“June 24 is Rare Chromosome Disorder Awareness Day. I have written this blog to help raise awareness of these disorders and to give some insight into life as a parent of a child with an extremely rare chromosome disorder”- Caroline Noulton- Spa House Tasmania Owner and Manager
This story started during my pregnancy with Maya in 2016/17.
Anyone who has been pregnant can probably identify with that sigh of relief when you have a scan and the sonographer says to you “everything looks fine”. During my first pregnancy with my son, I took that moment for granted. He was a big, healthy, active boy and there was never any real doubt about these things.
Scans where the sonographer seems to be looking a little bit closer and a little bit longer at the baby, where they don’t say anything much or make eye contact with you, where there are no reassurances offered that everything is ok, when they start asking you about your medical history and any pregnancy symptoms, these are the scans of nightmares. The scans that nobody wants to experience. When they say, “I just need to go and get the radiologist to come and have a look”, or “I think we will need to book you into the high risk clinic in Hobart for further investigation”, your whole body freezes. That sigh of relief never happens. Your brain starts going into overdrive, wondering “what if?”.
Pregnancy is an amazing, miraculous experience, but it can also be extremely traumatic when things are not all going along smoothly. This is the part of pregnancy that we don’t talk about so much. When we think of pregnancy, an image of a beautiful, strong woman, glowing as she grows and carries this tiny human in her body often springs to mind.
I can tell you, I felt anything but strong and glowing. I was exhausted before I even had our baby. I had gestational diabetes, requiring insulin, scans every second day (not the exciting kind, the stressful kind I mentioned above), I had hyperemesis gravidarum requiring hospital treatment for dehydration. I spent long hours dry retching or hanging over the toilet bowl.
Birth was much the same. The usual nerves, but with the added worry of needing to have the paediatric team on stand-by, just in case the baby needed support after birth. The baby, a little girl who we later named Maya, did need that support as it turns out. She quickly turned purple as she was laid into my arms and had to be whisked off to receive medical treatment. I didn’t see her for hours.
This was the only the beginning of our worries. Maya was diagnosed with a heart condition before we were discharged from hospital after her birth. No sooner were we home, before we were taking her back to the hospital to see a cardiac specialist. Her heart problem was diagnosed and due to it being so rare in babies, we were referred for genetic testing.
Several months later, I was at the nursery on a Sunday afternoon. My phone rang and it was a genetic specialist from Melbourne, phoning to tell me that Maya’s tests had revealed a chromosomal abnormality called 19p13.12. That meant as much to me then as it probably does to you now. I had absolutely no idea what it meant. The geneticist went on to explain that it extremely rare and that because of this, there is little information about what to expect for Maya. He advised me not to google it, as I would likely stumble upon worst case scenarios which would terrify me but may never be a part of Maya’s condition.
The next few months were a blur of appointments and sleep deprivation. Maya couldn’t lie flat, so Andrew and I slept in shifts in an armchair with her, helping to hold her tiny body upright. During the day, I wore her on my body all day. Evenings were spent pacing around the house as she cried for hours on end. Oh, and we did have another child to care for too! School and sports commitments and trying to balance the high needs of Maya with our boy who was well used to being an only child.
I was diagnosed with post-natal depression about 5 months after Maya was born. I had come to feel like her medical professional rather than her mother. I was desperately trying to seek information to help us to support her and observing her for symptoms that might give us some clue as to what to expect in the future. It wasn’t until we enrolled Maya in the Early Childhood Intervention Service (ECIS) that I could finally let go of the reigns a bit. I was finally able to trust that these experienced professionals would help identify and manage Maya’s developmental needs, while I was finally free to just be her mumma- to love her, to cuddle her, to play with her and delight in her.
We are fortunate that we have had this network around us. The saying that “it takes a village to raise a child” is even more true when it comes to parenting a child with special needs. The amazing ECIS staff (special mention to Annette), Maya’s therapists (music therapist, occupational therapist, physiotherapist, speech therapist, dieticians), Maya’s medical team (GP, paediatrician, geneticist, cardiologist and others), and our dear friends and family who have supported us as well as grown to love Maya (special mention to Jayne, Jen/ Chloe, Dave/ Emily and Sarah B who love Maya and have helped us out over the years with her- it means so much to us), Maya’s child care educators at Elanora who have supported her and helped her feel like she belongs….the list goes on.
So, what’s life with Maya really like? Maya is 4 now. She is around 1-2 years behind developmentally. She speaks lots of words and signs as well. She’s growing in confidence every day. She is making social connections and forming her own relationships with people outside of her family, which fills our hearts with joy. She is affectionate, funny, playful and determined. But she is also. Bloody. Hard. Work.
While the social media pictures and the Maya you see in public can look like a smiley little angel, she can be quite a different child for us at home. Her brother loves her, but she drives him crazy most days too. She copies him, hits him, follows him around, and wants everything he has. We love that she’s talking more, but we wish she’d give it a rest occasionally and that maybe she’d turn the volume down several notches! It would also be nice if we could occasionally have conversations without Maya yelling over the top of us to get our attention. She’s clingy and very needy. She barely plays by herself and is usually only content when she has one on one attention.
She’s determined, head strong and independent which is all great until you lock horns with her….and we do, many times per day. This can result in quite spectacular tantrums and occasionally meltdowns too (though we’re getting better at avoiding these now). She’s a mess-making machine. You only need to take your eyes off her for a few minutes and she can empty containers of food onto the floor, spill drinks, tip her toys out everywhere, draw on the furniture or paint on the walls. My son did this stuff too but nowhere near to the same extent as Maya. She’s a sensory seeker- so she rarely sits still or stays quiet. She likes to bang things loudly, play with her vocal sounds and needs lots of physical sensory input- but not too much either. It is a balancing act that we don’t always get right. We are usually exhausted by the time she hits bed at around 6:30pm.
The hardest thing, like anything, is wondering about the future. The parts you can’t know so you try to put the pieces together in your head. Will she go to mainstream school? Will she be OK? Will she be bullied for being different? Are there any underlying health conditions that we don’t know about yet? Will her heart get worse and will she need medication and surgery? Will she live independently, or will she live with us forever? Will she work, have a career? Will she fall in love or be loved?
Nothing is ever certain in any life, but when you are parenting a child with a rare chromosome disorder, the future seems even less certain. So many normal milestones have been missed or delayed, and many more will be in the future. Parenting Maya has helped me to learn to embrace the present more, and not to get too focussed on the future- a healthy lesson that is valuable across all areas of life.
In fact, parenting Maya has taught me more about life and about myself than anything. I used to feel such empathy for parents of children with disabilities, and naively felt extremely sad for them too. But I now know that while having a child with a disability is incredibly challenging, it can also be incredibly rewarding. Also, life goes on. You get on with it and you cope with it far better than you ever imagined. There are hard days, but then there are the absolutely wonderful moments that are woven through each day of being Maya’s parent. Sometimes I nearly cry with joy about the milestones that most parents would barely bat an eyelid over. Maya can’t understand why I get so overwhelmingly happy and excited when she goes to the toilet! And the first time she said “ball”, Andrew, Iluka and I made so much fuss that she wouldn’t say it again for ages!
There are some things about Maya that make her simply awesome. I often joke that she isn’t the one with the disorder- that it was the rest of us who were born with something wrong with us! I prefer Maya’s joyous company to joyless people who find everything in the world to complain about and people who spend their life criticising others. I adore Maya’s appreciation of simple things much more than people who are materialistic and greedy, valuing money, fancy cars and brand names over all else. Maya sees everybody as a friend- not a competitor, she doesn’t judge people, she doesn’t care if you are in your pj’s or looking like you are about to walk a red carpet. Maya has reminded me of my values and of what is truly important in life.
If there is one thing that I wish for the world on this day, Rare Chromosome Awareness Day 2021, it is that the world can learn to embrace diversity. To look at people for the value they bring to the world, rather than judging them for what they aren’t. This goes for all people, whether it be people from difference races, genders, sexual orientations, or abilities. The world would be a far less scary place for parents like myself if I knew the whole world would wrap my girl up in their arms and their hearts, the way that we do as her family.
Thank you for reading, and I hope that you have learned a little about what it means to have a family member with a rare chromosome disorder. For more information on rare chromosome disorders you can visit www.rarechromo.org