Introduction
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic neurological disorder which has a profound effect on the lives of patients and their caregivers. Here, you can gain insights into the course of the disease, including its symptoms, diagnosis and treatment, from the perspective of Ms. M — the caregiver of a German patient.
Interview with a caregiver
Summer is a German patient with AADC deficiency. Summer was born in 2016 and was given her name as she is the sunshine in her parents’ life. She was diagnosed with AADC deficiency – a rare, genetic, neurological condition at 18 months, but the road to diagnosis was long and complex.
Question:
Some parents feel helpless when facing a diagnosis of a rare disease such as aromatic L-amino acid decarboxylase (AADC) deficiency. Why is it so tremendously important to diagnose AADC deficiency as early as possible in affected children?
Ms M: Early diagnosis is essential in many respects for the child concerned, but also for their family. One of the most important aspects is that only a confirmed, correct diagnosis enables targeted action to be taken. For the entire family, an early diagnosis also means the chance to better plan the future, as well as to make use of the different kinds of help available. Furthermore, it means certainty, and with this comes the possibility of getting help faster.
Question:
It’s not uncommon for parents to have to go from doctor to doctor for a diagnosis of AADC deficiency. Not only does this mean that valuable time is lost, but also that their child has to undergo unnecessary examinations. Can you describe what your child had to go through before being diagnosed with AADC deficiency? What symptoms did you notice in your daughter?
Ms M: In reality, it is often the case that parents have to knock on numerous doors with their child until AADC deficiency is diagnosed. Our daughter was born in 2016. After the birth, she appeared normal and she could even support her own head. At every examination, doctors confirmed that everything was normal. However, we noticed that something was wrong with her at 3–4 months. She did not want to play or actively grasp objects. When we consulted the doctor, we were told again that this was normal and that some children are simply delayed in their development. When we switched to another paediatrician, physiotherapy was prescribed. We also noticed that our daughter did not like to be touched by other people. But if she wanted us to pick her up, for example, she screamed until she was blue in the face. When this happened, we had to call the ambulance and were taken to hospital. After a few examinations, we were reassured and told that everything was fine. Our daughter often grizzled but was not a crying baby in the true sense of the word. Until the moments when she held her breath to get attention. That went on for 18 months.
All the paediatric check-ups were carried out. Something only really became apparent at the U4 check-up (performed at 3–4 months). At first, we thought it was a vaccination injury as some symptoms started to appear after her hexavalent vaccination.
Looking back, the following symptoms were apparent:
- Abnormal range of vision, only downwards (from the 3rd month)
- Thickened tongue and open mouth (resulting in heavy breathing)
- Severe limpness (from the 5th month)
- No gripping of objects, e.g. hair or hands of parents
- Oculogyric crises (starting at approx. 1½ to 2 years)
- Abnormally blocked nose
- Significant developmental delay
- Heavy sweating
- Very thin
In order to get to the bottom of the symptoms, doctors performed many blood tests — to rule out metabolic disorders, for example — and various imaging procedures. Throughout this period, parents must attend numerous appointments, and these can disrupt everyday life. The frequent, and sometimes painful, examinations also emotionally affect children and even parents alike. On the one hand, parents would like to know what is wrong with their child, but they struggle to justify the many, often fruitless, examinations to themselves and their child.
Various examinations were performed; cerebral fluid, blood tests and MRI. The diagnosis was developmental delay. And we were told that there was nothing else that could be examined.
We saw various doctors and went to various clinics in Germany, until we stumbled upon a great doctor who performed an MRI, carried out blood tests and examined her cerebral fluid once again. For the MRI, she had to be placed under anaesthesia because the sedative was not sufficiently effective. While we were worried our daughter wouldn’t wake up, we were hoping to find certainty in her diagnosis. After being referred to another hospital in Germany to have another blood test carried out, we finally received a diagnosis of AADC deficiency. In total, it took 18 months to get an accurate diagnosis.
On the one hand, parents would like to know what is wrong with their child, but they struggle to justify the many, often fruitless, examinations to themselves and their child
Question:
Affected children and parents without a specific diagnosis are left on their own and so have no possibility of getting help from those in a similar situation, self-help groups or psychosocial counselling centres. How do affected families describe their relationship and family life during the time until they receive a diagnosis?
Mrs M: During this time, the whole family is challenged, and it is exhausting. On the one hand, there are frequent doctors’ appointments. Planning doctors’ visits and physiotherapy sessions create a lot of stress. Over time, parents sometimes feel the need to justify the many doctors’ appointments. This is difficult if tests come back negative. We do not have any other children and we deliberately decided against having a second child out of worry that this child would also have AADC deficiency.
When parents do not know why their child is not developing as they should for their age, they begin to wonder whether they are to blame. This puts a lot of strain on the relationship and leaves little room for togetherness. For as long as we had no diagnosis, we felt we had done too little or that we should have sought the opinions of other specialists in Germany.
When parents don’t know why their child isn’t developing as they should for their age, they can even wonder whether they have done something wrong themselves
Question:
What does a diagnosis do for the mental state of affected families?
Ms M: A diagnosis hits affected families hard. On the one hand, you are relieved to finally know what is wrong, no longer in a state of uncertainty. However, it is difficult to learn about what the disease brings with it. The explanation about the pathology of the disease was hard to hear. Doctors were not hopeful and told us the worst. However, a diagnosis can create relief because it means there may be the possibility of treatment.
For us, the most valuable outcome of learning of a diagnosis is that parents and their sick child no longer feel alone. There are other families who are also living with this disease and they understand how you feel. We would like to communicate with others who have been affected; since the disease is so extremely rare, it is not easy to find and connect with families in a similar situation. There is also security afforded to patients and caregivers as a result of having access to a doctor they can trust and who is on hand with help and advice. To summarise, to support other affected families both mentally and socially, you first need a diagnosis.
To support other affected families both mentally and socially, you first need a diagnosis
Question:
What can a diagnosis do for parents?
Ms M: Parents must be able to cope with the fact that a diagnosis means that their child is suffering from a progressive disease. The earlier they have the possibility of dealing with this, the better they can adapt to the situation. It is very important to be able to consciously plan for the future and this gives parents the feeling of self-determination. This includes actively structuring and experiencing time with their child. Treatment with the right medicine also makes things a lot easier but this can only be started once a diagnosis has been confirmed.
It is very important to be able to consciously plan for the future, and this gives parents the feeling of self-determination
Question:
What would you like?
Ms M: We would like to lead a normal life. I would like to reach out to other parents with children who also live with AADC deficiency and remind them that they are not alone! I would like doctors to consider parents’ concerns, and to continue to investigate until a diagnosis is confirmed.
In conclusion, Ms M. says that Summer is her total happiness and her pride.
Message from a caregiver
Ms M. would like parents of other children with a diagnosis of AADC deficiency to know that they are not alone. She would like to highlight to parents who think that their child may have the condition the importance of establishing an early and accurate diagnosis, and recommends that they keep pushing for one.
Ms M. asks healthcare professionals to persevere – using rigorous testing and appropriate referral – to secure a definitive diagnosis for every child with a neurological condition.
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