Triso-wha???

I don’t spend a lot of time talking about my daughter’s diagnosis, although I guarantee you there isn’t a day “Trisomy 12p” doesn’t enter my mind.  But I’ve gotten a few questions lately, so I thought I’d do some educating on this craziness…plus, I just felt like it 😉  I need to write about her progress soon, she’s up to so much these days – but for now, incase you’re interested, here is a refresher on Trisomy 12p.

What is Teagan’s actual diagnosis?

Trisomy 12p, the mosaic version.

What does that mean?

Trisomy – extra chromosome material
12 – the 12th chromosome
p – the p leg
Mosaic – only some of her cells are affected, not all.

So basically, the p leg of her 12th chromosome is duplicated, and the extra leg is flipped upside-down, in some of her cells.  It looks like this:

Chromosome

That extra little bloop at the top isn’t supposed to be there.  

Good to know if this whole digital marketing thing doesn’t work out, I can probably find work illustrating for the science field.

Did Teagan get this from you or Joel?

No.  While this is genetic, it is not hereditary.  Lots of genetic things are hereditary, and trisomies can be.  But in the case where a error in genetic code is passed down from the mother or father, all cells would be affected – so the child would not have the mosaic version.  Teagan’s trisomy happened sometime after fertilization.  While we knew, since she has the mosaic version, that it was not inherited from Joel or I, we both were tested when we decided we wanted to have another child. As expected, we were both clear.

So how did it happen?

Sometime when the little ball of cells that is now Teagan was developing, an error was made in one of the cells.  This isn’t that unusual, from what I’ve learned; usually these erroneous cells are disposed of naturally by the body.  But this one stuck around and began multiplying like the rest of the cells that make her her.  According to a blood test done by T’s neurologist, the amount of incorrect cells (approximately 72%) indicate that this happened around gestation week 2.  Before I even knew I was pregnant.

Why haven’t I heard of this before?

This condition is SUPER rare.  Think of how many people you know with Down Syndrome, a far more common genetic condition – I’m guessing not very many.  Down Syndrome, which is Trisomy 21, happens in approximately one in every 700 births.  Trisomy 12 happens in approximately one in every 50,000 pregnancies, and most of those pregnancies end in miscarriage.  But my steel-trap uterus decided that that wasn’t going to happen – heck, it didn’t even want to give her up at 42 weeks #cutheroutPLEASE.

(Actually, my doc said it was probably communication gone wrong between baby and my body due to the genetic difference that didn’t put me into labor.  But I prefer to think of my uterus as a steel trap.)

So what does it MEAN?

Global delays.  Teagan is behind developmentally across the board – some areas more than others.  The one that is most noticeable is that she can’t talk like a typically developing 3 year old can.  If you want to read more about the diagnosis, you can check this out http://tinyurl.com/kgyqmmf but it will probably just scare you.  There isn’t a lot of research because it is so rare.  And that’s okay – I don’t want to put any limits on her.  When I first read the Unique report after getting her diagnosis, I was TERRIFIED.  But she walks.  She (kind of) talks.  There is no doubt in my mind that she will be able to go to the bathroom like a big girl in the near future – who knows what she will achieve.

From a health prospective?

Teagan has low muscle tone and epilepsy, which are both common with this diagnosis.  Her seizures were super quick – so quick we didn’t realize what they were for a long time.  We started her on Kepra, which I believe is the most common med for kiddos with seizures – but it didn’t work, and it made her hella cranky.  She’s now on Depakote (Valproic Acid), and we haven’t seen a seizure since June 2013.  Her neurologist said at her last checkup that if we go 6 more months without one, we can look at decreasing or even stopping medication.  That would be awesome – I think it would make her eat more and fall down less, as decreased appetite and dizziness are common side effects of the meds.  And it’s always nice not to have to drug your kid.

How has this changed you?

It’s made me a less carefree person.  It’s made me bitter.  It’s made me question God.  It’s made me scared for the future – what will happen when I can’t take care of her anymore?  What will I do when she comes home from school upset because someone called her that nasty word?  It’s made me realize how little control I have over anything.  It’s made me envious of parents with “normal” lives – not because I’m dissatisfied with my child, but because I know they don’t have the extra work and anxiety that I do.  It’s made me more sensitive.  It’s made me appreciate my husband in ways I’m sure I never would have otherwise.  It’s made me more grateful – for both my children, and for all the progress Teagan has made.  It’s made me more aware of what is important in life; I don’t care how much money I make if my daughter can’t tell me she’s thirsty.

If Teagan could process all of this, what would you want her to know?

That her, her sister and their daddy mean everything to me.  That I’m so incredibly proud of her.  That any frustration I feel at this situation is at the unfairness of it all, and not for a single second at her.  That she is the hardest worker I’ve ever known.  That when I think about how she dances, how she plugs her nose what someone says “stinky,” or how she says “BaByyyye” with incredible enthusiasm, it makes me smile every time.  That there are times I watch her play and am overwhelmed with how much I love her.  And that whatever her path in life ends up being, her father and I will be right beside her, and eventually behind her, every step of the way ❤

“You and me together, can do anything, baby.” – Dave Matthews

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6 responses to “Triso-wha???

  1. Pat Reese

    Kathy, thank you so much for answering questions about Teagan. I can’t begin to tell you how proud we are of you & Joel and the incredible work you’re doing with her. You are all in my thoughts & prayers every day. Love, Auntie P and Uncle T

  2. Maryellyn Krantz

    Kathy, it brought tears to my eyes, I love you all so much.Mom

  3. Well explained – I love the illustration.
    It is normal to feel all those things, but there will be days and weeks along the line when you realize you are the one people should be envious of. You will learn things about yourself – and other people – that will inspire you, make you proud and fill you with love.

  4. Ruslan

    Dear Kathy,

    I’m writing you from snowy Russia (even in early April it’s still snowing). Few days ago our little baby girl Arina was diagnosed trisomy 12p which I understand is a very rare syndrome. Just like her little brother she is 2 months right now. I started searching the internet and luckily found your blog about your beautiful family and your sweet girl Teagan. My wife and I are truly inspired by your dedication and commitment to what you’re doing for Teagan. I know there are a lot of things and challenges ahead of us and I know that we’ll do our best to help our little girl. Unfortunately there is not much information here in Russia how to handle this so any guidance from your side will be highly appreciated. I don’t know your email so I’m leaving this message here hoping that you will reply to it. I would be very grateful if you could reply to me at rvaysov@gmail.com.

    With kind regards and best wishes,
    Ruslan

    • Hi Ruslan – I am so happy to hear from you! We are spending some time with family this week – I will email you once they are gone in a few days and life is back to normal :-). Give that baby girl a snuggle for me!

      • Ruslan

        Kathy, hi. Thanks a lot for replying so quickly! Have a great time with your family! We’ll be waiting for your email then. Arina and her brother send you their hugs and warm regards 🙂

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