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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