Thursday, July 11, 2013

Worrying About the XY Chromosome

I thought about writing a disclaimer about trying to be honest here, about sharing something pretty personal, but I think I have been upfront about my concerns, worries, fears, and emotions before, so it shouldn't be unexpected that I write something raw here today.

I grew up with a sister. For three years (and one week), I had raised only girls. I know a good deal about girls and the normal stuff to expect with girls. In a lot of ways, I kind of hoped (only slightly so) hoped that Raptor was a girl because I would be able to differentiate between Ds "issues" and what is just normal for a girl being a girl. Before I had Johnny, I knew little about raising boys. I was told by friends that raising a boy is a whole new world. I was told by friends, as they laughed knowingly, that it was a different ball game. Friends with boys would shake their heads, throw up their hands, giggle, and show that gleam in their eye for all the trouble (typical little boy trouble that is) that they had experienced with their sons. I didn't understand that and because I had no experience with it, I would just shake my head along with them, smiling, because that's all you can do when you don't know how to relate to certain experiences like that.

It feels different to hear "little boy" stories now. And I don't mean this in a way against my friends with boys, I don't mean this in a way that I want the stories to stop, I don't mean this in a way that I think there is anything wrong with hearing about what is in store, but now, it hurts a little. And I can only guess that it hurts because I want those little boy stories so much for my son and I am unsure if we will get them.

I hear about friends who tell that their sons, or other little boys that they teach, draw pictures of all the superheroes and how they remember the websites of where to go to look at pictures of the superheroes and can rattle off names of dozens of them. As they shake their heads and say "Boys...", my heart skips a beat. I pray,

  "God, let my son remember names. Let my son remember websites. 
Let my son draw and color and have the memory to hold all of 
that information in, even if it is silly stuff like superheroes, cars, and sports."

I hear about friends who rush their boys to the emergency room or the doctor after falling out of a tree or from skidding on a bike. As they throw up their hands and exclaim, "What else can you do, but let them be a boy",  I pray that their son is ok. Then I silently pray,

"God, let my son stay out of the hospital. However, if it is your will 
that he be in the hospital, please let it be for a broken arm, skinned knees, 
or stitches, and not for cancer, heart issues, or any of the other dozen T21 
related increased issues that could arise as he grows."

I hear about friends who catch their sons hanging from open garage doors, who climb to the top of trees or playsets, and who they have to coax down from the top of lofts, stair railings, or roofs. As they talk about their hearts getting caught in their throats at all of the adventures, my heart gets caught as well. And I choke back tears and pray,

"God, let my son have the strength and muscle tone to climb. 
Help him be sure footed and have good balances. Help my son 
be able to play with other boys his age, to run, climb, 
and wrestle without getting too tired."

A friend loves to tell me to wait until I catch my son "writing" his name in the steam of the shower with his male parts! It was a funny story long before I had Johnny, now when she tells me, I can't help but pray,

"God, please let my son learn his letters. Let him write his 
name in whatever manner it may be. I would very much like it 
if he knew those letters sooner rather than later. Help me 
teach him and stimulate his mind to learn near the 
pace of his peers."

Several friends recount stories of their little boys discovering their male parts for the first time, second time, or numerous times. They tell me that it's different with little boys, that early on they show great attention for those parts, that it is just intrinsic to being male. While I don't think about it in an odd way, I do pray,

"God, help him function. Help all of his body work the way it should. 
Help my son understand that he is different from girls and all of the 
aspects that goes into that. Help him show respect for those differences 
and to be sensitive to those differences."

I work weddings for my mom and I see moms dance with their sons and my heart breaks the most. I fight back tears as I wonder if there will be someone for my son. I pray,

"God, please prepare someone for my son. Please give him 
the ability to provide for and to love someone else. Please 
give him the courage to work hard for and with someone. 
Help him find love and acceptance in someone. Help him 
love and accept that person too." 

Can we guarantee that any of our sons will accomplish all that they want to? Of course not, but sometimes I beg and pray for normal things that most sons will easily accomplish. I simply want that XY chromosome that is just as much a part of every cell of his body as the extra 21st is to shine through. I want his boy chromosome to overcome all of the struggles and roadblocks that the 3rd 21st tries to shove in his way. I want to marvel in all of those incredibly unique boy experiences that other moms get without a second thought. I am so proud to be the mother to a son and I want to shake my head and think to myself, "What a boy...what can you do?" Because I am unsure of what the future holds for his XY, I pray and focus on what we can for now.

It helps that I love my son and every chromosome of his body with every chromosome of mine.


BurleighBro said...

Ashley, I am an American with Disabilities ... the majority of which are genetic (ADHD, Restless Legs Syndrome, hypertensive and tachycardia syndromes, and physically - severe scoliosis that occurs in less than 1:10,000 in the population.)

I too am "specially touched" and I too wish that I was "normal," that I had developed normally. I've pretty much given up in that regard, and just wish that others would understand and accept the facts of life. But they do not choose to do so.

I read all of your posts trying to convey my infinite respect and love for you. I believe that I understand your fears, concerns, fears, concerns and feelings better than 99.9 pct. of those around you, even the population at large.

There is a genetic anomaly found among Cajuns to the same degree it is found in the Ashkenazi Jewish population. It has been traced back to the founder couple in Canada in the late 1600's.

The couple's names were Jacques Guyon and Mathurine Robin. (That nearly gave me a heart attack) I've traced our Robin lineage nearly all the way back to this couple. There are only 268 Robin's in the U.S. Every person of that lineage would be a dormant carrier of the chromosomal anomaly, including you, Jessica, and all of Theresa's progeny.

Even if it has nothing to do with Johnny, it may have implications for whomever your daughters marry. I tried conveying this to Douglas, but it went in one ear and out the other.

In the meantime, I will research it further and see if there is a connection to T21.

I love you deeply. I hear you, and it breaks my heart.

With Love and Understanding,

Ashley Howard said...

I would be very interested to find out more. If you send me more information I can run it past our genetic counselor. She has some great resources for us to use now that we are in her net. Thanks for reading and for your understanding!

BurleighBro said...

Google Cajun genetic diseases. The worst manifestations of the anomaly are Tay-Sachs Disease and Friedreich's Ataxia.

I quickly researched both Tay-Sachs and Down Syndrome, via Wikipedia, and it did not appear that the two were related.

Again, if Therese Robin is a descendant of Mathurine Robin, then all of her progeny are autosomal recessive carriers. If by happenstance, one of your children marries another autosomal recessive carrier, then it is almost a certain likelihood of Tay-Sachs Disease developing among their offspring.

There is no cure, no viable treatment and children generally die before age four. Discarding all other factors and considering Theresa's maiden name and the founder couple's names is enough to warrant extreme caution.

Ashley Howard said...

We had a full chromosomal analysis ran on the baby, Matt, and I when we had our amniocentesis (thank goodness for good insurance). I am pretty sure they would have picked it up as it is related to chromosome 15, but it doesn't hurt to run it by our GC to make sure. It's interesting how much can and can't be predicted by genetics!