In need of guidance please!!!!!

L

lalasmomallie

New member
Hi everyone. I'm new to this group so please bare with me. Over 14 months ago, our then 2 y/o dd becme ill. Finally was diagnosed with toxoplasmosis. (something most of us are exposed to but it typically doesn't become symptomatic). She was treated (very rare in "healthy" kids) with a heavy drug cocktail after 3 rounds of antibiotics that didn't kick it. She improved for a month or so but then started to crash again. Her latest round of tests show that her body isn't fighting off this infection like it should but they don't know why. CT shows a chronic sinus infection which isn't surprising since she seems to move from one upper respiratory infection to the next. She has the constant dark circles under her eyes and is very pale (although she isn't anemic). She has frequent night sweats and c/o stomach ache almost every day. Her poops are often loose and when they aren't they are extremely large for a 3 y/o and they typically float. (Which I didn't know was a problem until recently). She also has severe fatigue. We've been scheduled for a sweat test in 2 weeks (the soonest they said they could do it) but as I've been reading like a fiend on your web site it sounds like I should also be asking for the genetic testing as well. So here are my questions (finally)!!!

1. What do I ask for. Is it the Ambry test:CF amplified? I want the most comprehensive. I don't care about insurance issues or cost.
2. Are there any typical lab values that are frequently abnormal in CF kids.
3. What else should I be doing or asking for?

Thank you all for your support and help. My prayers are with each of you.
 
L

lalasmomallie

New member
Hi everyone. I'm new to this group so please bare with me. Over 14 months ago, our then 2 y/o dd becme ill. Finally was diagnosed with toxoplasmosis. (something most of us are exposed to but it typically doesn't become symptomatic). She was treated (very rare in "healthy" kids) with a heavy drug cocktail after 3 rounds of antibiotics that didn't kick it. She improved for a month or so but then started to crash again. Her latest round of tests show that her body isn't fighting off this infection like it should but they don't know why. CT shows a chronic sinus infection which isn't surprising since she seems to move from one upper respiratory infection to the next. She has the constant dark circles under her eyes and is very pale (although she isn't anemic). She has frequent night sweats and c/o stomach ache almost every day. Her poops are often loose and when they aren't they are extremely large for a 3 y/o and they typically float. (Which I didn't know was a problem until recently). She also has severe fatigue. We've been scheduled for a sweat test in 2 weeks (the soonest they said they could do it) but as I've been reading like a fiend on your web site it sounds like I should also be asking for the genetic testing as well. So here are my questions (finally)!!!

1. What do I ask for. Is it the Ambry test:CF amplified? I want the most comprehensive. I don't care about insurance issues or cost.
2. Are there any typical lab values that are frequently abnormal in CF kids.
3. What else should I be doing or asking for?

Thank you all for your support and help. My prayers are with each of you.
 
L

lalasmomallie

New member
Hi everyone. I'm new to this group so please bare with me. Over 14 months ago, our then 2 y/o dd becme ill. Finally was diagnosed with toxoplasmosis. (something most of us are exposed to but it typically doesn't become symptomatic). She was treated (very rare in "healthy" kids) with a heavy drug cocktail after 3 rounds of antibiotics that didn't kick it. She improved for a month or so but then started to crash again. Her latest round of tests show that her body isn't fighting off this infection like it should but they don't know why. CT shows a chronic sinus infection which isn't surprising since she seems to move from one upper respiratory infection to the next. She has the constant dark circles under her eyes and is very pale (although she isn't anemic). She has frequent night sweats and c/o stomach ache almost every day. Her poops are often loose and when they aren't they are extremely large for a 3 y/o and they typically float. (Which I didn't know was a problem until recently). She also has severe fatigue. We've been scheduled for a sweat test in 2 weeks (the soonest they said they could do it) but as I've been reading like a fiend on your web site it sounds like I should also be asking for the genetic testing as well. So here are my questions (finally)!!!

1. What do I ask for. Is it the Ambry test:CF amplified? I want the most comprehensive. I don't care about insurance issues or cost.
2. Are there any typical lab values that are frequently abnormal in CF kids.
3. What else should I be doing or asking for?

Thank you all for your support and help. My prayers are with each of you.
 
F

folione

New member
Sweat and genetic tests tend to be the way to diagnose CF.

About the sweat test (from CFF.org):
In general, sweat chloride concentrations less than 40 mmol/L are normal (does not have CF); values between 40 to 60 mmol/L are borderline, and sweat chloride concentrations greater than 60 mmol/L are consistent with the diagnosis of CF.

About the Ambry test: there's an Ambry representative on the "Families" forum - you should post the question there for him to answer best (if it's not already there)

Other lab tests: My son has always had normal labs.
 
F

folione

New member
Sweat and genetic tests tend to be the way to diagnose CF.

About the sweat test (from CFF.org):
In general, sweat chloride concentrations less than 40 mmol/L are normal (does not have CF); values between 40 to 60 mmol/L are borderline, and sweat chloride concentrations greater than 60 mmol/L are consistent with the diagnosis of CF.

About the Ambry test: there's an Ambry representative on the "Families" forum - you should post the question there for him to answer best (if it's not already there)

Other lab tests: My son has always had normal labs.
 
F

folione

New member
Sweat and genetic tests tend to be the way to diagnose CF.

About the sweat test (from CFF.org):
In general, sweat chloride concentrations less than 40 mmol/L are normal (does not have CF); values between 40 to 60 mmol/L are borderline, and sweat chloride concentrations greater than 60 mmol/L are consistent with the diagnosis of CF.

About the Ambry test: there's an Ambry representative on the "Families" forum - you should post the question there for him to answer best (if it's not already there)

Other lab tests: My son has always had normal labs.
 
L

Liamsmommy

New member
Just wanted to say that my thoughts and prayers are with you.

I sent you a private msg hope you get something useful from it. (if you havent used private msg its in the top left corner)

Shawna
 
L

Liamsmommy

New member
Just wanted to say that my thoughts and prayers are with you.

I sent you a private msg hope you get something useful from it. (if you havent used private msg its in the top left corner)

Shawna
 
L

Liamsmommy

New member
Just wanted to say that my thoughts and prayers are with you.

I sent you a private msg hope you get something useful from it. (if you havent used private msg its in the top left corner)

Shawna
 
J

JRPandTJP

New member
While testing you could ask for enzymes to see if they help improve her digestion and nutritional status. They are benign (won't hurt her) and could really help while you wait. Do they have her on any supplements? Have they checked for vitamin deficiencies? Vitamin deficiencies due to malabsorption can be of great concern. A ADEK vitamin taken with enzymes could be useful until a confirmation or denial can be made. A probiotic may help to soothe inflammation in the gut.

Have they checked for CELIACS? This presents with similar symptoms sometimes and can make children very ill and unable to fight infection. Just a thought.

Warmly,
 
J

JRPandTJP

New member
While testing you could ask for enzymes to see if they help improve her digestion and nutritional status. They are benign (won't hurt her) and could really help while you wait. Do they have her on any supplements? Have they checked for vitamin deficiencies? Vitamin deficiencies due to malabsorption can be of great concern. A ADEK vitamin taken with enzymes could be useful until a confirmation or denial can be made. A probiotic may help to soothe inflammation in the gut.

Have they checked for CELIACS? This presents with similar symptoms sometimes and can make children very ill and unable to fight infection. Just a thought.

Warmly,
 
J

JRPandTJP

New member
While testing you could ask for enzymes to see if they help improve her digestion and nutritional status. They are benign (won't hurt her) and could really help while you wait. Do they have her on any supplements? Have they checked for vitamin deficiencies? Vitamin deficiencies due to malabsorption can be of great concern. A ADEK vitamin taken with enzymes could be useful until a confirmation or denial can be made. A probiotic may help to soothe inflammation in the gut.

Have they checked for CELIACS? This presents with similar symptoms sometimes and can make children very ill and unable to fight infection. Just a thought.

Warmly,
 
L

lalasmomallie

New member
Jody,
Thanks for your help. They did suspect Celiacs at one time but apparently the lab results didn't support this diagnosis. I'm at a complete loss right now because I feel as though I can't get anyone to understand my frustrations. We are going tomorrow for our genetic testing (only because I demanded it and said I didn't care whether or not insurance covers it since we haven't gotten the sweat test results as of yet). I will definitely be asking about the enzymes and supplements. We are currently not on any meds or vitamins. I just want for Haddie to feel better. I can't stand to see my 3y/o laying on the couch while everyone else is outside running around. She even fell asleep on the doctor's table in the middle of an exam - but "she looks pretty normal from her lab values". What a joke! But seriously, thank you for the insight. I will be asking about that tomorrow. The docs already hate me enough as it is so what's another request going to hurt!
Blessings,
Allie
 
L

lalasmomallie

New member
Jody,
Thanks for your help. They did suspect Celiacs at one time but apparently the lab results didn't support this diagnosis. I'm at a complete loss right now because I feel as though I can't get anyone to understand my frustrations. We are going tomorrow for our genetic testing (only because I demanded it and said I didn't care whether or not insurance covers it since we haven't gotten the sweat test results as of yet). I will definitely be asking about the enzymes and supplements. We are currently not on any meds or vitamins. I just want for Haddie to feel better. I can't stand to see my 3y/o laying on the couch while everyone else is outside running around. She even fell asleep on the doctor's table in the middle of an exam - but "she looks pretty normal from her lab values". What a joke! But seriously, thank you for the insight. I will be asking about that tomorrow. The docs already hate me enough as it is so what's another request going to hurt!
Blessings,
Allie
 
L

lalasmomallie

New member
Jody,
Thanks for your help. They did suspect Celiacs at one time but apparently the lab results didn't support this diagnosis. I'm at a complete loss right now because I feel as though I can't get anyone to understand my frustrations. We are going tomorrow for our genetic testing (only because I demanded it and said I didn't care whether or not insurance covers it since we haven't gotten the sweat test results as of yet). I will definitely be asking about the enzymes and supplements. We are currently not on any meds or vitamins. I just want for Haddie to feel better. I can't stand to see my 3y/o laying on the couch while everyone else is outside running around. She even fell asleep on the doctor's table in the middle of an exam - but "she looks pretty normal from her lab values". What a joke! But seriously, thank you for the insight. I will be asking about that tomorrow. The docs already hate me enough as it is so what's another request going to hurt!
Blessings,
Allie
 
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