On the 29th of October we received the confirmed diagnosis of Down syndrome for Stephan. Naturally we were devastated at first. Neither of us had ever known anyone with Down syndrome, never known any parents with Children that have Down syndrome. We were already feeling quite isolated in our parenting journey as we don’t have many friends that are at a stage in their life where they are ready for children. So, our circle of friends became quite a bit smaller, and it felt like it would become even smaller now.
We both agreed that we didn’t love our little boy any less than we did before we got the diagnosis. We cherished and accepted him and all we wanted was to bring him home. But since we have never spoken about Down syndrome before, to anyone, we had no idea where to start with gathering information.
And I think this was the biggest problem we were facing; this was the reason for me starting this blog. It was not about stressing about a future, worrying about what comes next, it was that we had no idea what this meant for us and for our child. People were asking us questions that we did not have the answers to. And it felt like that made us terrible parents.
So, if you are a parent, and you have just received this news, or if you are a friend or family member of someone that just received this news, here is the downlow of what it means to be diagnosed with Down syndrome.
The first thing you need to know is that it is completely natural for you to feel defensive about how people refer to your child. Here are a few things to share with friends and family to help them with this journey.
Use People first language:
The most important thing for you to learn and teach others from day one is that we use people first language when talking about Down syndrome. Your newborn is a baby before he/she is anything else. This changed my perspective on the condition almost immediately.
Your child is not a Downs Baby, nor are they a Down syndrome baby. From the moment you started dreaming about your family, you imagined a baby, and honey that is exactly what you got. Before anything else, that precious gift you get to hold at night is just a baby. And just like any other baby, your baby needs to be fed, they need to sleep, and they need to be loved unconditionally.
When you or anyone else refers to your baby, they should refer to him/her by name, or as a baby with Down syndrome, not the other way around. This diagnosis does not determine his/her identity or capabilities.
Please note that people can and will get this wrong, I still do sometimes! They are not trying to attack or purposely hurt you, it is completely natural for you to be a bit defensive about this especially in the beginning. Simply correct them in a calm, loving manner.
It’s all in the name:
Did you know that Down syndrome was not named after someone that had the diagnosis but after the man who first noticed its characteristics. There is no “s” at the end of “Down” therefore we do not refer to our babies as Downs babies. Another way to refer to them is our Baby with DS.
The three types of Down syndrome:
Stephan was diagnosed with Trisomy 21, which is the most common form of Down syndrome. Trisomy 21 means there is an extra copy of chromosome 21 in every cell.
Then there is Mosaicism which occurs when a baby is born with an extra chromosome in only some of their cells, not all of them. They tend to have fewer symptoms than a baby with Trisomy 21.
Lastly there is Translocation where babies only have an extra part of chromosome 21. Of the 46 total chromosomes only one of them will have the extra piece of chromosome 21 attached.
What does this mean for my baby?
Your baby might have some physical characteristics of Down syndrome, some might be more obvious than others and could include:
• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (coloured part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults
If you were not aware of the diagnosis before the birth of your baby, these are the signs your paediatrician might look out for when they suspect a diagnosis of Down syndrome.
In our case Stephan had the flatter bridge of the nose, almond shaped eyes, a palmar crease, and the small pinky fingers that curve towards the thumb.
Other health issues:
Many babies only have some of the above physical features, but others might have larger defects and problems at birth, these include:
• Hearing loss
• Obstructive sleep apnoea, which is a condition where the person’s breathing temporarily stops while asleep
• Ear infections
• Eye diseases
• Heart defects present at birth
Stephan was born with a large ventricular septal defect. In plain English, he was born with 2 holes in his heart, one of 5mm and one of 8mm. The hole (defect) occurs in the wall (septum) that separates the heart’s lower chambers (ventricles) and allows blood to pass from the left to the right side of the heart. The oxygen-rich blood then gets pumped back to the lungs instead of out to the body, causing the heart to work harder.
The most important thing for you and baba at this stage is early intervention. Which brings me to my next question…
How will we afford my baby’s treatment:
I spent the first 4 days out of hospital looking for the best medical aid plan to put Stephan on as soon as possible. It is incredibly overwhelming and it will stress you out to a point where you forget what is really important right now, and that is just spending time with your baby.
I have 4 main tips for this step:
1. Don’t be fooled by unlimited hospital cover, yes this is amazing while your baba is still in NICU, but the fact is once he is out other costs will be your biggest concern, not the in hospital stuff. Your girl/boy will need to see several specialists and therapists years after he has said goodbye to NICU. Be sure to focus on that as well.
2. PMB!! Prescribed minimum Benefit! According to the Medical Schemes Act 131 of 1998 and its Regulations, all medical schemes have to cover the costs related to the diagnosis, treatment and care of:
a. Any life-threatening emergency medical condition
b. A defined set of 270 diagnoses
c. 27 chronic conditions (Chronic Disease List conditions).
This came as a massive relief to us, especially because Stephan had to be transferred to a specialised hospital for his cardiac care. The co-payment of the hospital transfer alone would have been more than R10 000. All of this was wavered because of the PMB. Make sure you register for it, as well as chronic medication benefit.
3. MOST IMPORTANT! Get a broker. They will help you with plan comparisons across all medical aids, and explain the process to you in terms you understand. Furthermore they will handle all claims and disputes going forward. I did not do this until day 12 and it was such a huge help once I could understand what everything meant.
4. Negotiate with your Doctors! This is absolutely allowed, if your Doctor charges 500% for a service and your medical aid only covers 200% you are fully within your right to negotiate with your Doctor to charge the Medical aid rate. Also ask for letters of motivation. When Stephan needed heart surgery his doctors wrote a letter of motivation to the medical aid which covered the procedure and the co-payment for the hospital.
For the first 2 months Stephan was on the same plan as me, Discovery Classic Smart, From January 2021 Stephan will be covered on Discovery under the Classic Comprehensive plan. It is expensive as hell, but what I pay per year won’t cover even a quarter of the price of his heart surgery if I was not on medical aid.
If you need any further information with regards to medical aid, please contact me so I can put you in touch with the broker that helped us, she is understanding and she goes out of her way to assist!