Working Towards Diagnosis - Fearing CF

[ChelseaLu]

Hello everyone! I have a 17 month old son who I fear may have CF. He is in the process of being worked up for poor weight gain, malabsorption, and iron-deficiency anemia. Among his symptoms, include poor weight gain (he's in the 14th percentile), malabsorption (he eats like a linebacker and at 17 months old still hasn't tripled his birth weight), has increased fat in his stool, has microcytic/iron-deficient anemia despite being on the max dose by weight of iron, has a persistent, phlegmy cough (he's in daycare, had RSV at 5 months old that did not require hospitalization but has never seemed to clear this cough/cold since September of last year), has discolored teeth (from what I assume is poor calcium absorption), has loose, foul smelling, greasy appearing stools (and will have anywhere from 3-5 VERY full BMs every day). He has had normal thyroid testing, hemoglobin electrophoresis, comprehensive metabolic panel, CBC (with the exception of the microcytic anemia), low iron despite supplement, increased fecal fat (100 droplets), negative ova/parasite, negative stool culture. He has not had sweat testing done yet, and I have asked his doctor to refer us to a CF center locally to have that performed (I'm waiting to hear back from him today so I can schedule the testing). With the research that I have done looking for ANY possible answer, CF always comes up at the top of the list and seems to match all of his symptoms. His newborn screening was negative, but I know that is only 80% sensitive and only covers 40 variants. My doctor had wanted to wait until his 18 month appointment to recheck some labs to see if he had any improvement with weight gain and his iron study, but the more I try to be a patient parent the more I find myself having high anxiety and losing sleep over this. As much as I hope to not be right, I feel in my heart that CF is the diagnosis that not only makes the most sense, but also seems the most likely.

I tried to talk to my husband about my fears and concerns, and he said "Let's not start worrying until we have something to worry about." Obviously, that isn't going to change my fears or anxiety, and it's only making me feel like I can't talk about this with him because he isn't ready to talk about it. It is certainly not that he doesn't care, but I think that the idea of this diagnosis is so frightening to both of us that if he doesn't talk about it then it isn't really a possibility. I'm not really sure what my question is, or what I am looking for, but I just need to talk to other parents who have been through this uncertainty prior to a diagnosis before, and get some reassurance that even if his sweat test is positive, that things are going to be okay, or at least have realistic expectations of what may lie ahead for my beautiful boy. I already worry about the typical parenting stuff like whether or not reckless drivers are on the road with us, but the idea that my son my have a condition with a life expectancy attached to it terrifies me to no end. Any help or encouragement is appreciated! Thank you in advance.

 

[Ratatosk]

Any doctor can request basic cf blood testing. When DS was born the neonatologist at our local hospital ordered a basic (90) mutation panel after suspecting CF. DS came back with one of the most common mutations. Another friend of mine's pediatrician ordered a sweat test to "rule out" cf...

Based on his symptoms, I would stress to your doctor that something isn't right and push for a referral and or additional testing.

 

[ChelseaLu]

Thanks for the input! My son's doctor has been really receptive to my concerns and we have been working together during this work up (I'm also a PA, so he and I are kind of working together on the differential diagnosis). We do have a CF-certified children's hospital nearby, but because I am in the military I can't just call over and get an appointment, I have to have a referral from my PCM. Unfortunately, my son's doctor has been on emergency leave for the last two weeks and only returned to the office today, so I left a message for him to call me to discuss this. Hopefully he will get back to me today, but I understand if he is a little backed up having just returned to the office after being gone for a couple of weeks. Or, at least the rational side of me is telling me to be patient, while the irrational part is saying that my son is his only patient that matters

 

[Tnjackson2]

Hi ChelseaLu! I understand your anxieties and fears very well and sympathize. My son got his cf diagnosis a few weeks after birth, and I was already suspecting something was really not right with his digestion and his stools. He also had not gained that much weight back since we went to his first peds appt out of the hospital. Before starting the enzymes, the stools were oily, typical orange color, foul smelling, and were many times a day. His fecal fat test showed too much fat in stool, and fecal elastase test was very low value = severely pancreatic insufficient. Due to your lo's symptoms I'd definitely push for the sweat test just to help rule cf out. If it's not that, could it be CRMS? Or insufficient pancreas? I don't know about the phlegmy cough. I do know it's a terrifying thought that it may be cf; I'm still coming to terms w/ it. But the treatments it seems really are getting better and better, and it WILL be ok even if it is cf. It's coming to terms with the fact that it's not the life for your sweet boy that you had thought it would be, but he will still have a wonderful life with your help and guidance!! It's just some extra pills, meds along the way. There are soooo many positive posts and stories of people on here who've been doing awesome things and cf is just a PART of their life. Well sorry for the book, but good luck in getting to the bottom of your son's symptoms!

 

[ChelseaLu]

Thanks for the encouragement Tnjackson2. I spoke to my son's doctor late yesterday afternoon, and he is ordering the sweat test. Hopefully we can get it done this week or early next and have some answers, or at least another possibility ruled out so that we can move forward! Best of luck to you and Everett!

 

[imported_MaggieB]

Not sure if this will help, but I just wanted you to know that CF is a different disease than it was when I was diagnosed at birth. I'm a relatively healthy 40 year old. I've been married for 15 years, I have amazing nieces and nephews, my family is great. I am on disability, but I manage OK. Life has been an amazing gift, and I wish health and happiness for your son in whatever way he gets that.

 

[imported_MaggieB]

Also, keep us posted!

 

[ChelseaLu]

Maggie, thank you for sharing that. It does make me feel better to know that it is possible to live a full, healthy life with CF. I tend to consider the worst-case scenario, mostly because it helps me prepare for whatever is ahead. Then, if it turns out to be not so bad, then it's a pleasant surprise rather than the bad stuff I was preparing myself to handle. My son is loved, he is happy, he loves to play, and regardless of what lies ahead he will continue to be loved, and happy, and play If we have to make adjustments in our life to accommodate appointments, medications, and whatever the new "normal" becomes, then we will do it as a family. I did talk to my husband again last night and broke down. I told him that even though I know that he and I handle things differently (he tends to be the rock and keep his emotions private where I need to talk my feelings out) that I needed to be able to still talk to him about how I felt. So we talked, and I cried, and he told me that he is worried too, but he isn't ready to consider this until we have the sweat testing and have an answer. Thank goodness one of us is the sane one

I called the referral management office this morning, and hopefully the referral will be processed by tomorrow and I can get this scheduled with the testing center. They said they can usually get people in by the end of the week, so I'm crossing my fingers that I will be able to get an answer no later than the end of next week. I've never been accused of being a patient person, so I'm hoping that it's soon! But just knowing that the referral is in, and we may soon have an answer (whatever that is) has already given me a huge feeling of relief. I will definitely update as we find out more. Thanks again for all the well-wishes and advice everyone!

 

[lauryn.tubes]

Chelsea Lu - i was active duty air force for 5 years and understand that Tricare can be difficult. I'm not sure if you're standard or Prime, but I suggest you look into switching from Tricare Prime to Tricare Standard. You have to pay a little (I believe the deductible is really low...$200) but you get to see off base doctors. Meaning, you're not stuck with trying to find a doctor on base (who is always booked out MONTHS). We switched to standard for our children and were much happier with that arrangement. It allowed for my husband and I to get genetic testing to ensure my eldest son didn't carry both mutations that my youngest daughter popped for (he was born in montana, she was born in CA...different CF screening processes). It also allowed for us to choose doctors based on availability instead of waiting for the base to PCS a new PCM in (ours kept deploying).

Maybe you're not having problems...but standards was a GREAT move for my family! HTH!

 

[ChelseaLu]

Lauryn - thanks for the advice! I considered that this morning as I was wading through the referral management process. If he does come back positive, it will probably end up being helpful that I switch him at least to Standard. I do love his PCM on post - he's a family medicine physician who is probably the best doctor I've ever had in the Army, hands down. We would have to get referred off post no matter what for him, since we don't have a Pediatric pulmonologist, GI, endocrine, etc. Luckily, Scott and White Hospital is nearby which has McLane Children's Hospital, which is CF certified and has a specialty pediatric team specifically for CF. And you're right - if he is positive, then the next step is definitely going to be genetic testing for both my husband and I, as we are also expecting our second child (I'm due in April). If he is negative on the sweat test, the next step is going to be a referral to Peds GI and go from there. His doctor and I have already discussed that, and he is definitely on board with moving ahead and engaging specialties to assist with a diagnosis.

I'm going to continue to try and be positive and cross my fingers, but like I said in an earlier post, in my heart I feel like the diagnosis is already there and this testing is more like a formality. I have never wanted to be more wrong in my entire life, but I want an answer so we can start tackling this head on and win

 

[imported_Momto2]

ChelseaLu, no matter what the diagnosis, your son is already ahead of the game with a knowledegable mom who is going to bat for him. Good for you! I hope you get this resolved quickly so your son can get to specialists. Kids who get really pro-active care tend to do very well. Blessings.

 

[ChelseaLu]

Thanks imported_Momto2. I am so glad I found this forum. I have been on different forums before (when I was pregnant with my son) and people could get really catty and opinionated and unsupportive. The fact that everyone on this forum has been so wonderful, and encouraging, and positive is great. I really hope we figure out what is going on so that we can get him back on track. Originally, CF never entered my mind, I was so focused on malabsorption. And it didn't bother me that he is a little smaller than other kids - neither my husband or I are very tall people so I was never banking on a career in the NBA I was more concerned that if he wasn't getting the nutrients he needed via absorption to GROW, then he wasn't getting them for brain development either. That's where all this started. And the more research I do, the more CF is right out there in front waving at me. Clinically, the picture fits. And trust me, he will be getting VERY pro-active care. The squeaky wheel gets the grease, right?

 

[Makmomma2]

Its great to hear your doctor ordered the sweat test. Just continue to focus on his symptoms and not test results. My daughter will be two in January and has had issues her entire life: recurrent respiratory infections, chronic cough, chronic constipation, PFO, failure to thrive (weighs 19lbs- puts her at less than 5%), digital clubbing and positive MRSA culture in nares. She is known to have 1 copy of DelF508 and is considered a cf carrier since she has had 3 negative sweat tests.
It can be so frustrating as a parent when you know in your heart that something just isn't right and your not sure how to make your child better.
if you feel like you are not getting the support and care from your current doctor, find a new one. (We went to 3 different PCPs) and we see GI specialist, endocrinologist, and a pulmonologist. Still no diagnosis yet but I will research every day if need be and I will call her doctor every month if I have to. It's what parents do.
Stay strong and focus on the good things, we don't treat our daughter like she is sick and she enjoys life very much despite the constant issues.
You will find such great support and suggestions on this site. Good luck and I am hoping for the best for you!

 

[ChelseaLu]

Sorry for the delay in my update. With the holidays we have been very busy visiting family out of town. We had his sweat testing performed the day before we left for vacation and were able to get the results the same day. They came back negative! This was obviously elating news for us to have one more potential diagnosis eliminated, but it still leaves us with questions about what could possibly be going on. He has his 18 month appointment in January, and we will look at some labs again (Iron study) to see if his iron absorption has improved, as well as a CBC to see if he still has microcytic anemia. He has become VERY picky with eating (only with me and my husband, of course), which has been a frustration. He eats like a champ at daycare, and while we were on vacation he would eat as long as it was anyone else but us feeding him. I tried giving him lunch and he refused any attempt, but as soon as my sister tried to give him the same food he was all too happy to oblige. Ugh! Kids The struggle to get him to eat a decent meal while we were on vacation became so stressful that at one point I had to get up from the table and walk away, let someone else feed him, and just go cry in a bedroom. I know that no kid is going to voluntarily starve themselves, but when you know that they already have a poor absorption rate and trouble gaining weight, and then are choosing not to eat, it's maddening.

As far as the continued search is concerned, I think the next step with his PCM will be either a referral to Peds GI or Endocrinology. As much as I want to find a diagnosis so that we can ensure he is getting the nutrients he needs to be healthy and grow, I'm hesitant to go through with more workups because I know that they will be potentially invasive, and it's hard to reconcile that. If it was me, that's one thing. I'm an adult and I can knowingly consent to testing and procedures, but when I am consenting on behalf of my toddler, I feel terrible that I can't really explain to him what is happening and why, and that it is because we want him to be happy/healthy. How do you deal with that? Knowing that the testing, while invasive and potentially uncomfortable for the kiddo, may give you the answer you need to make them better?

Thanks again everyone for all the support and information. This forum really was a great source of positive reassurance of how I was feeling, what we were/are going through, and knowing that regardless of the diagnosis there was a light at the end of the tunnel!

 

[Aboveallislove]

Dear Mom,
Thanks for sharing and best of luck trying to figure out what is going on. That has to be so hard.
Re the eating. I STRONGLY recommend you get and read Ellyn Satter's Child of Mine because I have an inclining the eating refusal is due to your little one feeling pressure to eat from you and dad, which is understandable because you feel pressured for him to eat. I had the same issue and after reading the book and changing my approach our son started eating. He went from 8-12ish weight (blur now) to now he's in 90% BMI (which of course they aren't happy with ever, but, honestly, he eats when he's hungry and not when he's not and I learned long ago if I offer regular, balanced meals, he'll do the rest and I trust him to self regulate). Good luck!

 

[ChelseaLu]

Aboveallislove - Thanks for the advice on the book! I'll definitely look into that. We try not to make meal time stressful. We give him his dinner, we sit at the table with him and eat our own dinner (he eats what we are eating generally). When he eats well, we make sure to acknowledge it with either cheering or applause or smiles. If he starts throwing his food or dumping his plate, then we take the plate away. After a couple minutes we will ask him if he is all done or if he wants more (he signs to us what he wants). He he says he is all done, then we clean him up and let him leave the table. If he says more, we will try again. If he starts the same behavior (throwing/dumping), we clean him up and let him leave the table. We will give him about 15 minutes away from the table to play or whatever, and we will ask him if he is ready to try again. If he is, then we will try, and repeat the process. I will admit, sometimes I'm sure my frustration and desperation for him to eat a good dinner shows through. I also wonder if part of it has to do with the fact that at daycare they eat as a group and he sees all the other kids eating, and it is kind of a peer pressure environment where he eats because everyone else it. At first we thought it was because he didn't like the high chair since they sit at a low table at daycare, so we got a little booster seat for him to eat at the table with my husband and I, rather than at the table with us in the high chair. I will definitely go on Amazon and look for that book though! More information definitely can't hurt

 

[Anto704]

Hi Chelsea LU, I am not a mother but i have CF, and although i can't write any perspectives from a motherly way. I can tell you them from my mum's and mine. I would really go for the sweat test and from what you said it does sound very likely that your baby has it. But i want to try and give you some reassurance in some things so that hopefully you can sleep a bit easier

Now i was diagnosed at 6 weeks from the sweat test. The reason i was diagnosed so early was because when i was born, i was being sick bile (which means this was something wrong with my bowels) and not long after i stopped breathing. They soon found out that my bowels had this kind of black mucus tar like stuff there which they removed that part of the bowel and i was fine afterward. But that was a sign for CF too apparently, although i dont think it's common and just to let you know...Your baby wont have that! Anyway they did a sweat test. A few weeks later my mum found out from the doctors that i had CF and said i would be lucky to live to 20 (Im 23 now and still fit and healthy) She was in shock and broke in tears in those days they didn't have the kind of medication they have now. But despite that she managed and she did all my medication and things untill i got old enough to do it myself.

I use to go in hospital alot for antibiotics every 3 months for 2 weeks and have a clinic check up every 3 weeks and its sounds really stressful but i was happy and still am some of my best memories was in hospital because the nurses was so nice and like a second family to me and i made so many friends with the kids there and got up to mischief! The nurses and doctors also said to me when i was older that i can have my antibiotics at home if i didn't want to stay in but my mum had to learn how to do it from the nurses and have training and i only had the antibiotics for a few mins of my life and then carried on as any other child would and go play outside with other kids and go to school

I have to say though there is alot of medication that comes usually, but it become's a daily routine and sometimes you will get upset or your child but then you try and do it all together at once and then they have the rest of the day to be themselves and you just say "once its done it done and there healthier for it" Now im 23 years old i go to clinc to have a checkup every 2 months, which is alot less than when i was a child as my health has improved over the years and i have gone 18 months without antibiotics.

I go to clinics and see the other people with CF waiting in the waiting room who are 20's to 50's in good health even 70's! and every week i go out with my friends bowling, cinema, meals, swimming as anyone else would and every evening i sit down with my mum for a hour or 2 and watch a film or series laughing and joking.

I will never be able to put in words how thankful i am to my mum, but i just hope this helps you a bit and not every CF is the same you might find they dont need alot of treatment or medication it comes in different ways but just to let you know it may sound scary at first but it becomes a part of your routine and you just live life the best you can. Treatment has came a long long way 20 years ago you had a short life but now with this treatment you can live very well for very long. I hope i haven't scaried you and i hope this helps you. My mum and me are here if you want to know more and so is everyone else on here

 

[JustaCFmom]

I don't really have weight issues with my son, but I give him a piece of halva every day. It is relatively healthy & high in calories & very yummy.

I hope you get the right diagnosis. Not to scare you, but the sweat test isn't everything. My young daughter tested positive & she isn't even a carrier! And there is a small group of CFers who never tested positive, but their genetics shows that they have the condition.

Good luck!

 

[Gibson75]

Makmomma2
My story is similar to yours. My son (nearly 3) has had numerous negative sweats. According to his GI doc he has CF as he is PI and after numerous tests has ruled out everything else. He has also had a daily cough since a baby and numerous URI. He has cultured Heam Inf, and staph a number of times which he is having trouble getting rid of. He carries one copy of DF508 and 1716G>A, which they say is "non disease causing". This mutation however is linked to CF symptoms and has been previously known as a CF muation in other countries. (Mexico). He is seen by a CF team every three months which is all I ever wanted, although he has not got a diagnosis. As with yourself, we as mothers know when something is not right and I see the resemblence between his symptoms and that of his cousin's who has CF. Other little tell tale signs such as excessive h2o wrinkling are also present. All we can do is just ensure our little people are getting treated for their symptoms and remember - knowledge is power!