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Charity & advocacy

Why care for carers?

This advertorial was written and paid for by PTC Therapeutics, Inc. and is aimed to be of interest to parents, patients, healthcare professionals and academics interested in the burden of care for children with rare diseases.

Complex, severely disabling childhood disorders take a huge toll on caregivers, as shown by first of a kind quality of life (QoL) data for the rare neurotransmitter disorder, AADC deficiency.1.

It is difficult to really understand how emotionally and physically demanding it is to care for a child with a life-limiting disease that not only requires 24-hour care, but one that is so rare that only those caring day-in-day-out for a child living with the disorder can truly understand. How do you manage having every waking moment consumed with tending to your child’s most basic needs, often while bearing their pain and distress? To have to visit as many as 24 doctors just to get some answers or a diagnosis? Then to live with the threat that your child will be taken too early by a common complication? 

At this year’s Virtual ISPOR North America 2021 Conference, PTC Therapeutics presented the first data detailing the impact of providing care for people living with the ultra-rare neurological disorder, Aromatic L-Amino acid Decarboxylase (AADC) deficiency, which can present with similar symptoms to cerebral palsy. 2.

AADC deficiency – a severely disabling and fatal paediatric neurotransmitter disorder 3,4,5,6

AADC deficiency is caused by mutations in the dopa decarboxylase (DDC) gene.The condition decreases AADC enzyme activity, which in turn leads to a lack of key neurotransmitters, such as dopamine, impacting development, motor skills, growth, function, cognitive and language skills, and behaviour.3.

The condition typically presents from three to six months with hypotonia (low muscle tone), oculogyric crises (seizure-like episodes that cause the eyes to roll up in the head and can last for hours) and autonomic dysfunction (e.g., excessive sweating)7. In the patient quality of life data reported at ISPOR, the level of motor function ranged from having no motor function at all to being able to take a few steps without support.1. Most children with AADC deficiency were completely dependent on their caregivers for all aspects of their lives.1. Caregivers also reported a range of symptoms like gastrointestinal symptoms, sleep disruption, and excessive crying.3. One mother of a 7-year-old said: 

​He can’t sleep, and his eyes are just wide awake, and the frustration is all over his face, you can definitely tell that he has a lot of discomfort.” 8.

What does it mean to spend every waking hour caring for a child’s every need?

As with so many rare diseases, there is an underestimation of the colossal impact endured by a family caring for a child with AADC deficiency. To help understand the burden, PTC sought insights from twelve caregivers from Italy, Portugal, Spain and the United States via online questionnaires. 

These data, presented at ISPOR, found that the primary carers for children with AADC deficiency spend on average 13 hours per day, or 90 hours per week caring for their child’s basic needs, like washing, dressing and feeding, as well as providing much-needed comfort and emotional support.1. Time spent varied but ranged from 56 to as many as 140 hours per week.1. In addition, primary carers also spend an average of 15 hours a week planning activities or travelling to and attending appointments related to the child’s condition.1. This means an average total of 105 hours per week, or 15 hours a day, of care, leaving barely enough time for sleep, let alone anything else.1.

For most, the burden cannot be shouldered by one person alone, with more than half of the caregivers (55%) needing additional help, paid or unpaid, to supplement the care they were providing their child.1. The unpaid support usually came from a partner who provided, on average, 37 hours of help a week.1. If families hired additional support, it was provided by a registered nurse or training nursing assistant who provided, on average, 27 additional hours of help.1. 

The knock-on effect for caregivers is huge, affecting every aspect of life. 75% had to either reduce their working hours or stop work completely in order to care for their child.1. Caregivers are challenged to find time for themselves, even just to take a shower, let alone exercise or socialise. 

Several participants in the study described how being a caregiver had a substantial impact on their emotional and physical wellbeing, with reports of depression and anxiety, as well as back pain and lack of sleep.9. These caregivers expressed a feeling of fear for the future. 8.

Seeking a diagnosis for AADC deficiency – a long and winding road

The low awareness of this rare disease means that the journey to diagnosis can be extremely challenging for patients, with some having to travel extensively, sometimes outside of their home country, to receive the correct diagnosis. For parents, the financial and emotional implications of navigating a complex diagnostic journey while also caring for a very disabled child can be extremely distressing.

Results from the study presented at ISPOR, showed that caregivers saw between 1 and 24 clinicians or experts before finally getting a diagnosis – a process that took an average of 19 months from the first symptom being acknowledged.1.

We need to value the experience of carers

Previously, researchers have compared caregiving to being exposed to a severe, long-term chronic stressor.10 Whether physical, social, mental or financial, the burden of looking after someone with a rare disease, like AADC deficiency, is substantial and and it is therefore important that this is given due weight when considering the overall disease burden.

ISPOR – the Professional Society for Health Economics and Outcomes Research – is an international, multi-stakeholder, non-profit organisation that aims to improve healthcare decision making through scientific research.

EE/AADC/UK/21/0026 | Date of preparation: May 2021 

About PTC Therapeutics, Inc.

PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC’s ability to globally commercialize products is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us on www.ptcbio.co.uk and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.


References: 
1. Buesch K, Williams K, et al. Caring for an Individual with Aromatic L-amino Acid Decarboxylase (AADC) Deficiency: Analysis of Reported Time for Practical and Emotional Care and Paid/Unpaid Help. Poster presented at Virtual ISPOR North America 2021 Conference.
2. Chien YH, et al. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. Mol Genet Metab. August 2016;118(4):259-263.
3.Wassenberg T, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.
​4. Hwu WL et al. Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. JIMD Rep. 2018; 40:1-6.
5.Himmelreich N, et al. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12-22.
6. Chien YH, et al. Lancet Child Adolesc Health. 2017;1(4):265-273.
7. Pearson TS, Gilbert L, Opladen T, et al. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis. 2020;43(5):1121-1130.
8. Williams K. et al. Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency: A qualitative study. Poster presented at Virtual ISPOR North America 2021 Conference.
9. Skrobanski H, et al. A qualitative study on the impact of caring for an individual with aromatic l-amino acid decarboxylase deficiency (AADCd) [Abstract] ISPOR US 2021.
10. ScienceDirect. Caregiver Burden. Accessible at:  https://www.sciencedirect.com/topics/medicine-and-dentistry/caregiver-burden. Accessed May 2021.

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