Many of our community know the difficulties that come with a diagnosis process, the roller coaster of emotions and the hours of feverish research as we try to make sense of the terms, typical prognosis and management strategies. What if, knowing that your child has health or developmental issues, despite many medical appointments the specialists cannot give you that name of a disorder? What if your child has a genetic disorder so rare and unique that they may be one of only two children known to have it in the whole world? How would that feel? Where would you go for support? SGPC spoke to Louise, the South Glos rep for SWAN, Syndromes Without a Name who told us about her experience and how finding SWAN was a huge turning point for her.
Tell us about your son.
My beautiful son has global developmental delay, epilepsy, sensory processing disorder and a heart condition. Not many people are aware that global developmental delay is not a diagnosis in itself, it is a term given when a child doesn't meet at least two developmental milestones in all areas of development. The causes behind why a child may not be described as having Global developmental delay can be wide and varied, my son has a gene mutation of the MecP2 gene, we know this but we do not know what this means for him in the short and long term. There is only one other girl known to share this genetic mutation. New genetic mutations are discovered all the time.
It is hard to imagine what it must have been like for you. Tell us your journey to this point.
I have good support from the school and from the health visitor but initially when he was a baby it was so hard as nobody listened. My sons was I knew he was unwell and there were issues as I have other older children. I would take him to appointments for scans and tests and nothing would be detected at this level, the tests would return normal. I knew in my heart that despite the results there was an issue, but I was getting no help and was being looked at like an over anxious parent. The neurologist suggested that I was looking for something that wasn't there, I began to doubt myself and got to the point where I was wondering whether I was imagining things, maybe the neurologist was right. It wasn't until a trip to the emergency department in the middle of the night one evening that I was finally taken seriously and we started to get the investigations we needed.
That must have been so stressful. Were you able to enjoy your baby?
For the first two years it was so hard to find joy and enjoy our baby. There was so much stress, so much worry and so little sleep. We were trained in resuscitation as he would stop breathing, we now know this is something to do with his epilepsy but because at the time a cause could not be detected, to go home with the training was all the hospital could offer. It was so scary. I spent a number of years sleeping with the lights on and being terrified of falling asleep and not being ready to help. If I fell asleep I would wake up panicked and had to check that he was still breathing. There was a time when he stopped breathing and I found it really hard to put into action the training, I was just running around the house with him panicking. Training and the real thing are really very different, you can't really prepare for it.
You mentioned that the neurologist's assumptions about your instincts were not very helpful. Did you experience anything similar from any other health professionals?
It is hard for people to understand that not knowing what is 'wrong' is so very hard. There are a couple of occaissions I can think of. Once when we were in the NICU unit and my son was being tested for a metabolic disorder. I was so hopeful we might have an ansewr that when the consultant returned to say the tests were normal, I just burst into tears, she kindly put her arm around me and said "that is a good thing". I didn't want my son to have one particular disorder or another I just wanted an answer, that was the reason behind my tears, but it wasn't understood. A similar incident occurred when we got the results of an MRI scan, my disappointment at hearing yet another test could not tell us anything was really obvious and a junior doctor again said in confusion "but this is a good thing", they didn't understand that it isn't a good thing to have no answers, to not know how to help or where to go for help, advice or information is so hard emotionally. I was in despair.
Without a diagnosis what barriers are there?
A diagnosis is so important. It can give you an idea of what issues you may face now and in the future, if more is known about something there are strategies and tried and tested approaches. It can give you better understanding when it comes to family planning and it means that GP's have a point of reference when new health issues crop up. At SWAN we have family within the UK who cannot access hospice care support within their geographical area as to meet the criteria you need a life limiting diagnosis, this child's condition is so rare it is unknown, it is serious and they are often in hosital in intensive care but they don't have a diagnosis so cannot access the hospice care they need. Not having a diagnosis can have a huge impact on family and care. SWAN has made such a difference to me and my family, that is why I do what I do with SWAN. I am really passionate about it. We can get that vital information to families. We are having a great Undiagnosed Genetic Conditions event on the 8th of June 2017 10am - 2pm. Families will be sharing their experiences and we will have representatives from the West of England NHS Genomic Medicine Centre and Clinical Genetics at University Hospitals Bristol. Talks will cover genetic testing and why it takes so long, what it is like raising a child with an undiagnosed genetic condition and an update from the 100,000 Genomes Project.
We always ask, what is the most unhelpful comment you have had from someone about your child?
There are so many it is hard to choose! There was the time that we received confirmation from a specialist that our son doesn't have peripheral vision, and they told me not to worry "you don't miss what you never had".
If you could time travel, what advice would you give yourself at the start of your journey?
That is a really touch question. I would say, trust your instincts and have faith in them, don't allow yourself to be made to feel that it is all in your mind. Your instincts are correct.
Tell us about SWAN
SWAN stands for Syndromes without a name and is the only UK support group specifically for this area. There are approximately 6 thousand children each year born with conditions for which there is no diagnosis. SWAN is ran by Genetic Alliance who work to improve the lives for families and children who are affected by genetic conditions. SWAN provides information and support and lots of fun activities.
What do you offer in South Glos?
We have regular stay and play sessions at Hop, Skip and Jump and regular coffee meets for support. We have days out every so often, we have been to London Zoo and to Longleat and are planning a return trip to Longleat soon and we have a balloons for children initiative.
Thank you so much for talking with us. How can families contact you if they would like the support of SWAN?
I(Lousie James) can be contacted on the email: firstname.lastname@example.org and I am happy to be contacted with any SWAN related queries.