Finally…A Diagnosis

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While continuing our relentless search for answers, we began to put early interventions in place. Sophie started physiotherapy and speech therapy through the Queensland Public Health System. We were assessed for occupational therapy services. We started nutritional intervention and biomedical intervention.

We were referred for various investigations. Sophie had her head and spine x-rayed, bloods taken and her urine tested for metabolic disorders. She had her faeces tested for microbes and malabsorption issues. We had several visits to the audiologist (resulting in surgery to have grommets placed), a visit to the ophthalmologist, a visit to the paeditric dental and cleft palette clinic at the Royal Childrens’ Hospital, several visits to the gastroenterologist and some follow up appointments at the Child Development Clinic at the Mater Hospital. She had another short hospitalisation after having what turned out to be a febrile seizure.

For many, many months, it was common for us to have three or more appointments each week. In her first year and a half, Sophie had more than 150 appointments in total.

We saw Genetics Queensland (the public hospital genetics service) when Sophie was about 12 months old. They agreed that there seemed to be something wrong. They said it might be genetic or it might not. The one genetic disorder they did mention (Ectodermal Dysplasia) didn’t account for her developmental delay. I knew they were looking in the wrong direction. But at least they recognized that something was “off”. They told us to come back in 12 months, when they might be able to tell more based on how she was developing physically and mentally. I felt relieved that someone agreed that Sophie might indeed have some sort of genetic issue. But I couldn’t just sit back and wait another 12 months for answers.

We went to a private geneticist when Sophie was 15 months old. This was the first time that we were to hear of Kabuki Syndrome. During the course of the appointment the geneticist admitted that he was somewhat baffled, but that she had some physical features that made him believe Kabuki Syndrome was a possibility. I had already come across Kabuki Syndrome during my endless hours of “Dr Googling”. Even though it was only a three years ago, there was not much in the way of research or clinical information out there at the time. Most of the research papers talked about children with fairly severe intellectual disabilities, and semi-dwarfism. This didn’t match what I knew of my daughter, so I had moved on to searching for other answers. When this doctor mentioned Kabuki as a possibility I got straight back onto the computer, and still didn’t think it was the right fit. As it turns out, the geneticist wrote us a letter ten days later saying that on consideration he believed that Sophie did NOT have Kabuki syndrome, as she was developing “too well” for a child with that diagnosis. So I put Kabuki aside, and continued to search for answers.

When Sophie was 20 months old we finally got a definitive diagnosis. It happened almost by accident. I had taken Sophie to the hospital with a mystery rash. Our GP had not been able to identify it, so I had taken her to the hospital. The attending doctor in the ER didn’t recognise the rash either, so called the Head of Paediatric Emergency Medicine, Dr Herd. He took a look at her very, very thick file. He took the time to read through the contents. He talked to me and examined Sophie thoroughly. He even noted some additional features I had not noticed as being “different”– such as her short broad fingers. All in all he spent about forty five minutes with Sophie – which is a long time in an emergency department. At the end of our chat and his examination, he told me he thought it was certain that Sophie had some sort of genetic disorder. Finally I was really being heard…by Dr Herd no less. The irony was not lost on me.

Dr Herd said we needed to get to the bottom of it sooner rather than later, and referred us to a decent pediatrician. At Dr Herd’s request, we were seen within a fortnight. The pediatrician referred us to an excellent geneticist, Dr David Coman . My hero. My angel. One of those rare practitioners who genuinely cares about his work.. A practitioner who knows his craft well, yet never forgets that he is treating people, not just “patients”. “Dave” (as he introduced himself) also happens to be a paediatrician and a metabolic physician. So we had all our bases covered.

Dave carefully read all of the information I provided to him.  Three full pages about Sophie’s development, behaviours and physical symptoms that I had meticulously collated over the preceding months.  Unlike other doctors, who had chastised me for “googling” too much, or barely cast a glance at the information i prepared, Dr. Coman was grateful for the groundwork I had put in. If you find a doctor who is irritated by you “googling” to try to find answers – find another doctor!  Google has been, and continues to be, a valuable source of information for us. Just dont believe everything you read.  Similarly, if you find a doctor who isn’t interested in looking at any background material you have prepared – find another doctor!

Dr. Coman spoke to us for close to an hour. He then examined Sophie thoroughly. At the end of his examination, he looked at us kindly and asked us if we were ready to hear her diagnosis. Yes! I was more than ready!

He said that he felt certain that Sophie had Kabuki Syndrome (we had not mentioned that possibility to him). He told us that he knew her diagnosis as soon as she walked in the room, as he has other patients with Kabuki Syndrome, and her features and presentation were undeniably “Kabuki”. Despite him feeling certain of her diagnosis on sight, he had taken the time to hear us out and give Sophie a proper examination. Unlike so many of the other doctors we had seen, he took us seriously. He was thorough and highly competent. He was happy to hear us out, and welcomed our questions. What a tremendous relief!

He explained that there is a huge variation in children with Kabuki Syndrome in terms of overall presentation and severity, and that much of the research information available was out of date. This explained why the previous geneticist had vacillated, and why the information I read had not resonated.

At the time of Sophies diagnosis, a gene test for Kabuki had only just been developed. And not all tests were coming back positive. So Sophie was given a definitive clinical diagnosis of Kabuki syndrome…meaning that the diagnosis would remain, regardless of whether genetic testing came back positive or negative.

When we returned home that evening, there was an email from Dr Coman in our inbox. Here is a short excerpt from his email….

“Dear Kath and Frank,

I hope you are well, and I do apologise for having to break the news today. I appreciate how difficult it would have been for you to hear the news today and understand that you have been on a very long road thus far.

But…there are a number of positives to come from this diagnosis. please see attached some articles, they outline that a set of children with Kabuki Syndrome can have normal intelligence!! The speech and language paper also highlights the expressive speech and language defects that these kids can have.

The positives are that, a) it’s not degenerative, b) Sophie has a lot of strong intellect pointers in her development. This, combined with a better understanding of her diagnosis, will help us obtain the allied health and school needs to maximise her potential….”

Dr. Coman also provided us with links to various websites, research papers and support groups. He told us not to be disheartened by anything we read, as what was available on the internet (at that time) could often be skewed towards the more serious end of the spectrum. I was blown away by his sensitivity, care and generosity. What doctor takes the time to do his sort of thing? None that we had encountered before, that’s for sure! I will be forever grateful for the care and compassion that Dr. Coman displayed in sending us that email. It was a beautiful ray of light at a dark time. It helped to restore my faith that there are indeed wonderful doctors out there.

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As it turns out, Sophie’s Kabuki diagnosis was to be irrefutably proven through genetic testing about a year later that showed a mutation on her MLL2 gene.

By then I well and truly knew that Sophie did indeed have Kabuki syndrome. Since receiving her clinical diagnosis, I had joined a number of social networking and support groups. including SAKKS (http://www.sakks.org), the Kabuki Syndrome Network (http://kabukisyndrome.com/about), Kabuki Syndrome Australia (http://www.kabukisyndromeassoc.com.au/), Kabuki UK (www.kabukiuk.com) and various Facebook pages. In those groups I had seen countless images of other children who looked just like Sophie, and who shared her symptoms and behaviours. I knew it was Kabuki.

Even so, I shed some tears the day we received Sophie’s official test results. It was undeniable now. This was not something that was ever going to go away. A sense of utter relief was mixed with a sense of deep sorrow. My heart felt crushed, yet my mind felt relieved and at peace.

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Sophie’s Asperger’s diagnosis was not to come for another year. But that’s another story for another day.

Before signing off, I’d like to direct anyone who is interested to an article I had published not long after Sophie was diagnosed. I was delighted to be commissioned by Practical Parenting magazine to write an article called “Finding out Your Child has Special Needs”. Obviously it is a MUCH shorter (and more sanitised!) version than what I have posted on this blog. It also has a different focus. The article was written with the intent of helping other parents to avoid some of the angst we went through in our early days. While it does contain a little information about Sophie, it focuses on helping parents who are searching for a diagnosis, dealing with the associated grief, linking into support systems and early intervention. Dr Coman was kind enough to contribute to the article, as was my dear friend and brilliant Psychologist Nikki Oughton. If you are interested, you can view the article here.

https://au.lifestyle.yahoo.com/practical-parenting/toddler-preschooler/development/article/-/13022440/finding-out-your-child-has-special-needs/

NEXT POST…EARLY INTERVENTION…SPEECH THERAPY

 

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!)

The Early Days…Feeding, Sleeping, and Other Concerns

Before I start this post I want to make something clear. I don’t intend for this blog to be nothing but a series of sad and sorry tales, full of doom and gloom. Over time these pages will also be filled with wonderful stories of joy and achievement, with tips and tricks for things that helped us through some of our difficulties, therapies we have tried, what has worked and what hasn’t worked. I want this blog to celebrate Sophie, and perhaps (hopefully) to offer some help to other special needs parents by providing information and resources on sensory issues, fine and gross motor delays, social differences, feeding issues, food intolerances, biomedical intervention etc. But I also want this blog to reflect the reality of our journey. And to be perfectly honest, the first twenty months after Sophie was born were some of the darkest days of my life. In the early days (and even now) it really helped me to read other parents’ blogs, to know that we weren’t alone in our struggles. So I choose to share and honour the difficulties of our journey as part of this blog. And I will do so unapologetically. If you want a sanitised version of the truth…pick another blog!

The next two posts are going to focus on Sophie’s early development and feeding issues, and our journey to a diagnosis. It was a not a happy time. It was a time filled with endless questions and no answers. Sleepless nights and tear filled days. After my next two posts, I will start to post about the interventions we have undertaken with Sophie, and the amazing progress she has made over time. I will still be telling “our story” (it’s the only one I have!), but I want to share the knowledge we have gained, not just the trials and tribulations.

Don’t get me wrong…I know that our journey is a marathon, not a sprint. There will be good days and bad days. Always. I’m not promising that all of my posts after the next two will be nothing but sunshine and roses. But I promise you there will be plenty of sunshine and roses too!

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So…here we go…and bear with me…things do get better!

THE EARLY DAYS

Other than the pain from my c-section, the first few weeks at home were not too bad. Sophie seemed more settled that she was in hospital. She slept for up to three or four hours at a time.

 

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Despite this, my concerns remained. She continued to have trouble latching and feeding. She was generally only able to feed for a few minutes at a time before she would fall into an exhausted sleep. She was difficult to rouse and still very floppy. Her head control was totally absent.  She didn’t seem to quite “fit” into her skin.

 

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At about five weeks, symptoms of reflux set in, and thus began what was to be more than a year of sleepless nights. She used to scream for hours every day. She pushed off the breast, refusing to feed. She slept very little. She started to wake every 45 minutes throughout the night. Screaming. Relentless, high pitched, anguished screaming. My heart was breaking for her…I didn’t know how to help. I felt like I was failing as a mother. I couldn’t even comfort my own child.

Frank and I were beside ourselves and didn’t know how to help her. We had just about every single over the counter baby medicine in our cabinet. Colic drops, wind drops, gripe water, homeopathics, baby panadol. At one stage we were syringing various things down her throat every couple of hours, hoping to hell that something, anything, would relieve her pain and stop the screaming. We went to the chiropractor. I changed my diet. We tried all of the (conflicting) advice we were given about feeding. We listened to theories about too much foremilk, too much hind milk, insufficient supply. We were told to feed her on demand, feed her every three hours, wake her to feed her, leave her to sleep. We tried it all. We went to the Queensland Community Health “day stay” unit that provides support for mothers having trouble feeding and settling their babies. Three times. We tried patting her bottom until she slept. Wrapping her. Unwrapping her. Propping up the base of her cot. Nothing worked. She seemed to be more unwell by the day. She was born on the 25th percentile for weight, and within a number of weeks had plummeted to the 5th percentile. She was failing to thrive. On top of the feeding issues, she was having up to 15 bowel motions every day…thin, runny, and stinky. She was not a happy baby.

When Sophie was less than 6 weeks old I returned to our General Practitioner begging for help. By now I had noticed about 15 minor physical anomalies, which I documented for the doctor. I also documented the feeding issues, sleeping issues, bowel issues and my concerns about her “floppiness”. I was now convinced that something really was wrong. I duly gave the list to the doctor. He scanned it briefly. But because I was obviously upset, the GP chose to ignore my concerns and focus on my mood. At my insistence he wrote a referral to a pediatrician. One sentence stating that I was concerned about my child. Three sentences describing how I, the mother was suffering from post natal depression. A brush-off letter if ever I saw one. A letter that pretty much said “I think there’s nothing wrong with the baby – it’s all in the mother’s head”. I felt a knot of anger in my belly when I read the referral, but I thought “Oh well, at least it will get us in the door”.

So off we went to see the paediatrician. Not only did the he refuse to consider my suggestion that Sophie had a genetic condition, he also failed to diagnose her reflux. At her first appointment, when she was about 8 weeks old, he sent us away saying all was well and that she was simply a slow starter. We returned when she was three months old, at which time he decided I must have a milk supply problem (and continued to ignore the other concerns I raised). In truth, feeding was causing her pain, so she wasn’t feeding much. So of course she wasn’t gaining sufficient weight. I asked if it could be reflux. More than once. He said no, it wasn’t reflux. It was a milk supply problem. So he put me onto medications to increase my supply. And then started the horrible regime of pumping milk with an electric pump. Oh how I hated it. Tears would stream as I tried to pump. I was convinced I was a failure who couldn’t make enough milk for my child. Even though I had started with a great supply. Milk spurting from both my breasts. Breasts throbbing and full after a few hours without feeding. My supply had only diminished because Sophie was feeding poorly. She didn’t have a great latch, wasn’t drinking much, wasn’t interested, pushed off the breast. She was feeding less because she was in pain, so of course my supply was diminishing. But my lowered supply was the RESULT of her poor feeding, not the cause of it.

Eventually, during one of our stays at the Community Health Day Stay Centre, a nurse diagnosed her with reflux. She said she could hear regurgitation when Sophie was trying to feed. She told us to go to the doctor that very afternoon and insist on being given Losec. She gave us her work and home number and told us to get the doctor to call her if he questioned the diagnosis. The doctor gave us the medication, and within four days the constant screaming stopped (night waking and screaming persisted for quite some time, but at last our days were more peaceful). So many months of needless pain for my darling Sophie. So many months. Reflux is hardly a rare condition, how could the paediatrician fail to pick it up?

Sophie’s feeding didn’t improve on medication, even though the screaming did. As I later learnt, this is common with kids who have experienced a lot of pain with feeding – they develop a feeding aversion. She would kick and fight me, I had to carry her around the house and keep her moving to convince her to attach. No lovely snuggly feeds for us, no lying down and feeding in bed. So much for feeding her in the sling. Such a struggle it was, Sophie still unhappy, still not sleeping. We would go out and other parents would be holding their babies, cuddling, feeding, the babies would sleep. Sophie would struggle, cry, never fell asleep in her pram. I felt like a crappy mother. I couldn’t comfort my own child. As well as feeding issues, her development seemed delayed. She continued to be floppy. She hadn’t made eye contact until she was 6 weeks old. And even then it was fleeting and infrequent. She couldn’t hold her head up until she was about 4 months old. I noticed she made lots of jerking movements with her arms and legs. She also had obvious sensory issues. She would become hysterical at the sound of the garbage truck approaching, our dog (or any dog in the neighborhood) barking, the vacuum cleaner being turned on.  She shied away from bright light. Doctors continued to tell me that she was just a “slow starter”.

 

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It was at about this time that the public health dietitian reported me to Child Services, purportedly because I was depressed and Sophie wasn’t gaining weight. I had gone to her for help, and she reported me. I had been spending hours each and every day trying to get nutrition into my child and this was my reward. I felt betrayed and sickened. I was terrified that they would take my baby away, when I knew I was fighting with all my might to get her the help she needed. Luckily I worked in government at the time, and knew who to talk to to get the investigation underway as quickly as possible. And thankfully the dietitian’s concerns were dismissed and Sophie was not taken from us.

By this point I was in a bit of a state. Sleep deprivation and stress had taken its toll. I was getting traffic tickets. I once pulled up at a stop sign and waited patiently for it to turn green. A stop sign mind you, not traffic lights. I used to come back to my car after shopping with Sophie and find the front and back door wide open, keys in the ignition. I was virtually hallucinating my way through the days and nights. I was exhausted.

When Sophie was four months old we were accepted for a week-long stay at the Ellen Barron Center. This is a special section of the Prince Charles Hospital, designed to assist parents having trouble with feeding and settling their infants. By this time, it seemed that my every waking moment was consumed with trying to get milk into her. I look back at my admission forms and don’t know whether to laugh or cry. Sophie was still waking as often as every 45 minutes through the night. I had written on my admission forms that “I know Sophie can sleep well, as she has occasionally slept for three to four hours at a stretch”. Wow. Most newborns manage at least this, often more. I thought it was good sign if my four month old could sleep for three hours at a time. Occasionally.

So off we went to Ellen Barron. About half an hour after we arrived, they hooked me up to a double electric breast pump, under bright fluorescent lights, with two complete strangers looking on to see how much milk I could produce. I was suffering from acute calcific tendonitis at the base of my thumb at this time. It was so bad that I couldn’t change Sophie’s nappies by myself, and could barely hold her well enough to feed her. My Mum had been with me the previous week as I was unable to manage Sophie by myself. I was in acute pain, which causes lowered supply, plus I was being watched by two complete strangers while some bizarre electric machine sucked on my nipples. Of course I could produce only a few mls. I felt stressed and humiliated. I couldn’t understand what they hoped to gain by trying to watch me express. Luckily I was immediately referred to an excellent doctor who gave me a cortisone injection to ease the inflammation in my hand and wrist. By the next day the pain had subsided significantly and I could once again hold my daughter. With the pain gone, pumping was easier and I could produce milk once again.

The nurses determined it wasn’t a supply problem. They couldn’t figure out why Sophie was having so much difficulty with feeding, however. And they told us they couldn’t help us with the sleeping as long as the feeding was so bad. The feeding needed to be sorted first. But they didn’t know how to help with that . Great. These are supposed to be the experts and they have no idea how to help us? Are you kidding? If you can’t help, who can? This is the center where Mums go when they’ve reached rock bottom. They were supposed to FIX IT for heaven’s sake. Were we totally alone here? It seemed so.

A couple of other things of note happened during that week. On day one, we saw the pediatrician. Sophie was screaming at the time with her usual high-pitched scream. The paediatrician seemed a little concerned. She wanted to see Sophie again the next day. During the course of the next appointment the doctor mentioned that she thought Sophie had an unusual high pitched cry, and I somehow weaseled out of her that she thought it was a possibility that Sophie had a genetic disorder called Cri du Chat. I can’t remember the specifics of what the doctor said, but I remember I latched on to this idea like a bulldog. Finally, here was a doctor who thought there was a genetic issue, and not only that, but she had an idea of what it might be.

I got straight onto the internet only to discover that if Sophie did indeed have Cri du Chat she would likely never have more than a few words, would possibly not walk until she was 7 or 8 years old, may never toilet train and would probably have a lot of behavioural problems. Well of course I lost it. I KNEW something was wrong with Sophie, and if this was it then I wanted nothing to do with it. But at the same time I latched onto the diagnosis. I was sure this was it. Finally, here was a doctor who seemed to agree with me that all was not right with Sophie. And she did indeed have the high pitched cry that is typical of children with Cri du Chat. We saw a different doctor the next day who said he disagreed with the other paediatrician’s thoughts. I became distressed. Who was I to believe? The hospital called in the he Head of Paediatrics from the Royal Childrens’ Hospital to give another opinion. As it turns out, the doctor who suggested Cri du Chat was a brand new peadiatrician. It was her first week at the hospital. The specialist from the Royal Childrens’ examined Sophie and said he felt certain that Sophie did not have Cri du Chat. He admitted she had some dysmorphic features, but said he could tell from looking into her eyes and observing her behaviour that she was not severely mentally retarded, so the chances of her having Cri du Chat were very slim. Okay so who am I supposed to believe now? We were sent off for genetic testing. I believe they agreed to the testing primarily to calm what had now become hysteria on my behalf. I needed proof that she didn’t have Cri du Chat, because by now I wasn’t about to believe anything that any doctor said. We would have to wait until we returned home to get our test results.

Before we went home, the nurses seemed determined to get me to agree to bottle feed Sophie, at least some of the time. I was desperate to continue to breastfeed, as I felt that providing breastmilk was one of the few things I was able to do for my child. The nurses made an apparently unprecedented decision. They said they would look after Sophie for three hours, so that my husband and I could leave the centre to have a “lunch date’. They suggested we use the time to enjoy each other, have some quiet time, and consider whether we were prepared to consider supplementary bottle feeding. Lunch was a strained affair, I was verging on tears most of the time, and struggling with conflicting emotions. But by the end of our allocated time I had decided I was prepared to at least try feeding her with a bottle. It went against the grain of all the “natural” parenting strategies that I felt attached to. But it seemed like we were running out of options. We returned to the centre and told the nurses we would try bottle feeding. Silent tears streamed down my face as I was shown how to prepare formula, and gave Sophie her first bottle. She didn’t take to it very well, but then she didn’t take the breast very well either.

Our stay at Ellen Barron had not provided us with any significant improvement. We went home feeling battle weary and discouraged, and on tenterhooks awaiting our genetic testing results.

NEXT POST…FINALLY…A DIAGNOSIS!

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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

Pregnancy and Birth

Sophie’s conception, pregnancy and birth weren’t exactly what I had hoped or planned for.

Sophie was conceived via IVF. I was lucky enough to fall pregnant on our second attempt (after only one full cycle, and one frozen embryo transplant). I had a small bleed at about six weeks, but didn’t miscarry. At 12 weeks, when we had our first “proper” ultrasound I remember Frank and I laughing because Sophie seemed to turn around and wave at the camera. It was a lovely moment in what was otherwise a fairly stressful pregnancy.

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I had a feeling in my gut that things were not as they should be. But I have a tendency to be pessimistic and overly anxious at times, and we were dealing with other stressful life events at the time…so I did my best to ignore that feeling. We did however decide to have an amniocentesis at about 18 weeks. The lab had trouble growing a decent cell line, which concerned me. They made a second attempt and were able to culture “just enough” cells to give us the news that we could expect a “normal” baby. That was long before I had the understanding of genetic testing that I have now. If I were to fall pregnant again I would not have an amniocentesis. There is a risk of loss, and amnios don’t actually give you much information at all. But I digress. The amnio was at least able to give us a definitive answer as to the sex of our baby. And I was absolutely delighted to discover that I was pregnant with a little girl. I know it’s politically incorrect to say this, and the correct thing to say is “I don’t mind what sex the baby is”…but in honesty, I wanted a little girl, and couldn’t wipe the smile off my face.

Unfortunately, at 26 weeks I contracted what was suspected to be swine flu. I was bedridden for about ten days.. I never really recovered from that flu, and went on to develop a terrible cough that lasted through all of my last trimester. Most days I coughed so much and so hard that I would end up vomiting several times just from the coughing. Whooping cough was suspected, but not proven. I had terrible reflux so had to “sleep” sitting up (supported by about six pillows) for the last three months of the pregnancy. For those last three months I was lucky to get four or five hours of sleep a night.

I was taken to hospital by ambulance twice in the week before I went into labour, in “respiratory distress”. One doctor stated that they would have to perform an emergency c-section to “get the baby out”. Another countered that I was too unwell to undergo surgery. Given the baby was showing no signs of distress, it was decided that the best course of action would be to attempt to get me “well enough” to undergo labour. I was given a plethora of drugs, including antibiotics and steroids, to try to clear my lungs and assist my breathing. All this after I’d studiously avoided taking any pharmaceuticals throughout my pregnancy, in an attempt to give my baby the best start in life. I was exhausted already and my darling daughter wasn’t even born yet!

With my ill health, I suppose it is no surprise that I only put on 6.5 kilos throughout the pregnancy (and I wasn’t overweight to begin with – I am 163cms tall and weighed 58 kilos when I fell pregnant, and 64.5 kilos when Sophie was born). At 38 weeks I was sent for an ultrasound as the baby seemed “small for dates”. The ultrasound showed no abnormalities, and a “normal” baby, just a little on the small side.

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My health was marginally improved by the time I went into labour at 39 weeks. The birth itself was far from the birth I had envisaged. I had hired a doula, gone through the alternative birthing centre (rather than the mainstream hospital), had my own midwife, drunk the raspberry leaf tea, attended the yoga classes, read the books on how to avoid the “cascade of interventions”, participated in hydrotherapy during pregnancy and had a labour plan and an active labour…. all in the quest to achieve a much longed for natural birth. Hah! Instead I ended up with a long and horrific labour, every intervention imaginable, and an emergency cesarean section once Sophie’s heart rate plummeted to 50BPM and failed to recover between contractions. I suppose it was no real surprise, given that I went into a long labour already exhausted and unwell. And as it turns out Sophie’s head was caught on my pelvis and failed to enter the birth canal. None of which was my “fault”. But regardless, I felt dis-empowered, and I felt like a failure. I felt like I wasn’t a real woman, and somehow not a “real” mother.

From the start things weren’t quite right. The tiny mewling kitten sound Sophie made when she was born was far from the healthy indignant cry I had expected. That was the first warning. Despite my sense of unease at the unusual sound of her cry, I remember the overwhelming sense of relief that she was born alive. Despite being covered in meconium, she hadn’t aspirated any. And her Apgars were 8 and then 9, so all seemed okay. I tried not to wonder why she sounded so different to other newborns. And why she felt so ‘floppy”. And thankfully, I have one beautiful and crystal clear memory of being overcome for a moment by a sense of complete and overwhelming love for her. I thank god for that moment, because that loving feeling disappeared pretty quickly and was not to return until she was about 9 or 10 months old.

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The attending midwife came to visit me the day after Sophie’s birth, and claimed that she had never seen such a gruelling labour in her whole thirty years of practice. She claimed that if we were in Africa it would have gone on for another three days, and both Sophie and I would have died. My doula also said she had never seen anything like it in the hundred plus births she had attended. But for some reason I found no comfort in this – in my addled and exhausted brain I decided they had told me these things in an attempt to make me feel better. I was devastated by the way the birth had gone and felt like a failure. As it turns out, the birth itself was going to be the least of our problems. But we didn’t know that yet.

NEXT POST…HOSPITAL STAY AND DISCHARGE

 

Sophie Rose

Sophie Rose. My beautiful four year old. My little ray of soul shine.

Sophie came to us with many things…purity, innocence, courage, wonder, curiosity, joy and lessons to teach.

She also came with a little something extra…Kabuki Syndrome and Aspergers.

I’ve been meaning to share our story for a long time, and for many reasons…to keep a record of our journey, to connect with other Mums who have children with special needs, to share our struggles and our triumphs, to perhaps give some hope to Mums out there on similar paths.

Enough dilly dallying…let’s get this thing started!