Post-Birthday! Oriana's health now..

This week we celebrated Oriana’s birthday! Stefan and I took annual leave to be able to party with her - we took little day trips with Oriana, she asked for cake roughly every 30 minutes, squeezed in some family visits, and was treated to some really thoughtful gifts.

As she enters the next year of her life, and following the diagnosis story that I shared at the start of the week, I thought I should share an update on where Oriana is now and how that relates to her having Down Syndrome. I hope this is informative for you!

• No open heart surgery - This has been huge for us!! We were initially told she would need this before 3months of age, the surgeons just needed her to put on enough weight to be able to safely operate. She took her sweet time putting on any weight though, and remained almost symptomless… and instead, the holes are looking small enough now that they are happy to monitor her and instead consider her for keyhole surgery later (I’m still hoping she doesn’t even need this!).

Is this typical for a person with Down Syndrome? 1 in 100 people will be born with heart defects, however over 50% of people born with DS in the UK will have them. This can be fixed with surgery, medication to manage symptoms, or it can fix over time without any intervention. So yes, Oriana’s situation with her heart is not unusual for a person with Down Syndrome (although such a drastic improvement from such significant holes in her heart is amazing and is specific to Oriana’s story!).

• No thyroid medication - initially we were told that she would be on medicine for life. This was to manage her weight gain, her energy levels, brain development, and the general function of her body. However, she gradually managed to come off the medication, and we just have bloods taken to monitor it for now. It may be that she has to go back on it again at a later point in life, but I am grateful for the time we have had without having to give it every morning, it has definitely made our routine easier.

Is this typical for a person with Down Syndrome? I was really surprised when I was told Oriana had an underactive thyroid, because my family actually has a history of the exact opposite of that - family members have struggled to control their overactive thyroid! However, developing an underactive thyroid is more common in those with DS than the general population. It is more rare to be born with the thyroid being underactive though.

• No longer on high calorie milk - I might explain in another blog post about why Oriana needed to be on this milk, but basically she was not growing/ putting weight on and she had very low energy, which this amazing prescribed baby protein shake fixed! Shortly after her first birthday we started trying to wean her off this and onto normal milk without letting her weight drop too much. She had been introduced to ‘solids’ at 6 months (not very solid in Ori’s case) and so we continued to encourage her to eat as much as possible to get her energy/ calories from this too. It was a gradual transition due to low muscle tone making eating tiring, and sensory issues meaning a lot of foods were out of the question, but we are now at a point where she has three good meals a day with snacks and treats and seems to be growing well.

Is this typical for a person with Down Syndrome? Feeding problems in babies with DS are not uncommon. As above, low muscle tone in the mouth can make sucking hard for newborns, and weaning hard for older babies. Individuals with DS can also have a slightly different shape to their mouth which can make it harder to get off to a good start with feeding. There are many women who were told that their baby with DS would not be able to breastfeed due to this, but that isn’t the case and actually many mums have managed it really successfully. However as we learnt ourselves, it may be harder or need supplementing if you have a baby who tires really quickly from trying so hard/ low calorie milk/ particularly low tone/ heart defects. The high calorie milk is mostly typical for a baby with heart issues (which we know is more common in babies with DS), as their body is having to work so much harder = they tire more quickly, AND need to use more calories. As the heart issues are resolved (with medical help or naturally) there is less need for the high calorie milk.

• Wears a hearing aid - Oriana was diagnosed with moderate hearing loss during her first year, and so we were given a little hearing aid which sits on a headband. We position it against her skull, behind her ear. It bypasses any congestion and fluid that could be blocking her tiny ear canals and resulting in hearing loss. She is still being investigated to see if there is any issue with the actual mechanism inside her ear (some test results suggest there is, but it can be hard to determine with a toddler), but in the meantime her hearing aid has been great for her and her speech is still progressing all the time.

Is this typical for a person with Down Syndrome? Yes! People with DS have smaller passageways behind their face, so it is more common that they will be congested. This can often improve as the individual gets older, as their face and the passageways grow. Hearing loss due to fluid build up in the ear is quite common in our little ones, but quick intervention and the use of Makaton to aid communication means this doesn’t need to be a big problem.

• Had pneumonia less than 1 year ago – we have to be more mindful of her health during cold and flu season due to those small passageways behind the face, meaning breathing is already hard, and congestion is harder to move along and drain, leaving Oriana more susceptible to infections. Infections in those with DS don’t always present themselves typically either, for example Oriana rarely ever registers a high temperature no matter how ill she is, and isn’t able to clearly communicate how ill she feels, so this wasn’t straightforward for us to pick up. She almost always has a cold from Sept- April so a lot of the pneumonia symptoms merged with that.

Is this typical for a person with Down Syndrome? Yes, unfortunately many toddlers with DS struggle more during cold/flu season and a common cold can affect them much more, even turning into an infection. Think of the small passageways behind their face, often smaller airways in relation to the size of their tonsils and adenoids, and higher occurrence of heart defects. It is always wise to be extra careful of taking any children with sniffles around those with DS, as it could be far harder for them to fight off winter respiratory bugs.

• Her height and weight are below average - At 3 years old she is under 11kg, and only just starting to wear 12-18 month clothing, and is a baby size 5 shoe. She is still growing well all things considered (all things = the heart defect, two short parents, thyroid problems etc!) and her growth will be properly monitored as soon as Covid allows us back into the hospital for thyroid bloods and heart scans again!

Is this typical for a person with Down Syndrome? Yes and no. People with Down Syndrome tend to be slightly below average in height, but a lot of Oriana’s peers with DS are bigger built than her. An increase in underactive thyroid issues in the DS community can mean they put weight on more easily too. Doctors use a special height/weight chart for those with DS, which measures them against other children with DS and not typically developing children. So yes, those with DS will often be slightly shorter than average, but may not be as slim as Oriana!

• Oriana says two word sentences, and can count to 10 - Whilst Oriana tries to put a lot more words together, she can easily and clearly put two words together to create meaningful sentences. She counts to 10 (not always without missing or repeating numbers!) and has a really wide vocabulary. Her speech isn’t where some of her typically developing peers of the same age are at, but she is coming on in leaps and bounds all the time. Oriana also uses Makaton (children’s signing - not a full language like BSL/ASL or alternatives that the Deaf Community use) to further aid her communication, and this has been a great tool for us.

Is this typical for a person with Down Syndrome? Yes, children with Down Syndrome usually have good understanding but initially their speech doesn’t always match this. The low muscle tone in the mouth can make this hard, plus hearing problems as discussed above, and sometimes slightly slower general development. If you speak to a person or toddler with DS though, speak to them as you would any other person. Makaton signing is great as it allows communication despite the formation of words not yet being there/ being unclear, and helps with language acquisition as it gives a visual tool. Makaton/ Symbols and Signs have been widely accepted as being helpful for language acquisition for children without any additional needs too!

• She goes to nursery twice a week - At the moment she attends a setting which is specifically for children with additional needs. We chose this type of setting mostly because at the time when she started, she was relying heavily on signing to communicate, and needed a lot more support with her eating. She also has access to some of the health specialists we visit, who can see her in nursery also.

Is this typical for a person with Down Syndrome? Not necessarily. Many of the children I know with DS go to a ‘mainstream’ nursery. This is great for their development as they can learn from their peers, and build on their social skills. We wanted to start Oriana in a mainstream nursery at the start of this academic year (in addition to her specialist setting) but due to Covid guidance it is preferred that children don’t have dual placements where possible… so watch this space! I might write a separate post on nursery settings if people are interested in what may happen differently in a specialist placement in comparison to a typical nursery? Let me know if you are curious about this!

• Her favourite things are singing, reading books, seeing family and friends, and playing at being a mum to her doll - If you watched her Day in the Life video you will have seen her do some of these things (if you haven’t watched the video, go to my first blog post and see what she gets up to!). She is really social and loves to see other people; she wakes up each morning and gives me a list of who she would like me to take her to visit haha! Every car journey is filled with her singing, and she is really accurate with the tune of each song!

Is this typical for a person with Down Syndrome? Each person with Down Syndrome is an individual before they are their diagnosis. All individuals with DS like different things, have different strengths and weaknesses, and have varying hobbies. Oriana’s favourite things are as typical of a child with DS as they are typical of a three year old!

In conclusion, her development is progressing all the time, just not necessarily at the same pace as a typically developing peer. We don't have to go to hospital for reviews and monitoring as much as we did previously, as so far her health is looking so much better - such a blessing! She is the most fun to be around, has a cheeky sense of humour, and couldn’t be more loved by her friends and family. She is such a valuable part of our family. I have included a few birthday pictures below so you can see how she celebrated parts of her birthday week!