Hi all,I am putting together some data for CF diagnosis and how it was first diagnosed. If you have a Child with CF , could you post a response here or email me at don.patin.cc1w@statefarm.com? Thank you very much!!!Also can you comment on the "prune hands/fingers/feet " thing I keep posting about? Thank you!Don Patin (dad of Madison "quick prune hands girl" with CF and Lauren 8Yo, Caroline 3YO (and fighting potty training relentlessly)
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How did your child present (shows signs) of CF
- Thread starter anonymous
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Our son was ultimately diagnosed through GI symptoms. He always had large frequent stools - up until the time he was diagnosed he was having around 6-8 large stools a day. But because he was my first I didn't really think to question them. I figured that whatever goes in, must also have to come out. He ate a ton of food every day, so it only made sense that he also would poop a lot, as well. I had so many friends complain about "picky" eaters, I was actually thankful that he was a good eater. I guess our first "big" sign that something was different was when his baby sister (who is 15 months younger than him) started eating baby food and having formed stools. We asked his doctor about that and she told me "not to give him so much juice." I only gave him about 1 cup of diluted juice a day, but I figured that maybe that was still too much. I cut out juice entirely (just milk and water) and then one day, I really noticed that his belly seemed really distended - like one of those poor starving babies you see on the news. Again we brought him in, and again his doctor dismissed us as "worried parents." My husband was a medical resident at the time and her explaination just didn't sit right with him, so we made an appointment with her partner. He was worried that maybe our son had some sort of milk allergy, so we made a list of everything Sean had eaten in the past two weeks. The partner took one look at the list (which would put most adults to shame) and then one look at his stool which we brought in in a zip-lock bag (which was huge, greasy, foul-smelling and fullof undigested food particles) and orderd a sweat test. We didn't know a lot about CF - I actually had never heard of it and my husband only had some outdated information about CF from medical school. We looked it up on the internet that night and thought "no way." Yes, Sean had all the GI symtoms, but he didn't have any of the lung symptoms. However, four days later, his first test came back at 115 and the second test (the next day) came back at 120. Sean is double DF508. Looking back, there were so many signs, but we didn't think to know any different. Sean was small when he was born (6.5) and always remained small. I think because I literally nursed him all day and all night for the first 12 weeks of his life, he was able to maintain a very small growth curve. He always stayed right at the 10th percentile. Because he was "growing" and always maintained their "minimum" of 10%, his doctors didn't seemed concerned at all. Also b/c he was our first, I didn't question the fact that I nursed him all the time. People tell you that you will be up all night long with your new baby. I didn't think it was too odd or "out of the ordinary" that I really was - literally - up all night long nursing that poor child. Finally, at twelve weeks, we went against our doctor's advice and started giving him formula. He did much better with bottles - so we figured that it was just my milk that wasn't filling him up enough. From that point on, he always seemed very happy and healthy. Although we continued to asked about his height and weight, we really didn't start to worry again until (as I mentioned up above) he was around 18 months and his sister was 6 months old. I guess you just want to believe your doctor when she says that your child is "just fine." I think the thing I would like to most change about doctors and CF diagnosis is that doctors must be trained to know that CF affects every patient differently. No two patients are alike and no two patients have the exact same symptoms. Some only have lung involvement, while others complain of GI problems. Some are born very sick, while others appear very healthy for quite some time. CF is not a text book disease. Even patients with the same genetic mutations can have very different symptoms and levels of health. I think too many doctors rule out CF b/c the patient doesn't have one or more of the classic symptoms. I know our son was overlooked for almost two years for that reason. I am sorry for getting up on my soap box, but this happens to be something that I feel very strongly about. I also know that I am not the only mother that happens to feel this way. Don- I am glad that you brought this topic up. I don't know what your exact plans are for the posts and emails you may get, but I hope this one helps you in some way. I wish your daughter (and family) lots of health and happiness. If you find out anything interesting, please let us know. Take care.Katrina, mother of three - Sean (5) w/cf, Carolyn (3/5) w/o cf, and Allison (21 months) w/o cfP.S. You mentioned "prune hand" - Sean's fingers and toes almost instantly wrinkle up in the water. My husband says that is make sense considering that CF is basically because of a defective potassium/salt transfer. He can explain it better than me, but basically people with CF loose their salt quicker in the water and that in turn causes fingers to loose the water in their cells and literally "shrink." Wherever salt goes, water goes with it. That is also the reason why heat stroke and dehydration is a concern with people with CF.
Thank you for the information! It is certainly helpful.I am collecting as much "real life information" as possible and doing research on CF presentations to post on a website. If this information can help diagnose a child one day sooner I will be happy with the outcome.I plan to make this information available to all pediatric nurses and doctors in our area. I will gladly share what I am able to develop.The prune finger thing I find to be extraordinary! I think it could revolutionize CF diagnosis. For example an infant has loose and frequent stools or gets pneumonia at a very young age. How difficult will it be to ask the parents if the child "prunes" quickly while bathing? It is very easy! If the parents call back and indicate the child prunes quickly the doctor can order a genetic or sweat test immediately. This will hopefully eliminate delays on ordering CF testing.Our daughter presented with anemia and failure to thrive. We later learned that the SOY formula was horrible for CF children and likely caused the malnutrition factor to be even worse. At four months of age she got RSV and two weeks later was on the ventilator with psuedomonas pneumonia and was septic with pseudomonas. The worst part was, she was being treated for the anemia by Pediatric Hematologists who completely over looked nutritional deficiencies as a cause for the anemia. Our daughter weighted 9 lbs at birth and never gained any real weight. She weighted 10lbs when she was diagnosed with CF at 4 months.Thanks again!
B
Beaz
Guest
Our experience represents a different side of this issue. Our son was diagnosed at 28 days in response to a positive result on a standard neo-natal screening test for the 30 most common genetic diseases. With 20/20 hindsight we could see that already his weight gain was not robust, his skin was salty and his stools smellier that normal, but without the red flag, who knows how long it could have taken to put the clues together. We feel very lucky that the test was available and considered "standard" so we could start helping him before he lost any more ground. Along with increasing physicians awareness of the many different presentations of CF you might consider advocating for more common and widespread testing. And yes,my son "prunes up" quickly also. Good Luck!
I am against genetic screening of new borns. Having nearly lost our daughter due misdiagnosis of CF this may seem strange.We have two older daughters who are likely carriers of CF. They each have a 66% chance of being a DF508 carrier. Had we screened our first daughter, we would have likely discovered she was a carrier. This would have prompted my wife and I to be screened which would have showed us both to be carriers. We would not have our second or third child (WCF) had we have known we were carriers. I cant imagine life with out either of those two kids. Looking back, I am glad our first, second and even third child was not genetically screened at birth.I think it is fantastic that genetic screening works to identify CF quickly. My only concern is the additional imformation that comes with the identification of carriers. I hear there is a blood test that test the amount of Trypsinogen which may signal CF. This would be great. We could identify only the babies with CF and not identify carriers.Also... You hear a prevailing theme in everyone's CF diagnosis story.. it is..."the signs were there all along" They may be different signs but the red flags are there. Be it weight, GI problems, respiratory or Upper Respiratory problems. Better identification of these signs is not too much to ask of the pediatric medical community.Thanks for the reply! I am very happy your child was diagnosed so early. I am glad you replied about the "pruning".Don P
Hi Don, my daughter had meconium illeus at birth. She had exploratory surgery at one day old and the surgeon told us that he suspected CF. My husband and I didn't even know what CF was. This was our first child and I was a baby at 25! Maya, who is 5 now had an illiostomy for 3 months. She was in the intensive care nursery for 3 weeks and was started on enzymes and ADEK once she started to eat. At 3 months she had surgery to reattach her small intensine inside her body. While she was still in the hospital, 2 days after that surgery, she had another blockage and was taken in for emergency surgery. She had another illiostomy and three months later it was successfully closed and everything has been inside her belly since! Maya's lungs have been pretty healthy overall but she has awful nasal polyps that have been removed four times so far. She has recently had several bouts of sinusitis and tonsillitis and I am very worried. Everytime she gets sick, she is put on antibiotics; she does great for 10-14 days while shes on them. As soon as she is off them though, she gets sick again with a sore throat, stuffy nose, etc. She blows out the most awful, moss green stuff from her nose, but not all the time, and even sometimes when she doesn't appear to have a cold! I'm taking her to the CF doctor this afternoon. I don't know what to do but I hate to have her on antibiotics constantly. Any input would be appreciated. You can reply here or to lucynizinski@hotmail.comThanks!
My story is a little out of the ordinary. I was a small baby, but I came from 2 very small parents and both my siblings were small too. My only symptom as a young child was ear infections, but that was not all that unusual in young children. As I got older I continued to grow fairly normally. I was skinny, but so were my siblings. In fact everyone thought my OLDER brother and I were twins because we were same size, height, and weight. I started coughing a lot in about 4th or 5th grade. It seemed when I was sick I coughed non stop. I went to the doc who refered me to a allergy specialist...nothing. I then went to see and ENT who told me I had an elongated epligotis and that I choked on it at night. He told me I would be "cured" if I slept on a bunch of pillows (it is amazing who can cal themselves a doctor) Needless to say this did not help on bit! I then went to another ENT who found a sinus infection. Clearing the sinus infection helped a lot, but I still had a HUGE appitite. After seeing several other doctors and specialist we moved to California. I went to my new pediatrition who is my angel say that I stopped growing in the middle of my teens. He order a blood test and then a sweat test. At age 14 I was diagnosed with CF. I have to say that I am thankful I did not find out till 14 for personal reasons, but mostly because all in all I was and still am so healthy and had very very little scaring so the late diagnosis did not harm my body like it could to people with a more severe case. I would hate for others to have late diagnosis because it could mean the difference between l;ife and death for many and I do wish more docs would realise CF was VERY different in all cases. About the fingers I always noticed that my fingers wrinkled in water faster. I was glad when someone on this site brought it up. Just like salty skin its another little test that each family can do if they suspect CF. Oh I have two f508. Good luckEmily
I was diagnosed at 7 years of age. As an infant I had a bout of bronchitis, but that is not uncommon in infants. I had stinky poop which also isnt uncommon. As time went on & every time I had a bowl movement, it was gassy, greasy & painful. This made it very difficult to potty train me. My Mother said I would chase everyone out of the house when I brought my potty out into the living room & used it. Kindergarten was horrific for me because of greasy "accidents" that occured after eating. After tons of allergy tests, my allergist referred me to Boston's Baby Hospital for the Sweat Test. Although I was small (as was everyone else in my family who were w/o CF), I was not grossly underweight. My lungs hadnt really been too involved until after my diagnosis. I remember not wanting to wash dishes for my Mom because my fingers pruned up so bad that it gave me a weird sensation. To this day I hate doing dishes & prefer not to sit in a bath, but take a quick shower instead. My daughter has asked me to sit in the bathtub with her & I have tried, but the "weird" sensation I get when my fingers are pruned prevents me from staying more than a couple of minutes. Of course until this topic was addressed at this site, I never connected it to the CF. I do remember it vividly in my childhood. I had a few admissions as a child for "pneumonia", but nothing serious until I hit puberty. Then everything went hay wire. My hemoptysis started & became a common factor as well as chronic infections. Much of this was caused by the lack of treatments. After diagnosis my parents (especially Mom) never pushed me to do treatments. It was difficult for her because of arthritis & Dad was always at work. I was a kid & didnt understand the long term affects (I'm not sure my parents did either) nor did I seem to care. I have 2 copies of Df508.
I was 11 when I was diagnosed, so I really had my doctors confused. I had a constant runny nose and after I turned about 8-9 I didn't really gain weight. My mom really noticed when I was 11 and didn't have any energy and only weighed 60 pounds. So they eventually ran a sweat test, and voila, CF. I'm the only one in my family (I have two siblings and 30 first cousins), so no one ever thought of it.
Hi Don - Jason was dx. at 18mos. He was born at 37 weeks. He was almost 10lbs. He was in the neonatal icu for 5 days because he kept throwing up green. Also he had low blood sugar when born and turned blue as a result. At about 2 weeks, he started honking like a goose. He was dx. with laryngomalasia. At 3 mos. he was dx. with hypotonia. He always sounded snorkly and I could never get anything out with the bulb syrynge. He ate like you would not believe. He pooped 11 times a day all the way to 18mos. At 7 wks, he started with Colic. He had constant ear infections and what the dr.'s called cold virus'. Quite often, he would throw up balls of mucus. He has always been big; he has stayed at the 95% for his age. He had had a cold for weeks with a terrible cough, esp. at night. One moning he woke up and was retracting. The ped. tried breathing trtmts. to no avail. He was admitted to Dupount Hospital. At first, they suspected something infections and confined him. Then they were stumped. The pulmonologist couldn't hear or see anything in his lungs. The infectious disease dr.'s didn't know what to do. Antibiotics, steroids, and various breathing treatments were not working. Nine days into it, they did a bronchoscope and when they saw the inside of his lungs they were amazed..... they sent out for cultures and sent him for a sweat test. Hind sight, lots of things make sense. He def. prunes very easy and has very salty skin. Hope this helps. Thanks for all that you do. I smile when I see your well worded and very informed emails. Best Wishes! Jo Ann
Our daughter was born 3 lbs 14 oz which had nothing to do with the cf, but because of her weight she was monitored twice a week. Each visit the weight gain was less and less until she finally stopped growing. I asked the ped. why she was having so many bowel movements (I didn't specify 15 per day) and he said it was probably because I was breast feeding (thinking I meant 3-5).We went to emergency 3 times because we felt there was something wrong and each time we were sent home with a high fat diet for her. This just seemed to make things worse. She ate every hour and a half and had a bowel movement after just about every feed. She screamed all the time as well and got little sleep, which we now realize was from stomach pains.She was finally admitted to the hospital by our ped. at 6 weeks old, weighing about 5 lbs, because of odd test results. She was admitted as a failure to thrive, and was also anemic at the time. He felt it was a milk allergy (as many dr's do) but had her admitted just to be safe. We went through a battery of tests and after two weeks she had the sweat test and was diagnosed at 8 weeks. At that point there hadn't been any colds and it was strictly digestive.It was a tough road but if I had to give any new parents some advice it would be to go with your gutt. If you think there is something wrong with your child be persistant and say so. p.s. She is now 3 years old and fighting potty training as well. She was completely trained and now has regressed. Good luck with it!
Thanks for the information. Madison is 30 months. She is not potty trained. Her vocabulary is limited and she is behind on most cognitive development goals. I remember that she is currently well and we never thought she would get this far. This keeps us on track. Potty training is sooo tough! Hang in there. It is big but I never saw a High school grad in diapers so it has to happen right?
Hi I am Farrah I also have 3 children and only one out of the three with CF Alex he is 7 he was dx at 5months. I would really like to talk with you about the gi effects Alex just has it in the GI tract and I have not found anyone like him. if you would email me at starchaser77@aol.com
As I read over the replies of how your child/children were diagnosed/presented with CF, I guess I didn't see my story there. Both my kids were diagnosed 3 years when my daughter was 12 and my son was 15. My daughter had had a bout of the flu in which she never really bounced back and after that she became more sick as time went on. Losing weight, and feeling lethargic and sometimes fever and nite sweats, I kept taking her into the doctors who tested her for bowel obstructions, aneroxia and eventually Tuberculouis after she develped a cough and went from 128 lbs to 86 lbs. They admitted her and began to tell me they suspected CF (I never heard of it). They ran tests, sweat tests and broncoscope in which all was positive, they tested my son and found him to be positive as well. My son is 6' 1 and weights 240 lbs. He does not suffer from any lung problems, or digestive problems and his worse problems are all upper respiratory. (sinsus surgeries) He had always had allergies, ear infections and bronchotious as a young kid, but still nothing that he couldnt overcome, perhaps all the antibotics throughout his childhood has kept the disease at bay.My daughter was really never sick at all. I cannot be certain, but in the back of my mind it seems apparent that the symptoms of CF did not surface until after her third vacinnation of the Hepitis B shot, it was shortly after that she became so ill. My son fell into the time frame where he did not require the shot.I am grateful that the diagnose was so late, but its been very difficult to get us to and very difficult for my kids....especially my daughter who is worse than my son to adjust to all the treatments and the change of thoughts and friendships. Let all hope and pray for a cure soon.I guess I always did notice when they were little that their fingers did prune very easily and quickly in water, but never put two and two together. This summer will be interesting as I quietly observe their fingers to their friends and cousins in the pool.
himy son is 6 months.I don't even know when he was dx. It sounds strange...well let try to explain...if my poor english permits...my baby was born w/ a bowel obstruction...had surgery some ours after and the surgeon thought it was cf....the next day the geneticist said it didn't seem to be. for weeks he was feed through the heart iv. Even after they decide to do a sweat test they ignore the result (65). One day, around 30 days after his birth, they called a GI doctor to see him....he changes everything they were doing...and finaly he started gain weight. So they call a cf doctor....and the said it was probable my baby had cf...so after 43 days they discharged him from the nicu...we went home..but noone never came to tell us what it was( i had some idea coz of some research on the internet). and they didn't confirm it, even on his records. After som e weeks we went to the cf clinic...new sweat test (73) and finaly they confirm it. My son is great....he's gained almost 8lb since he came home. He had some colds...but nothing bad. He gets well like any child....with no medicine to it and he's never had any fever. He takes enzimes since the gi doc whent to visit at the nicu. he is really smart, and extremelly handsome. I am so proud of him, but I am scared of how it will be from now on...I am alone in the usa to marry my "virtual boyfriend" 2 years ago. now...I can't go home to brazil coz we don't have treatment there to our son...and I miss my mommy<img src="i/expressions/face-icon-small-smile.gif" border="0"> But everything will be just fine...About the prune topic....my son has never got prune fingers...maybe he is too youngwell...gotta go...midnight feedinggood luck w/ the potty trainingValmather of torin (01/03)