Support Specialist: One of Many Cases

Support Specialist: One of Many Cases" 

Ruth Drimer’s background is in oncology, but it was in her last job as a lymphoedema practitioner that she first came across NF1 and saw the multiple issues that people can face with this condition.  She is based in Leeds and works within the regional genetics service boundaries supporting clinics and liaising with other specialists.  She has now been working as a Specialist Advisor for the charity for the past 5 years one of her cases is a 51 year old gentleman diagnosed NF1 in 2003 age 40 by dermatologist. Presented with tingling and weakness in all 4 limbs – MRI scans to investigate, no neurological reason found. Annual review letters sent and GP follow up.

Multiple medical problems,

·         Very complex to Plexiform back of neck and head has developed painful hard lumps

·         All over body pain, pins and needles both hands, calf pain from neurofibromas, back pain.

·         Currently under Neurologist and rheumatologist and dermatologist

·         Arthralgia

·         Lateral epicondylitis

·         Anterior uveitis

·         Ankylosing spondylitis

·         Faecal incontinence

·         Gastric reflux

·         Complex mental health problems

This is the way in which we supported him on his medical journey once he contacted us and changed his life, as a general GP would not be able to help in such a way that is needed. 

August 2013 –      Contacted service asking for help around varying medical problems.

30.08.2013           Telephone call to Joseph –needs home visit as difficult historian–

26.09.2013           Lengthy email re medical problems

14.10.2013           Email re medical appointments

19.10.2013           Email re medical problems

21.11.2013           Home visit organised –26.11.2013            

26.11.2013 –        Urgent referral to soft tissue and sarcoma MDT

26.11.2013           Email and phone call

28.11.2013 –        Contacted service – attended A/E new symptoms 

10.12.2013           Email and phone call

17.12.2013 -        Telephone call re Plexiform on foot

17.12.2013           Referral to Sarcoma MDT

19.12.2013           Seen in Complex clinic in Newcastle with Dr referral for PET scan

10.01.2014           Email re PET scan results

14.01.2014           Telephone call from Joseph re problems with pressure in ear. Advised to go to GP

15.01.2014           Referral to patient support group

28.01.2014           Telephone call re calf pain – advised to increase pain medication

03.03.2014           Email re needing help with DLA forms

03.04.2014           Home visit organised

15.04.2014           Home visit to review and help complete DLA forms

18.04.2014           T.C requesting letter for ESA

13.07.2014           Email re latest medical appointments

23.07.2014           Letter to support DLA appeal

09.09.2014           Clinic review

29.10.2014           Review in joint complex clinic wit Sarcoma team

11.11.2014           Blood results sent to Manchester

10.02.2015           Email

12.02.2015           Email and telephone call re neck surgery

27.02.2015           Complex clinic Dr Huson

27.02.2015           Referral for MRI

08.05.2015           Request for home visit for review

19.05.2015           Scan results faxed through

24.05.2015           Attended for Plexiform research

28.05.2015           Home visit

Ruth remained the first point of contact over the years and without her support the situation for the patient might have been very different. You do even face more difficulties if you are not lucky enough to be born or to live in one of the areas that are supported by our specialists. OUr helpline can help and advise in this case to find the right support for those affected by NF1