What a scary word 'Syndrome', continued

The next morning when I walked in the Bay, the Family Resource Nurse noticed that I was quite upset and that I couldn’t stop crying, even though I would try my best not to so Cecilia wouldn’t see me.

I explained to her everything that was happening and that I felt hopeless and lost. There was nothing in my power to stop everything that was happening. I just didn’t want Cecilia to go through this nightmare. Once again I was in HELL!!!!

She tried to make me feel better even though there wasn’t much she could say, no one could because no one knew what was going on with Ceci.

Later that morning I was approached by Social Worker (first time ever since Cecilia was in New Born Services) and she asked me if we could have a chat in private.

She told me that she hadn’t approached me before because she had asked nurses how Manuel and I were copping and the nurses said that we looked as we were fine. I still can’t believe how they could think that I was copping just because I was not crying all the time or looking like a zombie. Now I have learned (the hard way) that if you are not approached by a Social Worker you can request one and if you are not happy with the one that you have been assigned with you can request someone else.

I still had a chat with her, better said a big cry, but there wasn’t much she could offer me. The only thing that she mentioned was that she was going to try to speak to the doctors and get them to speak to me.

With Manuel we tried not to think about the syndrome for those 10 days. We just wanted to enjoy Cecilia as much as possible and keep on seeing her the way we always did, Perfect!!!

Thankfully Cecilia kept on growing and putting on weight, even though we were still having issues with breast feeding.

Also Cecilia had her second hearing screening which this time I was present. Ceci didn’t pass this one either so she now had to have a proper Hearing Test with an Audiologist. By this stage I was so worried about the Syndrome that I really didn’t take much noticed on the hearing side of things and also I didn’t want to start thinking about this until she had her proper test with the Audiologist.

During this 10 day wait Cecilia was moved to Bay 1 which was a great sign that it wasn’t going to be to long for her to go home.

Finally the day came; (we were bathing Cecilia that afternoon it was a really sunny day) when her Neonatal Consultant and the Family Resource Nurse came in to give us the great news that the test came back as negative. Both Manuel and I started to cry of happiness. Manuel was correct, she didn’t have that syndrome. So now we had to start concentrating in getting Cecilia’s weight up so we could take her home even if this meant that she would have to come home with the NGT.

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.