14th July 2009
Hello Em,
I arrived home from walking (and volunteering) in France and Spain this afternoon at about 3pm. Finn and Patty came to meet me at the airport. On the way home, Finn gave me the really sad news that you had fractured your right tibia on Friday. I was really tired from the three flights home and at first I couldn't take it in. "When?" I asked. "How did it happen?"
We were all so relieved when the specialists, Dr Roos and Prof Beighton, said that there was no indication of OI in your Xrays. Just a couple of weeks ago they took you to Dr Roos for him to check your skull because the clinic sister thought your head was a little large. You had a scan done but there was nothing abnormal. Dr Roos told Mark and Tammy not to worry about your blue sclera "Children can have blue sclera up to 2 years of age" he said. I was away at the time and I must be absolutely honest with you Em, I heard alarm bells ringing. Large head, blue sclera and recurrent constipation (common in children with OI) made me feel very suspicious. I think that is why when Finn told me about your break, I was devastated but not shocked.
We went straight to your house from the airport so that I could visit you. I was sure that you wouldn't recognize me but you smiled such a big smile when you saw me that your little cheeks looked like apples!! I sang the "Emily Ann ... I love you..." song and you flapped your arms up and down! It was so lovely to see you again. All the way home in the plane I was looking forward to holding you again. I was so sad to see your leg in a long plaster cast but it is slightly bent so that you can sit and your Mom let me hold you on my lap so that I could hug you and kiss you. Mark said that you could start on Pamidronate therapy as soon as the fracture has healed and there is a possibility that you can have a lighter cast put on in 3 weeks time, if the fracture has healed sufficiently. When your Dad was little and had long casts on I always worried about him fracturing the bone higher up so we are all being very careful when we lift you or move you.
When I got home I sent an email to Bill Winship to tell him and he emailed back a very nice reply. I'm sure that if had been able to examine you he would have asked for skull x-rays to check for Wormian bones so that a proper diagnosis could be made. I don't think it would have made any difference if we'd known earlier. I don't think they would have started you on treatment until you had had a fracture so maybe its better that we didn't know earlier.
When your Dad was diagnosed with OI there was no treatment besides the orthopaedic management of the fractures as they occurred. Now at least there is a treatment and the prognosis for you is so much better than it was for him.
When Mark and Tammy got you home from the hospital where your cast was applied, they telephone Melanie Degenaar in Pietermaritzburg for advice on how to change your nappy. Melanie has a little girl with OI. Abby was born with about 27 fractures and although they were told that she might not survive past the first month, she has been on pamidronate and has only had four breaks - two when her brother dropped her on the floor by mistake!
Finn and I are both so sad that you have this disorder Em. But, we are hopeful that the treatment will help prevent any fractures in the future. And, having cared for a child with brittle bones ourselves, we will do everything we can to help you, Mark and Tammy cope.
I love you Em. You are the most beautiful child in the world and I was SO happy to see you again today.
But now I must go to sleep. I feel almost delirious with fatigue.
Bless you my precious girl.
Silly
I arrived home from walking (and volunteering) in France and Spain this afternoon at about 3pm. Finn and Patty came to meet me at the airport. On the way home, Finn gave me the really sad news that you had fractured your right tibia on Friday. I was really tired from the three flights home and at first I couldn't take it in. "When?" I asked. "How did it happen?"
We were all so relieved when the specialists, Dr Roos and Prof Beighton, said that there was no indication of OI in your Xrays. Just a couple of weeks ago they took you to Dr Roos for him to check your skull because the clinic sister thought your head was a little large. You had a scan done but there was nothing abnormal. Dr Roos told Mark and Tammy not to worry about your blue sclera "Children can have blue sclera up to 2 years of age" he said. I was away at the time and I must be absolutely honest with you Em, I heard alarm bells ringing. Large head, blue sclera and recurrent constipation (common in children with OI) made me feel very suspicious. I think that is why when Finn told me about your break, I was devastated but not shocked.
We went straight to your house from the airport so that I could visit you. I was sure that you wouldn't recognize me but you smiled such a big smile when you saw me that your little cheeks looked like apples!! I sang the "Emily Ann ... I love you..." song and you flapped your arms up and down! It was so lovely to see you again. All the way home in the plane I was looking forward to holding you again. I was so sad to see your leg in a long plaster cast but it is slightly bent so that you can sit and your Mom let me hold you on my lap so that I could hug you and kiss you. Mark said that you could start on Pamidronate therapy as soon as the fracture has healed and there is a possibility that you can have a lighter cast put on in 3 weeks time, if the fracture has healed sufficiently. When your Dad was little and had long casts on I always worried about him fracturing the bone higher up so we are all being very careful when we lift you or move you.
When I got home I sent an email to Bill Winship to tell him and he emailed back a very nice reply. I'm sure that if had been able to examine you he would have asked for skull x-rays to check for Wormian bones so that a proper diagnosis could be made. I don't think it would have made any difference if we'd known earlier. I don't think they would have started you on treatment until you had had a fracture so maybe its better that we didn't know earlier.
When your Dad was diagnosed with OI there was no treatment besides the orthopaedic management of the fractures as they occurred. Now at least there is a treatment and the prognosis for you is so much better than it was for him.
When Mark and Tammy got you home from the hospital where your cast was applied, they telephone Melanie Degenaar in Pietermaritzburg for advice on how to change your nappy. Melanie has a little girl with OI. Abby was born with about 27 fractures and although they were told that she might not survive past the first month, she has been on pamidronate and has only had four breaks - two when her brother dropped her on the floor by mistake!
Finn and I are both so sad that you have this disorder Em. But, we are hopeful that the treatment will help prevent any fractures in the future. And, having cared for a child with brittle bones ourselves, we will do everything we can to help you, Mark and Tammy cope.
I love you Em. You are the most beautiful child in the world and I was SO happy to see you again today.
But now I must go to sleep. I feel almost delirious with fatigue.
Bless you my precious girl.
Silly
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