Here is a link to an article that I ran across, read, then wrote to the person who wrote it. His article is first, then the letter I wrote him, then his response.
<br />My sons are now 18 and 13, still have not one single sypmtom of CF. One is going into the military. There is a good chance they might have ABVD, but haven't had them tested yet. Hope some of this helps!
<br /> <a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&
">http://pediatrics.aappublicati...t&gca=118%2F3%2F1260&
</a><br />
<br />You are going to find this extremely interesting....in October, I also ran across this article. Since I have 2 sons with these genes, I decided to write to Dr. Sullivan. I am going to try to paste here what all was said between us:
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<br />Dr. O'Sullivan,
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<br />Hello, my name is Jada Ose. I have come across your article "Early Pulmonary Manifestation of Cystic Fibrosis in Children With the DeltaF508/R117H-7T/9T" on the Internet. Let me give you a little background information first.
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<br />I am a 41 year old mother to eight biological children. I had 6 children from a previous marriage when my husband and I met. We married and had 2 children together. Our youngest, Zoe, is 3 1/2 presently. At her 2 week appt., she had not gained back her birth weight. Dr. chalked it up to me having my 8th child and not taking the adequate time to breastfeed her the "hind" milk. Gave me another week to try making sure she "emptied" the breast. Next weight check...still no weight gain. He had me supplement her with "easily-digested" formula. Next appt....she had gained a few ounces. We kept her on supplemental formula for a few more weeks, which at that time, she had gained a few more ounces. We then took her off supplemental formula to be solely breastfed. She cried a lot, didn't sleep well, gagged on her milk constantly, throwing it up. She had loose, very frequent, smelly, oily bowels. I took her to the pediatricians office 23 times by the time she was 10 months old. He finally admitted her to the Savannah, Ga. hospital because her protein levels were at an alert level. To no avail, they decided she just wasn't eating enough. At this time, she was 11 months old, could not tolerate ANY food of any type. The most pureed baby food made her choke and gag. She was having 10-14 stools a day. She just breastfed. After 2 more weeks had passed and she started to lose weight, her doctor decided it was out of his hands, she needed to see a specialist. He referred her to a gastro doctor at Nemours Children's Clinic in Jacksonville, Fl. Dr. George (gastro) admitted her to Wolfson Children's Hospital in Jacksonville. In 2 days, he had done every test imaginable to try to diagnosis Zoe. She turned 1 year old in the hospital, weighed just 14 lbs., and got the diagnosis of Cystic Fibrosis all on the same day. Her sweat levels were 108 and 115. Her genes are DeltaF508 and 1717-1-GA. She has done very well since diagnosis. She is on Creon5, Pulmozyme, Albuterol, Zyrte c, Zantac, Vitamax, Nasonex, vest therapy twice a day. She has had 2 hospitalizations since diagnosis. One overnight for a small bowel obstruction. The other this past May for sinus/pulmonary exacerbations.
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<br />In March of this year, we decided to have the other 7 children's genes done, so they would know for in the future if they were a carrier or not. Zoe's full sibling, Sydney, who is 6, is a carrier of the DeltaF508.
<br />To my complete shock, I have done the unimaginable by marrying 2 separate men in my lifetime that are both carriers. Two of my boys from my previous marriage have the genes DeltaF508 and R117H-7T/9T.
<br />Caleb is 16, Alex is 11. The only remote symptoms in their life are these:
<br />Caleb: Jaundice for 2 weeks as a baby, has always been tiny, has exercise induced trouble breathing, a very "seal-bark" sounding cough since he was little.
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<br />Alex: Rectal pro lapse around the age of 2 that required surgery.
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<br />They have had all the normal cf testing done...
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<br />Caleb: sweat level of 52 & 53, pft over 100, x-ray showed hyperinflation and some bronchial markings, ct showed no hyperinflation and minimal markings, stool sample showed him to be pancreatic sufficient, vitamin levels all normal.
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<br />Alex: sweat level of 49 & 51, pft right at 100, x-rays normal, stool sample showed him to also be pancreatic sufficient, vitamin levels all normal.
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<br />Their cf doctor, who is Zoe's also, is the head of our cf clinic here in Jacksonville, Dr. Bonnie Hudak. She has chosen at this time, to not put a diagnosis of "cf" on them. Caleb would like to join the Coast Guard and she knows that would interfere greatly. I supported her decision completely.
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<br />I have been doing some research since, coming across your article and others. There is obviously a big debate as to how, who and when we treat these patients. I also am at a loss. I do not want to not be pro-active in their health care, to later have it cause them to have permanent lung damage.
<br />I thought maybe you might have some more insight into this, hence, why I am writing you. I also wanted to volunteer our families information for any studies, if it would help.
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<br />Thank you for taking the time to read all of this and I look forward to hearing from you.
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<br />Kindest Regards,
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<br />Jada M. Ose
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<br />Jada:
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<br />Thank you for sharing you amazing story with me. Since CF carriers are found in 1 in 25-30 people, the likelihood of you marrying two men who are carriers is 1/25 x 1/25 = 1 in 625 to 1 in 900. Have you considered buying a lottery ticket????
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<br />First, let me say, seriously, that I feel for you...having a child who is sick and not growing well and for whom it takes months for the right diagnosis to be made is extremely trying and difficult. I hope all is better now. Certainly, you have a great CF doctor in Bonnie Hudak.
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<br />Next, let me say there is risk in checking for genetic predispositions to disease. We all have some predisposition to some disease. It may be good to know about this in some cases (a woman with a predisposition to breast cancer can make sure she gets frequent check ups) but ay not be so good in other cases (knowledge may cause a great deal of angst about something that may never happen, for example in those with a small but real increase risk for some other disease). Our geneticists strongly recommend we NOT get CF genetic testing on asymptomatic siblings with the thought that it is not clinically indicated in a well child and that the child should have the right to chose for him or herself as an adult making reproductive choices of his own whether or not to find out he is a carrier. Of course, in this case you got more information than you wanted. Always a dangerous situation. But, we cannot undo the fact that you have the knowledge. The genie cannot be put back in the bottle.
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<br />So, what to do? I agree with Dr. Hudak, calling them "CF" patients at this time might not be valid. However, the borderline elevated sweat test and known genetics means that they should be followed at some frequency in a CF Center (annually?? no one knows) to make sure they are okay. Although the actual number of people with dF508/R117H-7T in the real world is not known, it is likely that many (most?) of the people with this combination have little or no CF-related disease. There seems to be an increased risk of infertility in males with this genotype. Some may develop mild lung disease. Virtually all are pancreatic sufficient. We have 3 infants with true lung disease, but I know of many others who are adults and are well.
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<br />I would suggest that you discuss this difficult and delicate matter with Dr. Hudak and follow her lead. She is doing what we would do. I would also suggest that the boys be entered into the CF registry when and if there is a parallel registry of people with CFTR-associated illnesses that are not true CF.
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<br />I hope this helps.
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<br />Brian
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<br />Brian P. O'Sullivan, MD
<br />Professor of Pediatrics
<br />Chair, Institutional Review Board
<br />UMass Memorial Healthcare
<br />55 Lake Ave.
<br />Worcester, MA 01655
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<br />Tele: 508-856-4155
<br />Fax: 508-856-2069
<br />e-mail: osullivb@ummhc.org
