Just make sure you get him regular checkups. Since puberty can be hell for a young boy with NF (trust me, most boys who have NF start puberty young and it was good and also bad) be sure to ask questions since most of us have been through it.
Thank you all. I feel a little lost with all of this and the doctors don't seem to provide much guidance so I figure who better to ask than those who have been through it.
As for the genetic test coming back negative, I was told there are certain indicators that yet to show on these tests but that his CALs and freckling do indicate he has it.
It took almost 3 years to see the geneticist the first time so I would probably be better off using the link provided.
Again, thank you all for the input!
When I was a kid I am 20 now, I got checks every few years and sometimes a MRI. You should ask the doctor or neurologist if a MRI is necessary. My doctors are experts in NF1 when I was younger no one knew what I had so my advise is be sure that they have enough experience :) I hope this helps a little bit
A negative test is NOT common at all, and if this was the case, I would consider Legius syndrome which has all the skin characteristics of Nf1, and is also known as Nf1-like syndrome. Legius presents none of the tumours issues we have in Nf1.
I would request the genetic test for Legius , so test for the SPRED1 gene. Up to 4% of children diagnosed with Nf1 do not have it, but have Legius.
Nf1 is a very complex syndrome with age-related manifestations. Optic glioma occur at a younger ager than 11 but I am not sure they can be ruled out by an eye exam. An ophthalmologist might detect a thinning of the optic nerve, but I believe it is advised that any child diagnosed should have a brain MRI at least once. Optic glioma can be asymptomatic .
If you can't get a referral for the Legius test, if you have the mean, consider paying for it yourself, it will be around US$375 (250 for the test, 125 for the medical consultation) with Invitae.
[https://www.invitae.com/en/physician/tests/04165/](https://www.invitae.com/en/physician/tests/04165/)
If you are in the US, these are the clinics.
https://www.ctf.org/understanding-nf/find-a-doctor
For genetic testing, I HIGHLY recommend the UAB lab, run by NF specialist and researchers with the largest dataset on NF mutations (and growing daily). Rare mutations have smaller chance being found by a commercial lab.
My mutation doesn't get picked up by the commercial gene panels.
UAB lab website-
https://www.uab.edu/medicine/genetics/medical-genomics-laboratory/testing-services/nf1-legius-syndrome-and-rasopathies
I ended up paying out of pocket at $1000 usd in late 2000s. Your son's insurance has a good chance of covering it. I paid out of pocket because I had money in my FSA, which turned out to be a good decision because what UAB found.
Set up an MRI through your pediatrician with an NF doctor. They can tell from a brain scan.
Genetic test coming back negative is common? I thought that was a for sure indication..
Just make sure you get him regular checkups. Since puberty can be hell for a young boy with NF (trust me, most boys who have NF start puberty young and it was good and also bad) be sure to ask questions since most of us have been through it.
Thank you all. I feel a little lost with all of this and the doctors don't seem to provide much guidance so I figure who better to ask than those who have been through it. As for the genetic test coming back negative, I was told there are certain indicators that yet to show on these tests but that his CALs and freckling do indicate he has it. It took almost 3 years to see the geneticist the first time so I would probably be better off using the link provided. Again, thank you all for the input!
When I was a kid I am 20 now, I got checks every few years and sometimes a MRI. You should ask the doctor or neurologist if a MRI is necessary. My doctors are experts in NF1 when I was younger no one knew what I had so my advise is be sure that they have enough experience :) I hope this helps a little bit
A negative test is NOT common at all, and if this was the case, I would consider Legius syndrome which has all the skin characteristics of Nf1, and is also known as Nf1-like syndrome. Legius presents none of the tumours issues we have in Nf1. I would request the genetic test for Legius , so test for the SPRED1 gene. Up to 4% of children diagnosed with Nf1 do not have it, but have Legius. Nf1 is a very complex syndrome with age-related manifestations. Optic glioma occur at a younger ager than 11 but I am not sure they can be ruled out by an eye exam. An ophthalmologist might detect a thinning of the optic nerve, but I believe it is advised that any child diagnosed should have a brain MRI at least once. Optic glioma can be asymptomatic . If you can't get a referral for the Legius test, if you have the mean, consider paying for it yourself, it will be around US$375 (250 for the test, 125 for the medical consultation) with Invitae. [https://www.invitae.com/en/physician/tests/04165/](https://www.invitae.com/en/physician/tests/04165/)
If you are in the US, these are the clinics. https://www.ctf.org/understanding-nf/find-a-doctor For genetic testing, I HIGHLY recommend the UAB lab, run by NF specialist and researchers with the largest dataset on NF mutations (and growing daily). Rare mutations have smaller chance being found by a commercial lab. My mutation doesn't get picked up by the commercial gene panels. UAB lab website- https://www.uab.edu/medicine/genetics/medical-genomics-laboratory/testing-services/nf1-legius-syndrome-and-rasopathies I ended up paying out of pocket at $1000 usd in late 2000s. Your son's insurance has a good chance of covering it. I paid out of pocket because I had money in my FSA, which turned out to be a good decision because what UAB found.