It’s been a busy year here at NIH and we have several exciting projects to update the PSF about.
We have been invited to submit the proceedings from the Orthopedic Conference that the PSF supported in 2007 to an international orthopedics journal. As many of you know, we have directly applied some of what we learned at that conference to many of our patients. The advance we are most excited about is the use of guided-growth orthopedic hardware (“8-plates”) to reduce the overgrowth of limbs, reducing leg-length discrepancies. We are very grateful to all the patients who donated tissue samples from surgery – these samples allow us to do our research!
Dr. Marjorie Lindhurst is one of the people who most patients never meet, but her hard work in our lab is vital to our mission. Recently, Dr. Lindhurst has been working to try to find a way to tell “Proteus” cells apart from “normal” cells. This is essential because we need to be sure that we are doing our research on cells that have Proteus syndrome, not normal cells. This “Proteus signature” will also allow us to make more accurate diagnosese and distinguish Proteus syndrome from other similar conditions. Some of Dr. Lindhurst’s preliminary findings are shown below: The picture on the left shows cells from the cerebriform connective tissue nevus (CCTN) in a Proteus patient, while the picture on the right shows cells from a patch of normal skin from the same patient. You can see how the cells from the CCTN “light up” differently from the normal cells.
Finally, we are very excited about a brand-new technology that the generous grant from the PSF has allowed us to use – whole exome sequencing. When we talk with parents about how we do not yet know which gene causes Proteus syndrome, many of you ask us: “Why can’t you look through all of the genes and find the cause that way?” We are now able to do exactly that, which is what “whole exome sequencing” means. Using this new technology, we will look through all the genes of several patients with Proteus syndrome (along with their parents’ genes) and we hope that this will help us find the cause of this condition. Each test costs about $2500 per person, so the PSF grant is a huge financial help – thank you!
Well Jordan completed his rehab for his “longer legs” with knees and feet in just one week! He can now walk with a stick or with a walking frame and has even had a go on a treadmill!
Of course he had to go shopping for new jeans, new trousers and school shoes!!!!!!!!
Jordan has done exceptionally well and is very pleased to now be slightly taller than me (I am 5 foot 3 inches) and his physio Jennifer!
Huge thanks to his physio therapist Jennifer and prosthetist Emma at RNOH. Clive for the wonderfully finished shaped legs! Also to everyone at RNOH, Mr Calder and his team, Dr Cooper, ITU, the play specialists Michelle and Zoe, the teachers (Gail, Hilary, Chez and team), Liz from the pain team, Coxen and ADU staff and everyone else who made our stays over the past few months more bearable! Also to Anna for her help with the filming last week. I haven’t mentioned everyone but take this as my personal thank you to everyone we have come across at the RNOH! There will be no stopping you when that new hospital gets built!
Thanks also to family, friends and colleagues who have been there every step of the way.
Jordan has completed his journey! Everyone has played a part. THANK YOU!
Jordan was fitted for his longer legs last week and took to them straight away! The video shows his first walk in them and with his first pair of shoes! We are back to RNOH w/c 7th June to start his second lot of rehab.
Jordan is being fitted for his longer legs (with knees and feet) on 1st June 2010 with rehab starting on 7th June at the RNOH Stanmore. Jordan is very excited and is now able to go out a buy a pair of trainers! He has no shortage of people wanting to buy him shoes that’s for sure!
Jordan has been keeping us his weight training twice a week at our local gym and is feeling really good, hardly any phantom pain and he does not get cold like he used to when he had his legs.
He went to see Chelsea recently with Colin and Adam and had a fantastic time as you see from the photo!
Will post some photos of the rehab as soon as I can
Jordan has now been discharged from rehab at RNOH and will be getting used to his “stubbies” or “little legs” over the next few weeks. Once he has mastered them he can have legs with knees and feet. He has already managed to play football, climb stairs, walk a slope and play Wii fit! Jordan has also been using weights at the gym to improve his upper body strength.
Huge thanks to everyone at RNOH especially Jennifer his physiotherapist and Emma his prosthetic technician!
Also all the doctors, nurses, teachers and play specialists!
We are back to RNOH on 16 April 2010 to get his stubbies finished off and then maybe back in the summer to get walking with longer legs. Those shoes are going to have to wait a while longer Jordan!
Jordan started his rehab on Monday and is already walking around with a frame on his “stubbies”. He can get himself on the floor and back up again. He went to the weight training gym today too. The infection in his wound is starting to get better with a second lot of antibiotics.
Jordan had his fitting on Friday (12/03) for his new prosthetic legs – these are just really short ones to start off with so he can learn to balance. The fitting went really well despite an infection in Jordan’s wound. He managed to walk along the parallel bars and wanted to do more! He was really tired afterwards and his arms really hurt. We are back at the RNOH from Monday 15th March for approx 3 weeks and I will try and get some photos for you all soon!
As you can see Jordan is doing fantastically and may be discharged from hospital on Monday (8th Feb). He will go back to have stitches out in a week or so and will return for his casting (for his two new prosthetic limbs) on 1st March. His rehab is due to start 15th March 2010. He is really glad he had the other leg amputated and is eager to get going! Thanks to everyone for their cards, texts etc
