What’s rare is not always beautiful
The mother of two children with rare conditions on the joys and challenges the conditions have brought into everyone’s lives
In 2014, our son Ethan was diagnosed with a rare condition called paediatric autoimmune neuropsychiatric disorder associated with streptococcal infections, known by the acronym Pandas. The following year, our daughter, Autumn, was diagnosed with a different, but also rare, condition known as 22q11.2 deletion syndrome (also referred to as DiGeorge syndrome or VCFS). We knew nothing about either condition before diagnosis and now probably know more about both conditions than most doctors in the country.
In 2012, aged just three, our son developed strange tics, rolling his eyes and clenching his fingers. The doctors could not explain it and his symptoms continued to develop. By age four, the tics or chorea-like movements were so bad that he couldn’t walk straight or eat or drink properly without jerking. Ethan also developed severe anxiety and OCD, which escalated so much that we were afraid to have a conversation with him for fear of saying the wrong thing and setting him off into meltdown. He was afraid of everything and we had to remove all pictures from his room and even his bed covers from his bed. He couldn’t wear certain clothes or underwear because of the pictures on them.
We saw many specialists – including paediatricians, neurologists, psychologists, psychiatrists. Each one would ask about his history, his birth, about complications, of which there were none. I remember saying at the time, “if you were asking me this about my daughter it would make more sense” because the questions were more relevant to her.
After 15 months of symptoms, we finally got a Pandas diagnosis for Ethan from a neurologist in Our Lady’s Children’s Hospital, Crumlin, which unfortunately was relocated shortly afterwards. We had such hope having received a diagnosis but, unfortunately as with many rare conditions, there was little or no understanding of the condition in the medical and psychiatric community and no protocol on how to treat it. Worse still, many in the medical community consider Pandas controversial. Some doctors turned us away, not even willing to take a referral; most were very cautious and, even if willing to help, were not sure how. Then there were those who simply did not believe, as if it was based on some sort of religious belief rather than science.
Months after his diagnosis our son had received no treatment, so I decided I had to take action to spread awareness of the condition and immediately set about organising a medical conference, bringing Pandas experts from the US and Denmark to Dublin.
It was a hectic time for the family, a lot of focus was on our son and the conference, but I also noticed some subtle behavioural changes in our daughter. Once a very placid child, she began having tantrums, became anxious, started counting numbers in her head and even displayed some tics-like symptoms, bending her hands, blinking strangely and kicking her legs up behind her. My heart sank, thinking that she too had Pandas. Knowing the battle we would face again if she did was so disheartening.
At the conference, I was relieved to meet a couple of doctors in Ireland who knew about it and had been treating Pandas patients for some years. It finally felt like we were making progress and we were able to get appointments for our son. I brought my daughter along to one of the appointments and described her symptoms. The neurologist didn’t think hers was a case of Pandas but noted that she looked sick and immediately referred her to a paediatrician, which would eventually bring us to our second rare diagnosis.
Our daughter’s birth was a little more memorable than her brother’s, for all the wrong reasons. During labour Autumn’s heart rate dropped and suddenly there was concern for her wellbeing. The room quickly filled with medics scurrying about and ensuring her swift delivery. To us she looked perfect and my husband went to call the grandparents with the happy news. While he was gone I was asked whether I taken drugs or drank alcohol while pregnant, which I had not, and strangely enough whether I recognised my daughter. Shortly after birth she was taken and spent her first days in an intensive care unit, where at one point she stopped breathing. After three days, she was given the all clear and sent home with us, much to our relief. She was very tiny and spent the next two years under the care of Temple Street Children’s University Hospital having numerous and varied genetic tests and appointments before being discharged. She had many chest infections as a child, slight asthma and had problem with constipation, pains in her tummy and generally looked unwell, but overall she was a little trooper who just got on with things.
During 2015, the paediatrician to whom she was referred arranged a schedule of tests for Autumn including cystic fibrosis, growth hormone and further genetic testing. Life was very busy for us going from appointment to appointment with both children. Sometimes appointments clashed and my husband would have to take one child and I would take the other. All this time we were dealing with Ethan’s symptoms that we had not yet got under control
Awareness is vital to making their lives a little easier; better understanding of these conditions will lead to improved medical support, psychiatric support and support in school to enable our children and children like them to strive
and we were still fighting hard to get the correct treatment for him.
In November 2015, we eventually got a high-dose antibiotic for our son that was to be key in bringing his symptoms under control. The same month, we got a call to say our daughter had a genetic microdeletion called 22q11.2 DS, a condition she was born with – she was now eight years old. Our world was sent into disarray yet again with a new condition we had never heard of, with one small consolation being that doctors could not deny its existence. 22q11.2 DS is a missing piece on the 22nd chromosome and brings with it 180 different symptoms affecting almost every system in the body: heart, palate, kidneys, immune system, brain. It is the most common syndrome after Down syndrome. No two people living with the syndrome will have exactly the same symptoms.
We have spent the past year going from appointment to appointment assessing how the syndrome affects Autumn – cardiology, immunology, ENT, palatal assessment, the list goes on. There is no cure for her condition but symptoms can be managed. We have navigated through these appointments, mainly ourselves, with great guidance and support from 22q11 Ireland, a voluntary charity set up by determined mothers of children with 22q, headed up by Anne Lawlor.
Our lives have changed inexplicably in the last few years; our worries used to be about creche fees, traffic jams and negative equity. Now we live in rented accommodation, I am unable to work full-time due to the extra appointments and care required by our children, and every penny we have is spent on their health. I feel sad when I see other families organising their busy lives around their children’s extracurricular activities when ours are organised around our children’s medical appointments, 32 and counting so far this year. It is fair to say that we are consumed by our children’s rare conditions. I spend my time reading medical research articles and sharing them with other parents and doctors at every opportunity, even when they may not appreciate my enthusiasm. It’s a lonely place; our children’s often invisible conditions make it difficult for others to understand.
Our son’s health is such a delicate balance that his symptoms can exacerbate at any time. We are always watching, waiting, assessing and mostly guessing what is the right thing to do next. Doctors don’t have the answers for us. I am forever hopeful that he will come out the other side of all this relatively unscathed as he grows and his immune system develops, but there are no guarantees. Our daughter’s diagnosis is permanent. Different issues may arise at different times in her life, both physical and psychiatric, and we are not sure what the future holds for her. Like all people living with this syndrome, life will be a little more challenging for her to navigate but we will be there to help her reach her full potential.
So when I say “what’s rare is not always beautiful”, that is no reflection on our two beautiful children, it’s a reflection on these rare conditions that make their little lives more difficult and have robbed some of their childhood. Rare means having to work harder and fight harder for treatment, support and benefits. It means having to educate everyone as you go – doctors, teachers and friends. Awareness is vital to making their lives a little easier; better understanding of these conditions will lead to improved medical support, psychiatric support and support in school to enable our children and children like them to strive.
That’s why I’m here putting my family in the public eye and writing this… with plenty of optimism for a great future for our children.
Some doctors turned us away, not even willing to take a referral, most were very cautious and, even if willing to help, were not sure how. Then there were those who simply did not believe
Karen Cafferky and her husband, Joe Hurl, with their children: Ethan, who was diagnosed with a rare condition called paediatric autoimmune neuropsychiatric disorder associated with strep infections (Pandas); and Autumn, diagnosed with a different, but also rare, condition known as 22q11.2 deletion syndrome.
Left and above right: Karen and Joe have been working to raise awareness of their children’s rare conditions