Thalassaemia

Before I met the obgyn who took care of me when I was pregnant with Sophia, Christine Yap, all medical practitioners in Singapore whom I spoke to about thalassaemia had very (to my mind) non-progressive views. Their advice to my husband (then fiance) and I ranged from “don’t get married” to “just do amniocentesis to test for thalassaemia”. However, nobody told me about ways that are, to my mind, much better options. I had to research about them and make appointments with a few obgyns to talk through them before I found Christine, who was completely on the same page as me. So today’s post is going to be a rather dry but hopefully informative one.

First, some background. Thalassaemia is basically a genetic disease. As you may know, genes work in pairs. Thalassaemia minor means that one of the gene is the “defective” gene and the other is normal (to put it simply). The fetus will take one gene each from each parent and that forms the fetus’ pair. Probably theory tells us that there is therefore a 25% chance of the fetus being perfectly healthy with a pair of “normal” genes, 50% chance of having one “defective” and one “normal” gene and 25% chance of the fetus having both defective genes. When a person is born with both defective genes, that person has thalassaemia major and is destined to live a short and miserable life. Hence the aim is to prevent that. How then?

Safest choice would be to do pre-implantation testing. Essentially this involves going through an IVF procedure with the fertilised egg being tested to be normal before being implanted. However, this very clinical method of making babies is unappealing to many parents, ourselves included, for obvious reasons.

The next best choice then is, to me, transabdominal chorionic villus sampling (CVS). Essentially the obgyn pokes a needle through the mum’s abdomen to extract a single villi from the mum’s placenta and sends that for genetic testing. Previously it was thought that this method carries a higher risk of miscarriage and fetal deformity. However, more recent research reveals that this is only true if CVS is conducted before 9 weeks of gestation. If it were conducted past 11 weeks, the difference in safety compared to amniocentesis is almost negligible. However, CVS’s very significant advantage is that CVS can be performed at 10-12 weeks wherease amniocentesis can only be safely performed at 16 – 20 weeks. That means with CVS you would know at least 4 full weeks earlier, when abortion is still safe and much less traumatising.

So for the thalassaemia carriers out there (and there are many in asia), I hope this teaser encourages you to find out more about what can be done and not take the word of healthcare professionals at face value. They are only human and have their biases which may or may not be objectively the most correct view.

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Breast is indeed best and hospital review

Sophia is sick yet again! Just one week after she recovers from the last bout of sickness.

Just to give a bit of background, I fully breastfed (ie no formula no other milk but yes solids from 6 months) Sophia for a bit more than 1 year then slowly weaned her off to full cream cow’s milk over the next 2 months. For the first 14 months of her life she only caught the flu once and that was when she was just 6 weeks old and a terrible strain that the whole family also caught. Other than that she was spared even when some of the family are sick. However, very soon after coming off breastmilk completely she caught a cold. After she fully recovered she went for her mmr jab and was well for a week then developed a high fever complete with runny nose and cough.

Of course, the spike in temperature has to come on a sunday when all the clinics that are halfway decent are closed. So we brought her to KK’s A&E department.

Upon entering the A&E department, the first thought was “wow, its quite empty, great, the wait won’t be long.” We took a queue number from this unconspicuous box that was horizontal from the entrance so its not really in our line of sight.

Queue ticket here

While waiting Sophia was actually still quite the happy camper.

Happy Sophia at the waiting area

After a short wait our number was shown on one of the triage doors.

Triage

We were attended to by a Filipino nurse who handed us a disposable kidney dish with some paper napkins and tap water to sponge Sophia with. Sophia was not too keen about the stethoscope and screamed very loudly. So I had to bring a very unhappy girl to the registration counter and pay up the $90 registration fee. We were then told that the wait was 2.5 hours!! Once we entered the real waiting are which was hidden from sight of the entrance we understood why. It was packed to the brim and every other child had a cold pack to his/her forehead so I asked Sophia whether she wanted to go to the playground. She immediately nodded her head. How she knew what was a playground is beyond me.

Look, mummy, I'm driving!

We barely played for 5 minutes though before grandpa called us saying they called her name but he can’t hear which room she was supposed to go to. So I had to bring Sophia over and ask around till I finally was told which room. We saw a doctor who was clearly an Indian national and rather young. She was very kind but Sophia similarly didn’t care for her stetoscope so we ended up with another very upset baby again. Her diagnosis was virus infection ie the-doctor-doesn’t-know-what-it-is-either and we were prescribed some paracetemol, ibuprofen, and iliadin.

So we jumped the queue to be ahead of some 80+ people just because Sophia had a sufficiently high fever. But half the people had fever pads on so I wonder whether they just had like 37.x degree fever or something. Else the priority queue would be ridiculously long anyway.

I hope this past month is not indicative of what it will be like on an ongoing basis. She’s sick for half the time ever since she came off breastmilk. So mummies out there, breastfeed as long as you can. It is, however very liberating when I finally stopped and didn’t need to be attached to the pump.

UPDATE: We suspect she has been falling sick because of the new milk we introduced. We’ve been rotating between fresh full cream cow’s milk from Horizon (organic), Organic Valley and Pura and I recently found an organic cow’s milk farm right here in Singapore that delivers their milk so I started ordering from them and the times when Sophia started falling sick roughly coincides with starting of that milk as well. Sophia has also been getting hives which she didn’t used to have so it does seem like a sort of allergic reaction. We’re stopping that milk to see whether the situation gets better. Already after stopping it as of yesterday, her temperature has gone back down to the 37s from the 38s and 39s, but it could also just have been a case of the infection having run its course and is dying down. I do hope its an allergy to that milk though, then the solution is an easy one.

The Real Real Real hospital bag guide

I know I’ve written a “real” hospital bag list before but that was for the pragmatist. But after a conversation with a friend about to deliver on facebook at the end of which we concluded we were weird mums, I knew I needed to create a guide for people like us. The presentation-conscious, control-freak type. This is not just a list but a guide because it also includes all the things you need to do prior to the big day.

4 weeks prior to EDD:

Pack your hospital bag

Sign up with cord blood bank if you so desire

Check out the hospital you are planning to deliver, where to drop of, where to head to for admissions etc.

2 weeks prior to EDD:

Get manicure and pedicure done, preferably gelish or acrylic so they will last (and so you won’t end up accidentally feeding you baby flecks of nail polish). Repeat weekly till delivery date, especially if just going for normal OPI polish.

Go for facial at a professional place that knows what products to avoid for a pregnant lady

Get a brazillian wax done

Get eyebrows shaped

Get a haircut

When having contractions:

Shower

Do not eat anything in case you need anaesthetic

Put on light makeup, preferably fragrance free. Go light on the foundation which will melt and streak down your face as you perspire in pain. Smudgeproof, waterproof products are best. I would probably do tinted moisturiser, concealer, cheek and lip tint and 2 coats of waterproof smudgeproof mascara.

Grab your bag and hop on to your transport of choice.

Hospital bag:

Going home clothes (something convenient for breastfeeding but presentable since you probably want a photo).

Comfortable nursing dress to wear in the day in hospital. The ugly hospital gown is not compulsory in private hospitals.

Toiletries including makeup remover, facial wash, toner, moisturiser, sunblock, lipgloss, handcream. Shower gel and shampoo will be provided in single wards (not sure about other wards) but if you have a favourite, bring.

Toothbrush and toothpaste

Makeup including foundation, concealer, lip gloss, cheek tint and mascara. These are my basic essentials but bring your essentials 🙂

Fit flops / Birkenstocks

2 nursing bras. Breastpads can be purchased from hospital’s pharmacy in the unlikely scenario that its needed.

4 pairs cotton briefs and stick on type maternity pants. None of the disposable rubbish or tying on the loop type pads like a sumo please!

Scrunchie if you have long hair. It really gets in the way at the most inconvenient moment.

ipad or equivalent, phone and chargers.

Camera and charger

Breastpump and accessories

Pre-admission materials if you did the pre-admission. Cordblood banking materials too.

2 sets of going home clothes for baby, 1 in premmie size and one in slightly larger than newborn size.

Swaddling blanket

Please pack these all into a presentable looking baby bag, not one of those cartoony things and if it doesn’t fit into one large bag comfortably, something is wrong, pare it down and repack. There’s nothing less cool than going into the hospital with oversized potato sacks.

There. I’m serious about everything in this post, though healthcare professional and older folks may not necessarily approve of every item, esp the beauty related ones. Or the way I leave out socks for the mum and hats for the baby. But for my second baby this is genuinely how I am going to prepare for birth.

Caesarean vs VBAC

Which is better worse. Not that I have to consider this question in the foreseeable future but its always good to be prepared. And in case there’s soemone among my wide viewership of 3 (there’s me, the husband whose only way of getting updates about his daughter is through this blog seeing as he leaves the house shortly after she wakes and long after she sleeps, and baby Sophia whom I read my sleep inducing musings to every night – no wonder she sleeps so well) Oh wait, none of them would actually need to consider this issue in the foreseeable future either. Nevermind, I digress. So here’s the completely disorganised discussion of which is better.

If you’re thinking about the baby, totally VBAC. The whole pushing a baby out process is supposed to trigger all the mummy hormones like prolactin and oxytoxin which makes the breastfeeding process much easier. Or so the lactation consultants say. Plus baby gets exposed to all the “flora” while passing through the birth canal which is supposed to do all sorts of good things for baby’s digestion, immunity etc.

For mum, I’m undecided. C-section is so much more painless, unless, like me, you went through an emergency of sorts where you experience both contractions and the knife, in which case, poor you. But its supposed to be a major op which takes more of a toll on the mum. Recovery is also supposed to be “slower” whatever that means because I was up and walking alone within less than 24 hours. VBAC doesn’t even have the advantage of avoiding an ugly scar because I already have one.

Seeing as the score is 1-0 for baby and 1-1 for mum, I guess its VBAC if possible. IF being the operative word because apparently I have such a small opening that the baby better be really tiny.