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!)

8 thoughts on “Searching for Answers

  1. Your post almost had me in tears – and I this I’m stoic at the best of times. You raised an excellent issue about mothers being labelled as anxious, depressed and therefore any concerns, dismissed. My referral to have one of my children’s hearing tested was, “Mother thinks he can’t hear.” But he always behaved so well and followed social cues, so not even the preschool knew. Sure enough – moderate hearing loss both ears and ongoing literacy challenges now. Not even close to the challenges you have had with dear Sophie, but just relating to the patronising attitude to mothers and a leap to assume that we are somehow impaired. Sleep deprived, admittedly, but nonetheless intelligent, capable women!
    Thank you for sharing.

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    • I wasn’t aware that one of your children has some challenges too. It’s a tough road, isn’t it? So sorry you had to go through that. I really think that there needs to be more effort spent on building awareness amongst care providers….It’s something I want to put some time towards at some point. I used to think we were just really unlucky, but the story of fighting for a diagnosis is one I have heard over and over again. It makes me sad and to be honest angry too. Mums don’t need to deal with unhelpful care providers when they are already struggling with their child. Hugs xx

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  2. Hi Kathy
    Just a quick note to let you know I am following your blog. Your story (so far) brings me completely mixed emotions, but mostly an empathy and at times utter outrage for what you have endured. You are so strong to be sharing all the intimate details of your struggles as we all have weaknesses but we generally bottle them up and hide them from the world. I hope that your voice reaches anyone who has had or is having similar struggles and gives them a sense of self assurance that they are not at fault and the knowledge that persistence and a positive outlook reaps the rewards in the long term. Wouldn’t it also be fantastic if health professionals were to read your blog and were able to implement better procedures to protect people in vulnerable times, not ostracise them.
    For me your blog gives me perspective. April and I have been incredibly fortunate in the health care she has received from the moment she was born, and although our own journey has been far from easy, it has generally been assisted and supported through various health professionals. I can’t even imagine how I would have coped if I had been faced with similar circumstances as yourself. Having a special needs child is difficult enough without having to continually justify yourself to health professionals due to their inadquacies, not your own. I look forward to reading more of your story soon. xx

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    • Thanks for taking the time to comment Kate. Writing this blog is bringing up a mix of emotions for me too. I definitely believe that health professionals should receive more training and information to encourage them to listen to mothers. I have plans to get involved in this sort of education/ advocacy later down the track. I’m glad you had good support with April.

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  3. I think it’s great that you have started this blog. I also have a kk. i have been surprised to find that I can’t actually bear to read the posts, literally. It’s still all too raw. From the parts I have read I think we had similar early experiences. But when we were early in a diagnosis I would have loved finding this blog, and I keep it bookmarked so that when things aren’t so raw I can read it. Keep up the writing.

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    • Thanks for taking the time to comment Lucille. How old is your KK? i hope you have found your way to the various support groups and Facebook pages? if not, let me know and i will post info here for you. come to think of it, I should probably put links to the various support pages on here. I’m sorry you are finding that you can’t bear to read this right now. I do understand. It has taken me years to write this and I have been surprised at how much emotion it still brings up for me to write about the early days. I do hope you will come back and visit when the time is right for you. You may find it easier to read once I get through this phase and start to write about therapies etc. Hugs to you.

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  4. Your story with Sophie sounds do familiar!!
    Our daughter Jordan too struggled with nursing,
    She had something….but what was it? 26 years
    Ago the internet was even MORE limited than
    What you had available. Until she was 7 did we
    Ever hear the phrase, “Kabuki Syndrome”
    Until she was 25 did we get the diagnosis….
    Through the test developed! I included her blog
    So you can hear her story from a Kabuki adults
    Point of view!! Sophie and Jordan sound very similar !
    Jordan’s strength has come through her suffering
    And through her faith in God!
    God Bless you!

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    • So glad to see you here Barb. Thanks for reading. I have been following Jordan’s blog…she gives me so much hope for Sophie’s future. You are obviously a close knit family and you have done a great job of raising an amazing woman. I wish you guys lived in Australia!

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