It is nearly 4 years since Harriet was last seen by the genetics consultant Dr. Mohnish Suri and his team, at the Nottingham City Hospital. Back then we thought genetic counselling was simply talking about living with a child that had some unknown genetic or undiagnosed condition, but we quickly realised this was not the case.
It was March 22nd 2010 - Dr Suri and his team had looked at all the data collected from countless blood tests, MRI scans and Chromosomes tests, to name but a few, but nothing really gave them any clues as to what Harriet was suffering from.
We told Dr.Suri that Harriet`s three brothers and one sister at the time Harriet was born had not suffered from any disabilities or had developed any form of genetic mutation or deterioration. We had also looked further down the family tree on both sides of the family and we were unable to find any members that had suffered the extreme disabilities that Harriet had from birth.
Having seen Harriet deteriorate so quickly since she was born and trying to adjust to living with a child that had so many disabilities was extremely hard to comprehend and one thing we felt very strongly about was stem cells. We told Dr.Suri that Lesley was pregnant, our intention was to harvest the blood core stem cells and place these into a bio bank storage facility, until such time we could find someone to transplant them into Harriet.
Dr.Suri told us that there was a possibility we could have another child like Harriet, there were no tests to check for what Harriet had, as he himself did not know what was wrong with Harriet and gave us a percentage of 10 – 15 % chance of having another child like Harriet.
We were both took onboard his comments, but this was not going to change how strongly we felt about collecting the stem cells, in order to try and save Harriet`s life.
One thing the meeting did highlight, was the extreme scoliosis or curve in Harriet`s spine, Dr Suri was extremely concerned by this and had referred Harriet to see the brilliant spinal surgeon Michael Grevitt.
This referral proved to be key to Harriet`s survival, as we found out from Michael Grevitt that Harriet`s scoliosis was life threatening, as it was not only crushing down onto her lungs, but also crushing her heart.
After a very difficult meeting in August 2010, with Michael Grevitt and the rest of Harriet`s medical team from the Queens Medical Center in Nottingham, I was finally able to convince them that without the operation Harriet would simply die a terrible death.
A date was set for October 1st 2010, this was the life saving Scoliosis operation that only a handful of spinal surgeons in Europe could perform, and we were given no assurances, but were told by Mr. Grevitt that he would do his upmost for Harriet.
The life saving scoliosis operation took over eleven gruelling hours, but had gone to plan, Harriet now had the spinal rods in place that would keep her alive and allow her lungs to develop.
Over the course of the next few years we continued to take Harriet to see Michael Grevitt for her spinal reviews, Dr. William Whitehouse for neurological problems and Professor Harish Vyas, who looked after Harriet`s respiratory system.
In a meeting with professor Vyas in May 2013, he had asked us whether Harriet had been back to see Dr.Suri and the genetics team.
We both told him that we had not had any contact with Dr.Suri since he referred Harriet to see Dr. Grevitt, back in March 2010.
Professor Vyas told us that alot of work had been done in the chromosome field over the course of the last few years and that if we were happy, he would put in a referral for Harriet to go back to see Dr.Suri.
February 24th 2014 – we took Harriet back to see Dr.Suri, but this time it was at the Derby Royal Hospital, it felt very strange, almost as though we had come full circle on a catalogue of events that had kept Harriet alive.
Dr.Suri looked pleased to see Harriet and wanted to get a clear understanding as to what she had been doing over the course of the last few years, he had his medical notes from our last meeting, together with data he had collected from the Queens Medical Center and Royal Derby Hospital.
I told him about the scoliosis operation and how this had saved Harriet`s life, I wanted to say thank you for referring Harriet to Dr.Grevitt, but there were so many questions I had for him and simply forgot to say it.
Dr.Suri asked about the birth of the child after Harriet and whether there were any problems.
I told Dr.Suri that Lesley had a normal child in October 2010; we had collected the stem cells from our new son Michael, which were now in Nottingham Bio bank storage facility. It was also important for us to tell him that we had a further child after Michael; she was called Elizabeth and was also doing well.
Dr.Suri told us that he was pleased the children had been born without any genetic problems and then started to pencil them into the family tree on his sheet.
As we went over Harriet`s medical history, the seizures Harriet started to suffer from in June 2013, were brought up in the conversation, he wanted to know how many she was having and how they first started.
We both told him that they came out of the blue and that Harriet`s neurologist Dr. William Whitehouse, had initially put the first couple of seizures down to a possible viral infection. It was not until Harriet had a third and then fourth seizure, that this was then ruled out and Harriet was then sent for an EEG, which confirmed Harriet was now suffering from seizures.
Dr.Suri pulled up all Harriet`s MRI scans, he told us that he had studied these for many hours, looking for possible genetic clues as to what is causing all Harriet`s problems. He went onto explain that the investigations on an MRI scan from neurologists in Great Ormond street hospital in London, had shown that Harriet had a bulbar palsy, but did not know what the cause of this was.
Alot of this information had been hard to process in the early years, but as time had passed, we both started to understand alot of the terminology in relation to brain structures and what the consultants were talking about, all thanks to Google.
I asked Dr.Suri about the recent MRI scan, as this had shown an improvement in the amount of white matter Harriet had grown ,which is something the neurologists told us what important.
Dr.Suri may not have been a neurologist, but there was no pulling the wool over his eyes, he had a clear understanding of the brain and how it all works, he was not as optimistic as I was and I could see in his eyes that he wanted to tell me something negative.
Dr.Suri went on to give Harriet a thorough examination; he looked at her tone, eyes and overall development. He moved onto Harriet`s back and told us that she still had a significant curve, but where do you draw the line he said.
I was expecting some negative feedback, as this is something consultants do, it’s almost as though they can`t help themselves and pull out the stick of doom.
I quickly dismissed this comment and explained to Dr.Suri, that Harriet had only had an X-Ray on her spine a few weeks ago and that Dr.Grevitt was happy there had been no movement in the rods that kept her spine in place.
Dr. Suri then started talking about the chromosome tests Harriet had in 2009, he told us that although these tests came back normal, they could only test for certain faulty chromosomes at that time. He told us that it would be a good idea to give Harriet a Genomic microarray (Array-CGH) test.
Genomic microarray (Array-CGH) is an advanced technique in genetic testing that detects copy number changes in a person’s chromosomes. This means it looks for where there are deletions (bits missing) or duplications (where there are extra bits) in your DNA that would not be identified using conventional microscopy-based chromosome analysis (Karyotype). Such tests are now becoming more widely available in the NHS.
Dr.Suri told us that once we had signed the consent form for Genomic microarray (Array-CGH) test, that we should have the results back within a few months.
Dr.Suri then started telling us about a genetics study called Deciphering Developmental Disorders (the DDD study). He told us that (the DDD study) was designed for patients with undiagnosed developmental disorders. From 2011 – 2014 all of the UK NHS Genetics services will be working with scientists at the Welcome Trust Sanger Institute (WSTI) to apply cutting –edge genetic approaches to try and improve opportunities for children with developmental problems like Harriet.
Dr Suri told us that he wanted Harriet to be part of the (the DDD study), as she currently has an extremely rare genetic disorder, one that he had never seen before. He went on to say that this study would involve samples being taken from Harriet, myself and Lesley , all of which would be sent off for testing, but it could take a number of years before we had the results.
I told Dr.Suri that we would like Harriet to have both tests and would sign the relevant approval forms as soon as we had them.
It only seemed right to approach Dr.Suri about the Stem Cells, as the only thing that was stopping us finding the right person, was some form of genetic diagnosis, as we already knew which parts of the brain were affected.
Dr.Suri had some knowledge of stem cells, but was by no means an authority on the subject, he was very cautious in his response – telling me that alot of the stem cell treatments were of the blood rather than the brain.
I told Dr.Suri that I had done alot of research into stem cell transplants and that I understood there was a difference between stem cell transplants that could possibly cure blood disorders and those that may regenerate tissue of the heart or brain.
Dr.Suri thought that the stem cell transplant to the brain would be very intrusive and that it would be almost impossible to get this done with the United Kingdom.
Again I already knew this and told him that we were looking at the United States of America and possibly China, as these countries not only had the technology to this, but had alot less red tape.
Dr.Suri acknowledged what I was trying to do for Harriet and seemed a little more optimistic about the challenges we had ahead of us.
As I left Dr.Suri`s office, I felt as though new doors were about to open for Harriet and we were now getting a step closer to the stem cell transplant we have waited for so many year`s.