I know that this is a teaching blog, but from time to time I like to share other things too! After announcing our pregnancy a few months ago, I have been flooded with questions about the process, our journey, our why and what we went through. As we get closer to meeting our sweet girl, I have really reflected on all that we have been through and I decided to write out our story to share. I joke about writing a book about it all, but I really could! I have always been open about our journey, but writing it out to share on the internet is terrifying and emotional. I hope that you will read this with an open heart and mind. I have decided to split this post into three parts, so be sure to read Part Two and Three next. Part One is all about the why.
My family’s history with Adrenoleukodystrophy (ALD for short) began long
before I ever existed or knew anything about. I'll spare you the entire family
tree, but this disease has been in our family for at least four generations.
This sweet little baby would have been my great uncle.
He was the first known
person in our family to die of what we now know to be ALD. He was born in 1925
and inherited the disease from his mother. He died in 1932 at the age of 7. His
mother (my great grandmother) kept such detailed journals about her horribly
sick child that they were later given to the Kennedy Kreiger Institute at Johns
Hopkins University to study as they researched and learned more about this rare
disease. The disease continued to be unknowingly passed on, and in 1991 I was
born and inherited the gene too.
ALD is an X-linked disease, so because I am
a girl (XX) I inherited an X chromosome from my dad which carried the disease. Both of my younger sisters inherited the
affected X as well. Since my brother is
a boy (XY), he only got the Y chromosome from my dad so he does not have the
disease. A few years after I was born, my dad was diagnosed with AMN (the adult onset of
ALD) with cerebral involvement. With his
diagnosis, all of the pieces of the puzzle started to come together. Across the
country, my dad’s cousin Denise was experiencing the disease firsthand with her
family as well. (Their story was documented in an article that won a Pultizer
Prize and can be read HERE.)
Even though I wasn’t aware of my dad’s diagnosis, I knew something
wasn’t right. As a kid, I started to realize that he wasn’t like most other
dads. Physically, it was hard for him to walk. In second grade, my
class was learning about rocks. My dad was a geophysicist so my teacher asked
him to come and talk to the class. I remember helping him the night before get
some rocks ready to give to the kids in my class. I was so excited that he
would be visiting my school. After the presentation ended, my sweet teacher let
me walk Dad out of the classroom. On the way back to the classroom, I
remembered that none of the other kids had ever walked their dads out of the
classroom when they gave presentations or visited. I became instantly
self-conscious and aware of the fact that walking was hard for him and other
people noticed too. It started out as just limping, then he started
to use a walking stick and eventually he was in a wheelchair full-time. I
didn’t really know what was wrong and I didn’t dare ask because I didn’t want
him to be more self-conscious about it.
And I didn’t want him to know that it bothered me too. I just silently
worried.
My mom tells a story of our family visiting the beach when I was
in elementary school. Sand isn’t a great foundation for people who have problems
walking, but my dad was determined to get to the beach. We all watched, holding
our breath, as he struggled on the sand to get to
the beach. “He’s getting better and better every day!” I said trying
to make light of the situation. In reality, it was the total opposite. He was
only getting worse.
In junior high and high school, I noticed that his temperament was
changing too. This time period is the hardest for me to talk about because my
dad did a lot of things that made it clear that he was no longer the same
person. He became obsessed with strange things like collecting aluminum cans
which was humiliating. Neighbors, friends and other kids from school would
report seeing him all over town in his electric wheelchair digging for aluminum
cans in the trash and in alleyways. I grew some tough skin and laughed it off
the best I could. He wasn't in his right mind. Against everyone's wishes, he
even drove to Arizona to hunt for gold. He really believed that he was going to
strike it rich. During the trip, he fell out of his wheelchair and literally
burned on the pavement before someone finally found him. It was an absolutely
awful time, and it makes me almost physically sick to talk about.
It also dawned on me
that my dad wouldn’t be around forever. I could tell that he was getting worse,
but no one wanted to talk about it. Not only was his physical health declining,
but so was his mind. I decided that if I wanted him to be around for any of my
adult life, including my wedding or me having kids, I would have to hurry. I
became really interested in weddings and felt like maybe if I could have it all
planned out, then I could meet the right person and my dad would be able to be
a part of it. I literally have memories of telling people that I wanted to get
married really young so my dad could be there. Praise the Lord that my sweet
husband Tyler entered the picture the summer before my junior year of high
school. He is the best thing that ever happened to me and has shown me unconditional
love since 2007. I couldn't have gotten through any of this without him.
Even though he really only knew my dad during the time he was the sickest, it
brings me a lot of comfort knowing that he knew him. He also got to see firsthand how
horrible this disease was.
The summer before my senior year of high school my dad was out in
his wheelchair when he was hit by a car. He would never come home again. He
spent the next nine months in and out of ICU, rehab facilities, and
long-term hospital care. My senior year was spent visiting the hospital almost
daily after school and trying to keep it all together.
As a senior, I didn’t
have a first period class so I decided to volunteer at the Early Childhood
Center associated with the school district. It changed my life and gave me so
much purpose during such a hard time. I was already destined to be a teacher,
but this experience really sealed the deal. Spending an hour of my morning
singing songs, playing games and loving on four-year-olds from tough situations
was so healing for me. I made a plan to study Early Childhood Education, but I
had to figure out where. It was really hard for me to think about going off to
college and leaving my family behind at a time I was really needed. I chose to
go to Texas Tech University because it would be close by (2 hours from home) so
I could come home and help on the weekends. But that April my dad took a turn
for the worse. On the day Hospice was coming to evaluate him, he died. I knew
it was coming. The night before, I was up and unexplainably sick to my stomach.
I just laid on the cold tile floor of the bathroom and knew something bad was going
to happen. The phone rang early in the morning and I thought it was the
hospital calling to tell us that he had died. Instead, it was Dad calling from
the hospital to tell us that he was thirsty and needed water...another sign of near
death. I was at a senior graduation party for lunch that day and
when I returned to school I heard the overhead announcement ding. I knew that
they were going to call me down to the office and my mom would be there to tell
me that Dad had died. I was right. I spoke at his funeral a few days later,
which I still consider one of my greatest accomplishments. It’s not easy to
give a speech at your dad’s funeral ever, especially when you’re 18. It
was so important to me for people to remember who he really was and not the
disease. I wanted to share stories about the happy times and how much he loved
us. He was so kind, caring, compassionate and brilliant. I was not going to let
people remember him at his worst.
2009 was probably the
toughest year of my entire life. I had grown up and experienced so much grief
over the past few years and then suddenly I went off to college. There, everyone was carefree, spending their
parents’ money and wanting to drink and party at every opportunity. It was a
really hard transition, especially because I knew that this disease would
continue to haunt me. Even though my dad's suffering had ended, I would have my
own struggles as a carrier of this horrible disease. Thank God I had someone by my side who could handle it.
Believe it or not, my
dad and I never had a conversation about ALD before he died. Not once. He
didn’t want anyone knowing about it, especially his children. In his eyes, he
was protecting us by not sharing the diagnosis and talking about it. I don’t
think anyone, especially him, realized how sick he would get and how quickly.
How do you prepare your four young children to watch you lose your mobility,
body and life?
In 2012 I graduated college from Texas Tech and landed my first teaching
job in my hometown at the elementary school I attended growing up. I would be
teaching Kindergarten, a dream come true! In 2013 Tyler and I got engaged and
then married in 2014.
Shortly after getting married, we met with a genetic counselor to
really understand our situation. As a carrier of an X-linked disease, there is a 50/50 chance of
passing it on to my children. So there is a 50% chance that any child Tyler and
I have will have this fatal and incurable disease, which is a REALLY high
percentage in the genetic world. We were basically given three options:
1. Don't have our own children and either look at using donor eggs
or adopt.
2. Try to get pregnant naturally and then test for the disease
around 10 weeks and decide what to do then...
3. IVF with PGD/PGS
