...is what the doctor said, and my eyes swelled up with tears!
That, is the short version!
We had our appointment (for RM) with the neurogeneticist on Friday (May 6th) (for more details, see previous post here). Of course I went back to Dr. Google this last week and went over whatever I could lay my hands on about neurofibromatosis (NF). At the appointment RM was not "diagnosed" with NF1 (this would be NF1 and not NF2). You need two of the several features to exist, for a diagnosis to be made. RM has several spots (café au lait spots?) on his body, some of which are distinctly visible and some of which you will notice only when you hold him down and scan through his body. In general, when you look at him, nothing looks abnormal. Ever since I heard about NF, I have been (discretely) scanning other kids to see if they have any such spots/discoloration, and honestly... quite a few kids have them! Even RT has some spots on her.
I had more questions than what the doctor intended to discuss with us or give information to us about. Some of the things we discussed (about NF1) are as follows:
That, is the short version!
We had our appointment (for RM) with the neurogeneticist on Friday (May 6th) (for more details, see previous post here). Of course I went back to Dr. Google this last week and went over whatever I could lay my hands on about neurofibromatosis (NF). At the appointment RM was not "diagnosed" with NF1 (this would be NF1 and not NF2). You need two of the several features to exist, for a diagnosis to be made. RM has several spots (café au lait spots?) on his body, some of which are distinctly visible and some of which you will notice only when you hold him down and scan through his body. In general, when you look at him, nothing looks abnormal. Ever since I heard about NF, I have been (discretely) scanning other kids to see if they have any such spots/discoloration, and honestly... quite a few kids have them! Even RT has some spots on her.
I had more questions than what the doctor intended to discuss with us or give information to us about. Some of the things we discussed (about NF1) are as follows:
*80% of people affected with NF1 will live a "normal" life.
*There is a chance of learning disability, so it is important to be vigilant about his grasping power and (relative) milestones. At this juncture he is right on mark developmentally and we do not need to seek any therapy.
*We have to schedule an eye check up for him. NF1 kids can have issues with the eyes.
*RM has a slight curvature to his tibia (bone in the calf - visible only if I point it out to you). Our Ped had attributed it to his positioning in the womb. However, NF1 can cause weakness in bones and sometimes curvature in bones in the leg or spine. So, an x-ray was taken and we are supposed to be hearing from the doctor on Monday. If there is any issue with the x-ray we might be directed to an orthopedic. Sometimes such situation can make bones more prone to fracturing. Also, depending upon the situation, this could signify NF1 (remember, (above) you need 2 things to positively identify NF1?).
*NF1 can cause benign (and very rarely cancerous) tumors, they can be surgically removed but are often left as is (unless it causes any physical or cosmetic pain).
*We discussed his reflux, apnea, cardio (congenital heart defect - can be a concern for NF), IVF (I asked if there are any studies relating IVF to NF - answer was "no")... and nothing seemed concerning to the doctor. She (doctor) noted his birth weight and height. He currently weighs 25 lbs and is 30.5 inches long (at ~ 13.5 months).
*NF1 people can have big heads. She measured his head again (since it is in the 90+ %ile). Then she measured RT, Daddy and my head as well. We all fall in 90+ % (I am actually off the chart - 100+), and she thinks its a genetic thingy!
*She marked and measured all the spots for her record, assessed his joints, muscle strength, walking etc.
*Before my IVF cycle, I had met up with a genetic counselor about epilepsy (it runs in our family - see post here). From what I have read, NF1 could cause seizures... the doctor however, does not think there is a "high" correlation between epilepsy and NF1.
*As mentioned before (previous post), RM has a big spot on his right thigh - she said it was a mole (birth mark) since it was very dark. I also mentioned to her that I used to feel like quite a few spots on his body were new, but in fact I found many of those in pictures that were taken in the early months (after birth). Skin color changes over time and with growth the spots can expand, as a result they are more prominently seen (now) than they were before.
*He will be assessed annually to see if there are any changes in the spots. The size of some of the spots can increase proportionately with growth. Some new spots can pop up too.
One of the last questions I asked was - what do we need to look out for (new spots etc) and she said ENJOY HIM!! I-Wanted-To-Cry! And I am almost in tears as I type this up again. The doctor said, unless there is any drastic change in him, we should not worry.
*There is a chance of learning disability, so it is important to be vigilant about his grasping power and (relative) milestones. At this juncture he is right on mark developmentally and we do not need to seek any therapy.
*We have to schedule an eye check up for him. NF1 kids can have issues with the eyes.
*RM has a slight curvature to his tibia (bone in the calf - visible only if I point it out to you). Our Ped had attributed it to his positioning in the womb. However, NF1 can cause weakness in bones and sometimes curvature in bones in the leg or spine. So, an x-ray was taken and we are supposed to be hearing from the doctor on Monday. If there is any issue with the x-ray we might be directed to an orthopedic. Sometimes such situation can make bones more prone to fracturing. Also, depending upon the situation, this could signify NF1 (remember, (above) you need 2 things to positively identify NF1?).
*NF1 can cause benign (and very rarely cancerous) tumors, they can be surgically removed but are often left as is (unless it causes any physical or cosmetic pain).
*We discussed his reflux, apnea, cardio (congenital heart defect - can be a concern for NF), IVF (I asked if there are any studies relating IVF to NF - answer was "no")... and nothing seemed concerning to the doctor. She (doctor) noted his birth weight and height. He currently weighs 25 lbs and is 30.5 inches long (at ~ 13.5 months).
*NF1 people can have big heads. She measured his head again (since it is in the 90+ %ile). Then she measured RT, Daddy and my head as well. We all fall in 90+ % (I am actually off the chart - 100+), and she thinks its a genetic thingy!
*She marked and measured all the spots for her record, assessed his joints, muscle strength, walking etc.
*Before my IVF cycle, I had met up with a genetic counselor about epilepsy (it runs in our family - see post here). From what I have read, NF1 could cause seizures... the doctor however, does not think there is a "high" correlation between epilepsy and NF1.
*As mentioned before (previous post), RM has a big spot on his right thigh - she said it was a mole (birth mark) since it was very dark. I also mentioned to her that I used to feel like quite a few spots on his body were new, but in fact I found many of those in pictures that were taken in the early months (after birth). Skin color changes over time and with growth the spots can expand, as a result they are more prominently seen (now) than they were before.
*He will be assessed annually to see if there are any changes in the spots. The size of some of the spots can increase proportionately with growth. Some new spots can pop up too.
One of the last questions I asked was - what do we need to look out for (new spots etc) and she said ENJOY HIM!! I-Wanted-To-Cry! And I am almost in tears as I type this up again. The doctor said, unless there is any drastic change in him, we should not worry.
He is a beautiful-strong-child. RM and RT are my precious miracles. I have Faith, and I will fight for them!!
I'm so happy that the appointment went well!
ReplyDeleteI'm ever so glad the appointment went well and the Dr is not worried.
ReplyDeleteYay! That's such wonderful news to get on Mothers Day weekend. I was holding my breath, hoping everything would be OK. I can breathe now.
ReplyDeleteSo So So happy! Of cours, enjoy the child.
ReplyDeleteHoping your twins will have a superb life ahead!