While there are an estimated 6,000 genetic conditions out there, stories about the families who live with them are often hard to find. This was part of the impetus for writer and editor Jessica Burdg to compile over a dozen poignant profiles in her recent book, More Than a Diagnosis: Stories of Hurdles, Hope, and Possibility from Parents of Children Who Are Differently-Abled. One story included in the book is that of mother of two Kim Lukan, whose son Beau lives with an extremely rare genetic condition called 16q11.2-12.2 microdeletion. Below, Kim shares a snippet of her journey, which she ultimately describes as a marathon.
My son Beau, who turned two on New Year’s Eve, started to pull up to stand last Christmas—a gift you can’t wrap. He loves human interaction and animals. To say hello, he’s fond of grabbing people’s faces and staring into their eyes, smiling sweetly. It’s that sweetness, in fact, that is his hallmark.
Beau is definitely the sweet one in the family, in fact. My daughter (Beau’s older sister, Sutton) is the wild one, so they balance each other out nicely.
Beau is also hearing-aided and nonverbal, and it’s unclear so far as to his level of understanding. There are many unknowns because Beau has an extremely rare genetic condition called 16q11.2-12.2 microdeletion. There are only a handful of other children in the world who have this condition—one that causes kidney disease, hearing loss, low muscle tone, developmental delays, sensory processing issues, and perhaps autism.
When my husband Keith and I finally received Beau’s diagnosis—specifically the genetic condition alongside nephronophthisis (kidney disease that would require a transplant later in life), a heart murmur, and a thin corpus callosum (the bridge between the two halves of the brain) that would cause developmental delays—we were…relieved.
That’s because the doctor’s initially suspected Beau had Rett Syndrome, which they had told us was normally fatal in boys. We spent many long days and nights over the course of the week living with that possible diagnosis that meant mourning the probable loss of our child.
We wondered how we would go home to an empty nursery and tell our daughter her brother isn’t coming home. When they told us he didn’t have Rett’s, we laughed right there in the room. The doctors asked if we were okay, and we said we were just so relieved and thankful. It was the best-case scenario for us. I had been worried I wouldn’t be able to deal with losing Beau and be that strong person for our family, but since we got to keep him, I knew we could deal with whatever life would throw at us.
Life had, indeed, thrown a lot at us in a relatively short time. After a healthy pregnancy and normal genetic testing and ultrasounds, we didn’t expect anything other than a smooth-as-possible hospital birth. The delivery itself was just that: normal. But as soon as Beau was delivered, I noticed he was floppy and would squirm out of my arms when I tried to place him on my chest. He also had a few ear tags and wasn’t crying much. I wasn’t worried, though, because I’d heard the medical team call out his APGAR scores—not perfect, but not terrible, either.
My OB-GYN, whom I trusted and was very comfortable with, lingered in the delivery room a bit longer than usual, watching me try to get Beau to latch.
I remember him [the doctor] saying “Hmm, that’s interesting.” And he was paying extra attention to what I was doing, watching me interact with Beau. He’d also spent a little time with him when he measured and weighed him. At that point, I still didn’t think anything of it.
The doctor and nurses left the room and came back about ten minutes later. I asked if my family would be able to leave that day, something we’d discussed prior and as an option. My doctor replied that normally, yes, he’d let us go home—but not this time, as there was something wrong with Beau.
He just said the transport NICU team from a hospital in Northern Alberta were on their way, and that there were some things they needed to check out. When I asked what, he said Beau’s ear tags, dislocated left hip, low muscle tone, and features consistent with congenital abnormalities—a flat nasal bridge, wide set eyes, lower set ears, cramped and overlapped toes—all together pointed to something they weren’t equipped to deal with.
Keith went with Beau to the hospital in Alberta while I stayed behind to recover. When they tried to feed Beau in the hospital post-transfer, he immediately aspirated, resulting in a NG tube placement. I joined my family as soon as I was released, and together we watched helplessly for weeks as Beau suffered apnea episode after apnea episode, with no clear answers.
Once the cause was pinpointed, we were able to pack up and move from the NICU to a regular floor.
We cried a lot of happy tears then. We could sleep in there with him and bond. And his sister could come more, too. That setup was better for all of us.
After Beau was able to come home, as his mom, I continued the grieving process I’d felt when they first took him to the NICU, the air heavy with unknowns.
I was quiet about Beau, not sharing much with family and friends, because I didn’t want anyone to look at him and judge him. I wanted them to see Beau for Beau, nothing else. But after three or four months, I started sharing more on social media—slowly. First, I talked about his severe hearing loss as a consequence of his genetic condition. I opened up more and more, usually over Instagram, to introduce Beau to the world.
It was hard. At the time, I had a twenty-month-old daughter, my husband was away working long hours in the oil fields, and I had a lot of grief. I still grieve my child’s life, to a degree. I see my friends’ kids born around the same time as Beau, and they’re joining dance or soccer or walking. That’s not my journey with Beau, and I would be lying if I said it didn’t hurt. That said, part of advocating for Beau is knowing that our adventure with him will be different, but just as beautiful. Every tiny thing with Beau is something to celebrate and appreciate.
Today, Beau has spent quite a bit of time in and out of hospitals or therapies. He’s had one hip surgery and spent three months in a full body cast. He has a g-tube for fluids, though he does take 50-75 percent of his daily calories orally—some progress we are happy to celebrate.
Other developments worth celebrating include Beau’s results from Anat Baniel Method (ABM) therapy, a neuroplasticity-based therapy that meets children where they are. Thanks to gracious donations from their community through a GoFundMe campaign, we were able to take Beau to the ABM Center in California when he was one. There, the team worked with him for five days.
The results? Before we left, Beau was 100 percent tube dependent, not crawling or sitting. He was rolling, but only one way. But shortly after we got home, he started sitting up on his own. He ate a whole pouch of baby food, which was astonishing. Sometimes he’s kind of off in Beau-land, but I started to see some things click for him.
Besides ABM for Beau, we’ve also been focusing on intense physiotherapy, occupational therapy, speech—all of it. We’re currently waiting to see if our son will receive an autism or cerebral palsy diagnosis as well, which will help us determine how to move forward therapeutically.
At home, Sutton dotes on her little brother.
Sometimes, she will ask why her brother doesn’t walk or talk, and we tell her he is learning things in his own way and on his own time. And that’s okay because that’s who he is. She’ll bring him toys and is so kind to him. She will be a great advocate for her brother one day. I’m excited that I get to see their special dynamic and watch how they grow together.
We, of course, also dote on Beau.
For my husband, taking care of Beau came naturally. He’s very type A, and what should get done gets done. I’m not so type A, but it also has come naturally to me, to a degree. Prior to Beau, I worked as a disability aide and social worker in my community. It was easy for me to step into that role. Plus, as a mama bear, it’s not even a question. When I was pregnant, I was worried about having kids so close together. But once he was here, just looking at him, I thought “your soul is so perfect for us.” He’s always the one nuzzling into you and cuddling.
Even mama bears, though, need support.
I’ve reached out to the few other parents of children with Beau’s condition—one in the U.K. and two in the U.S.—and there I have found community. Though no two journeys are the same, I know what these families share can provide a glimpse into what to expect. That, and the hard-won understanding of fellow parents of children who are differently-abled.
As a mother in this community, I find it unhelpful and even hurtful when those with neurotypical children say, “I couldn’t do it” or “I’m so sorry.” Instead, it means so much when these parents can simply acknowledge that they don’t understand but listen anyway. That—and treat Beau and family normally and with compassion.
I read something shortly after my son was born that said special needs parenting isn’t a sprint—it’s a marathon. Two years in now, I see what they mean. You have to pace yourself.
My advice to families facing a challenging diagnosis is to go heavy on the grace. If you don’t get everything done in one day—all the cleaning, all the treatments—it’s okay. Sometimes, it’s good to just enjoy your child and not get stuck in caregiver mode.
Being in caregiver mode is a big part of raising a child who is differently-abled, though, and I certainly know that. Beau may need lifelong support. He will always have medical issues, and there are many unknowns around whether he may someday develop benign brain tumors, a potential complication of his genetic condition down the road.
For some reason, I just know that all of this will be worth it, though. In fact, it already is. It’s hard for someone who hasn’t lived it to understand. This isn’t the journey I would have chosen, but now that I’m on it, I feel like my whole life has led up to being Beau’s mom. This is where we’re all meant to be.
You can follow Kim Lukan at @beaus.journey on Instagram.
Beau’s story can also be found in More Than a Diagnosis: Stories of Hurdles, Hope, and Possibility from Parents of Children Who Are Differently-Abled. All proceeds from the book benefit The Brain Possible and Who Is Carter.
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