Harry update and Kate and CNY

Wednesday, January 25, 2012
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.


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  2. So glad to hear an update on Harry. Happy Chinese New Year to your family!!

  3. Hi, Happy CNY

    As always I think you have such a beautiful family and am so impressed with how well you manage things. I know if must be so difficult for you at this time with Harry and his medical concerns.

    We have an acquaintance who lives in Utah. He is a grown, married man. He lives a full, happy life. If you are interested in talking to him, I'm pretty sure he would be happy to do so. He is very nice.

    Contact me if you want more info.


  4. Is this Kate featured on this??? http://www.minted.com/product/business-cards/MIN-Y34-BSC/playroom

    If not, it's her long lost twin!

  5. Praying for Harry and Emme Jade!

    Kate looks lovely in her silks and her lanterns look very festive hanging all together like that! My girls are really enjoying the holiday as well. Fun that you could go into Kate's classroom and teach the children about CNY; I bet they all loved it!

  6. I am so keeping my fingers crossed that Harry does not have it, I have a strong hunch that is the case. I am going to keep him in my prayers (and you) because I know how we parents carry the weight of the universe on our shoulders when our kids are going through something.
    How absolutley adoable it Kate? I love her pride and loyalty to her culture, its to be greatly admired. She looks so beautiful in her silks.......sending you my best wishes and a hug.
    PS Will say a prayer for your friend too having the operation today.

  7. Keeping Harry and all of you in my prayers.

    Love your CNY decorations and Miss Kate looks so beautiful!

    Happy CNY!


  8. Hey, my friend! You are right...sounds like the appt. gave you no new information. God has all of this under control. He knows what the dr.s don't. I'm praying for Harry (and you too!)

    I love that Kate is so excited about CNY! Soo fun!!

  9. Harry is in my prayers Kim...
    Kate looks so sweet in her silks, Lucy has been wearing hers too. I love how excited the girls are about CNY...we are doing our big celebration on Monday!

  10. Been praying for your son! What a journey for you and him! I had left you a comment a few posts ago regarding being interested in your ms recovery. I was wondering if you could email me at bjcalfee@hotmail.com I looked on here and could not find your email. You can email it to me if you don't mind. I had a doc appt today for some tingling (that I thought might be related to an inner ear virus) and the doc suggested ms and is making a neuro referral. I am slightly freaking out. Would really appreciate being able to talk to someone who's been down this road. Thanks!


  11. continuing to hold your sweet little man in my prayers precious friend

  12. We will be praying for Harry. thank you so much for sharing. Praying peace for your journey!

  13. Will keep Harry and your friend in my prayers. Love Kate in her outfit!! And the lanterns look like great fun!!
    Love Jules

  14. Don't the dreary days stink? Sun has been a short commodity around here! It does make it hard to take a picture, doesn't it?

    Happy New Year! I love that Kate's school is supporting her Chinese heritage. Love that!


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