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mehlingfamily
02-26-2013, 11:20 PM
Our daughter has 2585delT as her second CF mutation. And we have not been able to find any information on her mutation except what her doctor has given us. Does anyone else have 2585delT as one of their CF Mutations.

MOM247
02-27-2013, 02:25 AM
Hi there,

My son also has this mutation. There's another Mom on this site that's child also has this same mutation. What I saw there's only been 11 people w/2585delT since they started collecting mutation specific data.

My son is 5 in a half, and doing excellent. He was born with meconium ileus & had one hospital stay from complications from scar tissue. My son is pancreatic insufficient and takes enzymes w/food. No lung issues at this point. We pray & purel everyday!

sarah
mommy to Johnny 5 1/2 w/cf & bailey 3 no cf

JENNYC
03-04-2013, 02:28 PM
HI!!! :) I'm the other mom!! Abby is 7 and her mutations are DF508 & 2585delT. 2585delT is a class 1 mutation with a frame shift and a stop codon because of the frame shift. She too is pancreatic insufficient and has had lots of sinus problems and some lung problems. Even though we have the same mutations I think environment has a lot to do with how each child handles CF. We live in Texas and the weather here can be pretty unfriendly with allergies and sinus'. I would absolutely love to talk more to you if you think of anything. I will tell you that Abby has been on off label Kalydeco (which is an incredible new drug) and it is helping her tremendously!! I sing it's praises everyday for what it has done for my baby!! I also have this crazy wonder if somehow yall are both related to my husband as there are only 12 known people with this mutation. Very interesting!! I would love to hear more about your little one.

This is what my friend sent me when I was first learning about Abby's mutation....hope it helps you understand like it did me:

The first line below is a section of nucleotides from a normal CFTR.... the second is Abby's mutation. In Abby's mutation, the second 'T' is deleted, so it creates a frameshift. Every three nucleotides is code for an amino acid, so that is why I broke each section up in three letters, or nucleotides. 'TAA' is a stop codon that is created because of the frameshift. Ignoring the stop codon and continuing the frameshift still does not make any sense to our bodies.

TTG GAA ATA AGT GAA GAA ATT AAC GAA GAA GAC TTA AAG GAG TGC

TGG AAA TAA GTG AAG AAA TTA ACG AAG AAG ACT TAA AGG AGT GC........

I am so excited about all of the research that is going on right now!!! And I have wonderful friends that help me stay up to date and also explain things where I can understand it. These are exciting times!! Sorry to ramble...I would love to hear about your daughter. :)

MOM247
03-04-2013, 02:43 PM
Jenny,

I also wonder the same thing, about the thought that we may some how be related:) We have a lost family member out there that was adopted in the late 60's as a baby boy. Sometimes I wonder if he was a carrier of the same gene, and had a child w/cf. How amazing it be if I were to "find" him on a CF Board;)

Have a great day!

Sarah

JENNYC
03-05-2013, 09:29 AM
That would be so amazing!! We are not sure where it comes from on my husbands side...we are sure on my side only because I have a relative that also has CF...so I can track it through the blood lines easy. However we haven't located anyone on his side that has had it :( So no telling if it came from his mom or dad and so on and so forth...but I am highly curious :) I remember you telling me that about the lost relative. Just cause I'm curious...was it around TX at all? I know that there was a lot of adopting in both sides of my husbands family but I though it was mostly family adopting family. Ok this is complicated let me see if I can tell this where it is understandable :) My mother in laws cousin had a baby and my FATHER-in laws brother and wife adopted him. And I know that there was several other instances like this in the family. Anyhow we have asked at every family reunion trying desperately to find someone that had had CF or died at an early age from pnuemonia or some other unknown and nothing. I know in the big picture it really doesn't matter...I'm just the curious type :) Hope your little ones are doing well!!! I still remember the picture of them with the bunny!! They were so cute!!

mehlingfamily
03-07-2013, 09:12 AM
Thank you very much. We knew Adaira's mutation were rare but we did not know how rare. Here other mutation is 621+1G>T. And we are still learning about these mutations also. Adaira has been pretty healthy in our really mild winter. Adaira is also pancreatic insufficient, and we do have to give her Muralax every other day. Her wieght is at the 15%, and her height is at the 75%. We would like to thank you for all the information.

JENNYC
03-07-2013, 10:03 AM
Mehlingfamily your daughters other mutation should work with Kalydeco!!! It really worries me about her weight....how old is she? I truly believe that Kalydeco would help your daughter. I was so excited when I saw your other mutation!! You should talk to your dr's about it if she is old enough. Keep me posted!!

mehlingfamily
03-07-2013, 03:55 PM
Jenny I am sorry Adaira does not qualify for Kalydeco as what we have been told by our medical team. But we will be asking at next clinic. Adaira is 2 1/2 years old and she has been pretty tiny most of her life except while I was nursing. It is a struggle to get food down her. And there has been talk of a feeding tube. They are watching her weight closely. But they really have no concerns since she has not been sick in almost 6 months, and she is extrememly extremely active and will not stop. She is really loved by all of her medical staff from our CF Team to our Pedictric Team. They run everything by our CF Team first.

Jenny I have 3 older daughters without CF and they have been pretty tiny until recenty. I have Louri almost 16yrs, Rachial almost 14yrs, Makayla almost 12yrs. And they are pretty much pretty healthy except for Rachial that has environmental allergies. When she was younger she had many inner ear infections. Other than that they all are pretty healthy.

Aboveallislove
03-07-2013, 04:49 PM
just my 3 cents on Kalydeco: I doubt any doctor would do double-off label, i.e., under 6 and a rarer mutation, so I'd hold my powder for bear, i.e., wait a year for when approved for either younger ages or your mutation so that you have a better chance of getting approved by both doctor and insurance company.

and re weight . . . if she's been on a consistent growth curve and your family runs tall and lean like your other girls, obviously you want to keep an eye on it, but I wouldn't worry too much b/c CF doesn't change the natural body type and worrying too much and pushing food can backfire. I did that when DS was little and am constantly warning others of that!!

and finally. . . sounds like you all have a family tree somewhere connecting! How fun.

JENNYC
03-07-2013, 05:22 PM
Yeah she is a double off label being that little...but at least you know that there is Hope for later on!! :) That is terrific about your family! I didn't realize that all of your kiddos were small, I was just thinking if Abby had that low of weight percentile my CF team would of probably stroked out LOL!! Hopefully we can all keep in touch!! I love to chat :)

Aboveallislove
03-07-2013, 05:26 PM
Absolutely re the hope...and as I think about it the 2-6 study is for gating so it might not be off label at all in one year if the other is a gating one!!

MOM247
03-11-2013, 06:18 PM
Hi Guys!


Great info Jenny! Thanks again for giving us hope for Kalydeco. Our sons cf docs really shot me down at clinic when I brought it up. It's comforting to know that it's working for your little girl.


Not having a family history of CF made it soooo shocking!! Our son is the 1st on both sides of the family. I'm trying to track down our families lineage, and I ran into a road block on my mothers side (she was adopted). We can't find her father. Has anyone else had this issue?




Sarah


Mommy to Johnny 5 w/cf & Bailey 3 no cf

JENNYC
03-13-2013, 10:04 AM
Well Sarah...we got some bad news yesterday...Abby's last clinic cultures showed that she is now growing MRSA and H-flu again :( We have had so many clean cultures that it is just a small punch in the gut to have that nasty monster back. I know that she will be fine and many have it for years as she did before.. with no complications....the mommy in me just really wants it GONE! She does have a little cough due to some sinus mess...but everyone has it right now because of the latest cold front that I would have sworn Dorothy went flying by on (that cold front packed some really large winds that lasted for 2 days, the kind that you tie the trampoline down so it doesn't take flight LOL) so it stirred up all kinds of mess. Still could be allergies but now that I know what she is culturing that is in the back of my mind as well.

Still haven't heard from Michael's cousin yet on the family tree stuff but as soon as I do I will let you know. I think it would be simply amazing if the 3 of our families found connections!! I'm excited about the possibility of great friends and new family!! And no adoptions on our side that I've found but I'm not sure about the Mehling family...I think they are just beginning to look...hopefully they will keep us posted on what they find!! So exciting!! If nothing else I have made some really great new friends :)

MOM247
03-14-2013, 09:48 PM
Jenny,

Sorry to hear about Abby's cultures:( I hope she kicks them fast! I'm still dreading the day my son cultures something.

Good luck with your family tree research. I'm going to keep looking too. My mother-in-law is now back in Montana visiting family for the next couple weeks. They are also going to Butte MT, for the big Green Day Celebration;) Have to wait till they get back to talk to her.

Have a fun & safe St.Pattys!

Sarah

mehlingfamily
03-21-2013, 03:04 PM
I have sad news Adaira had colonized Pseudomonas Fluorescens once again. The last time we got that result was for Christmas. So Adaira will be on Cipro, and Tobi for a month every other month. I just got a call from clinic a little while ago today. Looks like Adaira is hitting another milestone in her CF Care.

JENNYC
03-21-2013, 04:08 PM
Lanor...so sorry to hear this!! So she had it in Dec? How long did they treat her before it got rid of it? I'm actually not totally familiar with Psuedo Fluorescens...Abby had the Psuedo Aeruginosa. Wonder what the difference is? She was treated with cipro and Tobi.....but they also had a research study going on that we became a part of and she was on and off every month for a year and knock on wood hasn't cultured it since that very first time when she was 2. I can't help but wonder if it's because at that age they stick EVERYTHING that's not tied down in their mouth LOL!! Many prayers heading your way :( Hope she knocks it soon!! Hurry up Kalydeco and get approved!!!

MOM247
03-21-2013, 05:36 PM
Soooo sorry to hear about your little girls culture;( We haven't had to use Tobi yet, and don't have any knowledge on other therapies out there. I hope she kicks it quickly!! Do your docs have her taking any probiotics while on Cipro? My son has a terrible tummy troubles on antibiotics. Prevacid & Bio Gaia Probiatics have helped tremendously.

Take Care!!!

sarah

mommy to Johnny 5 w/cf & Bailey 3 no/cf

MOM247
04-03-2013, 04:59 PM
Hi Guys,


I hope all of you had a great Easter. We had a beautiful Easter, I got the honor of hosting both sides of the family again this year. My in laws brought baby chicks:) What a mess!!! LOL The kids enjoyed them though:) The chicks left today to a farm.


We had CF clinic yesterday & Johnny looked great! Now crossing fingers for a clear culture. Hope to continue on his new eating trend. The child is in love with peanut butter waffles & syrup;) Vow to make him their 1st obese patient:)


Jenny, I talked to my mother in law & found that the newborn baby boy was put up for adoption in 1969 in Livingston Montana. Don't know much details other than that. The 2585delt comes from that side because I carry a different mutation. My mutation was caught when I was pregnant with my son. My husbands wasn't and that's why we were so shocked that our son had CF.
Doctors talked a little about 2585delt today and the risk of hearing loss with IV antibiotics. Scary stuff!

JENNYC
04-05-2013, 09:59 AM
Hi Sarah!!! Sounds like you had a fantastic easter!!! And chicks....what a wonderfully fun idea!!! But yes very messy and noisy LOL!!! Love the waffles and Peanut butter!! Abby won't touch Peanut Butter :( Oh how I wish she would! The kid will eat reese's pb cup but hates pb??!! And Clayton is allergic but wants it!! Hahaha!! Figures right!! :)

Wow so you have a long lost relative out there that probably has no idea that they are caring that hard to find gene!!! And a long lost brother-in-law!!! And possibly whole other family!!! Oh how exciting and sad that you are missing out on each others lives!! Your family sounds very family oriented like ours!! We love family!! When we got together up at the lake for spring break there was 53 of us out there having a blast!! That's just my moms side. My dad was an only child :( And my husbands family is spread out all over the place. I still haven't heard from the family member about the family with the 11 kids yet and I've been so busy with the bake sale and easter that I have not had time to make the drive to the courthouse to investigate for myself yet...but am very anxious to do so. Oh to find the time!! LOL!!!


Yes when we first learned of Abby's mutation I of course started looking it up and I found links about that gene causing eye damage and hearing problems :( And Abby already has enough eye problems!! It is scary!!

I'm so glad the 3 of us get to chat!!! I have enjoyed getting to know both of you!!!

Lanor how is Adaira doing? Hopefully better!!

MOM247
06-13-2013, 11:49 PM
Well, my lil man grew Pseudomonas for the first time. I got the massage yesterday. Very tough day:( Johnny also graduated from Pre-School yesterday. Spent the last month working on his IEP. Thats all finally settled. Many emotions running through us. I spent today fighting with our insurance company & the cf team setting up a Tobi delivery. We started Cipro last night, and Johnny just cried his eyes out. I assume it's disgusting. I think we have been spoiled sticking to the same routine for the last couple years. It's going to take some serious getting use to, doing 4 nebs a day.

We will have another culture in a month, and if it shows up again I fear we will be admitted:( So, I'm going to pray & fight like crazy to kick this.

Sarah