While continuing our relentless search for answers, we began to put early interventions in place. Sophie started physiotherapy and speech therapy through the Queensland Public Health System. We were assessed for occupational therapy services. We started nutritional intervention and biomedical intervention.
We were referred for various investigations. Sophie had her head and spine x-rayed, bloods taken and her urine tested for metabolic disorders. She had her faeces tested for microbes and malabsorption issues. We had several visits to the audiologist (resulting in surgery to have grommets placed), a visit to the ophthalmologist, a visit to the paeditric dental and cleft palette clinic at the Royal Childrens’ Hospital, several visits to the gastroenterologist and some follow up appointments at the Child Development Clinic at the Mater Hospital. She had another short hospitalisation after having what turned out to be a febrile seizure.
For many, many months, it was common for us to have three or more appointments each week. In her first year and a half, Sophie had more than 150 appointments in total.
We saw Genetics Queensland (the public hospital genetics service) when Sophie was about 12 months old. They agreed that there seemed to be something wrong. They said it might be genetic or it might not. The one genetic disorder they did mention (Ectodermal Dysplasia) didn’t account for her developmental delay. I knew they were looking in the wrong direction. But at least they recognized that something was “off”. They told us to come back in 12 months, when they might be able to tell more based on how she was developing physically and mentally. I felt relieved that someone agreed that Sophie might indeed have some sort of genetic issue. But I couldn’t just sit back and wait another 12 months for answers.
We went to a private geneticist when Sophie was 15 months old. This was the first time that we were to hear of Kabuki Syndrome. During the course of the appointment the geneticist admitted that he was somewhat baffled, but that she had some physical features that made him believe Kabuki Syndrome was a possibility. I had already come across Kabuki Syndrome during my endless hours of “Dr Googling”. Even though it was only a three years ago, there was not much in the way of research or clinical information out there at the time. Most of the research papers talked about children with fairly severe intellectual disabilities, and semi-dwarfism. This didn’t match what I knew of my daughter, so I had moved on to searching for other answers. When this doctor mentioned Kabuki as a possibility I got straight back onto the computer, and still didn’t think it was the right fit. As it turns out, the geneticist wrote us a letter ten days later saying that on consideration he believed that Sophie did NOT have Kabuki syndrome, as she was developing “too well” for a child with that diagnosis. So I put Kabuki aside, and continued to search for answers.
When Sophie was 20 months old we finally got a definitive diagnosis. It happened almost by accident. I had taken Sophie to the hospital with a mystery rash. Our GP had not been able to identify it, so I had taken her to the hospital. The attending doctor in the ER didn’t recognise the rash either, so called the Head of Paediatric Emergency Medicine, Dr Herd. He took a look at her very, very thick file. He took the time to read through the contents. He talked to me and examined Sophie thoroughly. He even noted some additional features I had not noticed as being “different”– such as her short broad fingers. All in all he spent about forty five minutes with Sophie – which is a long time in an emergency department. At the end of our chat and his examination, he told me he thought it was certain that Sophie had some sort of genetic disorder. Finally I was really being heard…by Dr Herd no less. The irony was not lost on me.
Dr Herd said we needed to get to the bottom of it sooner rather than later, and referred us to a decent pediatrician. At Dr Herd’s request, we were seen within a fortnight. The pediatrician referred us to an excellent geneticist, Dr David Coman . My hero. My angel. One of those rare practitioners who genuinely cares about his work.. A practitioner who knows his craft well, yet never forgets that he is treating people, not just “patients”. “Dave” (as he introduced himself) also happens to be a paediatrician and a metabolic physician. So we had all our bases covered.
Dave carefully read all of the information I provided to him. Three full pages about Sophie’s development, behaviours and physical symptoms that I had meticulously collated over the preceding months. Unlike other doctors, who had chastised me for “googling” too much, or barely cast a glance at the information i prepared, Dr. Coman was grateful for the groundwork I had put in. If you find a doctor who is irritated by you “googling” to try to find answers – find another doctor! Google has been, and continues to be, a valuable source of information for us. Just dont believe everything you read. Similarly, if you find a doctor who isn’t interested in looking at any background material you have prepared – find another doctor!
Dr. Coman spoke to us for close to an hour. He then examined Sophie thoroughly. At the end of his examination, he looked at us kindly and asked us if we were ready to hear her diagnosis. Yes! I was more than ready!
He said that he felt certain that Sophie had Kabuki Syndrome (we had not mentioned that possibility to him). He told us that he knew her diagnosis as soon as she walked in the room, as he has other patients with Kabuki Syndrome, and her features and presentation were undeniably “Kabuki”. Despite him feeling certain of her diagnosis on sight, he had taken the time to hear us out and give Sophie a proper examination. Unlike so many of the other doctors we had seen, he took us seriously. He was thorough and highly competent. He was happy to hear us out, and welcomed our questions. What a tremendous relief!
He explained that there is a huge variation in children with Kabuki Syndrome in terms of overall presentation and severity, and that much of the research information available was out of date. This explained why the previous geneticist had vacillated, and why the information I read had not resonated.
At the time of Sophies diagnosis, a gene test for Kabuki had only just been developed. And not all tests were coming back positive. So Sophie was given a definitive clinical diagnosis of Kabuki syndrome…meaning that the diagnosis would remain, regardless of whether genetic testing came back positive or negative.
When we returned home that evening, there was an email from Dr Coman in our inbox. Here is a short excerpt from his email….
“Dear Kath and Frank,
I hope you are well, and I do apologise for having to break the news today. I appreciate how difficult it would have been for you to hear the news today and understand that you have been on a very long road thus far.
But…there are a number of positives to come from this diagnosis. please see attached some articles, they outline that a set of children with Kabuki Syndrome can have normal intelligence!! The speech and language paper also highlights the expressive speech and language defects that these kids can have.
The positives are that, a) it’s not degenerative, b) Sophie has a lot of strong intellect pointers in her development. This, combined with a better understanding of her diagnosis, will help us obtain the allied health and school needs to maximise her potential….”
Dr. Coman also provided us with links to various websites, research papers and support groups. He told us not to be disheartened by anything we read, as what was available on the internet (at that time) could often be skewed towards the more serious end of the spectrum. I was blown away by his sensitivity, care and generosity. What doctor takes the time to do his sort of thing? None that we had encountered before, that’s for sure! I will be forever grateful for the care and compassion that Dr. Coman displayed in sending us that email. It was a beautiful ray of light at a dark time. It helped to restore my faith that there are indeed wonderful doctors out there.
As it turns out, Sophie’s Kabuki diagnosis was to be irrefutably proven through genetic testing about a year later that showed a mutation on her MLL2 gene.
By then I well and truly knew that Sophie did indeed have Kabuki syndrome. Since receiving her clinical diagnosis, I had joined a number of social networking and support groups. including SAKKS (http://www.sakks.org), the Kabuki Syndrome Network (http://kabukisyndrome.com/about), Kabuki Syndrome Australia (http://www.kabukisyndromeassoc.com.au/), Kabuki UK (www.kabukiuk.com) and various Facebook pages. In those groups I had seen countless images of other children who looked just like Sophie, and who shared her symptoms and behaviours. I knew it was Kabuki.
Even so, I shed some tears the day we received Sophie’s official test results. It was undeniable now. This was not something that was ever going to go away. A sense of utter relief was mixed with a sense of deep sorrow. My heart felt crushed, yet my mind felt relieved and at peace.
Sophie’s Asperger’s diagnosis was not to come for another year. But that’s another story for another day.
Before signing off, I’d like to direct anyone who is interested to an article I had published not long after Sophie was diagnosed. I was delighted to be commissioned by Practical Parenting magazine to write an article called “Finding out Your Child has Special Needs”. Obviously it is a MUCH shorter (and more sanitised!) version than what I have posted on this blog. It also has a different focus. The article was written with the intent of helping other parents to avoid some of the angst we went through in our early days. While it does contain a little information about Sophie, it focuses on helping parents who are searching for a diagnosis, dealing with the associated grief, linking into support systems and early intervention. Dr Coman was kind enough to contribute to the article, as was my dear friend and brilliant Psychologist Nikki Oughton. If you are interested, you can view the article here.
NEXT POST…EARLY INTERVENTION…SPEECH THERAPY