Searching for Answers

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Well. It appears I have a lot to say. Which will come as no surprise to any of my friends who are following this blog! And as a newbie blogger, I’ve made a mistake. I guess it was bound to happen. I promised this next post would be about finally obtaining our diagnosis. And then I wrote the post. It was long. Crazy long. And I don’t want to bore you all to tears before we get to the juicy bits…the helpful, positive, educational bits!  So to keep things manageable, I’ve split this post into two parts. The first part of this post talks about some more of the hurdles we faced along the way, with a particular focus on feeding issues and the battle to be “heard” . The second part of this post will be added shortly, and does actually end with the relief of obtaining a diagnosis. As is sometimes the case in real life, the journey to get there just takes a little longer than I had planned. I invite you to join me for the ride…

 

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AFTER ELLEN BARRON

Despite giving Sophie her first bottle while at Ellen Barron, I was still attached to the idea of breastfeeding. We went home and bought bottles and formula, and I put them in the cupboard and continued to struggle along with breastfeeding and pumping. Due to stress and sleep deprivation, my milk supply was once again suffering. At one point we had to resort to buying breast milk from the breast donor bank. They were wonderfully supportive, but the cost was prohibitive, so we could only afford two week’s supply. I continued to pump. In hindsight, I probably should have admitted defeat at this time, as using bottles and formula would at least have allowed me to get some precious sleep.

Meanwhile, we were waiting for the results of the Cri du Chat test, These were some of my darkest days. I kept thinking about whether or not Sophie did indeed have Cri du Chat. I became obsessed with the idea. And at those times I couldn’t see the beautiful little girl in front of me. I could only see some terribly disabled creature that I wanted nothing to do with. Of course now I know that a Cri du Chat diagnosis would not have been the end of the world. But back then I thought it would be.

The day we were to receive our Cri du Chat test results I hit rock bottom. I had to ask Frank to come home from work because I couldn’t even look at my darling daughter. I had literally put her down into the cot, and didn’t want anything to do with her. Everytime I looked at her I saw some terrible future that I didn’t want. And of course I was in the grips of terrible postnatal depression. I thought it would be better if I were dead. Or perhaps if she were dead. I am so terribly ashamed to admit that, but it is true.

When the phone call came to say the test had come back clear I literally did not believe them. I was so out of my mind by then that I thought they were lying to me. I literally could not get it through my head that the test was negative. Poor Frank. Wonderful Frank. He held me, he supported me through my temporary insanity, he spoke to me kindly and gently until at last it sunk in. Sophie did not have Cri du Chat.

With a clear test for Cri du Chat we were back to not knowing. But I knew. I still knew. Something was wrong.

We went back to the paediatrician when Sophie was six months old. Again I voiced my concerns. Our paediatrician once again ignored everything except for the fact that Sophie wasn’t gaining adequate weight. She was classified as failure to thrive. He decided to hospitalize us for a few days to observe Sophie’s feeding and try to see if improvements could be made. I think his main concern at this stage was how depressed I was, and he wanted me to wean Sophie. I felt bullied into weaning her while I was in hospital. Although in a way I knew that something had to change. I was exhausted from being the only one who could do all the feeds, I was depressed, and in honesty I needed to get onto medication.

Our stay in hospital was lonely and depressing. Most people didn’t even know we were in hospital, so we had no visitors other than Frank. Again I experienced the frustration of being unheard. The nurses would walk into the room, and without so much as getting Sophie out of her cot (she wasn’t sitting at this stage) they would comment “Oh look what a lovely normal little baby” or “What a perfectly normal little baby you have”. What the heck??? That’s a pretty odd thing to say to someone. It turns out the doctor had informed the nurses that I believed Sophie had a genetic disorder, and that he disagreed. I felt he was making a fool of me. No-one was taking my concerns seriously. It was then that I really started to question my own sanity. If all these people were saying she was fine, maybe she was fine, Maybe I wasn’t just overtired, stressed and depressed. Maybe I was actually crazy.

But there, right in front of me, was more than enough proof that I wasn’t imagining things. She had deformed teeth for heaven’s sake. That is NOT normal! She had more than 15 other physical anomalies. Perhaps I could have been imagining everything else, but the physical proof was right in font of me. I felt alone, I felt I wasn’t being listened to, I felt frustrated, and scared.

The nurses were determined to get Sophie on the bottle. I wasn’t yet ready to let go of breastfeeding my child. I remember one night “sneaking” a breastfeed in. I got reprimanded by a nurse who found me breastfeeding Sophie. I ended up feeling guilty the last few times I fed her.

One day they brought the hospital physiotherapist and “feeding specialist” to visit. She told me that she was the expert, and could get “any baby to feed”. I think she believed I was just an inexperienced and stressed mother who simply needed someone to “sort her out”. She took Sophie, tried to feed her for about 10 minutes or so, had no luck at all, and promptly gave up and left. Sorry? Didn’t you just tell me you could get any baby to feed?

The nurses became obsessed with getting the right number of mls into her. They didn’t seem to know or care why she was having so much trouble feeding, they just wanted to get milk into her, any which way. They wanted me to force feed her. I tried but just couldn’t bare to force feed her while she was screaming blue murder, kicking, crying. The nurses suggested it might be best if I left the ward as they were going to feed her and I might find it distressing, I handed her over and watched as they started to feed her. She was crying and fighting and they kept forcing the milk into her mouth. She looked terrified. I was horrified. I turned on my heel and fled.

One nurse followed me and I sobbed to her about how afraid I was that we wouldn’t be able to sort out the feeding. She said “there is NO WAY we will let you go home with her feeding this poorly. “It’s just not going to happen”. With the force feeding they managed to get 650 mls into her. The largest amount she had managed prior to that was 450mls. The doctor saw 650 mls on the chart and promptly came to me, said she was eating enough and that I could go home. A child of her age “should” have been taking about 1200 mls per day. I lost it. I felt betrayed. The nurse had promised there was no way they would send us home with Sophie feeding like that. The only reason she had 650 mls on the chart was because they had poured milk down her throat while she choked and cried and fought them. I knew that I wouldn’t be able to do that to her at home. So I refused to leave the hospital. I told them I wasn’t going home until they helped me to sort out her feeding.

I stayed another two days. They were no help at all and the penny finally dropped that we were going to have to figure this out on our own. Disgusted, I discharged myself and went home.

In hindsight, I’m not actually sure how we managed to avoid nasogastric feeding, or a PEG. I suppose I can at least thank them for that, as I have seen the struggles that many parents go through trying to get children to eat orally after tube feeding. I suppose every cloud has a silver lining!

 

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After discharge from hospital, I went to stay with my parents for about ten days. Mum had offered to help out while I was continuing the weaning process, to allow me some sleep, and to supervise me while I was adjusting to antidepressant medication. What a blessing that ten days was. I can honestly say that I think I would have ended up in the psychiatric hospital at that point if it wasn’t for the support from my family.

We battled on. I had hoped that weaning Sophie would improve her feeding but it didn’t. It used to take us 10 hours per day to get 450 mls into her, mostly in 20 ml increments. Sometimes we would get 40 or 60 mls in at a time. Once we managed an entire 120 mls! I was elated, but sadly it was a one off. I felt ripped off that I had given up breastfeeding and the feeding was still a struggle. On the bright side it meant Frank and I could now share nighttime feeds.

I continued my search for answers. Googling became my obsession. I spent every spare minute on the internet, researching various genetic disorders and metabolic disorder. I wanted answers, but couldn’t seem to find a syndrome or disorder that matched Sophie’s symptoms and physical differences.

When Sophie was nine months old, I wrote to the Child Development Clinic at the Mater Hospital requesting an appointment. I was told we would be put on the waiting list and could expect to wait 12 to 18 months. No way could I wait that long. Precious time was ticking away. I needed to know what was wrong, so I could figure out how to help Sophie. So I could stop spending countless hours on the Internet trying to diagnose her. So I could plan for her future. Access assistance. End the insanity of the fear of not knowing.

So I sent a long email to them outlining all of Sophie’s symptoms, and suddenly we were given an appointment. We waited less than two weeks! That gave me hope. Obviously these people could tell something was wrong. Finally, we were going to get the help we needed! But no. The doctor at the Mater at least admitted that Sophie had some dysmorphic features. But because Sophie’s development was at that time just within the bounds of normal, the doctor decided she couldn’t have a genetic disorder. She did refer us to Genetics Queensland, but the letter again focused on my depression. and stated that “the mother may be reassured by normal genetic testing”. Again I felt like I was not being heard. I felt helpless in the face of the system. I felt distraught. Why were these people not listening? Why could they not see what was in front of their face? I was angry that the doctors thought I was imagining things because I was depressed, instead of considering the fact that I may have been depressed because there actually was something wrong with my child. My child wasn’t sleeping properly, eating properly, meeting some of her milestones. She didn’t feel right, she didn’t look right, but everyone was brushing me off. I reckon that would make anyone depressed.

A chromosomal micorarray was run and came back normal. At that stage I knew a lot less about genetic testing than I do now. I thought a chromosomal micorarray would show any genetic disorder. I was confused. I questioned the doctors and they told me that full exome sequencing was the only way to find all genetic changes. At that stage exome sequencing would have cost about $10,000, which of course the public system was not prepared to pay for, and we couldn’t afford. Metabolic testing also came back normal.

Where to from here?

 

NEXT POST…A DIAGNOSIS (I promise!)

Hospital Stay and Discharge

It has taken me a long time to write this post. I debated whether it was necessary/useful. I questioned myself about whether I was just having a whinge, looking for sympathy and being a victim…because I know so many Kabuki families had such a hard start with their kids in terms of medical complications. And so our “hard start” seems like nothing in comparison. This post has also been a while in the making as it was a difficult post to write. I kept getting “writers’ block”, as it was bringing up lots of emotions from that time. In the end I decided to persevere and post, as it provides some background about the state I was in when I started my journey into motherhood.

In some ways we were very lucky, in that Sophie was not born with some of the major medical issues that children with Kabuki can have…such as heart defects, kidney problems, or problems with aspirating fluids. That meant we avoided the trauma of having our child in the neonatal intensive care unit (NICU). While that was indeed a blessing, it also meant that Sophie’s issues were not immediately apparent to the doctors in hospital. It was to take us 20 months of battling the system to obtain our Kabuki diagnosis, and another year to obtain our Aspergers diagnosis…but I’ll save that story for another post.

Despite avoiding the serious medical complications, my introduction to motherhood was not an easy ride.

The first day after Sophie’s birth was a blur. I spent most of it asleep. Or, rather, unconscious.

The first night was anything but peaceful. We had been given permission to remain in the birthing suite so we could have a room to ourselves. The midwives felt that Sophie and I needed some privacy and space to recuperate overnight after the difficult birth. Unfortunately there was a change of shift, bringing a different midwife with a different opinion. This new midwife woke me and demanded to know when the baby had been fed. I told her that Sophie had been fed about 5 hours previously. I told her the doctors had informed me that Sophie was exhausted from the birth, and that it was feasible that she might sleep for up to 10 hours without another feed. The midwife told me in no uncertain terms that this was “absolute rubbish”. To my horror and disbelief she literally lifted my top, pulled hard and sharp on my nipple, and yelled that if I didn’t wake “the baby” to feed ‘”it”, she would express my milk and feed it to “the baby” in a bottle. I simply couldn’t believe it – this was the sort of treatment you read about from the 1960s, not something that really happens in this day and age.

She then proceeded to wake Sophie, and very roughly change her clothes, pushing and pulling her arms and legs, and throwing her about roughly. Poor Sophie started screaming hysterically. A high pitched wail of what sounded like sheer terror.

There was nothing I could physically do to stop this woman’s assault on my body or my baby. I still had the epidural in place and couldn’t walk. I was pinned to the bed. I felt disempowered, humiliated, and enraged at the way she was treating us. I yelled at her to please stop, burst into horrified tears. She didn’t stop, just kept yanking Sophie’s arms and legs, then virtually threw her at me before leaving the room in disgust. She returned just minutes later with an orderly in tow, and I was transferred into a shared ward. So much for some peace and privacy. I remember calling my husband in hysterics. I can’t remember any of the conversation.

The first night passed in a blur of exhaustion, intermingled with feelings of helplessness and pain. Helplessness because, paralysed from the waist down, I couldn’t even get out of bed to comfort Sophie each time she woke screaming. No little kitten mewls now. Just high pitched screams. I had to push the little red button and wait for the nurses to come, in their own time, to deliver my baby to my breast. Sophie didn’t latch very well, and didn’t feed much at any one time.  She kept collapsing into an exhausted sleep, only to wake again screaming within an hour or so. This went on all night. She was in discomfort from the very beginning.

I was experiencing pain in my incision each time I coughed. Which was still quite frequently. The nurses kept enquiring about my pain levels. I told them it was about a 4 when I wasn’t coughing, and an 8 when I was coughing. They looked at me like I was somewhat crazy, and I think they categorised me into the “difficult patient” category. “How could she be having pain? “ I could just see them thinking it. “She can’t be in pain – she has a damn epidural in!” Despite me telling them of my pain, no-one bothered to check my epidural site. And of course I was given no oral pain relief. I shouldn’t have needed it, as I had an epidural in place. It wasn’t until the next day, when they came to remove the epidural, that they discovered I was stuck to the bed with epidural fluid. A significant amount of the anesthetic had leaked onto the bed, not into my spine. I did get a very apologetic visit from the pain management team in a big hurry. But no apology from the various overnight nurses who had been virtually rolling their eyes when I reported my pain to them…only down-turned eyes and avoidance.

The second day was not much better. The only upside was that the nurses decided that I should be in a private room after all. I think a combination of my obvious ongoing distress, plus an obviously distressed and screaming baby helped them to make this decision.

That afternoon Sophie were unresponsive and pale when I was trying to feed her. I could not for the life of me wake her. She was floppy in my arms and completely non-responsive. I hobbled down the hallway to the nurses station yelling out “I can’t wake my baby I can’t wake my baby”. I was sternly reprimanded for carrying her down the hallway as it was “against hospital policy”. WTF? I’m scared that my baby might be unconscious, and I’m supposed to ring the bell and wait for a nurse to come? I don’t think so. This is my BABY we are talking about here. We had to strip her completely and wash her with a cold cloth before she could be roused. Then I went to change her nappy for the first time, and asked if I could be shown how. The nurse looked at me like I was a complete idiot, and made some off hand derogatory comment that I can’t remember. Perhaps it was the thousandth nappy she had changed, but I had never held a newborn before, never changed a nappy, I wanted to be sure I would do it correctly. I didn’t realize I would be expected to know how to do this.

That evening Sophie became jaundiced. They took her and put her in a little crib with the bili lights. She was stripped down to a nappy, and blindfolded. She hated it. She hated it so much that she just screamed and screamed and screamed. After several hours of listening to her screaming at my bedside, with me being able to do nothing to help, I begged the nurses to take her to the nursery so I could get some sleep. I just wanted the screaming to stop. After a couple of hours with no sleep, my guilt at abandoning her overcame me and I begged them to bring her back. She was still crying pitifully. It was so terribly sad. Here she was, brand new to the world, alone, blindfolded, stripped, flayed out, not being cuddled, not being held. The nurses never suggested to me that I could hold her. After a while I somehow figured out that I could hold her in my lap and move the light around so it would shine on her. She stopped screaming. I wish I had figured this out hours earlier. I felt like a bad mother for letting her scream so pitifully in that bili light crib for so many hours. Alone and helpless. And I felt angry that the nurses had not told me it could be different.

I think it was about then that I rang Frank in hysterical tears again. I think my underlying certainty that something was “wrong” with Sophie, combined with my grief over the birth process, amplified every little problem that happened during our hospital stay. I was distressed to the core and couldn’t cope with anything going wrong. Being a public hospital, husbands were not allowed to stay the night. But by now Frank was so damn sick of the treatment we’d been getting, and so upset with my distress, that he demanded to speak to the hospital administrator. It was about 3am but somehow the administrator was tracked down and Frank was given permission to come and sleep on the floor beside me. Thank god for that. Once Frank was there I felt safe. I felt like someone was on my side. I felt like the nurses wouldn’t dare mistreat me with him there. I felt like we would get through the next horrible few days until we could get the hell out of there and go home.

I received conflicting advice from every midwife in regards to how to go about feeding, how often to feed, how to get Sophie to latch. By the end of the stay I felt I couldn’t trust my mother’s instincts. I didn’t feel I could even judge how often to feed her. Should I wake her to feed ? Or leave her to sleep? The nurses and midwives insisted I should wake her every 3 hours, as she had been jaundiced and needed the fluids. The doula insisted I should let her sleep and feed when she wanted. Sophie wasn’t much help, as, unlike “neurotypical” babies, she only had one cry. She didn’t have different tones and noises for “hungry”, “cold”, tired”, “lonely” – just the one very high pitched wail.

By the next day, after only about 10 hours sleep in four days, I was starting to lose my grip. The doula suggested I should eat some placenta (which she had saved and frozen, as I intended to plant it under a tree). I had always thought that eating your placenta was something that crazy hippies did (I have a bit of the hippie in me, but not that much!). But at that point I would have eaten my right arm if I thought it would give me some respite. The doula dutifully shaved off some small pieces and placed them inside some avocado, suggesting I pretend it was sushi. I couldn’t bear the thought, but I was desperate. I swilled each mouthful down with a large swig of water. No chewing. Within 45 minutes I was relaxed, pleasantly light headed and very sleepy. Shortly after, I fell into my first peaceful sleep for days. I was a placenta eating convert!

During this whole period, I was dealing with growing concerns about the well-being of my child. From the day after Sophie was born I knew deep in my mother’s heart that something was wrong. To begin with it was something I couldn’t explain – I just thought she didn’t look quite right, and she didn’t feel quite right. I distinctly remember my family passing her around the room, and me looking on and thinking “there is something wrong with my baby”. The first icy twinges of fear closed around my heart. My fears were put down to an overreaction, as I was distraught about the birth and subsequent proceedings, and not coping well. But as the days passed I began to notice some physical differences. She didn’t have a grasp reflex, and no rooting reflex. She seemed floppy, and was having trouble breastfeeding. The doctors and midwives told me this was due to the drugs I had been given during the late part of my labour and the c-section. She had a simian crease, a sacral dimple, an umbilical hernia, and slight pectus excavatum (like a small “dint” in the center of her chest). One of her pupils looked bigger than the other. None of these things were noticed by the doctors. When I pointed them out, they brushed it off, and told me it wasn’t unusual for kids to have a few minor physical anomalies. Months later, when desperately searching for answers on the Internet, I was to discover that about 3% of the”normal’ population have one minor congenital anomaly, about 1% have two minor anomalies, and less than 1% have three or more. And that any baby with three or more minor anomalies should be considered as potentially having a genetic disorder…I’m not sure where those doctors went to medical school, but they must have missed out on that particular lecture.

All in all, my time in hospital was a pretty unhappy time. I just wanted to get out of there and back to the sanctuary of our home, where I thought things would improve. So three days after my c- section I discharged myself. I had imagined going home elated, thrilled with my newborn and full of the lovely bonding hormones of early motherhood. Instead I went home exhausted, in pain and feeling unheard and uneasy.   Pictures do lie!!! Or maybe not. There is a smile on my face, but you can possibly see the tiredness in my eyes….

 

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NEXT POST…FEEDING, SLEEPING, AND SEARCHING FOR ANSWERS