On Fate

On Fate

Today Ronan had his first acupuncture appointment. J scraped his meridians, touched a small ball to the soles of his feet. She massaged his head, pressed points in his neck and back. He giggled and kicked and smiled at her. She touched his toes. He touched my face with his slightly damp, warm hand. He was chubby and smiling and dressed like a little Frenchman, in a red and white striped onesie (“baby grow” in British; I’ve been dutifully reading my British/English slang dictionary from Other Em) and dark blue pants. Mismatched socks. “What color are your eyes?” J asked him as she moved the acupuncture tool down his fat elbows. “Are they hazel?” They are. A rare color, brown at the center, a dark greenish blue at the edges. A yellow dot in the left one that makes him look strangely tiger-ish, and I say this having never looked into a tiger’s eyes. When he falls asleep in the front pack, his soft mouth open, I can see the edge of that disc of color under his closed eye. His hair has a reddish cast. Red hair is rare. (10% of the population, I think. Rick and I — although we did not know – had a 25% chance of having an affected Tay-Sachs child. Brown eyes are more common than hazel, and yet…). His skin is pale, like mine, his eyelashes long like his father’s.

We know, from DNA analysis, that Ronan has one “common” mutation of the Tay-Sachs gene; the other gene is odd, rare, maybe even brand new (there are hundreds of mutations) and must be sequenced. I imagine the delicate ladder of that DNA branching beneath a scientist’s hands, like a mutant plant that grows quickly, green limbs threading through fingers and wrapping around wrists. I imagine the gene dripping from clean, scientific fingertips like wet string. Somewhere a stranger is unlocking the mystery of my son’s condition under a microscope. Next up: my blood, Rick’s blood. Our parents’ blood.

What we inherit and what we manifest: mysteries.

Or not!

An up-and-coming genetics company will, if you fill out a form, send you a kit in the mail. In this small square cardboard box is a pre-paid “hazardous materials” bag and a requisition form for your doctor to fill out. (Spread the word! The website encourages). The kit is free; the genetic testing costs from $500-$5,000, depending on how thoroughly you’d like to possibly know what may happen to you in the future. The modern form of the crystal ball. Your blood is drawn and your collected blood is sent in its special pre-paid bag to the lab to be analyzed to, as the company promises, “know your odds.”

Know your odds of what? You might ask.

Your blood can tell a scientist the following (but not definitively, don’t quote us! These are odds, remember. You can place bets, but you never really know which horse will cross the finish line first or which card will come up. You’ve been warned!)

Your likelihood to develop:

CANCER

Lynch syndrome

(6 different boxes to check, one for gene sequence analysis)

Juvenile Polyposis Syndrome

(5 boxes)

Familial Adenomatous Polyposis Syndrome

(4 boxes; mutation analysis optional if mutation analysis positive in some cases)

Other Genes and Syndromes (Multiple Endocrine Neoplasia Types 1 and 2, Pancreatic Cancer (There is a Pancreatitis Panel and a Pancreatitis Panel plus, and ominously, Pancreatitis AMPLIFIED), Peutz-Jeghers, Von Hippel Landau disease.

Breast Cancer

Are you worried about your chromosomes? CHROMOSOME STUDIES will check for:

Chromosomal Microarray Analysis (varying kinds)

Or you might opt for:

High Resolution Chromosomes (Rule out Mosaic) and Solid Tissue Chromosomes

Find out your risk for developing/being a carrier for:

Cystic Fibrosis, Congenital Central Hypoventilation Syndrome, and be sure to choose the mutation panel too and have the related Pulmonary Arterial Hypertension test.

There are 7-10 options under each of the following possible tests: Diamond Black Fan Anemia (called DBA in the test, but it sounds like the name of a heavy metal band), Dyskeratosis Congenita (a nice Latin-sounding disease), or Familial Hypercholesterolemia (partial or full gene sequence analysis available here).

GENETICS

The AmbrySCREEN test is commonly used for prenatal and includes some but not all of the tests below:

Alagille AMPLIFIED

Ambry SEQUENCE

ALS

Aminoglycoside-Related Hearing Loss

Angelman Syndrome

Angelman-like Syndrome (not as angelic, apparently)

Angelman/Prader-Willi Syndrome

Ahskenazi Jewish FlexPanel (a trademarked panel, not to be confused with the prosthetic FlexFoot, a favorite of active amputees everywhere) with all 11 conditions

Ashkenazi Jewish FlexPanel that includes Bloom, GSD1a, MSUD, Canavan, MSUD, CF, MLIV, Fam. Dysaut., Niemann-Pick A, Fanconi An.-C, Tay-Sachs, Gaucher.

Beta Thalassemia Plus

Canavan AMPLIFIED

Congenital Hyperinsulinism (two kinds: GLUD1 and KCNJ11)

CHARGE Syndrome (sounds ambitious if a bit boorish and bullying)

Fabry Disease

Gaucher Disease

Glutaric Acidemia Type 1

Glycogen Storage Diesease Type 1a and 1b

Hirschsprung Disease

Hunter Syndrome

Hurler Syndrome

Infantile Spasms

Neonatal Diabetes

Niemann-Pick Disease Types A & B

PKU

Pome Disease

More Prader-Willi/Angelman Syndrome

Smith-Lemli-Opitz Syndrome

Tay-Sachs Plus (versus Minus, I guess)

Transthyreti Amyloidosis

Warfarin Sensitivity (What IS Warfarin?)

Moving on to:

HEREDITARY HEHOMRRHAGIC TELANGIECTASIA

Ambry SEQUENCE (not to be confused with the SCREEN, trademark of course)

HHT Full Gene Sequence

HHT Deletion/Duplication

HHT AMPLIFIED, single gene, and SMAD-4 related

(you can run a Maternal Cell Contamination concurrently with the above tests for an additional charge, of course)

You may not know what it is, but you can find out if lurking within you is the stuff for:

NOONAN/LEOPARD SYNDROME (I first misread this as leotard, which, oddly, made me think of the women in my Saturday Zumba class). There are six Noonan/Leopard related disorders and five ways to test for RETT SYNDROME.

If you’re worried about your future mental prowess, there is NEUROLOGY/INTELLECTUAL DISABILITY

In this category there are several super panels, a test for Fragile X, an Oligo Array Plus Step 3 panel and a Next Gen Super Panel.

You can have a sequence for a particular gene if you know its name and number, or you can name your gene and search for it in a single mutation analysis. Phew!

I had every genetic test that was available and/or recommended to me when I got pregnant. Every single one except Tay-Sachs. That was the one variable I was told I didn’t need to consider.

I am thankful for science, I truly am. I believe in genetic testing. Both have enabled hundreds of couples that carry diseases (known or unknown) to have healthy children. But healthy is relative if you talk to a geneticist or if you spend time, as I have, trying to translate these forms, determine the odds, know your fate. Yes, Ronan is dying, he is terminal, his brain is devastated, he will be vegetative, there is no cure but you know what? He’s also my kid.

What would I have done, what would I have done if I had known? To know or not to know, which is the more merciful, the more humane choice? I wish I knew how to wrap my mind around this question, the possible answers, the implications, the wishing for wishing for wish wish wish wish

Today my son, beautiful and chubby and in full form as his charming baby self, sat on the soft acupuncture table and smiled at me. He drooled on his shirt. He responded, he delighted, he enjoyed. Tay-Sachs will kill him, but it’s not all he is.

No test for that, then.

5 responses to “On Fate

  1. Alma Luz Villanueva

    This is of course heart-breaking…I wonder at how you write this, I don’t know if I could and as you know I’m a poet/writer…but what you also sheerly evoke is WONDER, not only that your baby is dying, the conditions he will succumb to, that you’re the mother of a dying child…no, you evoke the sheer wonder of being his mother NOW, which is all we can do as mothers…and I say this as a mother of four grown children- 50, 48, 44, 30- that they will all die, as I will die, yet I write (also) to remember the ones I’ve loved, who I love now, so that they never, not ever ‘die’…their memory remains in my words, my wonder. This is what you pass on here, Emily, your wonder… There’s a wonderful Mexican song that goes something like this, a mother to her child- “If you sing me, child, I will never ever die.”

  2. A few posts back you mentioned contacting a Norwegian healer via skype who told you that Ronan chose you and Rick because he knew you would be there for him, and you wondered, “across lifetimes?” I’ve been thinking about that ever since. Having studied Buddhism and metaphysics for decades, I wanted to suggest that life is eternal–from the nonphysical dimension you and Rick and Ronan all agreed to come together here in a way that would not be easy, so that you could grow and expand and understand. You will never not know him, you will always be able to communicate with him, and you will travel together in lifetime after lifetime. He is beautiful, a match to your beautiful soul. I pray that a cure be found in time…

  3. Alma Luz Villanueva

    For a more ‘Western look’ at reincarnation, although embraces all views- ‘SAME SOUL, MANY BODIES’…Brian Weiss MD I know I’ve journeyed many times with my children (and others), that we’ve switched roles to learn…but I still write to remember the wonder NOW, the eternal moment now. Emily, you can check out Dr Weiss via his website, as well as his book…he does private consultations. amor, mas milagors (miracles)…

  4. Hi Em, just wanted to reflect that the list of potential conditions is a poetry in a language I do not understand. Short lines, words that roll around your mouth. But each line seems to hold a fear and a pain in it. I like your impulse, rather, to be in the now. Lots of love. o-Em xxx

  5. I continue to be amazed at the way Emily puts words together. You framed the list of scientific mumbojumbo (at least to folks like me) with poetic delicacy and honest assessment of your own life. I always thought (and taught) that reflection was impossible (or at least terribly difficult) unless a writer had emotional distance. Was I ever wrong. Fabulous craftswomanship (sorry, awkward gender inclusive word) as always. Can’t wait to see you in Taos.

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