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August A-T Awareness Month - Liam's Story

Normally, I would write a missive in which I share all the boring deets of our every day lives with you, my friends & family, and possibly the complete strangers who might, although I doubt it, read this plain old boring family blog, publicly.  But this month is a special month.  The entire month of August is our chance to raise awareness for a rare disease that affects my family daily.  So here is Liam's story.



Liam was born a perfectly healthy 6lb 13 oz baby in May of 2001.  Both of his Apgar scores were 10s.  He came out angry.  But he had the cord wrapped around his neck twice & had to be suctioned out.  Once they got the cord off his neck, which was almost instantly, he let us know in no uncertain terms he was furious at how he came into this world.  Other than initial anger, he was a very happy, easy going baby.  He rolled, crawled, sat, grew teeth, & laughed at all the appropriate times.  His benchmarks were exactly where they were supposed to be until he hit 2.  Then we noticed he had never become a stable walker.  His gait was like watching Captain Jack Sparrow sway around after too much rum, we called him our little drunken pirate.  And he still wasn't doing much talking, mostly grunting and then getting frustrated with us for not understanding his needs as efficiently as he would like.  I talked to 2 different pediatricians who both said, he was fine, he'd talk & walk better in good time.  By 2 1/2 I was on pediatrician number 3.  Finally, someone who listened.  She saw him swaying on the exam table while seated & remarked on it & I said you should see him walk.

So she asked to see him walk.  He ran quite well, but controlling his legs & feet in a simple slow walk was a lot harder for him, and he still wasn't talking.  She agreed, in a serious tone, that this was not normal for a child of his age.  Especially with an older sibling who was talking in 4 & 5-word sentences by 18 months of age.  Big brother Kier was always loquacious.   So we were sent to our first pediatric neurologist.  Who spent 5 minutes with Liam and proclaimed him "normal" if a little ataxic.  Something he would either outgrow or with which he would learn to compensate.  His general pediatrician recommended we contact AZEip.  Through AZEip, Liam was able to receive speech therapy at home twice a week.  It made a huge difference in his ability to communicate.  We learned some basic ASL to help us through the process as well.  By 3 he was talking, it was very quiet, slurred, slow, & hard to understand but he was finally talking.

Around this time, back when I had Yahoo mail for my email needs, I noticed a link on the side of my MyYahoo page to Ataxia Telangiectasia.  And I thought, Liam has Ataxia, I wonder if the two things are related?  So I followed the link.  It took me to the A-T Children's Project website, & right to the diagnostic page.  As I sat there for the next hour, reading check mark after check mark for diagnosing a child with A-T, I knew this was the disease Liam had.  He checked off too many marks.  Far too many marks to ignore the site.  And then I read the prognosis...lifespan of late teens to the early twenties.  Liam was 3 1/2 years old and already he had a premature expiration date.

I completely deflated in the desk chair.  I just sat there for what felt like forever staring at that sentence.  Those words; lifespan of late teens to early twenties.  How could this be possible?!?!  My sweet tempered, smiley, little blond boy wasn't going to get a nice long life???  I sobbed & sobbed & sobbed.  I turned off the computer, turned on the computer, went back to the page, repeatedly.  Trying to wrap my mind around what I had read.  Trying to digest what this meant for my child.  I couldn't believe it.  I wouldn't believe it.  I denied it!  For 6 months, I visited the site daily.  And daily turned it off in anger & denial.  This was not & would not happen to my baby,  I told no one.  Not CA, not my friends, not my family, certainly not the Drs.  No one could know because this was not happening.  I was fairly certain if I told CA any of this he would think me a hypochondriac.

Then it was time for his 4 years check up.  By this point I had also given birth to his little sister & 3 kids makes me a lot more knowledgeable to the Drs.  They tend to not laugh at me when I say my kid is sick or that I think it's an ear infection.  I have some experience under my belt & I have never been an overly worried parent for every little bump, scrape, or cold that has come our way.  She looked at me after his initial exam & said, "He looks beautiful.  He's come a long way in speech & you obviously know what you're doing.  Is there anything you have questions or concerns about?"  For what felt like a millennia I sat there wondering if I should tell her what I had learned or if I should just keep my mouth shut?  About 15 seconds later I hemmed & hawed that there might be this one thing that possibly we should consider investigating further.  She stopped, looked me seriously in the eye & said, "Tell me everything."

Afterward, she sat there for a few seconds herself.  She looked at Liam & at me, holding baby sister & big brother sitting next to me & said, "Okay."  Then she gave me another pediatric neurologist's information at Phoenix Children's Hospital & ordered Liam's first blood draw.  A simple blood test to check the levels of AFP or Alph-Fetoprotein.  Usually, it is performed on pregnant women to determine different diseases of the child in utero.  On a child over the age of 3, higher levels are one of the primary ways Drs diagnose A-T.  While we made the appointment to see the neurologist at Children's, this was mid May btw, we received the first confirmation.  His AFP levels were much higher than they should be for a 4 year old child.  His appt for neuro was scheduled but the soonest they could get us in was late August.  So we spent the summer agonizing the first blood test, hoping it was a mistake or that his levels would go down & for our chance to talk to a neurologist with experience.

Late August arrived, we, both CA & myself this time, along with Liam, went to this appointment.  Dr. Deering was wonderful.  He spent about an hour with us.  Answering questions, talking to & interacting with Liam, getting his history, & really observing him.  Then he said, "I'm going to order the AFP again, as well as some other tests, including an MRI.  That first test could be wrong.  It could be a fluke, a mistake, or it could have decreased the levels since then. But I am going to level with you,' and he looked me in the eye, 'mom's diagnosis in right about 90% of the time.  Because you are the one who spends the most time with him.  You know him inside & out better than anyone. So you need to prepare yourselves. There is a good chance that Liam has A-T."  With that, the nurses came in, drew more blood, this time twice as much for the other tests that would be helping in the diagnoses.  We scheduled the MRI for a week later.

Friday, the day before Labor Day weekend 2005, less than a week after the MRI, about 10 days after the initial appointment w Dr. Deering, he called the house himself.  He said, normally he would have us come back into the office, but it was a long weekend, and he was going to be off all the following week & he didn't want to put us through the agony of waiting for test results any longer than we needed to and since the results were now available he wanted to tell us asap.  "I'm so sorry to tell you this but the MRI shows the most minute signs of cell degradation in Liam's cerebellum & his AFP levels were three times higher than they were 3 months ago.  Liam has Ataxia Telangiectasia."  We cried.  CA picked himself up, shut himself off & went back to parenting the kids, while I shut down in our darkened room for a long weekend of sobbing, pleading with God, and giving up.  The grieving process had officially begun.  It would take more than a year to get to the acceptance stage.

Meanwhile, we closed off to pretty much everyone in our lives.  Close family & friends would go without our presence in their lives for quite a long while.  Family & friends that couldn't handle it or couldn't support us either walked away from us or we asked them to leave our lives.  We were in the triage mode of a long battle.  We learned quickly the real people in our lives who love us & support us from beginning to end without judgment, without hesitation, without thought for themselves.  Those who didn't try to make this about themselves.  We walked away from the people who thrive on drama.  The fake kind.  The kind who seem to thrive on misery or ugliness or attention, even bad attention.  We prioritized the truly important things in life.  We fought with each other, we turned away from each other.  There were times I didn't think our marriage was going to be to handle the anger in the house.  Yes, the quiet, passive aggressive anger at each other, at life, at God.  We each went through our own, what I like to call, 'come to Jesus' moments.  But we made it, by the skin of our teeth, we made it.

That summer, CA & I, had both been praying about having more kids. This disease is genetic after all.  We are each a carrier of one normal & one abnormal chromosome, meaning we had a 1 in 4 chance of having a kid with both abnormal chromosomes, in short, an A-T kid.   And it had never been easy for us to have kids, lots of miscarriages, & lots of trying.  Through a lot of prayer & fasting, we got our answer, we both felt very strongly, "we were not supposed to try having any more kids". That October, while just beginning our journey through our despair, I realized I hadn't had a period since August, right at the same time we received our answers to the prayer should or will we have more kids?   One late night run to the grocery store later & the plus sign on the stick confirmed my feeling.  I was about 12 weeks pregnant.  It wasn't stress that had stopped my period.  It was pregnancy.  Now I was going to deal with a horrible question, 'did I do it again?', for the next 6 months.  Along with grieving over diagnosis, I got to deal with guilt of having another child.  But when the ob/gyn asked if I wanted amnio I said, no.  It wasn't going to change my decision to have the baby.  While I am pro choice for others, for me (and for CA) there is no other choice.  I could never abort an innocent baby.  And since I  have a high rate of miscarriage already I didn't want to run the risk of causing a miscarriage with a test that wasn't going to change our minds.

Nolan joined our family on July 5th, 2006.  No, he doesn't have A-T.  He has ADHD but not A-T.  He was the perfect bookend for our family.  I had dreamed of having a huge family when I was younger, it wasn't meant to be.  Now there are some who would (& have) pointed out that 4 is large, but when you are the youngest of 7 & your husband is the oldest of 10, 4 is nothing.  I wanted the joy of babies running through my house for a long time.  I will have to wait for grandbabies.  I'm 42 now & while I love the idea of having more kids, unless I could guarantee a few things, it wouldn't be a good idea.  I have a bad back, chronic fatigue syndrome, & fibro myalgia.  Chronic pain & inflammation are my constant companions.  Do I resent where life has taken me?  Yes, sometimes I do.  Probably more than I should but not as often as you might think I do.

Liam is 16 years old now.  There have been a lot of ups and downs.  His health is tenuous.  Always dependant on what happens with the next sickness.  He has A-T, Primary Immunodeficiency Disease, Reactive Airway Disease, & a G tube to keep him fed as he doesn't have the strength to eat enough on his own to keep him going, he weighs a whopping 95.6 lbs.  He has multiple specialists he sees throughout the year at Children's Hospital in Milwaukee, and we love them.  He is going into his junior year of high school.  He is in a contained special needs class but he also takes some regular classes as well.  With a pass fail IEP, his grades do not matter, because if Liam lives to see 20, it will be a huge achievement.  We have had to make choices that compare the quality of life in contrast to the quantity of life.  Decisions, no parent of a 16-year-old should have to make.  We make them on a regular basis.  But he is happy, well adjusted, (as well adjusted as a teenage boy can be anyway), has lots of friends, and his health for the last year is the best it has been in 5 years.  I thank God every day for the blessings he has given me.  Sometimes I even thank him for the trials.  Not often though.  I don't need any more trials for right now.

That is Liam's story, the beginning of our journey with A-T.  Because A-T is a rare disease, there is very little research being done by big pharma.  There is no money in such a rare disease.  Most of the money raised to find a cure or to treat each symptom as it appears comes from grass roots campaigning from A-T families like ours.  When I beg for awareness or for a donation to the A-T Children's Project I am doing just a small part of the asking for help.  We are few, we are spread around the world.  Some of us are completely isolated from fellow A-T families, except for the beauty of the internet.  We are dependant upon getting the word out & getting people to donate their time, their energy, their money to our fundraisers.  If you are on Facebook, you can join the A-T Volunteer Squad & find out about any and all fundraisers, specifically for A-T, in your area & then you can help or donate.  Get to know an A-T family.  See us.  Love us.  Help us.  Our kids need your charity.  They need your funds to find a cure & give them an actual chance to live.

For my fellow A-T family members, I imagine our story is similar to yours.  I would love to hear your story too.  Post your story in the comments on this post so other can hear your story too.  And then share the story on Facebook.  Your story could help spread the importance of a cure.  But only if you're comfortable talking about it, in a public forum.

Sending my love & pleas for help out to the interwebs today.
Much love,
Jess

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