WHAT A SCARY WORD ‘SYNDROME’

Like every morning I walked in the Bay, said good morning to Cecilia and checked all her stats from the night before, but this morning I saw more than the usual. It seemed that the Doctors had done their daily rounds earlier and they had left Cecilia’s file open (usually this file is put away straight away by the nurse so parents can not read it). The first page in the file was a letter from the doctors to the Genetic Team asking for their opinion regarding Cecilia’s abnormalities. The Genetics Team responded back saying that there wasn’t anything that they could pinpoint it to but they suggested that they perform a blood test to check for a Syndrome.

When I saw the word Syndrome, I felt that the world was falling on top of me. I couldn’t breath. They had even written the word Syndrome with a question mark. Every time I would close my eyes I could see Syndrome?

As soon as the nurse that was looking after Cecilia that morning walked in from her break, I asked if the doctors had mentioned anything new. She replied that she was not present when they did the round but they had left a slip for bloods to be taken, but she did not exactly know what it was for.

I was so angry, why weren’t the doctors communicating to me what they suspected. How come everyone was thinking that Cecilia had a syndrome and I couldn’t see it?

Eventually the Pathology nurse came in later that morning to take Cecilia’s bloods. I asked if she could tell what the bloods were for. She explained that they were to check the Cholesterol levels in the blood and it would take up to 10 days for the results to come back from the Royal Children’s Hospital.

I was really upset; I just wanted to find one of the doctors straight away.

As soon as Cecilia fell asleep I went for a walk to see if I could find a doctor. Luckily as I walked out I saw the Register coming out of another bay, so I quickly went up to him and harassed him. I told him what I had read and I wanted to know what was going on. He told me that it wasn’t for sure but Cecilia had quite a few symptoms as of the Smit Lemli Opitz (SLO) Syndrome so that’s why the Genetics Team suggested having the test done. He also told me not to stress about it because this was only a possibility and because he could not tell me for sure they did not mention anything. I asked him to write the name of the Syndrome on a piece of paper for me (there was no way that I was going to remember this).

I had no clue of what this meant and the first thing I wanted to do when I got home was to search the net.

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies (MCA)/mental retardation (MR) syndrome caused by a defect in cholesterol synthesis.
Affected individuals usually have low plasma cholesterol levels and invariably have elevated levels of cholesterol precursors, including 7DHC. Severely affected individuals (those with the condition formerly referred to as Smith Lemli Opitz syndrome type II) have multiple congenital malformations and are often miscarried or stillborn or die in the first weeks of life. Dysmorphic facial features, microcephaly, second-toe and third-toe syndactyly, other malformations, and MR are typical. Mildly affected individuals may have only subtle dysmorphic features and learning and behavioral disabilities.
Many possible complications are recognized. Virtually every cell in the body is dependent on cholesterol to maintain normal function; therefore, the cholesterol deficiency in patients with Smith-Lemli-Opitz syndrome can affect every organ. Those most severely affected with Smith-Lemli-Opitz syndrome are either spontaneously aborted or die in the neonatal period despite maximal therapy. Many individuals have multiple malformations. Congenital heart disease and brain malformations may be lethal. Affected individuals who survive may have renal disease, adrenal insufficiency, seizures, failure to thrive, and hepatic dysfunction.
Survival is less likely when the plasma cholesterol level is less than approximately 20 mg/dL as measured by gas chromatography.
I couldn’t stop crying and I wanted to die. Why was this happening? This was horrible. How were we going to manage and look after her? What was I going to do with my job? Ten million questions came up in my mind at the same time. The worse one was, why does Cecilia have to go through this?

I couldn’t keep this to my self so I quickly called Manuel to tell him. He seemed calmer than I was and kept on saying that everything was going to be fine and the test results were going to be clear of this syndrome. I really wanted to believe him but I was really scared.

I then called my sister and told her that I needed to speak to as soon as possible. She told me no worries and to come straight away. My mother was also there so I couldn’t tell them at the same time.

It was really hard to tell them and also ask them that if Cecilia did have this Syndrome I was going to need 110% help from them to be able to look after Cecilia.

We kept on reading the information that I had downloaded from the internet, and it was hard not to think that there could be a possibility.

The Biggining of our Life in Hospital, continued

Also that week I started trying to put Cecilia on the breast. By now she was 36 weeks so she should be ready to try. Usually they try to put premature babies on the breast by 34 or 35 weeks.

Cecilia did seem interested but she just could not get the hang of it and she would get very frustrated.

The first week went by and Cecilia was still not attaching. That’s when Kate Taubert (she usually works in Ward 41 North but she was on her three month rotation) and other nurses (which I would love to mention their names but I haven’t asked them for their permission) suggested that I speak to Samantha Gordon. Samantha works as a nurse in NBS usually in Bay 1 and 2, but one of the many great skills that Samantha has, is that she is also a Breastfeeding Counsellor.

Meeting Sam was a breath of fresh air. She was always smiling, had heaps of knowledge and best of all she was of great support.

She introduced me to the ‘Breast Shields’ these are great!!! As you may know, not all nipples are the same and not all are easy for babies to suck on.

Cecilia did suck her dummy so she enjoyed sucking on the shield but unfortunately Ceci did not have the strength or the skill to suck hard enough to actually be able to feed by her self. We also started to notice that she would get very upset. Sometimes she could be trying for 45 minutes but my breast was still full. Something else was going on.

The Family Resource nurse (also a great person but I haven’t got her permission to mention her name) suggested we make an appointment with the Speech Pathologist.

A Speech Pathologist? Yes this is what I asked myself. Why do we need a Speech Pathologist if Cecilia is too little to be speaking!! Instead of asking straight away what a Speech Pathologist was, I just waited for her to turn up, which is very wrong. If you don’t know something you must always ask. They say that ‘there is no such thing as a silly question ‘which I truly believe when you are someone’s advocate.

When the Speech Pathologist arrived I learned that not only do they assist with speech issues but also with feeding/swallowing.

Finally Cecilia had reached 1.8kgs so she was able to come of the isolate as long as her temperature didn’t drop under 36.5 º.

It was really exciting being able to see her all the time without a glass between us, being able to pick her up as many times as I wanted. Even though she still had all her leads attached she looked free.

I had forgotten to mention before but since Cecilia was taken to NBS they put on her three leads (three colours: green, black and white). These were to measure her respiratory rate and also she would have a SATS probe which would measure her oxygen saturation and heart rate. These had to be on all the time. Only when she would have a bath we could remove them as long as she had been stable that day.

Back to the Speech Pathologist; as she tried to feed Cecilia she noticed that Ceci was not sealing the nipple, that her tongue was not under the nipple like it should and that she had difficulty swallowing.

She suggested that apart from trying with the breast that we should start trying with a very low flow bottle. This also meant that I had to be very patient and pray to all the Gods that eventually Cecilia was going to be able to feed by herself.

While all of this was happening Cecilia had her first Hearing Screen. This is one of the routine health checks that they do at NBS. The Victorian Infant Hearing Screening Program (VIHSP) is a program that they wish to eventually incorporate in all hospitals across Victoria.

I had given my consent way back when Cecilia was born but I wasn’t present when they did the first screening, and I say the first screening because Cecilia had to have a second one as she did not pass the first one.

I didn’t think too much about it because she could have been unsettled during the screen or had fluid (or other temporary blockage) in the ears. I wasn’t going to worry if I didn’t have too.