When your child has a rare syndrome, life can get very complicated and lonely. My journey began before my daughter was born. A routine scan showed that she had multiple organ deformities that meant she was deemed as incompatible with life. The normal conversation that follows such announcements can be delicately couched in such terms as ‘medical intervention’ and it slowly dawns on you that they are telling you that the only remedy they can offer is abortion. Regardless of your stance on abortion this is a shocking thing to hear. In hindsight I find the most shocking part of this conversation was not what they said, but what wasn't said.
No one ever suggested that there were groups to support my husband and I. And there are plenty of groups that can guide you through the transition of whatever journey you had envisioned parenthood to look like and the reality that now faces you.
Fortunately for Bernadette, my husband and I felt very strongly to continue with the pregnancy and face what was to come, whatever that might look like. The people who have been involved medically have for the most part been very supportive and we count ourselves as fortunate. And as you have no doubt guessed, our daughter lived and at the time of writing this is 15 years old. Our journey has not been easy, but absolutely worth it. Bernadette has Ivemark Syndrome. It is rare and as is common with rare conditions, there are a lot of unknowns. As we journey and discover what her normal is, the medical teams are also learning.
To understand our journey with Ivemark Syndrome it is helpful to have a little understanding of what Ivemark Syndrome Is. Syndrome simply means a collection of conditions. In order for the diagnosis of Ivemark to be attached, many of the following needs to be included; multiple abdominal organ displacement, heart deformity, kidney deformity, either asplenia (absence of spleen) or polysplenia (multiple spleens, in the case of Bernadette, seven that are different sizes and shapes, each attached throughout her body to a different organ). In addition to these any number of complications or problems can be associated with the syndrome. For Bernadette this includes: the parasympathetic nervous system is adversely affected; auditory processing disorder; possible neurological problems; fibromyalgia; anaphylaxis; loss of sensation in certain body functions; global developmental delay; chronic fatigue; anxiety etc.
Because of the complexity of her anatomy her normal is not comparative to how others function. Our medical team in Nelson has known her since she was a baby and have an understanding of her that has allowed them to have a unique perspective. For instance, they know that her memory is affected and that her understanding can be askew. They know that when she says she is in pain, to sit up and listen, because she will not express it as most would.
Rare conditions can mean a road less travelled. Although we share the road in parts with others who are living with chronic conditions, we also diverge onto the road less travelled simply by being delegated rare. We get lonely… because we are alone. We don't get to meet others like us. We can't look to case histories and say “Oh, so this might happen, or we can plan for this…” We are an experiment, even with the best teams, we are still an experiment. Sometimes it can be exhausting and incredibly stressful to look at what is happening and try to convey this to others. To articulate in a concise, accurate and unemotional way what is happening. How do I verbalise her life as we know it and condense it so that it is understood and not flicked off with ‘neurotic mother’ or ‘bad parenting’? For instance, why would my daughter need me to be present when in a consult? She can communicate, she is nearly 16 and she is not mentally deficient. She appears to understand and responds appropriately. But she doesn't understand, she guesses. Her memory is poor and understanding what it is you are actually asking is often beyond her. Her vocabulary is limited, she likes to please and her answers reflect that.
I remember an occasion when my daughter was in hospital because she was in severe pain, nothing could alleviate it and she was unable to eat or sleep. Because she wasn't crying the doctor didn't believe her. He smirked at me and asked my daughter “Are you feeling better now?” She replied yes. He laughed and said ‘Well, you can go home now’. I asked my daughter why she wasn't crying if she was in so much pain? She calmly replied that she was tired of crying and it didn't help anyway. I then asked if she could tell me why she felt better. She replied “Because I am in hospital and the doctors will make me better.” She was in hospital for a week and they discovered what was wrong and later required surgery in Christchurch.
Another time I was with her during a consult and when we returned home to talk about it Bernadette was extremely upset and told me that the man was rude and didn't believe her. She had a whole scenario that never happened. Fortunately I was there and able to reassure her that in fact he had tried to listen and worked very hard to understand what she needed. On another occasion I had two doctors come to me in my daughter’s hospital room each berating me for what they considered to be irresponsible. The first doctor told me that I should have known Bernadette was sick and now the infection was in her kidneys. It was my responsibility to do the dipstick test etc. She left and the second doctor walked in and said that I was making things worse for my daughter by being overly zealous and taking urine samples and testing them myself was ridiculous. This was said in spite of the fact that the test two days prior was clear and that self-testing at home was recommended by both our GP and Paediatrician.
People talk to me about her quality of life. Usually their concept of what a good quality of life looks like is based on their own expectations. But like most people we accept that there are and always will be things we cannot do. We make the most of what we have and try to improve our lot if able. This is actually normal. There have been times when Bernadette was upset that she could not do what others did. Although I accepted that she had strong feelings on the matter, I did not leave it at that. I acknowledged how she felt, acknowledged that she was different and then reminded her that some people could ride horses, but not everyone. Some people were good at maths, but not everyone.
You might think that Bernadette's life sounds terrible. But it really isn't and the best demonstration of that is on record with CCS Disability Action. She was asked to fill out a form and I wrote exactly what she said to me. She was asked about her hopes and dreams, her aspirations and her life in general. Her response was shocking to me. She bluntly said that she was too tired, too sore to dwell on such things and she didn't know if she would even live. They then asked her to rate the quality of life she had. There was a lot of discussion about what that meant. Her rating? 9 out of 10. She loves her life. She has a loving family and loves what she has. She would like things to improve, she wants strategies for life. She wants to help others and hates being called a hero or inspiration - I laughed when she told me that. But she was serious. We talked and I explained that when people say things like that usually what they are trying to express is that she helps them gain perspective. It helps them to face challenges in a positive light. And that is actually why I like to write and participate in the community at large.
There is so much I could wax lyrical on. The self-condemnation and second guessing, hours on google learning terms and names so I can have an intelligent conversation with doctors and understand what they are really saying. The do’s and don'ts when talking with medical people, how to access what you need (medicine, equipment, transport, support, Facebook groups), what an expensive friend looks like and what gold moments are.
The best advice I can give anyone is be patient, be kind, don’t judge, don’t think your experience is the same as theirs. To the parent or patient, I say this: It might not be the journey you envisioned for yourself or your loved one, but it is an amazing one that is uniquely you.
You are worth it and there is support.
Elizabeth Perrone (Mrs)
Mother of 10 (four are a welcoming committee in heaven)