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.

Harry's Illness {Part 1}

{One of my favorite baby pictures of Harry.  He was about 5 months old and had just learned to sit up.  He was in the process of laughing and falling when she shot this.  The Cafe au lait spot is visible there on his back.}

So I have alluded to some serious health issues with Harry. I have asked for your prayers (thank you for them). The other day, Harry gave me permission to share here what has been going on.  Last summer, he underwent a ton of testing for stomach issues/food allergies.  Ironically, a gastroenterologist noticed a large cafe au lait spot on Harry's back (you can see the spot in the photo above and another too).  He asked us if Harry has any more and I quickly said no. I really did not think he had any more. Doctors have always noticed that birth mark and always asked and I always thought that was the only one.

 But over the next few days, I noticed that he DID have a few more.  And I had this gut feeling that we should ask more about it. I swear the Holy Spirit would not let it go.  I just knew that I needed to ask the doctor why he asked about the spots. So, when Harry had some procedures with the gastroenterologist, I had Dave ask him about the spots (I did not want to seem like the crazy worried Mama).  The gastroenterologist said, "well as long as he doesn't have any in his armpit or groin, it is not a big deal."  I quickly said that Harry did not have any in those areas but Harry lifted his left arm and sure enough there were some in his left armpit. We had no clue. After Harry's procedure, the doctor came out and told Dave and I that we needed to see a neurologist to rule out a genetic disease called Neurofibromatosis 1.  We were stunned.  We were completely overwhelmed and terrified.

Neurofibromatosis is a genetic mutation.  In Harry's case it would have been a spontaneous mutation that occurred while I was pregnant since Dave and I do not have it.  There is no cure.  There is no treatment.  People with NF-1 typically get tumors called neurofibromas.  They develop on the nerves.  Some can be cancerous (10%).  They can be very painful.  They can be very disfiguring.  They cannot always be removed.  And if they are, they often return.  This disease can be mild or it can be really, really awful. Actress Gillian Anderson's brother, Aaron died from an NF tumor this summer.  He was 30 years old.  Children with NF1 are 200-500 times more likely to get leukemia.  There is no natural pre-determined course for this disease.  Every single case looks different.  There are a plethora of health issues that go along with this disease...too many to name.

When I found all of this out, my heart completely shattered.  The thought of my sweet, little freckly, funny Habu having this disease about did me in.  I was so sad for weeks.  I would look at him and wonder what his future would be.  I would look at him and wonder how many more pain free, tumor free days he would have as often puberty is when the tumors really develop.  I went through all the stages of grief.  And I prayed, a lot.

Then I realized that God already knew whether Harry had this disease.  No amount of worrying or crying would change that.  I suddenly felt more peaceful.  Let me say that I did wallow in doubt, fear and pity for a few good long weeks. I have never doubted that God has given Harry some really amazing gifts.  In fact, a woman sought me out at Mass last Sunday to tell me what incredible work Harry is doing on an anti-bullying committee at school.  She went on to tell me how articulate Harry is and what a good leader he is and how good his ideas are.  She looked right at Harry and told him he was special. This is the founder of an anti-bullying organization that met Harry at a meeting at his school.  Anyway, I am digressing but I KNOW that God has big plans for Harry. For a while though, I wondered if this disease would change him.  I worried it would defeat his spirit.  But now I know that whether Harry has this awful disease or not, God will still have big plans for him.  In fact, maybe this disease is part of the plan (although I really hope it is not).


To be continued....

I apologize for breaking this up into parts but it was emotionally exhausting to write it all and I need to do it in pieces.


Please pray for Miss Libbie.  She had surgery today.  I got to be there this morning before they took her back she was so cute and loopy from the meds.  That Libbie is a trooper. I am going back up to visit Shelly and Libbie for dinner tonight.  Love those girls!

Also, Cami is having surgery this Friday. I so wish I could be there to help them. They could use prayer as well.  It is going to be a long haul for them.


Finally, thank you for all the kind comments on my 5 year blog anniversary.  I loved reading every one.  And I plan to make the rounds visiting all of you who have blogs over the next few weeks.  I really appreciate you taking the time to say hello.