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Re: New Members intro

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  • Kristina Canipa
    Hi there, Sorry for delay, not be on site for a few weeks. Sounds like Olivia was diagnosed around the same time as my son Finley, who was born at the end of
    Message 1 of 4 , Mar 6, 2011
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      Hi there,

      Sorry for delay, not be on site for a few weeks.

      Sounds like Olivia was diagnosed around the same time as my son Finley, who was born at the end of October.

      Finley has the same problems feeding, little and often he can take between 2 and 4 oz at a time he's such a fusser but you just have to be patient, I think its a common problem. Ive heard the same pattern follows when starting on solids, little and often!

      Oh yes there are other growth charts. I'm sure I found a link from this site (i think the site is american journal of medical genetics??) I was told that my HV should follow charts specific for achon children, and thats what she does, but mine also likes to plot on the other charts for some strange reason.

      As we live on the Isle of Man (80,000residents)Finley is the only child with achondroplasia at the moment. Are doctors and peds have little or no experience, so we where sent to AH where Dr Fryer (genetisist) gave us Fin's diagnosis. He has referred us for a sleep study to be done there also, as Fins breathing is terrible.I suppose he could of had that done in the IOM, but its better to deal with people who have had experience with the condition when your having any treatment/tests etc done.

      There are 2 specialists impaticular that I know of Dr Wright (newcastle)and Dr Wallis (GOSH) are Pediatritian couldnt answer all are questions and there is a grey area over when to have the MRI scan done. So we asked to be refered to Dr Wallis, which has now been done. He holds an achon clinic 4 times a year but you could see him in his normal clinic as they are very busy. Just phone his secretary, thats what I done.

      Finley seems to be developing quite bad "Kyphosis" (cuvature of the lower spine) which has got worse since birth, even though we make sure Fin is lay flat at all times apart from the odd acception (care seat). So I really must look into this, I believe I have to ask for a pediactric orthopedic assessment to be done?

      Basically you'll become the expert on the condition and know more about it than the doctors, the internet has been a great source of information. I have also become a member of the RGA who sent me info leaflets, they have a convention in Sep which I think Ill come over for, loads of talks/workshops and chance to ask Q's and there doing 1:1 app's with Dr Wright. You should print out the health care guidelines and give to those taking care of your daughter, this was what I was told to do ( link on this site.

      Let me know if you would like to chat over the phone If that might help, I may be able to offer some advice and visa versa!

      Anyway, hope I've been of some use. Kindest regards to all your family, take care and get in touch if you have any other Q's, my brain is overloaded at the mo so I dont mind sharing the info. x x x

      Kristy


      --- In achondroplasiauk@..., "chris_and_laura_b" <chrisbrenchley@...> wrote:
      >
      > Dear All,
      >
      > We have finally got round to joining the group, so I guess we should introduce ourselves. Our Daughter Olivia was born with Achon at the end of November, and juggling a newborn, a 4 year old and a house move has taken up a considerable amount of brain power, not to mention the emotional drain of the diagnosis. I guess that's why we have taken so long to register.
      >
      > Things are pretty good so far; Ollie was reluctant to eat at first (I see that's pretty common) but soon bounced back, putting on weight slowly but steadily. Our Health Visitor -despite our exasperation- insists on using the standard growth charts for 'normal' babies and was getting concerned that Ollie wasn't following the line! I suspect we are in for 18 years of that sort of thing.
      >
      > I ended up printing off the female age:weight chart from here:
      > http://pediatrics.aappublications.org/cgi/content/full/116/3/771
      > And plotting her weight on it myself (she follows predicted growth perfectly) but the age scale is really too large to be accurate- I wondered if anyone had a chart more specific to infants?
      >
      > I also notice that most of you are regular visitors to either Alder Hey or Great Ormond Street. Our Local is the JR in Oxford who don't appear to have a specialist- we have paeds/genetics visits next month, so I guess we will be seeking a referral from there- who do you suggest we ask for?
      >
      > Many thanks for your help, a great site and supportive community, I expect we will be back here often!
      >
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