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Imogene
01-30-2013, 01:49 PM
10 members took our survey and two mutations are represented:
f508del and R1162X

We look forward to the conversation.

Jeanne

KateLarge
02-01-2013, 06:18 PM
Hello! Our daughter, who is two years old in March, has the DF508 and R1162X mutations. It's a real puzzle as I am from Northern Ireland (DF508) and my husband English (R1162X) so the latter gene in particular is quite a puzzle. Have seen some research on this gene which is quite common in Italy, with notes of it also in Latin America and the Zuni tribe of New Mexico. Anyway! Our daughter is so far very well, she is PI but doesn't have to take masses of Creon (she is still very little of course). She didn't have meconium ileus or any problems like that but did fail to thrive before diagnosis. Her lung x ray was a zero for damage, totally clear, and she doesn't cough or wheeze yet. I have read some things about R1162X being associated with mild to moderate lung disease? I can't really get my team to talk much about this as I suppose they fear I might think the CF is atypical in her, and have unrealistic expectations. Actually, I don't, but I do wish teams would engage somewhat in discussing genes with parents. Anyway, eager to hear from others with this gene combo as I think we may be the only one in the UK and its interesting to compare notes. :0)

Heather
04-19-2013, 07:52 PM
Hi KateLarge! My daughter is 19months and she has the DF508 and R1162X mutations. DF508 comes from my side (Irish descent) and R1162x comes from my husband's side (Colombian with Italian ancestry). I've also heard that R1162x is associated with a milder form of lung disease. I hope that proves accurate. My Daughter was diagnosed during pregnancy. So far so good. She is very PI but the enzymes have been effective in terms of weight gain. Currently she's in the 50th percentile. Her belly is often distended and she is regularly backed-up. However, it rarely causes discomfort and is usually alleviated with miralax. Her lungs have sounded great at every appointment. She did culture Psuedo at 12months. After a month of Tobi her culture was clean again. Up until 1year we did Albuteral and CPT twice daily. After her first birthday they added Pulmozyme to the mix. Prior to Pulmozyme she had a mild daily cough. Since Pulmozyme she rarely coughs. We're super dilligent about meds and treatment but sometimes I can't help but think its overkill as her health is so good. At the very least, we're establishing good habits.

It's great to compare notes with another parent of a df508/r1162x child. I hope your little continues to do well. Keep me posted on her condition and feel free to reach out anytime.

Heather

KateLarge
06-01-2013, 12:38 PM
Heather! Thanks so much for the message, this gene combo is not very common so I am dead keen to find other other parents! Freya has her second Annual Review last month, and did so well! She is between the 75th and 91st centiles, and her chest x ray damage score was zero!! We were over the moon. :o She is extremely PI too, her fecal elastase was just 15. Despite this, she doesn't need a huge dose of Creon, she takes about six to eight capsules. We are just so happy with her. Here in the UK, kids take antibiotics every day, she has 5ml of Cefalexin, she takes vitamin E and a multivitamin too, and that's it. She is right at the top end of the spectrum for wellness so doesn't need any nebulised treatment or anything else. She blows her little acapella every day for physio, we don't do percussion masses at our centre so her other treat,ent is just being very active. She runs about all day from when she gets up until when she goes to bed. She is a little whirlwind!
we do realise she may get more ill as she gets older so we really do just count our blessings every day. She is really well but believe me we do realise that may not continue and I really don't hope we don't come across as arrogant! She is just very well and I want to recognise that and celebrate it while it lasts. She is such a great child, we are so lucky to have her and wouldn't change her for a "perfect" baby for anything. I hope you guys are all well, please do feel free to send me messages as I can talk kids and CF all day!
lots of love, Kate and family xx

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