Today we tkae our little one to the Director of Peds Genetics at the local Medical University for an eval, tests etc. VERY important appt...They are very interested in her case as she has had mixed sweat results and showed a mutation in a 25 study, waiting for results on the 85 mutation study. Since she is adopted, we are trying to piece together the history from memory and notes form the social worker. She also has GERD, sinus involvement, ADD, PTSD, immunogoublin E (asthma/passive lung involvement), acid (low or high???) in stools, mild cerebral palsy (fall), speech, strabisnus/eye, judgement and they now are saying high functioning autism (Aspergers). A lot of our plate, so we hope the Genetics Dept will help pin point everything....will keep you all posted so you can learn form our experiences w/ genetics. God bless to all! Rejoice in the true meaning and vast importance of Easter!!
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Genetics Doctor
- Thread starter anonymous
- Start date
I hope all goes well. When do your results on the 85 study come back? The nurse at our CF center told me that they test automaticly for 88 mutations when someone has either a positive or mixed sweat test. I guess all the CF centers may do this differently. She also said that even when they test possible carriers they test for 33 mutations. (looking into this for my sis-in-law) Anyway I hope you get an answer soon.Andrea
Hi, well we thought we'd get the 85 mutation back, but no...will take probably another 2 wks.?? It was an interesting 2 hr appt. The doc, assist and student went thru tons of med records. They don't know if she has CF or not? They did say it for sure appears that she has multiple issues going on ie CP, delays, ADD, complusive, maybe slight autism on one side then the CF syptoms on the other side. She has all the things her twin bro has none other then ADHD and always much bigger, bigger head (98%), higher IQ, etc..Here's the intersting part. They read that their placentas were fused, their cords short!! Thus he got most everything, she got possible blood clots, less O2/blood... She was born small, short and w/ anemia...so combined with her prenatal drugs exposure from bio mom to crack, pot, valium, cocine, uppers, alcohol PLUS the fall on her head at 22 mos under bio care....Doc said most likely it appears she began live on a disadvantage in the womb...WOW!!! Well, that's the update....
HI There, I was quite interested in your message as I have an adopted son with CF. I have never been given the mutations or any such numbers or degrees of CF and I feel a bit dumb. You do indeed haev your handsful, but if you can let me know if we need to also get all our sons records and also to write down the mutations etc? Does it make a difference on treatments and health care ?
Hi Murgie,Many people don't know what mutations their kids have. i only found out because my sister in law needs to be tested to find out if she is a carrier. Some docs really focus on what mutations people have and some don't. My daughter's docs focus on her individual case rather than what other people with her mutations have done. (of course it is taken into consideration) Each child is different and though some people with the same mutations have similar experiences others have different ones. Certain mutations may tend toward more pancreatic involvement or more pulmonary involvement. It is probably a good idea to find out what mutations your son has but it probably won't make much of a difference in terms of treatment. I would also be a good idea to get his medical records, just in case you are asked a question that you don't know the answer to. Just my 2 cents.Andrea
The docs aren't really focusing on looking for certain mutations, they are just looking for another one to confirm or rule out CF. I don't know if her mutation reflects one way or another in terms of involvement as she has the sinus /asthma thing going plus GERD. I think they looked at mutations in the first place beause her sweat tests were mixed? RE: You getting adoption records..I'd get what you can, especially info (if provided) on your sons bio other family members. We just found out that her and her twin brother had ONE placenta, both short cords, hers especially thin (1 cm thick)..the 1 placenta is rare and she was the donor meaning he got the blood, more O2, etc..now her Cerebral Palsy could be from pre-natal drugs, the placenta, her fall. The CF is from the bio mom...we don't know anything about the bio father that's why they are also hunting for mutations...we are trying to get an overall big picture of her health now....Take care and hope you can get records on your son.