Welcome Ambry Genetics

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Liamsmommy

New member
My son was born on Aug. 31 06 and since then has been in and out of hospital with Bronchiolitis and "bronculaar pneumonia". He's been sick since the day he was born. At 5 days old the "cold" started by 7 weeks he was in hospital with it. He was discharged still with "bronchiolitis" but was told he was on the mend and would be fine. He never did get better he got worse and worse. On Dec. 12 I has to take him back to the hospital where to discharged him and told me that he was asthmatic and sent me home with puffers. 3 days later we were back in the hospital and this time they sent us home with the nebuliser. then on the 21st he was back in the hospital this time they kept him and decided that it was time to do more testing (after of course I put it in there minds). His sweat test came back "normal 39" and his stool came back positive for "some fat" (mind u the child was not eating much at all because he couldn't breath so I would like to know how much fat would have been in his stool if he had been eating normal). They also did a "milk scan" to check for aspiration witch of course was neg. He's in the 50 percentile for weight so they are not concerned. That being said my other 4 children were all in the 95 percentile so I don't know. They are also now He's being tested for Autoimmune disorders. He sweets like a pig and his stool is pale green and is either flaky or very loose and the stink! my goodness. His hands and feet are always like ice and when hes sleeping his O2 sats drope to the high 80's so you have to wake him a bit to get his sats back to the low 90s This poor baby is so sick and I don't know what to do. When they were doing his neb treatments in the hospital all the nurses commented on how good he sound before the treatments and then he would sound wheezy and crackly after the treatments. I don't get it if he was Asthmatic then wouldn't he be clear after his treatment??? Im thinking that my next step is to demand genetic testing or is the 39 sweet test enough to say for certian that he doesnt have it

We are from a small town and the closest Childrens hospital is in Toronto Canda (Sick Kids) I was wondering if they have there own testing or if they use your testing or any other info on them would be great. I know that they are great for Ortho. and Diabeties but I know nothing about there CF clinic

thank you
Shawna
PS sorry this is so long
 
S

StevenKeiles

New member
Shawna,

I believe they have a very good CF clinic at Sickkids. In fact most of the early research on genetics was done at Sickkids. They do use us for some of their testing. I would discuss this with the doctors in Toronto about having genetic testing. A sweat test of 39 is really a borderline normal result so it does not eliminate the possibility of a form of CF.

Good luck, I hope that helps.

Steve
 
L

Liamsmommy

New member
We went to our peds. Doctor yesterday and mentioned that the 39 sweat test was pretty much borber line and she told us NO that there sweat test was normal upto 60?!?! so my question is there diffrent sweat tests with resault would have a noraml range all the way to 60 and that anything over 60 would be boarderline?

She did however already send in a referal to Sick Kids so maybe she is just trying to pass the buck?

Thank you
Shawna
 
S

StevenKeiles

New member
Shawna,

A sweat of 39 is normal, 40-60 is considered borderline, and above 60 is positive. Many clinics will consider the high 30's as borderline, because some atypical CF patient may fall in that area. It would be good to see what the people at Sickkids have to say.

good luck,
Steve
 
J

Jem

New member
<begin quote><i>Originally posted by: <b>StevenKeiles</b></i>

Shawna,



A sweat of 39 is normal, 40-60 is considered borderline, and above 60 is positive. Many clinics will consider the high 30's as borderline, because some atypical CF patient may fall in that area. It would be good to see what the people at Sickkids have to say.



good luck,

Steve</end quote>

Shawna, just wanted to say that my brother and I, both with cf, had sweat numbers of 38 & 39 when we were tested.
 
L

lalasmomallie

New member
Hi Steve. We're one of those families in limbo and awaiting genetic test results. We will be having another sweat test next Thusday but in the meantime I had a question regarding the panels that were ordered for our daughter. I am very thankful that all we had to do was ask our ped for the test however I am concerned that he may not have ordered the full screening. The ped nurse called me at home and said that the hospital couldn't send off the sample to you guys without a more detailed order written. (So she was asking me what it was!) Anyway, I described what I had read on this site and she said she would take care of it. Needless to say this wasn't very reassuring. We've been playing the "Let's-hurry-up-and-wait-game" for over a year now. Also, I have found out that our daughter may be more likely a carrier for CF because of my husbands Jewish ancestry. (My father in law came over from Russia. ) Also we may have CF on my side of the family but I do not have all the information at this time. (It would have been my grandmothers sister and a first cousin as well) Anyway, I was wondering if there was a more common mutation in Ashkenazi Jews with cf. Is there anything else we should be doing at this time or will our orders be sufficient? Thanks so much for your help.
 
S

StevenKeiles

New member
There are a few more mutations that more common in the Ashkenazi population. If you are wondering if the right tests were ordered, you would need to know which lab it went to and what test they ordered. If it was supposed to be sent here, send me a private email with the name and I can tell you if we have received it.

Steve
 
S

StevenKeiles

New member
This is probably what you mean...

Clostridium difficile, or C. difficile (a gram-positive anaerobic bacterium), is now recognized as the major causative agent of colitis (inflammation of the colon) and diarrhea that may occur following antibiotic intake. C. difficile infection represents one of the most common hospital (nosocomial) infections around the world. In the United States alone, it causes approximately three million cases of diarrhea and colitis per year.

Steve
 
A

agm

New member
Hi there,
My son was diagnosed via sweat test at the age of 6 months. His dna has come back positive for df508, and the other mutation is still unknown. His blood sample has been at the Sick Kids hospital to find the other mutation for 11 months now. I have been told it may take up to 3 YEARS! to find out what the other one is. Apparently they are looking at the modifier genes as well. Why 3 YEARS? I am anxious to find out the other mutation. His symptoms were initially severe at diagnosis, with pneumonia, failure to thrive, collapsed partial lung, pseudomonas, staph, albumin was 11, heart rate was 200-230, etc..... After initial aggressive treatment, he is now doing terrific *knock on wood*. So, I'm assuming the other mutation is likely not atypical.(?)

My question is, WHY the three year wait?

Thanks so much!
Angie
 
H

hallett2007

New member
Shawna,
i have a 4 year old the when they did her sweat test it was 50-51. I was told that was high. SO now we are going thought for the hole work up on her. My son who i had in Feb 06. has a lot of medical issuse. they think that he is a carryer for cf and my daughter has cf. i will keep you posted.


Rebecca
 
S

StevenKeiles

New member
Angie,

Sickkids does do CF sequencing, but my understanding is that they are not a clinical lab, they are a research lab. Research samples are processed as they have the time and they probably have samples from the past several years that are ahead of yours. Therefore the wait. It actually doesn't take that long to do the testing. Also a clinical lab will almost always have a much shorter turn around time.

At Ambry, our CF testing only takes 2-4 weeks.

Steve
 
A

agm

New member
Steve,
Thank you for your reply.

Would you know if there is any other way I might be able to have my sons' mutation testing done? The Cystic Fibrosis Centre is not in any rush to find out the other mutation. I, however, am. I would just like to know which one, so I can do my research. :)

Would my family doctor not be able to fill out a form? We live in British Columbia. Is there any other place in Canada that might be able to do the mutation screening? We had the basic panel done, which revealed the df508, and the other one was not detected. I tested for the df508, and my son's father was undetected also. (obviously that is where the other mutation is).

Thank you for any input and advice!

Angie
 
S

StevenKeiles

New member
Angie,

My understanding is that the only place in Canada that does full gene analysis of CFTR is Sickkids. We actually do a lot of testing for many hospitals throughout Canada including from Sickkids directly.

You can speak to your doctor about getting the testing authorized either by the local hospital or through the Ministry of Health in BC.

If they will not authorize it then you would have the option to pay out of pocket. If you are interested in pricing, contact me by my Ambry email address.

Good luck,

Steve
 
K

ktsmom

New member
Hi Steve -

General background - our younger daughter was diagnosed in August and her blood test came back double dF508

Background to Question #1:
This has to do with my older daughter, who did sit still for a sweat test, which was negative. We wanted to test her to see if she is a carrier and our CF doc agreed to the carrier test, but she would not hold still for the blood draw and I gave up at the time.

Question(s) #1: Her pediatrician would now like to do a blood draw for some other health reasons; the ped has a lab tech in her office so the actual blood draw would be done by them. Could they also at the same time draw blood for the carrier test if they had an Ambry kit? Can they call Ambry and get the kit? Is it pretty straight forward (i.e. could an "ordinary" lab person do it properly)? I understand that there is an option to check - "test only for dF508".

Background to Question #2:
My dad has lots of extended family on his side and would like to be tested (we could see if it is his side of the family that the alarm needs to be sounded)

Question #2: He is an MD himself; could he go to any lab and order the test, if he had the Ambry kit?

Thanks in advance for your consideration and I hope these questions made sense.

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)
 
A

agm

New member
Thank you Steve for your replies. I will ask if the CF Clinic doctor will give a referral for the Ambry test.

I have another question:

I have 5 children. First two are from a previous relationship. I am not sure if he is a CF carrier or not, and have no way to contact him. My 3 youngest are from the father of my son who has CF. Obviously, he is a carrier. When my son was tested positive for CF, we had all of the other 4 children do the sweat test. All were thankfully negative. However, one of my daughters from my previous relationship has had what appear to me to be "mild cf-like" symptoms. She has always had a lot of coughing. (I had taken her to many doctors as a baby and toddler). I was told this was asthma, then also told it wasn't anything. She is 12 years old, and weighs 80 lbs. She still coughs a LOT, and when she catches a cold, she seems to have it for a long time. She recently had strep, which appeared to have been present for a long time. She tires very easily.

My question is, (hoping you might be able to shed some light on this) how accurate would the sweat test be? The doctor said her test wasn't even borderline and not to worry, and that she likely had some kind of post nasal drip or something.

I'm still worried.

Thank you so much. Oh, if it makes any difference, my gene that she would have been "exposed to if you will" is df508.



Angie
 
E

elle

New member
Hi Steve,

My 4 month old baby girl was diagnosed with CF at 5 weeks. Her newborn screening found one DeltaF508 mutation and a sweat test was subsequently performed which came back positive. My partner and I have had the genetic testing, showing that he is a carrier of the DF508 mutation and I carry Thr1176fs. I am just wondering if you know anything about this particular combination? I understand about each CF case being different but I am curious as to whether anything is known about this particular combination-?! Also, is the Thr1176fs mutation more commonly found in any particular country/area? Thanks in advance if you can shed any light on this for me!

Kind Regards,

Elle
 
S

StevenKeiles

New member
Elle,

I need to know more about the exact name of the mutation. The way you have it written in not correct. If you have a copy of the results that would be more helpful. Feel free to fax me the report and I can take a look at it. I am not able to figure out what mutation based on how you have it written.

sorry,

steve
 
S

StevenKeiles

New member
Dana,

#1, All we need is one small tube of blood in a EDTA lavender top tube. All labs have this. The ambry kit is a tube, a box, paperwork and shipping information. The forms can be printed from the website and all labs have tubes so the kit is not necessary. However, we can send a kit anywhere if that would be helpful.

#2 Yes, however, since deltaF508 is the most common mutation it would be tested by any CF test that was ordered. If your father was only tested for just the deltaF508 and was negative, everyone in his family is still at risk for being a carrier of the 508 or any other CF mutation. Since CF testing would be recommended to anyone having a baby everyone on both sides of the family should still be offered testing. Therefore, given this mutation, it really doesn't matter which side of the family it came from because everyone still needs to be offered testing.

Regarding testing the siblings of someone who as two 508's, that becomes very easy, since all we have to do is check for 508 only.

STeve
 
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