3 Months on – Williams Syndrome

What a busy 3 months it has been. The little fella has been doing an outstanding job, especially with everything he is dealing with. Here is a quick run down.

Feeding Issues

When he was born he really had trouble latching and so for the first couple of weeks he was finger fed. I thought this involved some sort of dripping from your finger but they actually use a small piece of tubing that is strapped to the finger. My Lovely Wife did most of this but I did also finger feed him. This all happened before the Williams Diagnosis and was just down to him being a ‘fussy baby’ and then tongue-tied. (spoiler – feeding issues are one of the first symptoms that appear in Williams children)

He really didn’t take to the breast well and My Lovely Wife found using a nipple shield helped. He still struggled to latch and lots of milk would be lost from the side of the mouth. We introduced a bottle and things improved but he required a mixture of fast and slow teats to encourage him to feed. Often at night he really struggled drinking from the breast and so the last feed of the evening would usually be a bottle feed.

We had the Tongue-Tie snipped and it didn’t appear to make much difference at the time but we both think it definitely improved things.

In the past 3 weeks he has managed to do without the nipple shield completely and is latching much better on the breast. He still appreciates his bedtime bottle and this is because he is all tired and so doesn’t have the energy to feed off the breast.

At the moment he *should* be on 4oz of milk but he has been struggling with even 2oz. We can’t force him to feed but we do make sure there is always a bottle or a breast around if he wants some more. Recently he has got a bit better and we are seeing 2oz being downed and going onto a 3rd ounce.

Even when he does drink 2oz he probably vomits up about half, if not more. No matter how much back rubbing and burping you encourage, we are seeing a lot of what goes down, come back up.

Weight

As you can expect from his feeding issues, he isn’t tracking to his growth chart. The last two weigh-ins have been below the tradjectory. All we can do is keep offering him food. He is putting on weight, which is a good sign. And we are starting to find the 0-3months sleep suits a bit small around the feet. Not that he has fat feet, but it means he is growing, and that is positive to see.

Development

He is still a baby but at about week 12 we started to see the start of a smile. Week 14 and we’re seeing them a lot more often. Week 15, if the little man is in the mood, and finding what you are doing funny, he beams a smile. That is really helping. We are also seeing him track things and people as they move across the room. I’d say we are a bit behind what a typical baby would be but he works to his own plan.

Health

This is where we have had a bit of a mixed bag. He has had an Echo-cardiogram, CT Scan of the heart, Kidney scan and plenty of bloods taken. The heart is getting stronger which is great news. He does have narrowing of some the vessels from the heart and that is making his heart work harder. This is something that needs to be monitored continuously. It is also something that could ‘improve’ over time, or stagnate, or get worse – hence the monitoring. The doctor involved with this has been an absolute star – but I will come back to doctors later.

Kidneys are fine. A relief.

We both noticed a raised section of his forehead and so after a telephone consult with the GP, were advised to take him to hospital. After a few hours he was seen and we were told to ‘photograph it’ and keep monitoring it. They wouldn’t do any scans or anything as apparently this is all radiation and harmful to him so just we take photos and thats it.

Separate to all of that, he needs an operation that should be done before he turns 18 months. This may change though so we will be monitoring and working with the doctors to decide when is best. Williams children need special consideration when it comes to anesthetics. The fact he has cardio issues also need to be taken into consideration. So much to think about.

We *think* he has a dairy allergy. One day his skin started getting really inflamed, like stinging nettles kind of marks. My wife stopped all dairy (milk/cheese/etc) and his skin improved. This has meant we donated all our formula milk (it is cows milk based) and have to rely solely on breast milk. Another thing for us to monitor.

Doctors

Well this has been a mixed bag and mostly rubbish. You’ll know from this blog we got a diagnosis some months ago. Have a guess if anyone has contacted us regarding Williams Syndrome? Nope, not one person. We are getting referrals for individual things (heart/Kidneys/operation) but no-one has spent time with us explaining the diagnosis. Not one person! That has meant that Dr. Google has been advising us and he isn’t really to be trusted!

Because Williams is a genetic issue, from the day of the diagnosis we were ‘referred for genetic counseling’. Our guess is that they want to test me/My Lovely Wife/Wiggly-Squiggly to see if we also have the chromosomal deletion. Have we heard from anyone since then about this? No. I’ve actually contacted my GP and asked for THEM to refer ME themselves and I have a telephone appointment coming up from from Genetics department. We have still not heard about our ‘family referral’, despite us bringing it up at EVERY appointment we have attended at the hospital. One of the doctors did make a referral for us to get a consultant pediatrician to oversee the little man but, once again, nothing has moved on that front. Everyone has said they can see the referral on his records but no actual follow up or date.

We got a letter through the post about a hospital appointment that might take upto 3 hours. There was no actual details on what the appointment was about but we thought it was about his last blood test. When My Lovely Wife attended (during Covid only 1 parent is allowed in) we discovered it was about the operation. The Surgeon was talk about doing the operation and putting us on the waiting list and I kept asking whether we needed to consider any of the Williams issues with the operation. He replied, ‘You probably know more about Williams than I do’. Can you imagine how worrying that is. I told the Surgeon that my concern is that all these things are being looked at in isolation and no-one is taking a top-down view of the entire picture. He told me not to worry as the Anesthetist would take the heart issues into account. I asked him whether there were other Williams issues we needed to consider and he said he didn’t know.

I gave the Surgeon both barrels saying how are we, as parents, supposed to know what is best for our son if no-one is explaining to us what is happening and what we can expect. He then had to go off and take a phone call and some other doctors on the call said they would chase up our referrals. I wasn’t holding my breath.

During our CT scan they said no food 1 hour before appointment. Our appointment was around 11am. We gave him his last feed just before 10 and made our way to the hospital. Long story short – they tried to insert a cannula 14 times, he wasn’t actually scanned until about 6pm and wasn’t allowed to eat until after he was scanned. This made my blood boil and I’m amazed by the strength of My Lovely Wife who had to sit in a hospital all through this, seeing the little man be taken away for more cannula insertion attempts and then get so tired from all his crying of hunger that he stopped crying and stopped moving/reacting to anything. From this point on I decided I’m not going to take any shit from doctors again. I also told My Lovely Wife that she should drive all conversation and decisions with doctors – they don’t get to decide our son doesn’t eat for nearly 8 hours.

It upsets me just thinking about it.

Next Steps

Waiting for the genetic counseling for us as a family, my video appointment (and hopefully my follow up blood test and results), our consultant pediatrician and then finally getting some answers and direction on what we need to do going forward.

We still have a long road ahead of us and hopefully it will be more down-hill coasting rather than up-hill struggles.

 

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