TAR Syndrome

Don’t you just want to squish him!

Drew has TAR Syndrome: Thrombocytapenia Absent Radaii.  Thrombocytapenia is a blood disorder characterized by a low level of platelets in the blood.  Platelets are essential for clotting so fewer platelets can result in excessive bleeding.  To learn more about Thrombocytapenia, click here.  Drew has had over 10 transfusions to bring his level of platelets up to a reasonable level for surgeries and for daily safety.  Luckily, this symptom decreases in severity after the first two years so unless we see signs of low platelets (excessive bruising, pinpoint hemorhagges called pateciah, pronounced puh-tea-key-eye) then all is well.  His thrombocytapenia is the least of our worries now.  Although don’t think that I don’t panic if he hits his head or has a spontaneous nose bleed!

The arm bone is connected to the shoulder bone…

Drew’s legs were also affected by TAR.  He was born with legs that were internally rotated below the knee as well as the inability to straighten each leg.  This left him unable to stand or walk.  The picture above of Drew at four years old (below the Title of my blog) illustrates his adapted manvuever I called, “the booty scoot” and this was his primary method of getting around.  But, through a miracle by Dr. Paley, a world-renowned limb lengthening orthopedic surgeon, Drew’s legs were corrected in a series of surgeries (seven so far, as of August 2014) and now Drew is blessed with two straight legs and he walks!

He’s had open heart surgery twice, immediately before turning one year old and summer of 2013 when he was five.  He had a hole in his heart and a constricted aortic valve which were repaired during the surgery.  He also has a significant heart murmer caused by blood that leaks out of his aortic valve.  His hole has been corrected, as well as the narrowing of aortic valve, and had a valve transplant to correct the leakage.

Why did all of this happen?  Because I have what’s called a balanced translocation on two of my chromosomes.  Chromosomes are the little information containers that are the source of all of your traits: hair color, height, skin tone, etc.  A small piece of chromosome 10 and chromosome 17 (their are 23 pairs) broke off and switched places spontaneously at birth.  So, there’s nothing wrong with me since I have all of the information; it’s just in the wrong order.

See: some of my pink is on my blue and some of my blue is on my pink (that unintentionally sounded dirty)

Well, as a fetus is created chromosomes from each parent are taken to create a baby and since my chromosome 10 and 17  is missing information, I run an extremely high risk of having some sort of abnormal result (most likely with chromosome 10 and 17 – bad things, I’ve googled conditions located on these two.)

That’s a only a 30% chance of an unaffected child, but who’s counting?

Ironically, Drew’s chromosome 10 and 17 are completely normal and its theorized that my balanced translocation cause the chromosomes to become “confused” and there was a small deletion in his chromosome 1 (Geneticists have described the chances of this being almost unmeasurable it’s so rare.)  Ain’t life a bitch?  This is not to say that everybody with a Balanced Translocation has a child with TAR.  Results can vary from a baby completely unaffected (with 100% normal number and arrangement of chromosomes) to disorders associated with affected chromosomes with translocated information to totally unrelated arrangements as Drew’s case.

TAR Syndrome is extremely rare: 1:250,000.  To put it in perspective, autism is defined as being rare and its occurrence is 1:25,000.  There are only about 4000 cases of TAR in the world and TAR is even more uncommon in the US.  Why?  I have no idea.