NF1 testing scheduled!

[mrsfarmer]

Thanks to a thread back in May about NF1 and with the encouragement of Captain Serious and underwaterrhymes DH & I have been pursuing how to get DD1 in for an evaluation for NF1 due to her birth father's medical history of it.  After a couple of months of phone tag and waiting for referrals, I got a call today that there is a clinic 45 minutes from our house, not the original 2 hours that I found online that can do the initial screening and genetic counseling!  We are able to get her in already Monday, August 17th.

I have never started a thread on ML, just replied to threads, but I really wanted to thank the very helpful posters who encouraged me to pursue this!

[underwaterrhymes]

I'm so glad that they're getting you in!

Because of her family history, they may be able to make a clinical diagnosis right there in the office, depending upon the presence of other symptom(s). (They just need two to make a clinical diagnosis.)

Thinking of you and sending good luck wishes.

[sark]

That's great! My son has an optic nerve glioma, which is somewhat common in children with NF1. He went through all the genetic testing (at Mayo- if that's where you're going, let me know if you have any questions!) It was pretty simple- blood work and a very, very thorough examination, including our complete family history. His results came back negative, but we will be on the lookout for symptoms for quite a few years because a negative right now doesn't mean it will be negative forever. I will say, the wait time for the blood work was hard because they have to send it out. It was a few weeks before we heard anything. Good luck with your daughter!

[mrsfarmer]

Jul 28, 2015 13:08:34 GMT -5 underwaterrhymes said:

I'm so glad that they're getting you in!

Because of her family history, they may be able to make a clinical diagnosis right there in the office, depending upon the presence of other symptom(s). (They just need two to make a clinical diagnosis.)

Thinking of you and sending good luck wishes.

I am contacting CPS to find out if they still have contact info for birth father and if he's willing to release any medical records since it will really help us out.  They want to know if he had clinical diagnosis and/or genetic testing done. 

[mrsfarmer]

Jul 28, 2015 13:12:37 GMT -5 sark said:

That's great! My son has an optic nerve glioma, which is somewhat common in children with NF1. He went through all the genetic testing (at Mayo- if that's where you're going, let me know if you have any questions!) It was pretty simple- blood work and a very, very thorough examination, including our complete family history. His results came back negative, but we will be on the lookout for symptoms for quite a few years because a negative right now doesn't mean it will be negative forever. I will say, the wait time for the blood work was hard because they have to send it out. It was a few weeks before we heard anything. Good luck with your daughter!

Thanks!  We were looking at possible having to go to the NF-1 clinic at the U of M, but our network of clinics has a genetic testing clinic in St. Cloud with a Nurse Practitioner well trained in NF-1 that we will be initially seeing.

[underwaterrhymes]

Jul 28, 2015 13:12:37 GMT -5 sark said:

That's great! My son has an optic nerve glioma, which is somewhat common in children with NF1. He went through all the genetic testing (at Mayo- if that's where you're going, let me know if you have any questions!) It was pretty simple- blood work and a very, very thorough examination, including our complete family history. His results came back negative, but we will be on the lookout for symptoms for quite a few years because a negative right now doesn't mean it will be negative forever. I will say, the wait time for the blood work was hard because they have to send it out. It was a few weeks before we heard anything. Good luck with your daughter!

I'm so sorry about his optic nerve glioma.

If it was negative, though - unless they botched it in the lab - he shouldn't have NF-1. Did they tell you why they thought they'd have to continue to monitor him for it? Because it's a genetic disorder, it's not something he could develop. It's just something he would have from birth.

[sark]

Jul 28, 2015 14:00:57 GMT -5 underwaterrhymes said:

Jul 28, 2015 13:12:37 GMT -5 sark said:

That's great! My son has an optic nerve glioma, which is somewhat common in children with NF1. He went through all the genetic testing (at Mayo- if that's where you're going, let me know if you have any questions!) It was pretty simple- blood work and a very, very thorough examination, including our complete family history. His results came back negative, but we will be on the lookout for symptoms for quite a few years because a negative right now doesn't mean it will be negative forever. I will say, the wait time for the blood work was hard because they have to send it out. It was a few weeks before we heard anything. Good luck with your daughter!

I'm so sorry about his optic nerve glioma.

If it was negative, though - unless they botched it in the lab - he shouldn't have NF-1. Did they tell you why they thought they'd have to continue to monitor him for it? Because it's a genetic disorder, it's not something he could develop. It's just something he would have from birth.

OMG, I know, right? It's either yes or no. But the doctor was very adamant that we understood that he could still have NF1. It really makes no sense, but she said a negative result does not automatically rule out NF1. It just means the mutation wasn't found. I realize what I'm saying makes no sense whatsoever. I *think* it has to do with the 5% of adults with NF1 that don't have the mutation. 

[underwaterrhymes]

Jul 28, 2015 14:18:47 GMT -5 sark said:

Jul 28, 2015 14:00:57 GMT -5 underwaterrhymes said:

I'm so sorry about his optic nerve glioma.

If it was negative, though - unless they botched it in the lab - he shouldn't have NF-1. Did they tell you why they thought they'd have to continue to monitor him for it? Because it's a genetic disorder, it's not something he could develop. It's just something he would have from birth.

OMG, I know, right? It's either yes or no. But the doctor was very adamant that we understood that he could still have NF1. It really makes no sense, but she said a negative result does not automatically rule out NF1. It just means the mutation wasn't found. I realize what I'm saying makes no sense whatsoever. I *think* it has to do with the 5% of adults with NF1 that don't have the mutation. 

Gotcha.

I'm not a scientist, so my understanding of this is limited to my own experience with NF-1. (I was diagnosed in early 2012 at the age of 37. I only have the cafe-au-laits and inguinal / axillary freckling, but it was confirmed with the blood test. I'm the only one they've ever seen with my particular mutation, which is actually a misspelling on the NF gene.)

[tacocat]

Good luck! I am another NF1er so let me know if you have any questions! I was diagnosed clinically so they didn't even need to do the testing but it is usually easy to do if needed.

[Captain Serious]

I'm so glad you got her in! I hope the wait for results isn't too difficult, but like the others have said, they may be able to do a clinical diagnosis if she has two signs. That's what we did for J, and we don't have any medical history for his biological family at all.

sark I'm so sorry about you son's optic glioma. We are worried about that for J, because his vision just isn't right. It seems to change from day to day, but his eyes measure well according to the ophthalmologists. We had an MRI done this Spring, and they found a torturous/bent optic nerve, but did not see a glioma. We will continue to monitor him closely because even though he's already 8, they just don't know what's causing his vision issues. Can I ask, is your son receiving any treatment for his OG?

[sark]

Jul 28, 2015 20:27:11 GMT -5 Captain Serious said:

I'm so glad you got her in! I hope the wait for results isn't too difficult, but like the others have said, they may be able to do a clinical diagnosis if she has two signs. That's what we did for J, and we don't have any medical history for his biological family at all.

sark I'm so sorry about you son's optic glioma. We are worried about that for J, because his vision just isn't right. It seems to change from day to day, but his eyes measure well according to the ophthalmologists. We had an MRI done this Spring, and they found a torturous/bent optic nerve, but did not see a glioma. We will continue to monitor him closely because even though he's already 8, they just don't know what's causing his vision issues. Can I ask, is your son receiving any treatment for his OG?

My son is kind of a wonky case. He had unexplained nystagmus when he was about 6 months old, so they did an MRI, telling us that probably would not find anything and that it was just a precaution. Low and behold, they saw his tumor right where is optic nerves meet and extending a bit back into his hypothalamus. The wonky part is that aside from his nystagmus, which resolved on its own by the time he was 9 months old, he has zero symptoms-- perfect vision, negative NF1 results, no issues with his growth/development. We monitor the tumor by MRI's every 6 months and we have a very long list of symptoms we are on the lookout for. When he was initially diagnosed, his neurologist pushed chemo, but I just wasn't comfortable with putting my 9 month old baby on chemo for a type of tumor that isn't known for being aggressive. (Disclaimer- that last sentence sounds like I disregarded the doctor's advice, but we came to that conclusion over the course of several months and with several other doctors on his team. Luckily, it's been the right decision.)

I'm so sorry you're dealing with this. The intricacies of the brain just lead to a lot of unknowns. And they can't exactly go in for exploratory surgery. I hope you get some answers soon. 

[Captain Serious]

I'm so glad you got her in! I hope the wait for results isn't too difficult, but like the others have said, they may be able to do a clinical diagnosis if she has two signs. That's what we did for J, and we don't have any medical history for his biological family at all.

sark I'm so sorry about you son's optic glioma. We are worried about that for J, because his vision just isn't right. It seems to change from day to day, but his eyes measure well according to the ophthalmologists. We had an MRI done this Spring, and they found a torturous/bent optic nerve, but did not see a glioma. We will continue to monitor him closely because even though he's already 8, they just don't know what's causing his vision issues. Can I ask, is your son receiving any treatment for his OG?

My son is kind of a wonky case. He had unexplained nystagmus when he was about 6 months old, so they did an MRI, telling us that probably would not find anything and that it was just a precaution. Low and behold, they saw his tumor right where is optic nerves meet and extending a bit back into his hypothalamus. The wonky part is that aside from his nystagmus, which resolved on its own by the time he was 9 months old, he has zero symptoms-- perfect vision, negative NF1 results, no issues with his growth/development. We monitor the tumor by MRI's every 6 months and we have a very long list of symptoms we are on the lookout for. When he was initially diagnosed, his neurologist pushed chemo, but I just wasn't comfortable with putting my 9 month old baby on chemo for a type of tumor that isn't known for being aggressive. (Disclaimer- that last sentence sounds like I disregarded the doctor's advice, but we came to that conclusion over the course of several months and with several other doctors on his team. Luckily, it's been the right decision.)

I'm so sorry you're dealing with this. The intricacies of the brain just lead to a lot of unknowns. And they can't exactly go in for exploratory surgery. I hope you get some answers soon.

Thank you so much for sharing this. I completely understand what you mean about holding back in the chemo. When I was reading about OGs, it seemed fairly common not to treat them aggressively, which is why I asked. In fact, if I understood correctly, my reading made it seem like they just sort of shrink or go away over time in some NF patients--but that seems even weirder. That's why I asked.

Can @volare share any insight into this? She works with ophthalmologists who see a lot of NF patients, if I remember correctly.

Also, sark, I hope you soon doesn't show any more symptoms and his vision remains clear. Not knowing what to expect is so frustrating.

mrsfarmer, I'm sorry I highjacked your thread. I know I urged you to have your daughter seen by a specialist and/or get the testing done. I am hoping her results come back quickly and negative for NF.

[mrsfarmer]

tacocat and Captain Serious Right now, I'm really hoping that CPS can get in contact with birth father to get the question answered about clinical diagnosis vs genetic testing and if he'll sign a release of medical records. The clinic said that would be the most helpful. Quite ironically, though, if she doesn't have his current contact info, a friend of a friend happens to know him. I'm not sure how I would approach it, but I've been told he's a very nice guy.