‘You need to bring her back to the hospital.’ I couldn’t help but sob. We didn’t realize how sick she was.’: Mom says baby with rare 2q37 Deletion Syndrome is ‘a little world-changer’

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“On Sunday, May 13, our dark-haired, petite girl came into our lives. Ironically, it had just clocked over midnight here in Perth, Australia to our nation’s Mother’s day! She was the perfect little gift at 5 days overdue and our smallest babe at 6 pounds, 9 ounces.

We hadn’t settled on a name yet, as we always liked to see our babies before deciding. She was perfect. There were absolutely no indications our new baby was any different than our other children. Even when the midwife stated she had a ‘sacral dimple’ (a small depression in the skin, located just above the butt), she followed it with, ‘But don’t worry at all, they are quite common.’ We thought absolutely nothing of it. Little did we know it was the beginning of her wild ride.

Courtesy of Steff Holmes

I don’t enjoy self-diagnosing or reading too much into things, but later when I spoke to other professionals, they explained sacral dimples only affect a very small percentage of the population and usually don’t represent anything. However, the minority can indicate spina bifida and can present a possible kidney problem, which we investigated with an ultrasound and MRI before I had even left the hospital after birth. At this point, my husband and I weren’t overly concerned. We hadn’t dealt with anything like this before but were optimistic. When I look back now, we were running on adrenaline and blissful newborn life still.

We sat in the hospital with our other kids and my parents deliberating on what this precious girl’s name ought to be. I distinctly remember Michael, my husband, saying, ‘What about Pearl? Granny loved pearls.’ Our beloved Granny on Mic’s side of the family had passed away 6 weeks earlier and she, strangely enough, was born in June (the pearl is that month’s birthstone). Granny’s name was Margaret, which we later discovered is the origin of the name Pearl. We thought it was a beautiful coincidence and the rest is history. Pearl Lily Holmes, our fourth child, third daughter, and our little world changer.

Sandie Mallon Photography

On the second day of getting used to being a family of six, we were instructed to bring her back to the Perth Children’s Hospital, where she needed a test to see what her urine was doing inside of her body. These were awful. We had no idea where to go or how long the day would be, and I hadn’t thought to pack any snacks. When they had her tiny arm strapped doing her blood samples, I nearly fainted.

These tests confirmed her kidneys were dilated due to urine retention and the MRI showed her spine was tethered. It was a moment I will never forget, being taken in a small specialist room and being told we would need to catheterize our 5-day-old baby. I didn’t even know that was possible. I couldn’t help but sob. We slowly got the hang of things. It wasn’t a choice because Michael had to go back to work a week after Pearl was born. I managed to do them on my own five times a day. We were doing daily catheters. If we didn’t, Pearl wouldn’t empty her bladder and that would be extremely detrimental to her kidneys and lead to constant infections. It was a hard pill to swallow that our seemingly perfect little one had something ‘medically wrong’ with her. More blood tests and scans indicated it could well be a life long issue for her.

Courtesy of Steff Holmes

Just to ensure we weren’t sitting around bored, at 2-months-old, I raced Pearl to our local hospital with breathing difficulties. I was advised to get an ambulance but silly me thought I would get there faster. I rang my neighbor, saying, ‘Can you please go to my house? The kids are alone and I’m with Pearl going to the hospital!’ I later found out five people had gone to my place to make sure everyone was okay. I rang Michael and he met me at the hospital from work. We didn’t realize just how seriously sick she was. She was diagnosed with a respiratory virus, which is something most people shrug off but for a tiny baby, it is super dangerous. She needed tube feeding since her little body was working so hard just to breastfeed. After two nights, the hospital wanted her transferred to the city via ambulance for stronger oxygen. I felt like this wasn’t my life. I had never been to the hospital with a virus for my other kids or been in an ambulance either. It was so surreal. After 4 days, we were cleared to go home. This girl just wanted to make sure we were kept on our toes always!

Courtesy of Steff Holmes

To add to Pearl’s dramas, shortly after getting better from RSV, Pearl was back in the hospital with severe eczema. Not only was this little baby having five catheters in the day, one at bedtime for overnight draining, and a dose of antibiotics daily, she was also having wet wraps for her whole body, steroid cream, a probiotic and I was moisturizing her whole body every time I looked at her. It was chaos. I don’t think I cooked more than twice a week because life was so busy since Pearl’s birth. I certainly felt very lost and questioning myself over everything.

Courtesy of Steff Holmes

At 6 months old, Pearl had spinal surgery to untether her spinal cord. Even though she could move and kick her legs, it was done as a preventative so her movement and strength didn’t deteriorate as she grew up. Her surgery date was by far the most nervous I have ever been. As the anesthesiologist carried her away, I bawled my eyes out, terrified of such a big scary operation for such a small person. We sat and waited for her to be done and when I got the call to come to recovery, seeing her coming-out-of-sedation face is a memory I will never forget — best moment ever! We went back to our room where her dad and I had long cuddles. Being the little trooper she is, we stayed one night and could go home! We were just in awe of her strength throughout it all.

Sandie Mallon Photography

Along the way, there were little signs our girl may have something else going on. She wasn’t meeting milestones but I was quick to label her as behind. ‘For f*** sake, the girl had a bit of a rough start to life and a tethered spinal cord!’ Some other small signs there could be more was her little downward curved ears, a fourth toe that poked up, and even though she was half a year old, she wouldn’t reach out for things much at all or hold them like a typical baby. We started therapies at the hospital. At 8 months old, we were met with the genetics team at the Children’s Hospital who handed me a leaflet with the words ‘2q37 Deletion Syndrome’ written. Her latest blood work showed a missing chromosome and an extra in one of them. She would be delayed in almost all areas of learning and development, hypotonia (low muscle tone) physical facial differences, eczema, asthma, and in more severe cases heart, brain, gastrointestinal problems.

We were shocked to learn this deletion was so very rare, only being noted down at 200 to 250 cases in the entire world to date! Our Pearl was certainly a precious one. Just like the way a Pearl is formed in the ocean due to an obstruction and rough water inside of an oyster, so was she!

Courtesy of Steff Holmes

We left that day feeling a little lighter. Finally, we had an answer for almost everything, and most critically, it wasn’t going to make her sick. On the flip side, however, it was real. It was something that wasn’t going away and we were going to have to try so hard just to give our girl the same advantages as every other neurotypical child.

I remember googling and mulling over this diagnosis, reading everything, and sending screenshots to my best friend almost daily. I studied it over and over sometimes reading way too far into things and forgetting just to focus on the now. Michael and I were tested to see where this gene may have come from but turns out it was completely random.

Courtesy of Steff Holmes

Since we now had a formal diagnosis, it was time to lock in therapies and funding, all of which are organized by a system here called NDIS. We were successful in our application and continue to attend funded physiotherapy, speech therapy, and occupational therapy. Pearl’s journey is her own and is so unique to our other children. We could never have foreseen anything like this. Just like everyone’s motherhood journey, there are good days and not so good days, but being the mother of a child with several difficulties makes you appreciate the many natural milestones of a baby so much more. I think you realize how hard you and your child have worked to achieve such milestones that came so easily to your other children or the children you know around you. The worst is the unknown, not having answers to things like, ‘When will she speak? When will she walk? When will she use a real toilet? Will she always have problematic skin? Will she be able to attend school?’ I try really hard not to let my mind wander or it just gets me upset.

I truly believe she has changed me and our family for the better. She has exposed us to a whole new side of life we never knew about. Would I choose this route for her all over again? I don’t think any mother would choose for their baby to have various diagnoses or constant cause for hospital check-ups. We still count our blessings daily though, for we know just how lucky she really is.

Courtesy of Steff Holmes

We are learning and teaching her basic sign language. At times, it has been like learning how to parent all over again in some ways. I often describe Pearl as our little gem. Because she doesn’t speak, her eyes are the window to her world, and she expresses herself with the absolute funniest faces and the best laugh you will ever hear. It stops people in their tracks and they can’t help but turn to her and smile. Despite every hurdle and every appointment, she always has a squinty grin on her face and her inner beauty shines throughout each day.

Courtesy of Steff Holmes

Being her mom is the hardest yet best time of my life. I have learned so much about inner peace and inner strength. Each challenge shows me just how strong you can really be when your child needs you to be. I have learned to ask for help, how to express my emotions better, and to also stand up for things I feel aren’t right. I never pictured myself here in this position, not being able to go back to work even if I wanted to right now, having to advocate for my 2-year-old.

Amy Maree Photography

In my role at my old job, I always very much admired the parents of the children I worked with, who often would share stories of the battles they were facing with their kids. It made my heart so heavy for them and I used to wonder, ‘How do you do it? How on earth do you face each day and still smile and speak?’ Now I know they had no other choice. They weren’t going to just give up or call it quits. They had to get up and be there, every day for the child who needed them more than anyone. Love for your babies never dies. It doesn’t dwindle when you learn of their challenges and it doesn’t decrease based on their abilities. In fact, you notice the little things more. You recognize small gains some might miss and you celebrate every step forward.”

Courtesy of Steff Holmes

This story was submitted to Love What Matters by Steff Holmes. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

Read more touching stories like this:

‘Is she breathing right now?’ She was limp, almost lifeless. I watched in fear as they loaded my tiny 1-month old baby girl into the ambulance.’: Baby is born with rare chromosomal deletion, ‘We basically won the lottery with her.’

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