Remembering the beginning...(Part One)

As we rapidly approach the one year mark of Ryley being on the Ketogenic Diet, I have been busy reflecting on the journey that is Wolf-Hirschhorn Syndrome.

For those who never got to read Ryley's first blog, you are probably unaware of the whole diagnosis process that we undertook. So I thought I might revisit the beginning and reflect on what has become our very beautiful life.

Ryley was born at 40 weeks. I had spent the previous two weeks in hospital with pre-eclampsia and was being closely monitored. The doctors were reluctant to induce me before my due date because Ryley was 'small for dates'. I was finally induced and after a very traumatic birth (even thinking about it still makes me want to cry), Ryley Jack arrived into this world on the 5th Febuary 2002. He weighed 6lbs 7ozs and was 49cm long. Not so small after all!

Right from the start, we had trouble with attachment and breastfeeding. Ryley couldn't ever latch on and suck, so I was being 'milked' (single most humiliating experience of my life) so that he could get my colostrum. I was forced into comp feeding him with formula because his blood sugars were low, and this was the first instance were I felt like I wasn't a very good mother (the first of many).
I recieved very little support with breastfeeding and this is disappointing. I did continue to express milk for him for 8 weeks, at which point I switched to formula. This was because he was throwing up much of the milk I managed to express and he wasn't growing.
I would love to see more support for mums who have difficulties with breastfeeding. Particularly for those who have a child with a disability. I hope I can one day provide that support.

While we were still in hospital, during one of the routine checkups, a doctor noticed that Ryley was missing his red reflex in his right eye. Ryley also had hypospadias. So began our journey with the medical profession. A world we had, so far, no knowledge or real contact with.
Our first experience of a specialist was horrible. He was an eye specialist, and basically told me that I must have done something during my pregnancy that has meant that Ryley would be blind in his right eye.
Way to go doc.
Turns out you got that one wrong.
I didn't go back to him. Instead I sought the opinion of a very expensive, but very excellent opthamologist at the Royal Children's hospital who reassured me that I didn't cause the problem with his eye, that it was more likely to be part of an overall syndrome.
Syndrome.
Um...ok.
Well at least it wasn't my fault right?

Ryley has something called Persistant Hyper Plastic Vitreous (PHPV) in his right eye, which basically means part of it hadn't formed properly. He also had a cataract in it, and a tear-shaped pupil. At the age of 4 months he had his lens removed to help release pressure. He is completely blind in that eye. His pupil is slightly smaller than his left one, but both move together and because he has always been blind in that eye, he doesn't know what he is missing out on. He does have trouble with depth perception though, which has only really become a problem now that he is walking.

At age 4 months we saw our first Paediatrician. He ran chromosome tests and the results showed that Ryley "had extra material on chromosome 4". That was it. There was no other information. The geneticist couldn't tell us much either really. So we still had no answers.
By this stage, Ryley was classed as Failure to Thrive and developmentally delayed. I was made to feel like it was my fault.
At the age of 10-11 months we saw a gastroenterologist who started treating him with reflux medication and diagnosed severe Gastro-Osophaegel Reflux Disorder. This is something that he still has, and is still medicated for-6 years later. We also saw a dietician who told me to keep persisting with the solids and that there was nothing more I could do.
This was despite me taking him to emergency departments several times because he hadn't drank or eaten for whole days at a time. He was so so tiny, yet no one ever seemed concerned.

Even though we had started seeing a new paed and various specialists at the RCH, no one had been able to tell us why Ryley was the way he was. It still felt like it was all my fault. Yet that gave us hope to, that maybe if we were better parents, that he would be fine.

When Ryley started having frequent seizures at around 13 months, I pushed to see a neurologist. I had seen the seizure activity for a long time, but it had always been brushed off as being a startle reflex. Finally I got someone to listen to me, and by 18 months Ryley started on his first seizure med, Epilim. When he started his seizure meds he was having a seizure a minute. That seemed like a lot at the time. But now we know they can get a lot more frequent than that!
Developmentally, Ryley was still delayed, but he was rolling and sitting and had a handful of words. He lost all his words when the seizures were at their peak. The only one he has ever gotten back is "mum".
Our neurologist (who we still see!) thought that Ryley presented with the features of a someone with this rare syndrome called Wolf-Hirschhorn Syndrome. It was a chromosome 4 syndrome. He felt it was worth getting FISH testing done and for both me and David to have the testing done too.
We agreed.
The testing came back to show that Ryley had a microdeletion on chromosome 4 in the critical region for Wolf-Hirschhorn Syndrome. The extra material was from chromosome 8.
David's chromosomes were all clear and normal.
Mine weren't.
I have a balanced translocation of chromosome 4 and 8.
It explains everything.
So it was my fault after all.

Ryley was 2 years old when he got his diagnosis.
We finally had an answer that explained everything.
Finally.

After 2 long years of not knowing, not understanding what we were doing wrong, we finally could start to understand WHS and Ryley a bit more.
It was the beginning of the next part of our journey.

I haven't even covered half of what happened during those first two years. But this is just a little insight into how things evolved for us. I hope to continue writing about our journey over the next few months-there is lot's to write. Please ask any questions, I would love to answer them!

Before I finish up this blog post, I am pleased to say that my Mum has come through her second operation well. A full body scan and bone scan has been done to check for more cancer and it has come back clear! So that is great news. Now we just wait to see what treatment she will have and will continue to support her through it!
Thankyou to everyone who has supported us all so far. It means the world to us!

Comments

  1. Wow - thanks for sharing that. I am one of the people who hasn't heard the story from the beginning! I can totally agree with being "milked" as a humiliating experience! What a great idea to offer support to breastfeeding SN mums....problems is at the beginning we don't usually realise that the child has special needs that are causing the feeding problems...we just feel like failures.

    Also had to say what is it with eye doctors blaming the parents??? I have had an eye doctor ask me whether I drank alcohol during pregnancy (as a cause of optic nerve hypoplasia)...um no...my daughter has a perfectly healthy twin so I can prove it wasn't anything I did!

    Great to hear your mum came through her surgery too.

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  2. just found your blog, I am praying for your family!

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  3. Thanks for sharing so much of yourself with us Anna. I love reading your blog.

    take care
    Bec

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  4. Alison-I know what you mean about not knowing your child has SN in those early days. I guess that means more support full stop for breastfeeding would be good hey?

    Thanks Courtney and Bec xx

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