the visit, then, at the bottom, I'm going to put the specific questions I asked at this point and the answers I received from the CF team (I didn't just meet with Jacqueline the Nurse Practitioner, I was able to speak with both Nurse Clinicians and the Nutritionist as well) at Emory's/Children's Healthcare of Atlanta/Egleston's CF clinic.
Basically, the NP reaffirmed EVERYTHING you all have been telling us about Abby's diagnosis and how CF works. That was a relief, not because I didn't believe you all, but because it gave Dave and I a "real medical opinion" to pull out when his parents call us about the visit. We have decided that at this point there is nothing to tell them that would help them understand Abby's situation; so therefore, we are not going to call for a while. When they get curious, they'll contact us.
As for my concerns, all of them were addressed, which was nice...and of course, everything was general because Abby isn't here yet, but it wasn't doom and gloom. They were excited that we know this early and can start preventative care immediately after birth, which in theory, should help prolong a higher quality of life for her.
As for Lucy, she was cheek swabbed with 4 different swabs (the "required number" is 2, but they do 4 just to make sure they get enough). She was wonderful and didn't resist the swabbing. It will be at least 4 weeks before her results are in. As I told them at the clinic, in my gut, I feel like she's ok, it is my head and my heart that needs reassurance. They completely understood.
My mom was such an asset to have there. I couldn't have done it without her. She entertained Lucy while I spoke the staff. It was nice. She is such a tremendous support. On the drive up, she read my questions and really couldn't think of any others to ask. She was impressed with how well thought out they seemed to be. I bragged on all of you!!
Overall, I left feeling reaffirmed and recharged that we are doing what is right for Abby, and that we'll know about Lucybug. Jacqueline, the NP, bragged on how put together we/I seemed and that she could tell that we were going to be the type of parents that are going to put Abby first and not her CF...which should allow her to live as normally a life as possible. She was glad to see that I didn't see this as the end of the world. She also said that knowing this early really is a blessing. I'm sure our first visit with Abby will be more emotionally draining, but maybe not. Until she is (if ever) symptomatic, I am looking at all of this as preventative care. There's an analogy/example later, that I really liked that will/should help put this in perspective for anyone who asks us why we are doing what we are doing if Abby isn't "sick."
Ok, now for the clinic answers to my questions...
<b>Abby Related Questions</b>:
<b>Question #1</b>: Based on our research of Abby's CF gene combination (Delta F508 and R117H - 7T) we have read and received varied responses about the potential severity of her CF condition. When we have researched or have offered the gene combinations to find information on CFF.org and cysticfibrosis.com, we have ALWAYS included the 7T portion of the R117H gene mutation.
This is what we have learned and we want to make sure it is in line with what the clinic has seen before. Is there anything different that we should be aware of?
The individual can be any one of the following:
A. completely asymptomatic (some research mentioned that the combination would prove to never cause any problems for individuals and the mutation R117H-7T should be taken off the list as one to be tested for)
B. doesn't exhibit symptoms until late life (50's +)
C. symptoms begin to express themselves in late teens-30's
D. symptoms begin to express themselves as early as toddler hood
E. most research showed no or minimal digestive/pancreatic problems
<b>Answer #1</b>: She was delighted that we had done so much research on Abby's gene combination, and was perplexed by the letter A statement. She hadn't seen anything recently (in the past 2 years) to verify that. I mentioned that two articles had that type of result and that they were published in 2002 and 2003. She said that she would look into more recent research to see if that was the case, but she didn't think it was. She, in general, agreed with our assessment of Abby's potential situation; however, she did reiterate that regardless of the gene combination, all patients manifest symptoms differently or they can appear asymptomatic for years or even life. She also brought up an example of twins who have the same gene combination, but they show signs differently...one has digestive issues, the other respiratory issues. <i>She said that since everyone's DNA is different, there may be something in Abby's DNA (not CF related) that might trigger her CF gene to manifest only respiratory symptoms and start them when she is 12, instead of waiting until she is 50. We just don't know because the disease is essentially degenerative and works on an individual basis.</i>
<b>Question #2</b>: What can we do (non-medically/home environment) to help increase her quality of life so that she doesn't present symptoms early on?
<b>Answer #2</b>: She reminded me of her statement in Answer #1 that I italized, but she did say there were some "common sense" approaches we could take to Abby's care early on that have helped prolong symptoms (or the best they could tell): Avoid cigarette smoke (not a problem since 98% of our families are non smokers), lots of handwashing, avoid sick contact (if children are sick in the church nursery, take her into church with us, etc.), and use air filters at home if possible. When I told her that we were moving from an old house with mold and mildew problems into a 5 year old townhouse with new carpeting, etc. and that I was staying home a year, she thought those were good changes to promote Abby's health. She said she usually doesn't "encourage" a parent to stay home since so many families need two incomes to survive, but when parents can work it out, she supports it!
<b>Question #3</b>: Since we won't know her condition until she arrives in August or even many years later, what sort of preventive care (medical) should we do to help ensure her quality of life?
<b>Answer #3</b>: We need to watch and be aware of her nutritional needs. She mentioned that the R117H is USUALLY pancreatic sufficient so she suggested just keeping an eye on Abby's "poop" to see if there are any problems early on. She also suggested that we make our first clinic appointment with Abby at 6 weeks unless something seems odd or off...and she assured me that we (Dave and I) would know since we have already had one child and we will look for potential problems to take care of early on.
<b>Question #4</b>: Is there anything else we should know about her CF gene mutation combination?
<b>Answer #4</b>: She was puzzled by the research I mentioned in the first question and said they would do some additional research into the R117H-7T and let us know if she found anything more recent that would argue against us seeking preventative care for Abby.
<b>Question #5</b>: Family issue related to Dave's R117H-7T gene and "our geneticist says this, yours says that" how do we know which is correct?
Dr. Boddy (ours) says "2 CF genes = CF, the only question is the severity. Genetics is not an exact science and is not always concrete."
Theirs says "that in our Genetics Consultants opinion, Abby's diagnosis has been overstated. We found out that Dave's brother carries the CF change and modifier exactly as Dave does which is a non disease causing change and a non disease causing modifier. Which means regardless of a partners CF change it is virtually impossible for a fetus to be anything more than a carrier of CF. Genetics testing is either positive or negative, and even with a positive test result the severity of disease can be defined by analyzing the CF change the baby carries." Sister in law/Dave's parents have been throwing around the phrase, "she will be just like a carrier."
<b>Answer #5</b>: She said when two CF genes are present; an individual is diagnosed with CF regardless of symptoms present. Preventative care should be taken for the individual, especially at a young age and at this time, she was not comfortable calling R117H-7T a "non disease causing gene" regardless of the change and modifier as every individual manifests symptoms differently. She said that since I have the DeltaF508, that definitely muddies the water as to the severity of Abby's CF or when symptoms will manifest. She said that USUALLY, CF defaults to the "more mild" gene, but that is not always the case as every individual case is different. She also said that to assume the interpretation of the second genetic consultant would be narrow and could be potentially harmful to the child. It would be unethical and immoral NOT to treat Abby for CF since there are two CF genes. It would be bad parenting if we didn't pursue preventative care! She went on to use this example which makes perfect sense to me:
Ex: If both parents had diabetes when they got married and had a child, and if that child didn't have diabetes to begin with and they didn't encourage their child to exercise, eat right, and seek medical care from infancy or diagnosis of the "potential" to have diabetes...the parents would ultimately be contributing to their child's earlier onset of diabetes and would ultimately be hurting their child. (sorry for the nasty run-on sentence)
She went on to say that genetics is not a right/wrong or black/white science and that geneticists are not the end all be all of information related to CF, unless they specialize in CF and work in conjunction with a CF clinic. Any individual with two CF genes should not be classified as a "carrier of CF." That is incorrect and misleading. The individual may not present any symptoms their entire life, but they should still be classified as a CF patient who is asymptomatic to ensure they get quality preventative care. She said she would look into more recent research on the R117H gene since the last published research I could find was in Jan of 2003. She also said that new cases are reported in the US with the R117H-7T gene which would disprove its role as "a non disease carrying change (R117H) and a non disease causing modifier (7T)."
She also said that our struggle with folks who don't understand how we can KNOW that a child has CF before she arrives will only continue and will probably get worse as Abby most likely won't present symptoms until her 20's or 30's and folks will think we're nuts for doing preventative care. She said that in her professional opinion, we are doing the exact right thing for Abby. Preventative care for CF individuals enables them to be asymptomatic longer or to only have very mild symptoms early on than individuals without preventative care. That was a relief for me to hear.
<b>Question #6</b>: How soon after her birth would you want to see her? What would that visit be like?
<b>Answer #6</b>: Unless something seems wrong or off, we should make an appointment at 6 weeks and for at least the first year come monthly or every two months (depending on how she is doing). The minimum we should come for evaluations is once every three months. After that, it will be on an as needed basis, at least once a year.
<b>Question #7</b>: I plan on breastfeeding. Is there anything special I should do if Abby seems to need enzymes, etc.?
<b>Answer #7</b>: The Nutritionist was all about breastfeeding and was glad to hear that I wanted to breastfeed. She gave me a canister to "scoop poop" in after Abby's miconium (sp) passes so that they can test it to make sure there are no absorption issues. If there are, we'll head to Atlanta for a visit so they can get us started on enzymes. Otherwise, breastfeed, breastfeed, breastfeed!
<b>Question #8</b>: Even if Abby is asymptomatic for months/years, should we plan on making regular clinic visits?
<b>Answer #8</b>: Yes, yes, yes! We want to keep up preventative care! We'll know more about the frequency of visits after she arrives.
<b>Question #9</b>: Do we need to be concerned about meconium ilius? How should we handle this if there are problems at birth or shortly after birth? Can/Should we be doing ultrasounds now to see if there is a problem?
<b>Answer #9</b>: Discuss with my OB having another ultrasound done closer to the due date to see if there are any signs of blockage. If there are signs of blockage, call our perinatal doctor back to see if we can deliver in Macon so we can get Abby to Egleston faster. She did say that it was rare and "usually" doesn't occur with infants with usually pancreatic sufficient CF genes.
<b>Question #10</b>: Would we need any equipment at home such as a "SIDS" monitor? (We didn't need one with Lucy, but we didn't know about the risk of CF at the time.)
<b>Answer #10</b>: Unless Abby presents severe respiratory problems at birth; there should be no need for a SIDS monitor. We may need a nebulizer for Abby. She said we needed separate nebulizers for Abby and Lucy regardless if Lucy comes back CF positive. They will see and assess Abby before one is prescribed.
