Some good news and some bad news

Okay the good news first, Harry's genetic tests for both NF1 and Spred 1 were both normal.  That sounds like GREAT news, right?  Well, it is and it isn't.  I got the results almost 2 weeks ago but just got the opportunity to speak with the genetic clinic yesterday to get more information.  So here is the situation... Harry meets one of the clinical criteria clearly and is extremely close to meeting the second (he has 5 Cafe au lait spots and the criteria is 6).  They strongly believe he has a version of this disease called "segmental NF."  This is a form of NF1 where not all of the cells have the mutation therefore, genetic testing often does not catch the mutation.  Typically, people with segmental NF have milder cases and live rather normal lives but not always.  They can suffer from all the complications that people with full blown NF1 suffer from, it is just harder to get a definitive diagnoses.  At this point, Harry is doing very well.  Hopefully, we will not need to think about NF1 again until he decides to start a family since it is a genetic disease and he could pass the full blown illness onto children.  We would appreciate your continued prayer that Harry does NOT develop any more NF1 symptoms.  He took the news pretty hard even though I tried to explain to him that really this was GREAT news (at least it is not full blown NF1).

I am SO grateful that God had such a BIG plan for our family.  It is no accident that Harry has an adopted sister.  Harry and his future wife will have some decisions to make someday about how to grow their own family and I have no doubt that having spent his life adoring and loving his little sister will factor into that and keep his heart open to adoption.

Okay, now onto my heart thing.  Thank you for all the kind comments and thoughts. They meant SO much to me.  I love this blogging community. One thing the doctor assured me of is that this condition is NOT anxiety or stress related.  See, I have extremely low blood pressure and when I stand it is not getting to my head and my heart accelerates. So I constantly feel like I am going to pass out. That is an autonomic body response and it is not happening in m body. There is an illness called Postural Orthostatic Tachycardia Syndrome.  I am fitting the description for that.  It is not caused my stress or anxiety at all.  In fact, I have not felt stressed in the last few weeks.  I had total peace about Harry's illness and I will tell you why in a minute.  I have an appointment with a cardiologist in a few weeks to try to get a real diagnoses.  In the meantime, I am trying to sit as much as I can and elevate my legs (which is very hard when you are a Mom to 3 very busy kids), cut out caffeine (I did not drink much anyway), drink a ton of water (which I do anyway) and other things the doc has recommended.  So, what has helped me with stress in the last few weeks/months???  It is a scripture verse...

Matthew 6:  25-27 tells us:

 “Therefore I tell you, do not worry about your life, what you will eat or drink; or about your body, what you will wear. Is not life more than food, and the body more than clothes?  Look at the birds of the air; they do not sow or reap or store away in barns, and yet your heavenly Father feeds them. Are you not much more valuable than they? Can any one of you by worrying add a single hour to your life?

I had read this passage many times before but when I was worried about Harry's illness a few months ago, it really spoke to me.  I was particularly changed by the last question.. Can anyone add a single hour to their life by worrying?  NO.  Something huge shifted in me and I gave all my worries to God and I have felt great ever since.  If I catch myself worrying, I simply ask, "is this worrying adding one hour to my life?"

I recently attended a Bible study and the theme was that God is the event planner of our life.  He has a design for each day of our life.  It is our job to show up in obedience and use the gifts He has given us praising Him all the while.  It is such a relief to think that He is planning it all out for us.

Harry update and Kate and CNY

So, I have been trying to put into words what happened at our appointment.  And in a way, nothing really happened.  I had done SO MUCH research on this disease.  I even took a webinar on it last summer from a leading expert at the NIH.  So, I knew all of the possibilities of Harry's case.  Although I will admit that I was secretly hoping there was something I was missing.  It is very complex.

The geneticist came in and asked us if we would be willing to let a hospital photographer photograph Harry (and us) for a brochure during the appointment.  It will be used to try to raise money for the clinic.  We agreed so Harry might be on the brochure for them which is kind of nice.  It is good to help out.

But back to the appointment...she began by saying that she reviewed Harry's lengthy chart (he has had major GI issues since the day he was born) and that based on everything she has read and seen she felt certain that he did not have NF1.  I felt one second of joy.

She took a lengthy family history and talked to us for about an hour and then she examined Harry.  And of course, she saw the marks.  He has 5 or 6 (one is questionable) cafe au lait spots that meet the diagnostic criteria (size and shape) and axillary freckling (a distinct type of armpit freckling). The diagnostic criteria is 6 or more cafe au lait spots and axillary freckling (OR other symptoms that Harry does not have).  She said he was a very "interesting" case because thus far he only has skin involvement in this disease.  She vacillated back and forth between saying he probably does not have NF1 to saying he is "borderline."  I knew all of that.

This is probably more than anyone is interested in but because I have had a few readers whose children are also going through this and some far away friends that want an update,  so I am giving details.  Also, at least two Moms e-mailed me that their children have similar skin involvement and our post has prompted them to get it checked out. Plus, I will have it for later reference.  The geneticist did think it was worth doing the genetic testing either now or in a few years.  We chose now. 

If Harry has this disease, so far, the specialist thinks he has a more rare (and hopefully mild) case of it called segmented or mosaic NF1 which means that not all of his cells are involved.  The good news is he would probably have a mild case and live a relatively normal life. Although this disease is so unpredictable one never knows. The bad news is that the genetic testing does not pick it up very well because not all the cells have the mutation. So, we could be left not knowing.  And we need to know because he pass on the full blown disease to future children.  The mosaic form only occurs in spontaneous mutations.  If is is genetically passed on, the disease is full force.

So, we wait 6 weeks and in our case a negative test result will not mean he doesn't have it.  It will just mean they could not find the mutation in that sample.  There is one other very rare disease that causes this hyper-pigmentation as well.  If the NF1 test comes back negative, they will run that test as well.  So, we wait and see. I have complete peace about it now.  In all honesty, I know in my gut he has it.  I believe it is a mild segmented case.  And I believe he is going to be absolutely fine.  But I also think the genetic test will be negative.  I have "met" many adults on the NF1 site that have had a false negative genetic test and now have some NF1 tumors.  So, I know it happens.  Medicine is not an exact science.

Now onto other things.  This week is Chinese New Year and Kate is beyond excited.  Seriously, it is all she talks about.  She has worn her various silks to school every day.  They have a uniform at school but her teacher is letting her wear them this week for her cultural heritage and Kate is so proud.  We have decorated the house and we are having Hoot and Libbie's family over to celebrate this weekend.  Kate is counting down the days.  She loves her friend, Libbie.

I went into Kate's class to teach about Chinese New Year on Monday.  We read books, made lanterns, brought dumplings and red envelopes with goodies.  It was a lot of fun. Kate was confident and excited to share her culture with the class.

Here is a sneak peek of some of our decorations.  I am not exaggerating when I tell you that Kate was more excited for Chinese New year than she was for Christmas morning.  She loves it.

I have not gotten very good photos of Kate in her Chinese silks as we have had rainy and overcast weather all week.  In fact, there are tornado and flash flooding warnings right now for today.  I am NOT leaving my house today as I do not want to get stuck like I did last week.  And I do not need more damage to my newly repaired car:)

Finally, please keep our friend Emme Jade in your prayers as she has surgery tomorrow to release a tethered spinal cord.  I know Di and her whole family would love to be completely covered in prayer.

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.