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.1 Due to the broad spectrum of symptoms and functional issues associated with AADC deficiency, most individuals require life-long care.1
Up to 71% of patients with AADC deficiency are completely dependent on their caregiver, 18% partially so, and only 11% reported complete independence.2 Additionally, caregivers report needing to provide constant supervision, administration of medication, frequent hospital visits, loss of work and sleep disruption.2,3
Caring for a patient with AADC deficiency results in a substantial burden of care;1 here, we provide some insight into the lives of caregivers from their own perspective.
The Poulin family experience
In this video, Richard and Judy Poulin describe life with AADC deficiency. Their daughter, Rylae-Ann started showing symptoms around 3 months of age. Listen to their journey to diagnosis and the experiences of living with a genetic rare disease diagnosis.
My name is Richard and my name is Judy. Today we will discuss the challenges we faced as a parent and the journey our daughter Rylae-Ann took to eventually reaching a correct diagnosis. We will explain the challenges we face and then met needs associated with not having a diagnosis. Then we will outline the experiences related to misdiagnosis. Finally, we will conclude with the importance of testing and promptly reaching the correct diagnosis.
I do not fault our doctors they acted with the information that they had and provided our best to support our daughter. However, the misdiagnosis and having no diagnosis came with consequences. Our goal is to help provide more insight to support future AADC deficiency families with quick diagnosis.
Initially, we began by describing the symptoms we saw to our doctors. From our verbal conversations, our daughter was first diagnosed as having epilepsy. This would only be one of a series of diagnoses we received over 5 months until being told “we don’t know”.
During this journey our daughter submitted blood, urine and cerebral spinal fluid. She had brain scans and was hooked up to various machines. Everything that was tested came back normal based on what we were searching for.
We wanted to do the test. But at the same time we didn’t want to have our daughter to be poked and sedated. Even just arriving at the hospital caused anxiety attacks and non-stop crying. To complete the test, we had to hold her down or use medications to calm her.
With testing coming back normal or inconclusive it meant our observations were critical. There was a key observation that Judy kept mentioning. Despite receiving a diagnosis for epilepsy, it did not match what we were seeing at home, specifically the seizures that we saw did not match the descriptions about what we read or what other parents in the epilepsy community were telling us.
Later, we learned they were called oculogyric crisis or OGCs for short. But we wouldn’t learn this until much later. They came every 3 days and would last several hours. We could briefly snap her out of it, but once she cried we know it was over.
Although we described these observations to the doctors, the media we collected and notes we took better helped doctors understand. We saw our daughter every day in various conditions, while the doctor saw her during short appointments.
Judy took notes every day about every detail she could. Asking parents to keep a journal and to document with pictures and videos can help. While searching for answers and visiting the doctors over concerns of spells, Rylae-Ann was also admitted for RSV, lung infection and feeding issues. We could have reduced or even eliminated these hospitals emissions with a correct diagnosis and treatment plan.
Another challenge was not knowing how to care for our daughter properly. The consequence was the delay in therapy. We thought she was having seizures, we were afraid to go outside or to do any physical activity and fear triggering an attack.
When we went to the ER for the first time we weren’t even sure if it was actually an emergency. By the time we got to the ER she had stopped her spell. We explained to the nurse and based on our description, she seemed very worried. We went to the head of the triage line that evening. I remember asking the nurse if we waited too long and she told us we should have come immediately since seizures can cause brain damage.
They administered diazepam until the doctor could assess her. When the doctor came she said Rylae-Ann needed to be admitted for observation. She was admitted to an intensive care unit with observations for 5 days.
She had EEG brain scans, blood tests and even under a 24-hour camera surveillance. Everything came back normal. During that time, there were no spells, but the first diagnosis was for epilepsy. Once Rylae-Ann was 5 months old you knew that the medication wasn’t working and the descriptions the doctor gave us did not align with what we saw at home.
The medications left her limp and lifeless and did nothing to stop her symptoms. We went through a series of medications, all had their own side effects, but none that provided any cure or easing of her symptoms. In our daughter’s case this meant she went through long spells where her limbs twisted and tense while she moaned in pain.
We plan to go to the doctor on the days she would have her spell so they could capture it on an EEG. The doctors were skeptical that we could plan a spell, but like clockwork, she had it that evening. The technician stayed late to do it. And at the end we were also happy that the EEG came back normal during the spell.
This was a small sigh of relief, our daughter completed test to rule out cerebral palsy. So we paid for a genetic test. The panel we did was costly and came back inconclusive a month later. We were reluctant but did another. Again, it came back inconclusive. It felt as though something was wrong with the tests. I did not realize at the time. This was a possible pathway of genetic testing and that the inclusive results was telling us what she didn’t have.
This led to the doctor telling us she had dystonia and the medication would help. It did not. We were left with the undiagnosed mystery disease. Our story of misdiagnosis is a common story that is shared by nearly all in our small community. One of the first difficulties we encountered was receiving the wrong medication. It was very frustrating when doctors told us to increase medication and all we saw was Rylae-Ann sleeping all day long. She wasn’t making any progress and we felt so hopeless. We poked and prodded our daughter, went through tests, each time screaming with the belief this would be the time we had answers.
No answers came and the answers we were provided did not sit right in our gut. I went to various clinics looking for opinions while Richard went researching.
We repeatedly called the hospital to tell them the epilepsy was lasting too long and that it couldn’t be epilepsy.
The nurses assured us that it was epilepsy and told us to continue taking medication. We refused, we travelled to different hospitals and even countries looking for answers. We saved everything in the cloud to help with sharing medical records and our media with other doctors.
It took about 6 months to discover what our daughter had. We figured it out ourselves before the doctors diagnosed Rylae-Ann. We happened to find an article about a child with a rare disease who had the same symptoms as our daughter.
I immediately started looking for information and found a research report about a clinical trial that happened in Taiwan. Although ultra rare at that time, we knew she had AADC deficiency based on that article and the research we did. We booked a flight to see the doctor who published the paper even though there was no information that he would be able to help.
They were surprised to see us show up saying that we thought our daughter had this rare disease that affects around 130 people worldwide, but after a short observation the doctor knew almost immediately that she suffered from AADC deficiency.
By observation only the doctor was confident, which demonstrates that information and awareness alone can drastically speed up the diagnosis process. Later with the blood test, CFT and genetic tests, finally, our daughter had a verified diagnosis.
It was devastating news. We had answers and a correct course of possible ways to treat her effectively and things she was susceptible for. Compared to other families we were able to reach a diagnosis very early. Many are not so lucky.
Early diagnosis is essential to provide early intervention as soon as possible. Encourage patients to record their symptoms through pictures and video so they can easily share with their doctors. Inform patients that genetic testing may not lead to an instant answer, but it does provide data that may eventually lead to a diagnosis. We did three different panels before we had a match.
Getting inconclusive results can help rule out other diseases. Listen to parents and take time to evaluate a child before making a diagnosis. Although they may not use the technical terms, their observations may be more insightful than tests reveal.
Thank you for listening and to all you do to help families in your commitment to understanding the perspective of parents and patients.
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.
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.
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
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
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
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
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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