Looking for Help/Clarification on CF

[Kathryn Sneed]

Hi,
I am new here and hope this is the right place to be. My daughter is 17 months old and has a long, complicated medical history including severe reflux, aspiration, lyrangomalasia, Failure to Thrive, severe central and obstructive apnea, low muscle tone, many sinus infections, and wears orthotics to help her walk. She has been hospitalized 7 times and had surgery where they did a nissen fundoplication and G-tube at 3 months old. She also has problems with digestion (large amounts of undigested foods in stool) and has a hard time gaining weight even with the G-tube. She also has re-current infections and has never responded to antibiotics. Full immunology work-up found nothing.

We have been looking for answers she was born and recently moved to Colorado Springs. Within a few weeks of seeing specialists here, they decided to do a sweat test to look for Cystic Fibrosis (it was done at a CF foundation accredited place with Colorado Children's Hospital). Her sweat test was intermediate borderline with the right arm being 46 and the left arm being 50. They tested for the more common forms of CF and they all came back normal and now are testing for the more rare forms. We should find out test results June 1st.

In Georgia where we live before her pancreatic elactase was 196 indicating pancreatic insufficiency. They re-did the pancreatic elactase test here and it is now 372 - a HUGE discrepancy. The doctors are telling me they have never seen it go up only down and they are not sure what that means.

I guess my question in all this is... what is our next step? We just want answers and to help our daughter. The wait for the rare test results is killing me. We have no history of CF in the family and this is all confusing. What if the blood test results still don't show anything abnormal?

If anyone has any experience or insight, I would appreciate it so much!

 

[Aboveallislove]

Dear Kathryn,
I am so very sorry. Your daughter and you have been through so much. And the wait has to be so hard. There are nearly 2000 CF mutations, so it is definitely possible that she has some of the "rarer" mutations and there isn't much to do from a "knowing" standpoint but to wait. Are the doctors those proactively treating her with any medicines given her borderline sweat test and the pancreatic insufficiency? There are many here who have had borderline and even negative sweet tests who have mutations identified and are diagnosed with CF or CF related metabolic disease. (And many who have never heard of a family member having CF--I have 34 cousins and who knows how many second, third, etc. and no one I know has or even knows they are a carrier!)

As hard as CF is, there are two pieces of "good" here: 1) that she will do so much better with the proper treatments; and 2) CF today is NOT what it was. There are many more drugs to help keep folks healthy and we are at a new stage where drugs to fix the underlying defect of the CFTR are available and more are in the works. If it comes without any mutations, I am not sure what the doctors will recommend, but given her borderline results and other issues, it would seem prudent to still follow many of the protocals.

I am so sorry. Please let me know if there is anything further we can help explain. And also know of my prayers for you all.

 

[nmw0615]

I really don't have much to add, except to say that if she does have CF, the care at Children's Hospital Colorado is spectacular, in my opinion. I was treated there from the time I was 8 weeks old until I was almost 21. The team there was always fantastic to me.

I'm sending all my positive thoughts to you and your family.

 

[Aboveallislove]

One other thought: Have they cultured her throat and or sinuses to see if she is growing any of the "typical" CF bacteria? (Not sure when you say recurrent infections if you mean respiratory or otherwise...if respiratory and she isn't responding to antibiotics it might be that the bugs she cultures are resistnent to the ones they tried. CF centers do quarterly cultures and test to see what the bugs are susceptible to.

 

[Kathryn Sneed]

Dear Kathryn,
I am so very sorry. Your daughter and you have been through so much. And the wait has to be so hard. There are nearly 2000 CF mutations, so it is definitely possible that she has some of the "rarer" mutations and there isn't much to do from a "knowing" standpoint but to wait. Are the doctors those proactively treating her with any medicines given her borderline sweat test and the pancreatic insufficiency? There are many here who have had borderline and even negative sweet tests who have mutations identified and are diagnosed with CF or CF related metabolic disease. (And many who have never heard of a family member having CF--I have 34 cousins and who knows how many second, third, etc. and no one I know has or even knows they are a carrier!)

As hard as CF is, there are two pieces of "good" here: 1) that she will do so much better with the proper treatments; and 2) CF today is NOT what it was. There are many more drugs to help keep folks healthy and we are at a new stage where drugs to fix the underlying defect of the CFTR are available and more are in the works. If it comes without any mutations, I am not sure what the doctors will recommend, but given her borderline results and other issues, it would seem prudent to still follow many of the protocals.

I am so sorry. Please let me know if there is anything further we can help explain. And also know of my prayers for you all.

Thank you. I guess I am so afraid that this isn't the answer (not that I want her to have CF) and that we will be left at square one and not know what to do. No, the doctors really don't know what to do at this point. We see her GI next week for the first time here so I'm hoping that will get us somewhere. No one wants to treat yet until they the genetic results get back. Plus they don't know if she really has pancreatic insufficiency because the two pancreatic elactase results were so different.
[h=3][/h]

 

[Kathryn Sneed]

I really don't have much to add, except to say that if she does have CF, the care at Children's Hospital Colorado is spectacular, in my opinion. I was treated there from the time I was 8 weeks old until I was almost 21. The team there was always fantastic to me.

I'm sending all my positive thoughts to you and your family.

Thank you, so good to hear! so far we've had excellent care here.

 

[Kathryn Sneed]

One other thought: Have they cultured her throat and or sinuses to see if she is growing any of the "typical" CF bacteria? (Not sure when you say recurrent infections if you mean respiratory or otherwise...if respiratory and she isn't responding to antibiotics it might be that the bugs she cultures are resistnent to the ones they tried. CF centers do quarterly cultures and test to see what the bugs are susceptible to.

They did culture her sinuses once before we knew about the possibility of CF. It came back with Haemophilus influenzae (the good kind - whatever that means). Recurrent infections include G-tube site infections - cellulitis, the sinus infections, and getting sick a lot. She's had no respiratory issues that we know of.

 

[Printer]

I understand that your DD is being seen at Colorado Children's Hospital, which is an Approved CF Clinic. Is she being seen by a CF SPECIALIST? For example, Massachusetts General Hospital is an Approved CF Clinic, with more than 2000 Doctors on staff but only about 8 of these Doctors are CF Specialists.

It is critical that DD be seen by a CF Specialist.

Bill

 

[Aboveallislove]

Hey Bill,
How do you determine if a doctor at a CF Center is a CF specialist? Ours is the assistant chair of the CF Center and does CF studies so I assume she is, but is there an easy way to check??? Haven't seen you around as much, so hope you are doing well.

 

[Printer]

CFF lists the CF Department heads, so start there. The other question would be "what percentage of the patients that you see have CF"?

Bill

 

[Kathryn Sneed]

I understand that your DD is being seen at Colorado Children's Hospital, which is an Approved CF Clinic. Is she being seen by a CF SPECIALIST? For example, Massachusetts General Hospital is an Approved CF Clinic, with more than 2000 Doctors on staff but only about 8 of these Doctors are CF Specialists.

It is critical that DD be seen by a CF Specialist.

Bill

No, she is being seen by a pulmonologist. And we are seeing a GI that is CF certified next week. I asked and asked about seeing a CF specialist and they just kept telling me that Dr. Houser in Pulmonology was who we were going to see. I think they wanted us to see her and then if my daughter's genetic testing came back abrormal then​ they would let us see a CF specialist. Sound right?

 

[Printer]

In my simple opinion, the answer is NO!!! With what you have said here, she should be seeing a CF Specialist.

Bi;;

 

[Printer]

Scott Sagel, MD, PhD, is the Director of Pediatrac CF at Colorado Chlldren's Hospital. For an appointment call 720-777-6181

Bill

 

[Kathryn Sneed]

Scott Sagel, MD, PhD, is the Director of Pediatrac CF at Colorado Chlldren's Hospital. For an appointment call 720-777-6181

Bill

Thanks for the info and opinion. I wish it was as easy as just making an appointment, but we need a referral for insurance to pay for it, and I know they won't put in a referral for it until we get the genetic results back. I will definitely keep this option in my back pocket though. Would you say that even the genetic results came back normal that I should still push to see a CF specialist?

 

[Printer]

I would call my PCP today to get a referral. Do you know how many mutations that they are testing?

 

[Kathryn Sneed]

I would call my PCP today to get a referral. Do you know how many mutations that they are testing?

They just said they tested for all the common forms and it came back normal. And then they sent it out again to test for more rare forms and that it would take 6 weeks.

 

[zaj1139]

When my grandson was first dx he had been in and out of hospitals for almost a year. The dr's kept saying he had asthma. It was not until he was ambulanced to Scottish Rite Children's Hospital here in ATL that a dr saw him and just knew he had CF. We were skeptical because my dtr was tested when she was pregnant. They advised her that she was a carrier but the Baby Daddy came back clean. It was not until his sweat test in SRCH came back positive for CF they tested for more mutations. Not only did he have two he has three. The Baby Daddy gave him the two. Just thought I would throw my two cents in as we had no idea that they only test "for the most common" I mean why bother if you will get a false negative. Good Luck to you and yours though, praying for you all.

 

[Printer]

I would guess that they tested for the most common 32 mutations. Then, likely, they tested foe 200 mutations. There are almost 2000 known mutations, you do the math. It will be a long summer!!

If it wasn't for my CF Doctor ordering a FULL CF SEQUENCING, I would not know my second mutation.

Bill

Bill

 

[Aboveallislove]

Bill's likely right that they sent it out for the next common 200 mutations. Something to keep in mind if they come back and say they didn't find any mutations. In fact, you might call and ask for how many mutations they were testing for so you know. If they only did 200 and come back and say didn't find any, at that point you'll definitely need to get a full gene sequencing. Unfortunately many doctors won't order (and insurance companies won't pay) for the full sequencing until the other tests come back negative.
This has to be so hard. I am sorry. Hugs and prayers,
Love

 

[Kathryn Sneed]

Wow well if that is the case, then what is the point? Why wouldn't they check all of it at once. Makes no sense. I am definitely going to check into this on Monday. Thank you guys for your help!