Rachael started suffering double vision and severe headaches in September 08. After an MRI it was discovered she had a large tumour inside her head. This tumour was growing from a bone in her skull and had surrounded her pituarity gland and was pressing on her optic nerves.
Rachael was then referred to Mr Patrick Statham, neurosurgeon at DCN Western General hospital Edinburgh. It was agreed that she would have transphenoidal surgery, through her nose, to discover what type of tumour it was and to remove as much of it as possible. Surgery went ahead and it was discovered she had a giant cell tumour which grew from a bone in her skull called the clivus. After surgery her symptoms eased a little.
Two weeks later her symptoms were back as bad as ever. At one point it was so bad she could hardly get out of bed, she just constantly slept. After another MRI it was discovered her tumour had regrown to its original size. It was then agreed to do another operation the same as the previous. Surgery went ahead as planned. It was not possible to remove all the tumour due to the surrounding structures
Two days before christmas 08 it was agreed that Rachael should have radiotherapy to try and stop the remainder of the tumour from growing.
Radiotherapy started on 28th January, weekdays for six weeks. At this point Rachael still had double vision, an enlarged pupil but no headaches. Rachael was still in School. She would go to school in the morning. We would pick her up at lunch. Drive the forty minutes to hospital. She would have her treatment. we would drive home. By that time it was tea time. She would then go upstairs in her room and study for her exams. Radiotherapy was tough for Rachael. Not so much at the beginning, by the end she felt horrible, sore throat, stomach, sick feeling, horrible taste in her mouth and a huge bald patch on her head.
All the above symptoms seemed to subside as time passed. Although in April 09 Rachael started to feel really unwell again. Her double vision prior to this was looking down. It suddenly got worse along with headaches. This was due to a well known side effect, delayed reaction to radiotherapy. Rachael was put on steroids to help. In May her symptoms had subsided. Double vision looking down, enlarged pupil, feeling sick and three bald patches on her head.
In June 09 Rachael had her first scan after radiotherapy. We met with Dr. Edgar, She is based at the Sick kids Edinburgh, Rachael’s oncologist. Unfortunately the scan revealed that part of her tumour had grown. Dr. Edgar thought this was due to radiotherapy swelling. The doctors had decided to wait three months then scan again.
Throughout all this time Rachael has been attending the Metabolic unit at the Western General Hospital, Edinburgh. Dr. Strachan is her consultant there. He looks after all her hormone things. After a lot of tests it was discovered that radiotherapy had fried her pituarity gland and she will have to be on steroids, hydrocortisone.
In November Rachael’s double vision had gotten worse. She had a scan which revealed that her tumour had grown again. The only option was more surgery.
We met with Mr. Statham, Dr. Doom as Rachael calls him. We discussed the options. The only way forward was a craniotomy, cutting a large hole in her head to remove as much as the tumour as possible. He went on to tell Rachael that her eye might remain closed and she could have weakness down her left side after the surgery. Dr. Doom explained that her tumour wasn’t growing at an alarming rate so he booked the surgery for 12th January 2010. He also went on to tell us that he couldn’t remove all the tumour as there were so many vital structures surrounding the tumour.
By the end of November Rachael’s speech had become slurry and she was unsteady on her feet. On 30th November, she was really unwell dizzy and knocking things over. Later that night she had a massive seizure. She was rushed to hospital, where she stayed for the week. This was due to the tumour pushing into her temporal lobe of her brain. She was put on seizure tablets and sent home. Once home she was really tired, this was due to the seizure medication.
On the 21st December we had a meeting with Dr. Edgar and Mr. Statham. Basically they told us that surgery was still an option, Dr. Edgar wanted to try this bone strengthening drug. Bisphosphonate infusion is a drug given to people with osteoporosis. They told us to think about it and decide. Through the last couple of months, Dr. Edgar had been telling us about this drug called denosumab that has shown to shrink GCT tumours. Although she has never came up with any further information.
Throughout all this all the doctors seemed to have struggled to come up with an answer to treat this tumour. They all kept telling us how rare this was.
At the beginning of January we decided to go with Bisphosphonate infusions. Rachael had three of these, monthly. It was a drip that went into a vein in her arm, it took about an hour. Rachael started having these funny turns, dizzy, hot feeling and heart pounding. We met with Dr. Mclellan Rachael’s Neurologist, she works out of the sick kids, Edinburgh. She arranged a 24hr EEG to see if these funny turns were seizure related. It turned out they were and subsequently another tablet to take.
In March 2010. Rachael had another M.R.I, this was to check how her tumour had responded to these Bisphosphonate infusions. Unfortunately it showed that it hadn’t worked and her tumour had grown considerably, so much so it was pushing well into her temporal lobe. Dr Edgar thought that because of the sudden increase in size that her tumour had turned malignant. She wanted to confirm this with more surgery, then chemotherapy. At this point Rachael was really unwell.
On the 30th March Rachael had more transphenoidal surgery. This time a biopsy. Her results showed that her tumour was still benign. So chemotherapy would not work. Rachael also started having left side weakness, her arm and leg.
Through a lot of research. I managed to contact the consultant running the Denosumab trial in Birmingham. Denosumab is a drug that is being trialled to treat inoperable giant cell tumours and had shown good results. The consultant, Mr R. Grimer agreed that Rachael would be a good candidate and asked that Dr Edgar refer Rachael to him so she may be assessed to get on the trial.
On April 22nd we travelled to Birmingham so Rachael could be assessed for the Denosumab trial. A pretty simple procedure: Blood taken, pregnancy test, physical exam and sign a lot of paperwork. All Rachael’s scans, biopsy results and referral letters were also sent.
On 27th May Rachael got her first injection of Denosumab. A small injection just under the skin. She was asked where she would like it and she chose her stomach, basically so she didn’t have to get undressed. As part of the trial she also takes calcium and Vitamin D. We travelled every week to Birmingham for three weeks, then missed a week then back again for these injections. This is called the loading dose. From then on it was monthly. Rachael was also attending physiotherapy for the weakness down her left side.
After three months Rachael was scanned to check the effectiveness of this drug. The results showed that her tumour had shrunk by 1.4 cm. Pretty impressive. Another three months later and another scan her tumour was shown as stable. Throughout this treatment her left side weakness has gotten slightly better, her speech and her balance has improved. Rachael still has double vision, an enlarged pupil and gets tired very easily. Unfortunately she still suffers from seizures. These seizures hit Rachael hard, leaving her exhausted for a couple of weeks and they tend to knock her confidence.
Initially we were told that the trial would only be for one year. We were told recently that Rachael would be able to stay on the trial as long as she is benefitting from Denosumab. Which was great news, as throughout all the treatments she has received this is the only thing that has worked. Rachael has constant follow-ups from all her consultants, oncology, neurology, endocrine, M.R.I and neurosurgery. Of course her treatment every month.