Liz Mabie

My husband, Lee, and I were both 27 when we were married. I think neither of us expected to wait so long before finding the perfect partner, but our wishes don’t always line up with God’s will, now does it?? We both knew we wanted kids, and decided not to waste time. After a year of marriage, we consulted a fertility specialist, and one more year later, thanks to a double dose of the fertility drug, Clomid, became pregnant.

The pregnancy itself was unremarkable from a medical standpoint, though as the pregnant mommy-to-be, I found it anything but!

Three days past my due date, my OB-GYN decided to induce because the baby, according to ultrasounds, had not grown in a week. After an “unremarkable” labor and delivery, we were pleasantly surprised that our little girl, who was expected to be in the 7 lb range, was a mere 5 lbs, 10 oz. Bonus for me, I thought!

We named our little treasure London Isabella, and were so proud of her! Other than being pretty teeny for an overdue baby, the only “remarkable” thing was she had no suck reflex. No big deal, as it turns out, and with the hard work over several hours by our night nurse, she figured it out.

When London was 13 days old she ran a high fever. Her pediatrician sent us to the Children’s Hospital of Atlanta at Scottish Rite, where 24 hours later she was diagnosed with a urinary tract infection and grade 4 vesicoureteral reflux, or a reflux in the kidney valves. We were told this was a pretty common occurrence, especially with little girls, so we looked forward to daily antibiotics for the next year to keep infections at bay while she grew big enough to undergo corrective surgery. Well, no one I knew dealt with an emergency like that, so I felt sorry for myself for a bit, then went on with life.

Once month later she again ran a high fever, and was once again hospitalized with yet another UTI. This time, however, her blood work came back pretty scary – her red blood cell counts had tanked. A hematologist was brought in to consult, and upon a physical assessment said we should consider genetic testing. HUH??? When we followed up with our pediatrician, she agreed with us that perhaps he was a little test happy. Sure, London had permanently flexed pinkies, but so does my nephew. Yeah, she had teeny little ears, but they weren’t exactly textbook low-set. And okay, yeah, her big toes were a little funny looking due to their flexed position, but it would be easy enough to bypass sandals, right? As it turns out, her levels balanced back out over the next couple of months, so crisis averted. So we thought.

At London’s 6-month check-up, her pediatrician brought up the genetic testing idea again when upon examination found London to have a bit of tightening in her muscles. She told us it could just be that London has stronger muscles than most babies, but maybe we should do the test, just to know. We agreed, took her to a neurologist to order the chromosomal banding, then figured that was the end of it.

Wrong.

Just after London turned 7 months old, her neurologist called us in to let us know there was, in fact, an abnormal finding in her chromosomes. She had Tetrasomy 18p, a little extra DNA from the short arm of her 18th chromosomes.

We quickly set up a consultation with a genetic specialist, who, as it turns out, had never heard of Tetrasomy 18p. Little did we know at the time, he would be the first of many specialists who’d never heard of this condition. The information he read to us about T18p he’d found on a website (as it turns out, he’d pulled it straight from the Chromosome 18 Registry and Research Society website. But we wouldn’t figure that out for a couple of years).

He told us point-blank that our gorgeous, perfect little London Bella was in for a ton of therapy, intervention and most likely, retardation. I was so out of the loop that I didn’t know “developmentally delayed” was the nice way of saying “mentally retarded.”

So I began to cry right there in his office, grieving all the things I’d wished for, and even expected, and kept on crying for a solid two weeks. I knew, though, that my pity party wasn’t doing any of us a lick of good, so I jumped into the world of early intervention. By 8 months, we had London in physical therapy once per week, and added occupational therapy at 11 months.
We were thrilled when she began crawling at 13 months, though we never could’ve imagined that would be her mode of travel for the next 2 years!

London was retested for the VU reflux after her first birthday, and still had a pretty high degree of the reflux, so we scheduled surgery. She came through like a champ! The doctor was a little concerned about whether or not he was able to completely close the refluxing valves because, as it turns out, London had some irregularities in the shape of her urethras. Seems he is a superstar, because he completely fixed the problem, so for the first time in her life, London was able to stop taking antibiotics!

At about 18 months we added speech therapy. Up to this point, not only had we never met another child with T18p, we’d never met a specialist or therapist who had even heard of it! (As a matter of fact, we still haven’t.)

Once we confirmed London’s reflux issue was all resolved, we decided to try for baby #2, and were pleased to quickly (and without medical intervention) become pregnant with Jack. He was born just past London’s second birthday. It wasn’t easy having 2 babies that couldn’t walk or talk, especially since London was nearing 30 pounds at this point! But we made it work. And Jack was a dream baby from the beginning – no problems with eating, slept 6 hour stretches by the time he was a handful of days old, and had no chromosomal problems whatsoever!

Shortly before London’s 3nd birthday, a good friend of mine decided to see what doors she could open, and since I was still living with my head in the sand, she went online and found the Registry. She connected me with the T18p Syndrome Coordinator at the time, Stephanie Shively, and for the first time ever, I talked to another mom who’d walked in my shoes! She probably thought I was nuts, but I couldn’t get enough information! I wanted to know about everything no one had been able to help me with up to that point. I immediately joined the Registry and began communicating with other Tetrasomy 18p parents.

In the years since, we’ve seen a ton of changes. London will turn 5 in February, and finally learned to walk shortly after she turned 3. While her balance is not good, she’s independently mobile. She also has begun to talk over this past year and gets better everyday. I say she speaks “caveman” fluently, but her English is coming along nicely. She has a whole gaggle of professionals, including about every “ologist” you can imagine. I was afraid when she ever did begin speaking, she’d call me her “mommy-ologist”. Fortunately, I’m just plain “mommy” and hearing it from her mouth still makes me smile.

She had a second surgery a few months after her third birthday, this time to correct her bilateral strabismus (in real-people terms, she had 2 lazy eyes that switched back and forth as if they couldn’t decide which eye would work while the other crossed in). Again, she was a champ and not even 10 minutes after I left her in the doctor’s hands, she was back in my arms with straight eyes!

We’ve had one more medical issue arise over this past year. She began having seizures on Valentine’s Day. Needless to say, the first scared us totally to death! It was brought on by a sudden fever, most likely the result of her 4 year booster shots, but the ER doctor felt certain it would be a one-time thing. He was wrong. She has continued to have small seizures, and her neurologist ordered a 24-hour EEG. That was great fun. The results did show some spiking electrical activity in her brain, so she has been on anti-epilepsy meds for about 6 months now. She does still have seizures despite the meds, but we’ve been assured that’s just how it is. We’re actually trying drug #2 now in hopes it will do a better job controlling the seizures than the first.

London has attended a special needs preschool provided by our county since her 3rd birthday. She goes 4 mornings each week, and knows her shapes, colors, sizes, letters, and numbers. She also recognizes several words when she sees them written. We’ve started talking with her neurologist about trying Ritalin once we get the anti-epilepsy medication figured out. She is a very smart little girl, but has a tough time keeping to task without a lot of assistance. I would like to harness her smarts in a better way before she heads to elementary school, though it’s a bit scary to think of putting her on such major meds at such a young age. Just par for the course now, though…
She receives physical, occupation and speech therapy at school, as well as privately. She has a developmental pediatrician who is blown away by her progress when she sees her every 6 months. She is now very tall – the teeny baby grew into the 90th percentile for height, but has only recently begun to fill out in weight. If you saw her across a crowded room, you’d likely never guess there’s anything any different from any other child (well, you might guess she’s much older than 4 because she’s so tall!) but spend a few minutes with her or see her walk, and you’ll clue in.

When we first received her diagnosis, I kicked myself, thinking the Clomid or antibiotics I took for ongoing sinus infections while I was pregnant caused her situation. But the geneticist set me straight – London is special because she was meant to be special. There is no way of knowing if the unusual cell that caused her tetrasomy condition came from me or my husband, but it was a spontaneous occurrence that had nothing to do with anything I did or didn’t do during my pregnancy.

It would be easy to continue to have a pity party. I still get sad when I see other little girls doing “normal” things and I know London just isn’t there yet. And goodness knows, I’d do about anything to not change another diaper on my 4 year-old! But Lee and I feel special because God picked us for her. All of our friends and family members have “regular” kids without special needs. But for some reason, He felt we could handle our little big girl. And because of God, we can!

So, yeah, I can “hang” with the specialist of specialists, carrying on conversations full of big ten-dollar words and actually know what I’m talking about. And I could practically open my own gym for therapies of all kinds even though my degree is about a million miles away from that! So I guess at the end of the day I’d do better in more Jeopardy categories than I might’ve a handful of years ago. And I absolutely know one thing.

I am blessed.