It seems every time we blink lately our world is taking a 180 degree turn. We received the results from Justin's MRI and the findings are consistent with Neurofibromatosis Type 2.
Neurofibromatosis Type 2 (NF2) is a rare genetic disorder that is primarily characterized by benign tumors of the nerves in the ears and spine. Basically if you have NF2 your body doesn't produce Merlin (a protein that functions as a tumor suppressor). In some individuals NF2 is caused by new mutations of the gene that occur for unknown reasons and in others NF2 is inherited as an autosomal dominant trait. We think Justin has a new mutation as Jason and I don't have NF2...or at least we don't think we do. I'm sure we will be doing some genetic testing in the coming months that will help answer some of the questions regarding how Justin acquired NF2.
The MRI report shows a large multilobulated meningioma growing in many areas. The report also lists some other schwannomas/meningiomas and some tiny vestibular Schwannomas. We aren't sure about the number of tumors at this point.
Good News: The MRI of the spine was clear. Dr. Sifontes seems optimistic as far as treatment goes and has referred us to a Neurosurgeon (Dr. Lemole) at UMC whom we are seeing Friday. I was reading on the NF website and they recommended an NF Specialist/Clinic in Phoenix which I am working on getting an appt with as well. We will meet with both and decide from there whom we want to treat Justin.
The report also showed Justin has sinus disease. The CT Scan report stated Justin's left frontal sinus and his ethmoid sinus were enlarged...I wonder if this is the cause/effect of the sinus disease or something caused by NF2?!?!?!?!
We still have a lot of questions/concerns. We know Heavenly Father has a plan for Justin and this is part of it. I know Justin is capable of dealing with this while keeping his happy go lucky personality in tact. When Justin was 3 years old Jason and I visited the Temple with hopes of gaining knowledge and insight on how to raise him...he was a typical 3 year old...throwing tantrums, wanting his independance. Jason and I both felt impressed that all we needed to do was Love him and everything would work out...and so we have been doing just that and have faith things will work out.
2 comments:
I am so inspired by your faith through all of this. We love your family and are there for you!
Oh Emily I just love your family and will always have a special place in my heart for Justin! He is such a sweet loving boy and his happy personality will help him and you guys through this difficult trial. You're all in our prayers! Give Justin a big hug and tell him it's from me!!!
Post a Comment