Noonan Syndrome and Pain

Noonan Syndrome and Pain

Having just been seen by London Pain Clinic, I have been asked to write an article on Noonan Syndrome (NS) & Pain and also Endometriosis.

Noonan Syndrome is a genetic disorder

Noonan Syndrome is a genetic disorder, thus I was born with it, however, I wasn’t diagnosed until I was 17.

NS is characterised by various features such as specific facial features, heart defects, short height (although we are not all small), eye problems and many more features. ( is the website for The Noonan Syndrome Support Group)

Open Heart Surgery and Noonan Syndrome

I had open heart surgery when I was 4 for a hole in my heart (ASD), many eye, orthopaedic and gynae surgeries as well. I went to my first Noonan Syndrome conference in the USA when I was 20, I realised that I wasn’t being followed up by any doctors, and this should immediately change ( the look in the doctors’ faces when I told them I wasn’t being followed up- they were horrified!!).

Bleeding Diasthesis and Noonan Syndrome

I duly returned to the UK and got referred to a haematologist, cardiologist, endocrinologist, eye specialist and more physio. I was diagnosed with an unknown bleeding diathesis (whereby we knew I had a bleeding disorder, but tests haven’t pinpointed it). I was seen by a cardiologist who later I changed to a specialist in congenital (born with) cardiology. I see them every year and my heart is stable. I have a pulmonary stenosis, mild right ventricular hypertrophy and some mild leakage of 2 of the valves in the heart. When I attended future conferences, I came back each time and there were more recommendations to see new specialists!

Pain and Noonan Syndrome

I guess I always knew I had some sort of ‘pain’ even when I was very small. However, it’s definitely been the last 10 years that the pain has worsened.

When I was 14, my back started to get very sore, and we went to an orthopaedic hospital who did X-rays and CT scans to measure my leg lengths. I was diagnosed with scoliosis and also a discrepancy in leg lengths. I started Physiotherapy but in the end it was more massage than physio – as my therapist was scared she would do some damage as my joints were so instable (this, incidentally was the first time I had heard that being mentioned, even though I could contort my body in strange ways!!).

Some confirmed musculoskeletal findings in Noonan Syndrome include:

  • Hypermobility of the joints
  • Low muscle tone
  • Scoliosis

Variability of Pain in Noonan Syndrome

We now know that pain does occur in Noonan Syndrome patients, however we don’t know the incidence. Many Noonan Syndrome patients will have no pain, or at worst, little pain, however there are quite a few ‘Noonies’ whom I have met who do have varying degrees of pain and this has become apparent in the last few years. In time, and with further research, answers will be found.

I then moved to the UK and was referred to a Physio who worked with me for 2 years. I also went to Back School and she gav e me exercises not only for my back, but also for other joints which were painful. I also tried acupuncture which was great, but unfortunately had to stop due to severe bruising from the needles (yes, my bleeding disorder rearing its head again).

Analgesic Medication Regimen

I wrote to one of the Dr’s I had met in the USA and he wrote a letter to my GP for me to be referred to the local pain clinic. I was seen by them for a while , and we tried various drug treatments including Tramadol, Co-Codamol, Morphine tablets, Morphine liquid and Fentanyl Patches and Lozenges for breakthrough pain.

The idea with these patches, I was told, was to give baseline relief. You will never be ‘pain free’ – but you would get away from the up and down of taking pain relief every 4 hours, which I had aptly named the ‘4 hour pain rollercoaster’. These sounded GREAT! I started them straight away, after I had done a little research of my own. Gosh what an improvement!! They have given me my LIFE back! Yes, I am always in pain, but the patches give some continuity, a base whereby you can work on.

Rheumatology Consultation in Noonan Syndrome

I was then referred to a Rheumatologist whom is still one of my consultants today. She confirmed I had Instability of the joints, low muscle tone and varying painful movements. I have found Shoulder Stabilisation has really helped, I had my right shoulder done first and I am awaiting the same surgery on my left shoulder.

London Pain Clinic and Pain Management in Noonan Syndrome

I am currently on the Fentanyl patch/lozenge regimen and after a consultation with Dr Christopher Jenner at London Pain Clinic, I am just about to start Pregablin for my endometriosis/neuropathic pain.