Carnitine uptake deficiency

sarac986

Just got a call from our pediatrician. Little man's heel prick test came back abnormal and we are seeing a genetic specialist Next Week for possible CUD. Anyone have this before? Could be a false positive

SandNStarsNJ

While I do not have any previous experience, we did just receive a call from the pediatrician that our newborn blood screening came back inconclusive.  They required that we go back to the hospital and have the bloodwork done again as opposed to using those results though. 

 The weird part is when we asked the hospital how long the results would take they said three weeks, but we only just had our son on Friday and they appear to have results.  I'm hoping it's just sensitive lab work that they double check – I hope it is the same for you. Good luck! 

leighry

I've never heard of this before. but hopefully repeat blood work comes back fine for both of you

sarac986

They geneticist said they will collect a blood and urine sample (don't know how they are going to do that) and that results will come back in a week. The pediatrician said we need to get retested asap but the specialist said we can wait for the next available appointment since the enzyme that came back low wasn't life threatening. If he does have this disorder he will like have to be on a replacement enzyme and have a restricted diet his entire life.  Not the worst thing but I hope it was a false positive

SandNStarsNJ

So upon a discussion with our doctor today we got clarification that DS tested "borderline abnormal immune deficiency". We went for the retest and are awaiting the results. 

MrsBigTime

sarac986 said:

They geneticist said they will collect a blood and urine sample (don't know how they are going to do that) and that results will come back in a week.

I'm sure the sample won't need to be sterile, so the nurse will probably put a little bag over his penis and wait for the next time he pees. 

Im sorry, I'm sure this is so stressful! I'll be keeping you guys in my thoughts and prayers!

SandNStarsNJ

@sarac986 Have you received another round of results yet? We're still waiting and it's killing me. 

sarac986

So we are still waiting for test results, but after talking to the doctors we feel better. They basically said that his Carnatine levels could have been low  because mine are naturally low. If he does have a form of this disease he will just have to take a carnatine supplement the rest of his life. Otherwise he will be normal.  They will basically measure his levels in his blood and urine and compare them.  If they are about the same. He is good. If they do t rest match then we need some help. So it's not as bad as the internet make it seem  

sarac986

Oh and watching them draw his blood while I helped hold him down was awful. Cried like a baby

SandNStarsNJ

I hope it all works out @sarac986!

We just got the call this morning and he is completely clear!

MrsMaryK2016

@SandNStarsNJ Thats fantastic news! What a relief!

MrsBigTime

Oh, great! Wonderful news!

sarac986

That's awesome news!

sarac986

So we finally got results. His urine and blood levels are still low. This doesn't mean he has the disease yet. He will take the Carnatine supplement for a week then we go back for more blood and urine. They will also run a DNA test to confirm the disorder.  Kinda wish they did that the first time. So we really have two more weeks to wait this out. It's frustrating. Just want to know if my little man is OK or not. 

rspalding001

@sarac986 I'm sorry it's taking so long to get answers. Hang in there! Hopefully the DNA test results come back quickly.

SandNStarsNJ

@sarac986 fingers crossed 

sarac986

So I finally got test results back. According to the DNA tests little man does not have the deficiency but he is a carrier. His levels got up to normal levels with the supplement. We now went back to have his levels rechecked after stopping the supplement. I also am having my levels checked to see if mine are low as well. There may be a maternal factor to it or I might have the deficiency. So long story short is that we still need to figure out why his levels are low...

sarac986

Little man's last test came back normal!!! No more tests and no medicine!! Happy momma 

MrsBigTime

sarac986 said:

Little man's last test came back normal!!! No more tests and no medicine!! Happy momma 

Wonderful news!