Harry's illness {Part 2}

{I just love the way Harry looks in this snapshot taken on Christmas Eve}

I have been living with this mostly under my hat for about 6 months. I did not want to talk to my friends locally about it too much for various reasons. Harry did not want to know much about the disease either.  He knows he might have a disease and that these funny freckles/birthmarks are a sign of it but he did not want to know anymore than that.  I was okay with that.

So, we did a brain MRI this summer looking for an optic glioma.  It was clear.  Thank the Lord. Thank you all who prayed.  Then we waited to get in with some specialists.  See, Harry is on the edge of a clinical diagnosis.  He has 5 cafe au lait spots (CALS)  that meet the criteria of NF1 and axillary (armpit) freckling.  The diagnostic criteria is 6 CALS and armpit freckling or other things (2 of any of them).  He is frighteningly close (one cafe au lait spot away basically and we just might not have seen them all yet as some are hard to see without a special light).

Monday, we had an appointment with an ophthalmologist who specializes in NF.  He was looking for Lisch nodules which are kind of like freckles on the eye.  Harry did not have any Lisch nodules which is GREAT news.  The doctor told us that over 90% of kids with NF would have them by this age. Although the published literature claims 50% by his age so I am navigating all this information. Kate has been praying, "Dear God, please let them not find any freckles on Habu's eyes."  God heard her sweet little prayers.

We are not out of the woods yet.  See, there really are only two explanations for Harry's CAL spots and axillary freckling (migraines are a soft sign of NF too) and the other mutation is very, very rare.  It is very likely that Harry has NF1 because of these two hard signs and the migraines and other soft signs.  Hopefully, he has a mild case.  I am not sure when we will now for sure.

So, next Thursday (1/19) Harry will be poked and prodded once more by a geneticist and some NF specialists.  We will not have results for a long time.  The NF gene is HUGE and apparently it is a challenge to find mutations.  And this test is tricky.  Harry's case is somewhat rare in that mostly one side of his body seems to be affected thus far and so the mutation might not be in all the cells, so genetic testing might not be the most accurate for him.  If he has a "segmented or mosaic" form of the disease it is more difficult to find in the genetic testing.  In other words, we might not have answers for a very, very long time.  I have "met" a few people on the NF site who had all negative test results but do in fact have NF and did develop the tumors as young adults. There are a number of people out there like that. So, many people just play a waiting game which is so not easy for a control freak, planner type person like me.

I am posting this because I realized that there is a chance it could help someone else going through something like this. Already I have seen some connections and felt huge support from the first post and I am so grateful for that.  I also joined a neurofibromatosis site last summer and I cannot even tell you how much some of the people on that site have helped us navigate these muddy waters.  We learn so much from one another's stories and experiences.  And not to sound disrespectful-- but the other Moms on that site (not me) know more than some of the doctors we have seen.  They have read every single ounce of research there is and they live with this disease.

Also, we certainly could still use some prayers.  Although we got great news on Monday about his eyes not being effected thus far, Harry had a very hard day.  He cried a lot.  He woke up at 3am from a nightmare. The appointment was tough and he is emotional about all this.  And he is scared.  I think the gravity of it all finally hit him.

I would ask that you specifically pray for Harry.  He is terrified of needles and that poor boy has been stuck more in the last 6 months and we are not done yet. Please pray for healing and peace and clear answers.   We also need the wisdom and discernment of the doctors.  That would be great too. Thank you.

I do want to share one good thing that has already come from this (aside from all the prayer and support).  A year or so ago, Harry and I were struggling.  I even posted about it.  We were in a bit of a rough patch in our relationship.  I am not sure how we got in that rough patch in the first place but we have been so much better for a long time.  But these last few months, we are even closer.  He shares things with me and is vulnerable in a way he has not been for a very long time. He is more affectionate with me too.  It is like he knows I have his back.  He knows I am fighting for him.  Maybe it is none of that and just a phase.  Whatever it is, I am so grateful for how close we are right now.