The Challenges of Parenting a Child with a Rare Disease

Brett | Jun. 13, 2017

Parenting is never easy but the unique longitudinal demands of having a child with a rare disease places large emotional, physical, financial and social demands on parents and caregivers. What can exacerbate these demands is a lack of adequate emotional and practical supports, resources, education and understanding from friends and loved ones.

A Baby is born with a need to be loved; and never outgrows it – Frank A. Clark

Emotional Stress

Many rare diseases manifest early in life; some are even diagnosed in utero. For parents of children whose disease triggered an early delivery they may face weeks or even months of having their child cared for in Neonatal Intensive Care Units (or NICU). The NICU can be a scary and challenging time – seeing your child hooked up to life saving equipment, being monitored by medical staff 24 hours a day and in many cases not being able to touch or hold your child as they are being maintained within a humidicrib. 70% of mothers following NICU experience PTSD and the majority of all parents experience anxiety. Some hospitals offer onsite counselling or chaplain services and it can be a positive and healthy experience to utilise these resources. Debriefing with a trained professional or even just a friend or family member during the NICU experience can reduce the intensity and duration of PTSD and anxiety symptoms once your child has been discharged from hospital and allow the parents to meet the coming months with a ‘clean slate’.

91% of primary caregivers of children with a rare disease in Australia are the mother. This inevitably means that many of the emotional, physical and social stressors discussed in this Blog impact women/mothers most of all. Whilst women are generally more likely to seek counselling or other forms of emotional and physical support than men there is still a large percentage of mothers caring for diseases such as Noonan Syndrome suffering from anxiety and/or depression. Currently 37% and 41% of rare disease caregivers in Australia are actively treated for depression and anxiety respectively. The real numbers of parents/caregivers having mental health issues may actually be higher as not all people seek help. On the other hand it is encouraging and satisfying to know that approximately 40% of caregivers are receiving professional care and support to assist them and their family.

A phenomenon that can magnify these ill feelings is the internalisation of ‘guilt’ that comes with having a child with rare disease and the reluctance in allowing oneself to ‘grieve’ their child’s loss. ‘Loss’ in this context can mean a loss of function, loss of how they perceived their child would be and the life goals and desires they had for their child that they may never now achieve. It is important to acknowledge these feelings if you are having them and realise they are perfectly ‘normal’ emotional reactions to such a diagnosis and that you’re not a ‘bad’ person for having them. Again it is important to discuss these feelings with your partner, family, friends or a mental health professional – someone that won’t judge you and listen empathetically. Non-acceptance of the diagnosis and not discussing issues such as these can ironically prevent parents from moving forward and these parents may subconsciously limit their expectations of their child’s abilities. This is a terrible outcome as the longitudinal data suggests the vast majority of Noonan Syndrome children reach age appropriate levels of function by adolescence and that early intervention is critical in reaching these outcomes sooner.

Some parents also feel guilt for having passed on Noonan Syndrome as 28% of parents with rare diseases ‘passed’ them onto their children. Again this reaction is perfectly normal and understandable and these parents need to me heard, comforted, counselled and supported. These parents should take heart in the fact that support and medical services for Noonan Syndrome are improving all the time and that diagnosis is nobody’s ‘fault’.

Sadly 30% of rare disease caregivers in Australia receive no family supports. Poor family function and lower levels of social supports are associated with higher levels of anxiety, hostility and depression. If there are no familial supports nearby it is essential families look to friends, government or non-government support agencies and even internet support groups such as Facebook for support and encouragement.

Caring for children with a rare disease also impacts other family members – especially siblings. 54% of parents feel guilty as they say they can’t attend to the needs of their other children. This is not a surprising finding and there is a lot of research about the implications of caregiving on other siblings. The research highlights the need for parents to endeavour to find support or respite time so they can have some ‘one on one’ time with the other sibling(s) to alleviate these feelings of guilt and improve their relationships. Positive things to note are that siblings often have better and more meaningful attachments to their brother or sister with rare disease than other siblings as they inevitably play a role in caring for them too and this can promote bonding.

Another casualty of caregiving can be marriages and relationships. 73% of parents say rare disease has negatively affected their relationship with their partner. This is not surprising given the physical, emotional and time demands of caring for a child with a disease. Thankfully there is no concrete evidence of higher divorce rates within couples caring for rare diseases and anecdotally many couples say the diagnosis brought them closer together as they supported each other. Organising respite care or sitting services so that parents can have a ‘date night’ regularly is encouraged as it allows couples to be a ‘couple’ again – even if just for one evening a month. Counselling is also a good idea should couples be finding the demands of caregiving is placing their relationship under stress and they fear separation or divorce.

There are many emotional stressors with rare disease but the constant throughout them all is that it is important to feel your emotions and verbalise them in a caring and supportive environment – be it family, friends or a mental health professional. The NSAA encourages all parents to seek help when needed and remember – asking for help isn’t a sign of weakness. It’s a sign you’ve been too strong for too long.

Financial Stress

Rare disease can also create financial stress. 45% of parents say they are not coping financially with the demands of their child’s disease with payment for medical care being the number one concern. Financial worries are not surprising given 45% of primary carers don’t earn income often due to the time demands of caregiving. It can be very hard to find paid work that can fit around medical appointments, school hours and familial demands. 38% of primary caregivers had to reduce working hours or quit working altogether to care for their child. 29% of couples had to have the working partner increase their work hours or find other work to cope financially.

All of these financial demands add another layer of emotional stress – worry. Worry about bills, payments and affording the best possible care for one’s child. For families feeling these burdens there are strategies available such as online budgeting tools as well as government and non-government agencies that can provide payments, grants, donations and respite care to help alleviate some financial demands.

Social Cost

Caregiving can also affect social supports and friendships. 58% of caregivers say their friendship circle has diminished since their child’s diagnosis. The time demands of caring may mean parents miss friend’s birthdays and other significant social occasions. Time demands also make it hard to meet in person or contact friends regularly via email, SMS or on the phone. This is worrying as 46% of caregivers feel socially isolated and lonely. These feelings can begin to manifest themselves as anxiety and/or depression as discussed earlier and this can lead to poor health and familial outcomes.

75% of caregivers have no contact with other parents caring for the same disease. This is where social media groups or community networks can be of great benefit. It is extremely beneficial to talk to others who are in a similar situation to oneself and these support groups can be a source of new, supportive and life-long friendships. The internet has made the world a smaller place and finding other parents caring for rare disease or community groups has never been easier.

Support and Resources

37% and 34% of caregivers receive no support from government or non-government agencies respectively and 61% are desperately in need for information of services available to their child. 42% are desperate for information on their child’s disease specifically. 83% of parents found online resources such as the NSAA website the most helpful source of information about their child’s disease. The NSAA works with people all over the world to get best practice and management guidelines to parents and their children’s teachers, doctors and specialists.

35% of caregivers are in desperate need of respite care. There are government and non-government services available for respite in the community and although applications can be time consuming and the paperwork exhausting it can provide a valuable service which will allow parents time to care for other children, work part time, study or even god forbid – rest!

36% of caregivers need a school that can cater for their child’s needs. Schooling requirements can be daunting – procuring physical resources such as modified seating, desks, IT equipment as well as securing Educational Assistance Funding and adequate in-class support. There are resources for educators on the NSAA website and government agencies that can assist in this area. Early intervention is critical and having these issues sorted as soon as possible can give your child the best chance of academic success.

42% of parents don’t have access to social supports or parenting support groups. Again, social media and community networks are of the utmost importance and can provide much needed support, knowledge, care and friendship.

The emotional, physical, financial and social stressors and challenges of parenting a child with rare disease can at times seem daunting and overwhelming. However if one was to talk to parents of children with rare disease there is one sentiment you will hear again and again: “I wouldn’t change them for anything”. Regardless of the challenges and concerns involved with rare diseases every child is unique and brings much joy, love and laughter to their family and loved ones. Parenting is a unique journey; your child doesn’t need you to be perfect or to have the solutions to every problem. They just need your time, attention and most of all… your love.

In closing, if there is any way in which the NSAA can help you please don’t hesitate to contact us and wish you all the best with your child:

Perhaps it takes courage to raise children. – John Steinbeck, East of Eden

Useful links:


NSAA on Facebook:

Noonan Syndrome Foundation Support Group (USA):

Noonan Syndrome Support Group (Australia):

Commonwealth Respite and Carelink Centres:

Variety Organisation:

Genetic and Rare Disease Network Respite Services:

Caregiver Action Network:

Beyond Blue:

NDIS Inforamtion:

Centrelink Carer Allowance:

Other Centrelink Payment Entitlements:

Counsellor Directory:

Subscribe to our blog