How was Aimee’s condition explained to you?
We only found out Aimee had Down Syndrome (DS) at her birth. We opted not to do tests during pregnancy because we trusted that if we had a child with complications/special needs – we would still love and care for them to the best of our ability.
Aimee was born in the early morning hours of 23 June 2013 via an emergency C-section. It was a difficult pregnancy and a stressful birthing experience. A couple of hours after being born Aimee was struggling with her breathing and was placed in the incubator. Later that afternoon after not seeing her since my first cuddle in theatre, I got worried and enquired whether she was going to be okay. At this time it was established that she had a heart murmur and needed to be taken to ICU until the Cardiologist could observe her.
I was “freaking out”, because all suspicions of my child’s condition were hush-hush, and I could see the doctor was concerned.
Aimee was placed in my arms for one last goodbye before being transported to Neonatal ICU. When I looked into her little face I was confused because I could see the features of someone with DS but the doctor did not breathe a word about it. I tried to put my heart at ease and got some rest. The very next day my suspicions were confirmed.
How was Aimee’s condition identified?
The doctor noted some signs of DS (saddle-gap between her toes, the shape of her eyes and then the holes in her heart confirmed by the Cardiologist). She briefed us as parents about the condition. She was very comforting in explaining the varying complications our child could or could not face. She told us it would be a journey of discovery, but that there are a lot of supporting circles we could engage.
We immediately got Googling and made contact with the Down Syndrome Society of South Africa (DSSA). There is a ton of resources online and even a very encouraging Blog or two. The DSSA officials were extremely helpful in sending us some basic information to prepare us for the journey ahead.
Tell us about what it is like to live with this condition on a day to day basis.
If it weren’t for my husband’s support I would have found the initial news much harder to bear. His words are still fresh in my heart: ‘Every child has challenges. Aimee’s are just different and we will get through this together and trust God for his guidance.’
It was tough coping with the first year. I am grateful I could step down to work part-time and focus on my responsibilities as a mom. Aimee got sick quite easily in her first year. Amongst other things she had pneumonia back-to-back and tonsillitis too. She was in hospital three times before turning two. She was not picking up any weight as a result. Looking back at photos of her during that time, I realized how sickly she looked.
As a first time mom to her condition I didn’t know what was normal and never took that stage of her health as seriously as I should have. We are thankful that she eventually got her diagnosed with pulmonary hypertension. I was taking her to the Down Syndrome Clinic at Charlotte Maxexe every four months. The doctor noticed the deterioration in her health and urged me to see the Cardiologist as soon as possible. Her Cardiologist soon after performed a catheterization procedure at 14 months where he closed up the patent ductus arteriosus (PDA). Our daughter still has a little hole between the upper two heart chambers. But since the procedure and with the proper medication she has been a different child. We might be in for another op closer to her fourth birthday, but right now we are rejoicing in the fact that Aimee is eating well and growing strong!
What are the challenges?
We have been so blessed in our journey with Aimee. My main concern when we found out that she had DS and I made the decision to stay home and work part-time, was whether or not we could afford all the therapy we knew our daughter would need to fulfill her potential. We have been incredibly surprised how much access she has had to either free or partially government funded sessions.
She has had therapy since she was three months old. She is now 28 months old. She says at least 15 words. Signs too! Crawls all over and climbs up onto everything. She sees a Speech and Occupational Therapist twice a week; a Physio and Music Therapist once. Even though physio was filled with lots of tears for months on end, Aimee is now enjoying every single therapy session and even gets super excited about going!
What do you understand about Aimee’s condition and how it is inherited?
My understanding about DS is that there are three different types. My daughter has the most common type that is not inherited. It happens when the 21st pair of chromosomes fails to split before conception (in either the mothers egg or fathers sperm) and the child ends up with three 21st chromosomes instead of two (a child normally inherits one 21st chromosome from each parent). One of the biggest challenges these children face because of their genetic make-up is low muscle tone. It affects their physical development and speech. It can also affect some of their organ function. It is hard for me to elaborate on all the other challenges they might or might not have because it is a vast list of conditions.
Aimee is still young and we have been advised to take her for regular check-ups with the doctor. She goes for hearing, optical and dental check-ups yearly so if any problems or challenges are detected we can intervene or help her earlier rather than later.
What helps most?
I could not have asked for a greater love and adoration from my family for Aimee. I am thankful for everyone’s support especially in those early days. We all cried and prayed and pressed through together. But as Aimee has grown, I can honestly say it has not been hard for anyone to enjoy Aimee’s joyful little personality and refreshing presence. She is dearly loved and has carved out deep grooves into the hearts of those who know her.
Something that has really been amazing in this journey is the amount of parents I met with children who have DS or other special needs. They have been my strength and peace at times. Seeing and getting to know some of their older kids with DS has given me tremendous hope and so much peace regarding my child’s future.