Jordan and the research programme at National Institutes of health (NIH)
I took Jordan for his review in October 2010. We stayed at the Children’s Inn on the NIH campus and as usual all our costs were met by the NIH. Our main concerns were the progression of Jordan’s spinal deformities and his low platelet count. A blood test was done to inform our consultation with the haematologist and we went on our way, having appointments with rehabilitation consultants, occupational therapists etc. After a trip to the Children’s national medical centre in Washington we were called in to the clinical department as they had found a high D Dimer reading in Jordan’s blood test. The d-Dimer blood test measures one of the breakdown products of a blood clot. Due to the high incidence of pulmonary embolisms in patients with Proteus syndrome, Jordan was booked in urgently to have a CT scan and straight after to have ultrasound of his legs to see if he had a clot. I was called to the desk of radiology and was told by the doctor that they had found two clots in Jordan’s lungs and because these can be fatal, Jordan had to be admitted to Intensive care immediately. Jordan was totally freaked out and so was I. Jordan was monitored and all his vital signs were normal, he did not even have any symptoms! He was started immediately on heparin injections. Due to an infection in the hospital we were subject to strict infection control – this meant new paper gown and gloves every time I went in or out of Jordan’s room, swabs to check Jordan and no visitors! Kim, Barbara and Mary from the American PSF were “in town” but could not visit!
Jordan and I were very worried but knew we were in safe hands but Jordan was also upset that the USA Family conference was starting and we did not think we could make it. Les and Julie knew that this meant a lot to Jordan so they came up with a plan to start Jordan on warfarin tablets for his journey home and to allow him to leave ITU as soon as possible. We had an evening “pass” from the hospital to attend the welcome reception and Jordan was discharged in time to attend most of the conference. The doctors never found the source of the clots in the lungs.
Childrens Inn – NIH campus
Jordan and I didn’t get to spend too much time at the Children’s Inn this time as we were not allowed to go back once Jordan had been in ITU due to the risk of spreading germs especially to the cancer patients whose immune systems were comprised. However every time I go back to the Childrens Inn, it seems to get better each time with new facilities. Our room looked out in to the beautiful grounds with wild deer, we had French doors opening out on to a little patio too. I hope these photos get across what a wonderful place it is.
PROTEUS FAMILY AND MEDICAL CONFERENCE 2011
Given the amazing news that the genetic cause of Proteus had been discovered, this was a very important and poignant conference. There was so much for families to take in, there was emotion, excitement, sadness about those we had lost and also hope. It was a packed schedule starting with a family meet and greet on Thursday 6th October. The conference started Friday 7th October with a talk by Leslie Biesecker named “The molecular basis of Proteus syndrome”. Julie Sapp followed with her talk entitled “Momentum: Research partnerships and psychosocial challenges of Proteus syndrome”.
The last presentation of the morning was by Chris Gracey a gentleman who is trying to help people with Proteus syndrome with their shoe problems or “Pedorthic solutions for persons with Proteus syndrome: Phun with Pheet!”
The afternoon covered “Managing skin changes in Proteus syndrome” by Thomas Darling and “Educated patient healthcare and advocacy” by Catherine Blumhorst. There were also break out sessions in the afternoon where families could discuss issues with all these medical professionals in small groups. Dr Michael Cohen also joined the sessions to share his wealth of knowledge.
On Saturday 8th October we were very lucky to hear from Cooper Hoag (brother of the late Alex Hoag), Brian Richards, Abby Grealis and Jordan. They wanted to get up and say a few words about what the BIG NEWS meant to them and wanted to personally thank Les Biesecker and his team for dedicating years to finding the cause of Proteus syndrome.
Barbara Biesecker spoke about “Redirecting our narratives – coping with Proteus syndrome”. Laura Tosi talked about the Orthopaedic workshop recommendations then there were question and answer sessions in the afternoon followed by further break out sessions.
It was great to meet up with everyone again and Jordan and I had a really time.
Dean, Jordan, Kai and I were very lucky to visit my family in Australia in December. We had not been for 5 years and I had a niece and nephew that I had never seen! The journey was still difficult for Jordan, despite having no legs to worry about! The seats are not very comfy and his back really hurt, the longest flight was over 13 hours long!
Dean and I were treated to a city escape to Melbourne by my mum which was wonderful and the weather glorious
The whole family went away for 3 nights to Lake entrance and Kai got the lad hooked on Uno! Kai enjoyed the swimming pool there but we weren’t too keen on the huge huntsman (spider) that was on the wall one morning!
Dean, Kai and I enjoyed a lovely break by the sea in my mum friends beach house in Blairgowrie – my sister treated us to a day at the natural hot springs which was just fantastic!
Best of all though was spending time with family , my mum and sisters and brother in laws and Alex and Elliot, cousins for Jordan and Kai.
Jordan wants to learn to drive!
We decided to use the same driving assessment centre as Ross in Surrey. The conclusion was that Jordan should be able to drive as long as Motability will pay for the adaptations needed. We have sent off for his provisional licence then the next stage is to apply to Motability for funding. Jordan seemed to enjoy getting behind the wheel of a car!