Bloody Nose Update (long w/ PIP of blood) — The Bump
Special Needs

Bloody Nose Update (long w/ PIP of blood)

Background: Since Nate was about 1ish he has had pretty significant bloody nose episodes. I am washing bloody sheets about twice a month.

After trying the nose sprays and taking him off all blood thinning type supplements (I.e. Fish oil) and finally a cauterization that worked for one side but not the other, I'd had enough. I don't think the pedi, dev pedi, ENT or genetics got what we were telling them about the severity of these bloody noses.

We just had our yearly genetics appointment and I insisted on a CBC and blood draws for clotting issues. Turns out, Nate's RBC, WBC and Mean platelet volumes are abnormal. These results, in conjunction with how his chromo deletions are arranged, hearing loss, short stature and thumb abnormality have triggered a Chromosome Breakage Study. They want to rule out Fanconi Anemia.

The genetic counselor said not to Google. I did. Basically FA affects how blood cells replicate. You get a bunch of abnormal blood cells and your counts and volume of normal functioning cells gets lower and lower. Eventually, you will get some form of leukemia. Average life expectancy is 30.

I am really hoping this potential dx falls by the wayside like the blindness and glaucoma dxs. We are going to wait until our Endo appointment on Dec 3 for the blood draw. Here is an example of the amount of blood loss he has. The circle next to the stain is a quarter.

I don't understand why our lives have to be this way. It always seems like we get awesome news (no aid needed at school) and before we can even really enjoy it. we get totally sucky news or news that keeps me awake at night worrying until it is ruled out.
Thanks for letting me whine.
WAY 2 Cool 4 School


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Re: Bloody Nose Update (long w/ PIP of blood)

  • Oh, hon. I'm so sorry. I hope you get an answer soon.
    Baby Birthday Ticker Ticker
    11/10/10 The Kid
  • I'm sorry.. I hope you get answers soon!
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  • Oh, man. Big hugs your way. I hope you get answers -- and a solid rule-out! -- soon. 
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    DD1, 1/5/2008 ~~~ DD2, 3/17/2010
  • I am so sorry. I hope the testing goes well and that you get the results right away.
  • I'm so sorry, Assembly.  I hope you get some answers really soon.
  • I'm sorry you're dealing with this. Fingers crossed the testing comes back negative.
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  • Assembly_ReqdAssembly_Reqd
    Seventh Anniversary 2500 Comments 250 Answers 500 Love Its
    member
    edited November 2013
    -auntie- said:
    I am so sorry. 

    How long will the test results take once the labs are drawn?
    No clue. I am assuming a really Happy Christmas or a really sad one.

    ETA: I believe they have to grow cells in the lab and watch how they divide. One website said 2-3 weeks for final results.

    The good news is that he is of the wrong ethnicity for when FA is more common, and it is an recessive gene disorder. He would have to inherit the faulty gene from both of us, or the faulty gene from one of us and the other one would be in the chromosome 1 areas he is missing, or there is one FA gene on the x chromosome and he would get a crappy copy from me.
    WAY 2 Cool 4 School


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  • Sending good thoughts! I hope you get an answer ASAP!

    DS 09/2008

  • We're thinking of you guys.  Praying you get good results and they figure out something!
    To my boys:  I will love you for you Not for what you have done or what you will become I will love you for you I will give you the love The love that you never knew
  • Booooo at all that blood.  I know what FA is from a blog I follow.  
    I love that you said the counselor said not to google and you did anyways :-P  Why do they even bother to tell parents not to google!

    I hope it's not FA, but even if it is, Nate is still Nate and you will figure it out.

    Hugs.  (PS Hope you get the blood out!!)
    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


  • How gut wrenching. I pray you guys finally catch a break and the results are negative for FA. Big hugs.
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