I would like to share our story with you. We are still in very early days, as our little girl, Sienna Cait, who has Ring Chromosome 18, is only four months old. I would like to share our story because I don’t know what I would have done without the support of those that have faced similar challenges before us. From personal contact, to reading others stories, it was all absolutely priceless to our family.
I hope that our story may provide someone with that support in return and help someone come to terms with the heartbreaking news that something is different about their unborn baby.
I remember at first being so completely heartbroken, so completely defeated, scared, hopeless, and beaten. So many emotions, so many you feel as if you are gasping for air, clawing out for anything stable that might keep you from falling into the earth. But that’s not even it, there are no words that do the experience justice.
So, I’d better get on with the story hey? But first, for those of you that may be in the position we were in just 5 months ago, let me make this absolutely clear. You are not alone, life will go on, you will make the right decisions for you and your family, you will love your beautiful son or daughter very much no matter how long or short the time you are blessed with knowing them. Although I realise there are A LOT of challenges to come, Sienna has already taught me so much, and I am so thankful for being given the chance to know and love her.
For me, at this stage, there are good and bad days. Sometimes I can face the world with my head held high, others I want to crawl into bed and stay there. I don’t think some sadness will ever go away. It will always remain; sadness for what you expected from life; from a child; from yourself. Sadness for what you feel you have lost, sadness when you look at others and feel that pang of jealousy. It’s ok. Those feelings are justified; the loss of a dream, of preconceived ideals, of control, of choice. They are significant losses and you shouldn’t be expected to get over them, they are real and will always be there. And the fear, oh my, the fear! But with a little reassessment hopefully you will see that things aren’t all for the worse, they are just different, you have gained a lot too. You have gained someone who you will love unconditionally, who will show you what it is to appreciate the little things, who will give you such joy at all of their achievements, no matter how tiny. You have gained a child to love and to love you; unique, completely innocent and beautiful. When I first saw my girl smile I think I actually floated off the ground I was that happy. And when she finally got that thumb into her mouth (something she had been trying to do since she was born) my partner and I almost cried with joy (certainly not a reaction to thumb sucking that I ever thought I’d have!).
Up until 32 weeks my pregnancy was uneventful, despite a minor concern relating to glucose levels which was deemed fine with further testing. All early scans etc had been completely ‘normal’. Troy and I were getting very excited about meeting our beautiful healthy baby girl by this stage. We knew I was much bigger than most women, but our first baby (Sienna’s older brother, Talon, healthy, now two) was 10 pounds so we didn’t worry too much about the size of me, we just assumed I was in for another big’un.
At 32 weeks we went to the hospital for a routine check up. And how non-routine did that turn out! Towards the end of the check up I thought I should mention my concerns about feeling less movement than I remembered feeling with Talon. The doctor didn’t seem too concerned (like me, I’m sure she just assumed it was mothers paranoia) but after some umming and ahhhing she arranged a couple of tests just to be over cautious.
Well, the trace showed that Siennas heartbeat was ‘normal’ (I hate that word now, let’s use average instead hey?) but it was not quite as reactive as they thought it should be. This worried me, but I was still sure nothing would go wrong…not for us. We were young, healthy, no family histories, already had a beautiful boy with no problems….and so on. I was taken to get an ultrasound done, again just to be over cautious. To my horror the ultrasound showed that Sienna had a very significant amount of extra fluid in her brain ventricles, under her skin, and in her abdomen. There was also way too much fluid in my womb. That was it for me, and I went into stress induced labor.
Arrangements were made for me to be flown to Brisbane. I remember sitting on the bed, inconsolable (despite the efforts of a midwife who chose to stay with me until my partner arrived), tears streaming down my face, rocking slightly, shaking my head over and over. I remember being unable to accept there was something wrong…no, no, no. I was told that the baby might not survive the trip. As I sit here trying to put myself back there, the feelings that come over me are so strong, so vivid, so heavy. There was quite a wait till I was taken by ambulance to the helicopter.
The helicopter ride was horrible and if someone asked if I was ok one more time I was ready to throw them! I think part of me at this stage was still thinking ‘of course it will be ok, it has to be, she will be just fine, I just get to meet her sooner than expected’. After what felt like about three months we landed in Brisbane. There was a big mix up regarding where we could land and because of this there ended up being a long ambulance ride to the hospital which could have been avoided, but we got there eventually. Once there, I was able to meet up with my partner (who had to drive to Brisbane with our son separately) and my mother. We were shown into the birthing rooms where a Dr told us he was waiting for a specialist to arrive. When the specialist arrived, he confirmed the previous findings and told us he didn’t know why this was happening or what was going to happen. They gave me drugs to stop the labor and they worked. I was relieved to not be giving birth so early but I was also so so scared for my little girl. This was the beginning of a long road of testing and waiting….
I remained an inpatient at the hospital for over two weeks, numerous tests were done, all coming back fine. Not a virus, not anemia. Even the first round of chromosome tests came back fine. So for a while there we had no idea why these things had developed in our little girl. In a way it was hard not knowing, but in another way at least not knowing meant we could keep hope alive that the problems could be resolved. So on we went, ‘waiting and seeing’, something we are quite used to by now. They had to drain fluid from my womb twice, around two litres each time. Contractions would start up fairly regularly, I think because of the size of me my body just thought it was time, but they would stop by themselves or with some medication. I was monitored regularly, I even ended up doing my own monitoring! (I secretly considered myself a bit of a pro at this midwifery stuff by the end of my hospital stays!) Eventually I was released from hospital and we all stayed at my mums who lived right near the hospital. I had to go in and be seen as an outpatient regularly to keep an eye on things. We still had no idea why this was happening.
On one of our visits to the hospital, the midwife told us that my doctor had asked to see us. I remember feeling VERY nervous. Why did he want to see us? He must have news? What would it be? Troy, myself and our Talon were shown down to a little room where we waited for the Dr. I remember looking up at him as he walked in, inside I was begging him to tell us good news. But he saw my hope, and let me know immediately that what he had to say was not good news. ‘We’ve got the longer term chromosome results back….’. ‘Ring 18’. ‘I had to look it up’. ‘Very rare’. ‘I don’t know’. ‘Outcome is likely a very bad one’. ‘Will have to think about how hard we try to save her’.
The words spilled forth, Troy and I were in tears, our son was in a state and wanting to go home, he didn’t know what was going on. Eventually he fell asleep in Troys lap. We left the hospital completely lost, completely alone, completely in disbelief, and completely shattered. I don’t remember the trip back to mums. Or the next few days that followed. I do remember doing a lot of research, not finding much a first, but then finding Unique and the 18 Chromosome Registry and Research Society. I must have contacted everyone and anyone that I thought could even shed the littlest amount of light on the picture. Those weeks were so hard, so very very hard. How we got through them I don’t know, but we just don’t have a choice about some things in life do we?
I talked to many specialists, each trying to help and give me information that they simply didn’t have. We talked about likely outcomes, she may not make it to the birth, she may be still born, developmental expectations were very low. All I could do for Sienna was try my best to stay calm and positive, I felt so helpless that I held onto that strongly. It didn’t always work out of course, there were times where everything just got too much and I would break down. I would talk to Sienna, rub my tummy, pray to mother earth to help us. So many people were there to support us, without them it would have been so much harder. I think all of the energy from their thoughts and prayers really helped too (that may sound silly, but oh well!)
The birth was planned as a c-section because of Siennas condition. It was planned for the 15th of August, at 38 weeks – two weeks early because we had decided, with the doctors help, that it was too much to wait until 40 weeks with all of the complications and all of the unknown. When to do the operation was a hard decision, part of me wanted to do it immediately because the ‘waiting and seeing’ with my baby girl struggling to live inside of me was just too much, but on the other hand I felt that she was safest still in me, then a doctor suggested that waiting till the end may give her a chance to ‘pass away on her own’ in utero, saving us some of the heartache. It was all so overwhelming, we went for a middle ground, wait but not till the very end, two weeks early was a nice middle ground. It still seemed like a lifetime away though, I didn’t know how I was going to get through the weeks of waiting around to see if our baby would survive. What would she be like if she did survive? It was such a difficult time. There were a few problems with bleeding that sent us flying back to the hospital, but it was only fairly minor (in the greater scheme of things!).
We prepared a letter stating our wishes. We wanted to give Sienna the best chance but we also didn’t want to give her endless intrusive treatments etc that would only make things worse for her. We wanted to make the right decisions for our beautiful girl, whether that meant staying with us or letting her go. It is a nearly impossible task to ask of a mother. They are decisions that no parent should ever have to face. I still have that letter, I read it sometimes and remember the intensity of writing it, the heartache, the completely torn emotions; many a tear was shed over that letter.
Well, the birth may have been planned for the 15th, but my little Sienna had different ideas. I started having contractions on the 8th, nothing unusual, it happened all the time in those last few weeks. They’ll go away….. I layed flat on the couch trying to discourage them, but they kept coming. Eventually, near the end of the working day, we decided we should go into the hospital. The contractions were still coming and if we didn’t get to the hospital soon our specialist would be on his way home. I knew and trusted him and didn’t want anyone else doing the delivery. So off we went, very very anxious. I think I was ready to have her by this stage, I’d had enough of waiting, I wanted crunch time, but we were also very scared. We waited in the hospital for sometime, contractions strong, not showing any signs of stopping. My Dr came in and told us he wasn’t taking any risks with me (seems he thought the chances for bub were quite low) and planned to do the c-section that night. She would now be delivered almost four weeks earlier than her due date.
We waited many anxious hours for the operating room, my contractions getting closer and stronger all the while. Finally it was time to head on up there. I was wheeled on my bed, into the anesthetic room. The emotions were running wild and we were lucky that all of the staff were so supportive. The team was called in, it was a crowded delivery room. This was it. I was going to find out if my baby could live outside of me. I cried on the table during the operation. I remember trying to look at peoples faces to see their reactions, to see if they would give me a hint as to what was happening. Could they see her? Was she breathing? Was she in pain? I looked to Troy, but his face didn’t tell me much, he told me later that he didn’t know whether she was alive at this point either. She was very still, and because of the severe excess fluid under her skin and in her abdomen it took them a long time to deliver her. Eventually she was free and was lifted over to the table they had prepared for her. All I saw was one little precious hand, flopping to the side. It didn’t look to have much life connected to it. The heartache was unbearable, the physical pain it caused is the worst I have felt and ever wish to feel.
Then I was told… ‘She’s breathing.’ She was trying to breathe on her own but the excess fluid made it very very difficult for her. She was ventilated and taken to intensive care, after Troy and I had a very brief hold. My memory is very hazy now as I had many drugs in me by this point. That was quite blissful! Seems the operation was a long one, we had to wait a long time to be able to go down to the nursery. Eventually we were taken to see her. I was wheeled in on my bed, Troy was beside me. I don’t remember if my mum was with us. I don’t really remember being there. I remember the feelings though. She was alive. A relief. She was looked severely affected by the excess fluid, she weighed over 5kg (over 11 pounds). The room was scary. All the cords attached to her were scary. Her ears looked to be malformed. But she was so innocent, so beautiful. We loved her. We couldn’t hold her but we were able to stroke her head (something she still loves).
At some point I was taken back to my room. Troy was allowed to stay the night with me at the hospital. We didn’t get much sleep. I called down to the nursery during the night to see how she was going. No changes. The next day we were able to go down to see her again. We spent as much time with her as we could, I still couldn’t walk so Troy would wheel me around. I was in a trance, I was running on no sleep and so overwhelmed with worry, hope, despair and so much more. That became a pretty permanent state for some time. They were trying to drain the fluid from her. If the fluid didn’t go she didn’t have a chance. It was too much pressure on her little organs and body.
She was born on the Tuesday night, by the Friday we were told some dire news. ‘The fluid isn’t draining.’ We decided to stop trying to drain it, continuing to do so was causing her more problems now, the risks of severe infection was increasing, the chances of the wound healing (where they were trying to drain the fluid from) were becoming minimal. We stopped trying to drain. We decided to let her go. ‘She will be gone by Monday.’
They broke the rules for our special circumstances, and allowed us to hold her properly for the first time on the Saturday. It was such an experience. It is very clear in my head. We cried so much, laughed too. We stroked her and held her close. It was quite spiritual. We had music playing. We were preparing to say goodbye. We loved her so much, the pain was so great. She felt our love.
She felt our love so much that she decided to stay with us. Over that weekend she lost over 2 litres of fluid on her own. I feel it is no coincidence that this happened after we had held her; babies need contact, they need to be held close and made to feel safe. That’s one of the hardest parts of being a mum to a baby in intensive care. You have to fight the continual instinct to hold them, rock them, make them know its ok, they are safe and warm with you. You have to sit back, out of control, wanting to pick up your baby and run away from all of this, from all the pain. My girl had a mind of her own already, she didn’t want to give up yet. She was squaring up to fight.
From that point on I have nicknamed Sienna the ‘stuff you!’ baby. Whenever a Dr tells us she’s going to do something (or not do it) she promptly says ‘stuff you’ and does the opposite! She remained in intensive care, improving. We were allowed to have more holds. She was put onto tube feeds of breastmilk (rather than fluids through her belly button). I had been expressing and I continued to do so for two months. The days were long, the nights were long, the weeks were long. We were in some kind of sub-reality.
We had one failed attempt at taking her off ventilation onto room air. She tried to breath on her own as she always had, but she didn’t have enough pressure into her lungs. Her oxygen levels therefore remained low and we decided to put her back onto ventilation to help her get stronger. The second time she was taken off ventilation and put onto something called C-PAP which just gave her the extra little bit of pressure that she needed. This was weaned down slowly and eventually she needed no help at all. I began trying to breastfeed her. Gee whiz was that a long struggle! She was so sweet the first time we tried. I put her in position but she just looked up at me with this funny smile as if to say ‘Well….this is nice…but what do you want me to do with this thing?’ We persevered for a long time, I kept expressing and giving her it through her tube while trying to get her to breastfeed when she was awake enough. No one had any answers for us. It’s very frustrating but I realise it must be frustrating for them too. I have background in science so I did as much research as I could, but the answers I wanted just don’t exist. You know… ‘this is what she’ll be like; this is what you can do for it; the cure is….’ Unique and the Chromosome 18 Registry and Research Society were fantastic. I have made it my mission to make sure people in our position in the future in Australia are told of these fabulous organisations immediately, not left to feel alone and find their own way during what is already such a hard time.
She was moved to a children’s hospital in Brisbane where we spent another week. The total hospital stay for Sienna was two months. The total time for us away from home, four months. After many ups and downs, not being sure what to allow yourself to feel or think, it looked as if we were going to take our baby girl home with us finally. She was going to be ok. For now at least…who knows what’s to come, it’s so scary isn’t it?
Siennas list of challenges (don’t we all love rattling off these?!) ….severe ascites, severe eodema, PFO, PDA, mild tapiles, dislocated hips, high arch palate, feeding difficulties, significantly enlarged brain ventricles, cyst on her brain, anterior anus, moderate – severe hearing problems, narrow ear canals, minor tongue tie, ptosis (especially in left eye), blocked tear ducts, lip blisters, fast short breathing (wheezy at times), they think there is something funny above her liver (not sure what yet) and her tummy often feels hard and looks bloated. Well, now for some good news. The severe ascities and eodema cleared up on their own (hopefully never to return), the PFO closed spontaneously, the PDA was deemed insignificant (however there remains an unexplained murmur in her heart we just found out about), the tapiles shouldn’t be a problem with stretches and maybe casts, her hips are ok now due to wearing a Von Rossen splint for 8 weeks, her feeding difficulties are resolved (with a lot of perseverance – anyone who is going through this at the moment I encourage you to keep trying, please call or email me if you need to talk) and she now breastfeeds very well (she has even had her first bit of solid food, baby rice cereal, which she had no problem with…yet), the cyst in her brain disappeared (WOW!), her anus doesn’t look to be a problem at this point and her blocked ducts cleared up on their own. Other things she did or does include holding her hands tense and her wrist bent inwards (they are relaxing more now), her tone was low but seems to be getting much stronger, she has unusual eye movements (rolling around in funny positions at times), her gums and mouth look a little different, she is very vocal (lots of little grunts, squeals, and gargles), she makes some unusual faces often (I wonder if this is just related to the excess gas she gets because of her high palate or if there is something else causing her some pain or discomfort? Or maybe they are just Sienna faces?), her joints seem loose and crack a fair bit, and her belly makes funny noises sometimes, I also think her spine may be a bit out or she just holds it funny. She’s putting on weight but is well below the first percentile for height. Her head sometimes looks a funny shape (from certain angles).
Talking to the Doctors is hard. Realising they are only human is harder. Most have never heard of the disorder and know nothing about it. Most don’t even bother to read Siennas file (in their defense, it is two volumes thick!) A lot seem to think ‘Well, she has a chromosome disorder, what else do you want to know?’ Do you think it just gets put in the too hard basket sometimes? Do you think the doctors judge you and think you’re neurotic? I don’t know, it’s just really hard as a parent to find yourself having to educate the doctors when they are who you want to turn to for the answers. Hopefully this will get easier with time (god knows we will get enough practice, Sienna is already seeing about ten specialist and therapists!)
Sienna loves to look at faces. She gets excited easily. She’s so quick to smile. She kicks her legs when she finds something pleasurable. She watches you move about the room. She holds on to your shoulder when you carry her. She can roll from her back onto either side. She can hold her head up for small amounts of time without support. She smiled for the first time at 4 weeks old. She tries to talk to you with her gorgeous little noises. When she looks into my eyes I see love, recognition, contentment and trust (and there is no mistaking a mischievous twinkle!)
Oh how I worry about her, how I hope she feels no pain, how I hope she grows to be a happy and healthy girl who knows the joy of life. The worry, the second guessing yourself, the happiness, the sorrow. Life. This is our new life. And we welcome it. Like I said at the beginning of this epic saga, we continue to have ups and downs (don’t get me wrong! There’s still some very hard feelings to deal with), but we are choosing to revel in the ups and to let the downs go.
The story doesn’t end there. There’s a lot of blank pages to fill yet, but we’ve bought the book and although we are desperate to see how it ends, we are enjoying every page. One thing I have found helpful to keep in mind…One day, you will miss today. If anyone out there has any advice, any thoughts, any anything! please contact me, I would love to have contact with other families. I especially would like to know what has been diagnosed in your children, how it was diagnosed, what was used to treat it, and how effective was that treatment. Thanks so much for all the support.
