Many years ago I met a family with a child with a disability. We got chatting and they explained their daughter’s condition wasn’t covered by any disability organisations. Their daughter lived with a rare condition which left the family without funded therapy support (this was in the days before NDIS). As I listened to the mother speak, I realised we were in fact lucky to have therapy covered by the Cerebral Palsy Alliance (then known as the Spastic Centre). At that time it was my lifeline. I’ve never forgotten that conversation with the family and over the years learned of the other ramifications of having a rare condition, including the questions left unanswered and the isolation.
Today is Rare Disease Day, and I thought it was a good opportunity to highlight just a few rare conditions/diseases by asking our readers to contribute their stories. It’s lovely to help these families shine a light on their particular conditions.
Dani shares
Tell us about your condition/disease or your child’s condition/disease.
Jakob is 7. The condition he has is CHOPS Syndrome. At present due to rarity it is unknown how many people have this condition. There is one research article written about the syndrome and this is based on a cohort of 3 children. Jakob was the 7th person in the world to be diagnosed. There is one other adult diagnosed in Australia. I’m aware of approximately 12 children, adolescents and young adults who have now been diagnosed. It is a multisystem disorder and is caused by a mutation to the AFF4 gene. This gene is responsible for complex processes that impact the timing for genetic information being expressed during the development of the embryo. Therefor many parts of the body are impacted upon by this syndrome. CHOPS stands for Cognitive Impairment/Course Facial Features, Heart Defects, Obesity, Pulmonary Involvement, Skeletal Dysplasia/Short Stature. It was discovered in 2013 at the Children’s Hospital Of Philadelphia and the first medical journal article was published in 2015. Jakob was diagnosed in 2016 through exome sequencing after many years of genetic testing.
What are the challenges of living with a rare disease/condition?
For Jakob the syndrome has had many physical impacts. As a young child he was very medically fragile. He spent much of his first year as an inpatient at the Royal Children’s Hospital in Melbourne. He was on oxygen until he was 2 and a half. He doesn’t have verbal language and his motor milestones are very delayed. He is still learning to walk. He has a PEG for fluids and lots of feeding difficulties. He is also very short and has altered limb lengths. It seems that the heart and lung/airway difficulties seem to wreak the most havoc on those who have been diagnosed with this syndrome. Early on it was extremely challenging as there were no concrete answers about what was going on for Jakob and why he was experiencing certain medical issues. Not knowing what the future would hold was not easy. Every intervention is effectively trial and error, and experimental. As a parent you have to do your own research, hold so much information about your child and advocate so strongly to make things happen for your child. It initially was an extremely isolating experience.
Where do you get support for your condition/your child’s condition?
I was lucky enough to link in with Syndromes Without a Name Australia (SWAN) and sit on the general committee for a number of years. Through this organisation I met a number of other families in similar situations. A number were further ahead in their journey’s for diagnosis and were able to assist me in knowing who to ask to make things happen for Jakob. It was through their support that we ultimately found a geneticist who worked very hard to discover his diagnosis. On a practical level much of my support has come from fellow NAPA parents. Early in Jakob’s life we started travelling overseas for therapy treatment. It was through the NAPA Centre that I first had the opportunity to meet other parents with similar challenges to Jakob. It is these parents who, via social media mainly, that I seek support from and gain the required knowledge to continue to help Jakob. The world of Facebook and Instagram has been instrumental in providing connections to other families that would not have been possible otherwise. More recently following diagnosis we have developed a Facebook group for the families around the world who have children with CHOPS Syndrome. This has been amazing. It has allowed us to discuss challenges that have arisen and even share medical interventions that have then assisted another child. We are also lucky enough to be part of the Steve Waugh Foundation family and through their events we have had the opportunity to link with others who has rare diseases.
Have you had a holiday, or travelled somewhere you/your child has really enjoyed? What made it such a good holiday?
Our holidays are mainly linked to therapy trips. Jakob has been to LA a number of times for therapy, we have done a little bit of travel around California because of this. Last year we travelled across again after a two year gap. My sister and I took Jakob to Disneyland. He had been before but he was the perfect age for it this time. It was incredible! It was so nice to be able to do an activity the same as every other family. Jakob just loved it! To watch the sheer delight and excitement that he had from going on the rides and watching the light shows was so rewarding as a parent. I think I may have even cried tears of joy at one point. He is the type of kid who shows his excitement with his whole body and it is contagious. Disneyland is pretty amazing. Using their disability services made attending a lot of the rides much easier. We still have challenges with height restrictions for Jakob but because they cater for such a wide age range there was lots we could enjoy still. The staff are incredible and they are very attuned to the world of disabilities. I hope that we will be able to take him back on his next therapy trip!
Jen shares
Tell me about your condition/disease or your child’s condition/disease.
Amelia, 7, and Sam, 4, have an extremely rare genetic mutation, ‘DNM1 genetic mutation’. The gene was discovered and linked to epileptic encephalopathy in humans around 2014, prior to that it was known only in mice. We are a small disease community, but growing with about 44 known affected worldwide, and 4 of those in Australia. Amelia and Sam make up half the Aussies!
The children we know of age from 12 months, to 27 years. We also have a huge range of abilities and challenges, almost all have a developmental delay, some can walk, some say a few words, almost all have seizures or some sort of movement disorder. Amelia and Sam sit on the more challenged end, requiring support with all tasks like eating, dressing and toileting, use wheelchairs and have significant developmental delays. Our two most challenging aspects are their sleep and movement disorders. They are able to show emotion, and whilst not saying words at the moment, they can make it pretty clear if they are unhappy, or happy. Amelia and Sam also have severe vision impairments, with a diagnosis of ‘cortical vision impairment’- the problem is with their brains processing the information, not their eyes.
We set up a Facebook group – DNM1 dynamos, and a web page – dnm1families.com to connect families. This community has slowly grown and we have families from the US and UK, as well as Norway, Singapore, Gran Canaria and South America. Within the group, there is one major group with the same variant, who make up about a third of those known diagnosed. As our group is slowly growing, we are seeing similarities in this group, and this is helpful with diagnosis and treatment.
What are the challenges of living with a rare disease/condition?
Being so rare, and so recently discovered, we struggle with our ‘pathway’. The disease has been described as life long, and life limiting. We are finding that normal treatments aren’t effective for the disease – with many of the group finding that the standard medications don’t work. We are seeing our kids move forward attain and retain skills, which is promising, and whilst progress is slow, we are moving forward.
We certainly feel isolated at times, but also welcomed by other groups with similar conditions. We have connected with GETA – a group of parents in Victoria who have joined together to ‘Get A cure’ for genetic epilepsy, and hold an extremely helpful conference once a year in Melbourne. GETA has connected other families with genetic epilepsies, who started off small like ours, and tells their stories around how to establish groups, connect, and attract research. They are a strong, motivated group of parents and seeing and connecting with other families with a rare genetic epileptic condition is really helpful, we may not be on the same path with the diseases – but all families want a cure.
For us, that will come in the form of ‘precision’ medicine, where the treatment is designed specifically for our gene mutation. This is only found by research, and research takes time and money.
Health professionals, such as doctors don’t know about our condition, and information available for both diagnostic and treatment is hard to find. The way the gene mutation works is complex, and lack of information means sometimes we feel very isolated and concerned – all new medications are like rolling the dice, we don’t know how they will react, for example with extreme lethargy, will it make their movements worse, or increase seizures. We have had trouble planning activities or fun things, if the kids get sick it happens quickly – a cold can put us out of action for a few weeks, and bring on other complications like seizures or enhanced movements. We have learned to not get excited, as things change so quickly. It can be heartbreaking to have to cancel last minute due to health, and we need to have access to a good hospital. We are unreliable, and that has isolated us a a lot.
Last year we travelled to Melbourne for a specialist appointment – packed up the van, and made the long drive. On the last day Amelia fractured her leg- pure accident from twisting the wrong way, which led to her having a few days in hospital and medically flown back to Canberra. Nigel has had two trips now in medical transport and quite the pro, and we aren’t aiming for more, despite the excellent service and views.
Where do you get support for your child’s condition?
Connecting with other families with the condition has made a huge difference. We often connect on chat, and talk about symptoms and day to day life. We have been able to share medications that work, and therapies that have worked well. We have been able to connect treating doctors globally, so they can share their insights.
On a local level, we have NDIS plans for the children. This process is universally stressful for families, especially around getting equipment in a timely manner. Rare disease families can have a rough ride, especially if they don’t neatly fall into an NDIS category. We self manage our plans which we find gives us the choice of the therapies we need to meet the children’s goals. We have to travel to Sydney or Melbourne for specialist review, but that is the case for many complex children in Canberra. Respite for children with complex conditions is very limited, if available at all, compared to the cities. Our closest is Bear Cottage at Manly who do an amazing job, but getting there is the challenge for us.
There are some universal challenges that a lot of parents of children with complex needs have – access to changing facilities being a big one now we are too big for the baby change tables, accessible activities and venues, finding activities the kids can participate in – and then support workers to help them all remain big challenges. Having two children that need wheelchairs – they can’t walk, means that I can’t just take the kids out to the supermarket, or to the park. This is hard.
The children attend a mainstream Catholic school, with 1:1 support. This was really important to us, that they had a sense of community and belonging locally. They love going to school, and the school community has embraced the children, with the outstanding kind leadership of the Principal. Having this support makes a huge difference to us, and to the kids, and it hasn’t always been this way, so we feel very lucky.
Have you had a holiday or travelled somewhere you/your child has really enjoyed? What made it such a good holiday?
Our first few years where a blur of hospitals, travel for hospitals, therapy, travel for therapy. Now things have settled, we are trying to figure out the practical side of holidays, such as suitable accommodation. The children have special beds, and cannot sleep in normal hotel beds – they fall out, or if they get stuck they can’t correct themselves so a suffocation or injury risk. This is problematic trying to find suitable accommodation. We need to have space for two wheelchairs, room to fit a commode or bath seat in the shower / bath so we can wash. We can just lift the kids, at 20 kilos, but this will become harder so soon we will need to travel with a hoist.
Plane travel is a challenge with two chair users, who can’t sit unsupported in a plane chair, and carrying bags and luggage, and if you throw toileting into the mix, it can become overwhelming.
We mainly kept our travel to around therapy appointments, so Sydney and Melbourne. Amelia loves being at the beach, she smiles so much, her little face must ache. Both kids love the water – and swimming pools are our fun time. Our most recent, and successful travel adventure was to NRMA Sydney Lakeside Holiday Park. We stayed in the accessible cabin. The park was well paved for the children’s chairs and walkers, and they had a water park/ play area for them to explore, as well as being right on the lake which was lovely and warm , and perfect for them to play in – and their first salt water experience. The cabin had ramp access, and was spacious – it was nice to have somewhere to have the space for all the supportive equipment, and for the kids to be able to explore as well, on their walkers or wheeled around. We could prepare dinner, and the kids meals. We took our own beds for the bunk room. The parking was easy to get into with the van.
We are eyeing off going to Mollymook, as they have a paved waterfront/ esplanade, and new accessible playground. The surf club in the areas hire beach wheelchairs, so we can get Amelia into the water. We have been looking at accommodation and planning how we would get what we need there – from 2 chairs, 2 walkers and beds, as well as a commode. We have to do a lot of research and planning before we go anywhere. Other families who share information, what works and tips are invaluable – sites like have wheelchair will travel are fabulous as we can hear first hand the pros and cons, as well as good pictures. It would be nice to be able to have to have equipment when we arrive – rather than pack it all in and inevitably forget something.
Having something to do with the kids is really important. Even if something says its ‘accessible’ or ‘all abilities’ we often find that there is limited activities for them to do, steps in playgrounds, services that are impossible to wheel on. Just outside of Batemans Bay is a great park for all abilities, with a two person swing. Often all the manual handling for an experience at the park that typical families take for granted leaves us pretty tired, and as they get bigger this is becoming harder. Canberra has an all abilities playground that is very popular as its fenced in, but we are limited to what we can actually do there that the kids engage with. Now we try and find something with an indoor pool or heated pool/ water as we know they love that and they get to use their bodies.
It would be nice to go somewhere as a family, for a dedicated holiday – rather than a day or two tacked onto a therapy or medical appointment. We would love to aim big, and fly to a beach holiday for Amelia, or perhaps Sea World. That’s our goal now – to create some family memories. We don’t know what the future holds, but we hope to get out there and give our little rare kids some experiences to help us all through the harder days.
Kay shares
Tell us about your condition/disease.
My condition is called Charcot Marie Tooth Syndrome (CMT for short), and it is named after three doctors who wrote papers on it in 1886. Two French doctors, Charcot and Marie, and one English doctor, named tooth! It is estimated that as many as 1 in 7,000 people could have this disorder, but have been misdiagnosed (as l was) when young.
CMT is also a recognised genetic condition; however sporadic cases are known of (as in my case) and every child born into the family has a 50% chance of inheritance. Some families may have many children affected, some may have only 1 or 2 affected. Since the mapping of the human genome, many variations of CMT have been noted.
What are the challenges of living with a rare disease/condition?
CMT is a condition that affects (mostly) the peripheral nerves (extremities) of the body. It usually begins with mild foot drop, and weakened hands. The hands and arms, legs and feet are mostly affected, with loss of sensation and weakness. It is a degenerative disease (progressively gets worse) and, over time, some are more seriously affected that others. It can also affect your skin (dryness), and in some rarer cases your voice, swallowing, and breathing.
Where do you get support for your condition?
When l was diagnosed (in 1980) there was no Association for CMT, not many neurologists had even heard of it, and many doctors had no idea of it at all! I felt alone and isolated, as no other person in my family had this condition and I figured that l must be a sporadic case. I joined the MS society and, through them, found another person who knew of CMT, l joined a group of 4 other people in 1988, and by 1989 we have formed the CMT Association of Australia – which is now a National organisation (and it contactable if anyone else out there with CMT feels isolated). I spent 20 years on the committee and then retired to work with my husband in business.
I have thankfully only slowly degenerated as, over the years, l have done yoga, weights, walking in a pool (can’t swim), and had regular massage to keep me stronger and healthier. I am in my 70’s now, and after using a walking stick for 30 years, are now using a walking frame (after a spinal fusion operation in 2011) and now a wheelchair. My motto is “Never ever give up!”. While volunteering with on CMT committee l did computer courses ar TAFE, and university (UNSW).
Have you had a holiday or travelled somewhere you really enjoyed? What made it such a good holiday?
The best holiday l have ever experienced is to the Northern Territory! What a beautiful and magical place it is. I travelled with walking stick and a walking frame, and arranged for a wheelchair to be delivered to the hotel we stayed in at first. I had arranged, through Bourkes, for a private 4 wheel drive tour of 5 days and four nights, encompassing Litchfield national park, Katherine gorge, Kakadu, and Ahnem land. We stayed in nice motels and our driver (Peter) was the best. He kept us away from crowds and we went into places were no buses ventured. The NT is so very different to NSW, the animals, the birds, the silence, the absolute beauty of it all, which brings out an emotional response in me (tears in my eyes now).
When younger, l travelled and lived in NZ and UK, l visited my sister in USA and did a 6 week camping tour of Europe, but NT wins my heart – hands down!
A family wishing to remain Anonymous shares
Tell us about your condition/disease.
The disease is called Friedreich’s Ataxia. A degenerative neuromuscular disorder that also affects the skeletal system. We attended a Friedreich’s Ataxia Research Association information forum last week in Sydney and were told that the current information they have is that 250 people in Australia have this disorder.
What are the challenges of living with a rare disease/condition?
The impact on my family was, and continues to be, devastating. It was a disease no one had known about, neither my family nor my husband’s family had any knowledge of it. It is genetic, both my husband and I are carriers of the same defective recessive gene. We have a son who thankfully does not have the disease nor is a carrier.
Both children were bullied at school on the odd occasion – the son for having a “spastic” sister, and my daughter for being “spastic”. They both had supportive school friends which they still maintain today. My daughter is 34. Has 2 degrees and was an Honours student at Macquarie Uni. She has never worked.
My daughter cannot use the bathroom on her own. Cannot transfer on her own. Sometimes cannot feel her feet or legs below the knee. She does not have the strength to push herself around in the wheelchair for great distances, cannot prepare meals or cut the food on her plate. She is losing her vision and hearing and has dysarthria, sometimes chokes on her own saliva.
She is socially isolated, could not find employment when she was capable, is now not capable of employment. Her friends understandably are increasingly seeing her less often because of work and bringing up their own children.
Her disease and it’s limitations mean we cannot be spontaneous. We need to plan ahead for days out, doctors appointments, as it takes hours to get her ready. We also need to check the weather. Extremes of weather and humidity worsens her symptoms and levels of fitness.
She has rotated scoliosis which affects her breathing and causes great pain. She has cardiomyopathy which is also a concern.
Where do you get support for your child’s condition?
We had no agency support until NDIS came in. I gave up full time work as an RN and worked permanent nights for 24 years so I could be available for her during the day, she had many sick days from school, could not attend school excursions unless I went with her. Our parents helped when they could. We saved up money to do home modifications without government assistance, used my retirement payout to purchase a wheelchair van. Now we are helped by a begrudging NDIS.
Have you had a holiday or travelled somewhere you really enjoyed? What made it such a good holiday?
We try to travel every few years. Was not a problem while she was smaller, thinner and weighed less. We were able to do all the lifting and toileting on the plane. However as the disease progresses so does her weight and lack of co-ordination. Husband and I are now in our mid 60’s and she is too heavy for us to lift. The last 3 flights were very difficult for us and flight crew to transfer her from wheelchair to aisle chair to seat. We feared someone was going to get injured. We have decided not to travel by plane with her anymore.
She enjoyed herself most in Los Angeles. We found Disneyland (and Disney world Florida) and Universal Studios the most accessible places on the earth, have had 6 visits there. The worst place for anyone in a wheelchair was everywhere in the UK.
BATTEN DISEASE
Over the years I’ve come to know a couple of families in our HWWT community with children living with Batten Disease. After getting to know these families I feel I should take this opportunity to continue to draw attention to this horrible life limiting disease. Last year we lost one of our HWWT community due to Batten Disease. Mia and her family worked tirelessly to raise the profile of the disease and to get a drug trial approved to help children affected. We were so sad to hear of Mia’s passing.
Last year we also lost our other little friend who had been living with Batten Disease. Matilda was a gorgeous little girl who we grew very fond of over several years. She was a real battler with many hospital visits but her little smile always made my heart sing.
Infantile neuronal ceroid lipofuscinosis, or as it is more commonly known Batten Disease, is a rare genetic condition. Once healthy children lose their ability to walk, talk, see and eat. You can read more about Batten and little Mia here.
I’ll leave you with some facts about Rare Diseases which I’ve copied from the Bounce4Batten Facebook page –
There are over 6,000 rare diseases that affect over 300 million people worldwide
* 8 out of 10 patients have difficulties completing basic daily tasks and rely on daily supports
* 1 in 2 rare diseases don’t have a Foundation or Research Support Group
* 1 of 2 Patients Diagnosed with a Rare Disease is a Child
* 3 of 10 Children with a Rare Disease Won’t Live to See Their 5th Birthday
* 95% of Rare Diseases Lack an FDA Approved Treatment
The challenges for people living with a rare disease and their families is immense.
And finally, I’d like to give a shout out to Steve Waugh Foundation which funds and supports many families with children with a Rare Disease.
