What does 7t, 7t mean? Also, advice on missing school.

[JENNYC]

Kaylinsmom don't forget to tell her doctors of the headaches as it can be due to sinus polyps which if left untreated can be harmful. My daughters only complaint is headaches and it is because her polyps swell when she gets overheated and cause her head to hurt. I'm not saying that is what is causing it just wanted you to be aware that that could be what is causing the headaches and if so should be treated or maintained. Good luck

 

[LittleLab4CF]

Jessiesmom. You have no real rush for an updated genetic test. Which is in essence exactly the point of your post. I was rather surprised to see no difference from the discoveries between my test in 2002 and 2012. When I thought about it, 1% of the CF population which amounts to about 3,000 people in the U.S. are affected by possibly 3000 mutations so it isn't such a leap that odds were against a new discovery.

You might be happy to know National Jewish may soon have in-house genetic analysis if not already now. Maybe by 2014 a ten year test might be good in case. Don't be surprised if nothing new is found but if you can get a full screening it will have value soon enough.

It is a big project but designing 2000 genetic medicines for 2000 CF mutations is not going to happen. Rather the next step for a genetic medicine is a whole gene swap. Right now Kalydeco can eliminate the symptoms of CF for G331D (I am going from memory so I hope its the right one) by swapping out an glycine (G) for aspartic acid (D) so the basic pieces are assembled for a single CF drug. In two years CF could be a thing of the past. I wouldn't bet money on that prediction.
LL

 

[kyeev]

Jessiesmom. You have no real rush for an updated genetic test. Which is in essence exactly the point of your post. I was rather surprised to see no difference from the discoveries between my test in 2002 and 2012. When I thought about it, 1% of the CF population which amounts to about 3,000 people in the U.S. are affected by possibly 3000 mutations so it isn't such a leap that odds were against a new discovery.

You might be happy to know National Jewish may soon have in-house genetic analysis if not already now. Maybe by 2014 a ten year test might be good in case. Don't be surprised if nothing new is found but if you can get a full screening it will have value soon enough.

It is a big project but designing 2000 genetic medicines for 2000 CF mutations is not going to happen. Rather the next step for a genetic medicine is a whole gene swap. Right now Kalydeco can eliminate the symptoms of CF for G331D (I am going from memory so I hope its the right one) by swapping out an glycine (G) for aspartic acid (D) so the basic pieces are assembled for a single CF drug. In two years CF could be a thing of the past. I wouldn't bet money on that prediction.
LL

Jessiesmom, if I were you, I would definitely be trying to actively find out the CF mutations present in your child.

Point 1) Here's a list of mutations, that kalydeco has shown some promise with in the lab. You might expect, with some luck, to see some effects in the patient:

(Minimal but some effect): L927P, E92K, M1V, F508del, H1054D, I336K, R334W, T338I, R1066H.

(Moderate to Good effect): R352Q, R117C, L206W, R347H, S977F, S945L, A455E, F1074L, E56K, P67L, R1070W, D110H, D579G, D110E, R1070Q, L997F, A1067T, E193K, R117H, R74W, K1060T, R668C, D1270N, D1152H, S1235R, F1052V.

Many of these mutations are not that common and may not come to light with a normal CFTR screen. Suppose your daughter has one of these?

Point 2) As Littlelab has pointed out, we are at the dawn of the genetic medicine age (i.e. use specific drug X for mutation Y). So, a doctor (and more importantly, a health insurance company) is going to turn around and say, hmm if we knew what the mutations were, we could put you (or insurance company pay) on drug x,y or z. So then you may find yourself in the position of having to wait and wait for various genetic tests to come back while a perfectly good drug is sitting on the shelf unused...

 

[LittleLab4CF]

Everyone,
So now you have it. Knowing both sides of a foreign coin won’t tell you its value or when and on what to spend it. Here is a usable stock tip for anybody involved with the cystic fibrosis personally. Buy Vertex stock, all you can afford. If you are limited on cash and have insurance, get a prescription for Kalydeco if it can possibly help at all.

Ivafactor has hung its enormous hat on the small hook of CF. To a great extent we are entangled from here on. The FIRST and ONLY truly genetic drug has descended over the CF community and detonated the largest discovery in medical genetics ever. “Forbes” magazine coined Kalydeco “The Drug of 2012”. Talk about an understatement! It is sort of like discussing the history of war and mentioning the atomic bomb in a footnote. Anybody reading this who knows what Protosil is without looking it up gets a free prescription for it. Nobody has this word on the tip of their tongues but we should. It was the first antibiotic, derived from a red fabric dye. Gerhardt Domagk discovered it in a grief driven search for a cure from post partum sepsis that killed one in three new mothers at the time, including Domagk’s young wife. Prontosil won’t be remembered nor will Ivafactor, Kalydeco or VX-770 if history is constant. These are all names for the same sweet promise this rose brings with it.

Vertex and The Cystic Fibrosis Foundation have joined to bring the beauty to market. We may not care about the future of some big pharmaceutical company but every big pharmaceutical company has noticed Vertex Pharmaceuticals and Kalydeco. They don’t have a huge offering of drugs at the moment and would dearly like CFers to pitch in and buy a little of the company so to speak. I am ready to turn over my life savings right now in fact. Well, maybe not all, but it is a spirit to embrace. Vertex is so vested in this drug that it could make or break the company I am guessing. The educated part of this guess is not an original thought since opening at nearly $300K/yr. for the drug. Insurance companies know when to back a horse so they are stepping up to the trough hoping to kill a fat pig in the bargain. The question that has erupted from the innocent question over a genetic Cracker Jack prize found in an overburdened report on genetic minutia into the meat of CF Genetics. Screw all the terms and names, mutation, alleles and exons and let’s decide if we are ready to support Vertex and the CFF.

Albeit so crammed with arcane terms, from Kalynsmoms, topic post (thread) has passed on and pissed on to the crucible’s ashes. What is really behind all CF genetic questions? Is there anything useful in medical genetics to make my child, or make me better or without CF symptoms? The best agreement between Kyeev and me is a glimmer of how fantastic this new drug is. It is like an early fax machine made more from repurposed science and discoveries combined into a super invention that will reshape the world as nothing in history. Nothing! We can dominate those resources to our own ends of a panacea medicine for all CF. I don’t represent any interests here beside my own wish for an end to CF.

Take the biggest event in your lifetime and multiply it by any number you want and it won’t be large enough to capture what is coming next in medical genetics. Vertex designed Kalydeco for CFTR gene mutation G551D. Although it only fully treats this mutation, Vertex has designated Kalydeco as a CFTR potentiator.
Another ass-backwards word is saying it can make CF symptoms better for a number of mutations. It doesn’t go as far as repackaging a heart medication for curing baldness but Kalydeco should be helpful as described by mutation set and results presented so concisely by Kyeev. I am in the mutation lists for moderate help from it. I see no reason not to. Warts with teeth aren’t likely to start erupting on my face by taking it. For everyone that could benefit from Kalydeco, it still comes down to a personal decision. Supporting the research behind a pharmaceutical company that has given its all to CF may not have been on the check list but I can see now why so much consternation is being had over an otherwise worthless genetic test.

The full circle comes back to Kalysmom and all of the moms, dads and adult CF patients trying to paddle up river on the significance of genetics now and down the road. Kyeev had one cogent reader that could understand exactly what he was saying. Most likely that was Kyeev himself but I would like think I understood every word he said. If anybody wants to discuss PCR or gene probes send me a pm, otherwise contribute on genetics remembering most people don’t need to know the exact locus of their mutations. It isn’t really all that interesting for most people. We know what people need understand. If I fail to put something in understandable terms, right or wrong I am not helping. And I am as technically right as the next geneticist.
The language and terminology alone for genetics has different meanings from one camp of geneticists to another. To begin to read something written by a geneticist for somebody schooled well enough to understand the meaning of just all the specialized vocabulary is somewhat uncommon. High school biology and indeed genetics stares into glassy eyed students lost somewhere between a genetic mosaic and gene amplification. For most people genetics was a short term memory, short term class. These busy people could use all this cool information written in words and terms not requiring Umberto Ecco’s Library to reference.
Buy Drugs,
LL