My son Luke was diagnosed with aromatic amino acid decarboxylase deficiency (AADC) at 6 months old. He is the only child from Ireland to be diagnosed and the youngest in Europe.I am starting the Cream Pie Challenge to help raise funds for AADC Research, to get us one step closer to finding out more information about this horrible disease, raise awareness and hopefully a better treatment.
The cream pie challenge rules:
- Fill a paper plate with whipped cream
- Squash it into you or your face or friends face
- Donate as much or as little as you want
- Nominate 5 people to do the cream pie challenge
- Upload your cream pie challenge video or cream pie selfie to give everyone a giggle!
This is Lukes story,
During my pregnancy with Luke complications started arising at around 20 weeks. He was extremely small for his gestational age and the umbilical cord had increased resistance (there was blood flow and oxygen still flowing but there was pressure on the cord) At around 32/33 weeks some of my waters broke so i was admitted into hospital until Luke was born. Luke's heart rate kept dipping as low as 70 (the normal heart rate is between 110 and 160) so I was brought in for an emergency c-section. Luke was born 6 weeks premature, only weighing 3.7 pounds. Luke let out a massive cry straight away. We were so surprised he was boy!! He was perfect!! After Michael and I gave Luke a long awaited kiss he was rushed off to the Intensive Care Unit. He had so many wires and tubes all over him and was on a cpap machine to give him oxygen and help breathing a little bit easier. He started getting Jaundice a few days later. After a week he was transferred to the High Dependency Unit and after another week he was transferred to the Special Care Unit. Slowly the wires and tubes were disappearing! He started drinking his bottles and was out of his incubator!! After the month he spent in hospital we could finally take our miracle home!!
Luke would sleep a lot of the time and would get cold very easily but we thought it was because he was premature. Since we brought him home he was really congested. Over the weeks he began to have reflux. At one point Luke's clothes were getting changed about 10 times a day from him constantly vomiting. His face became very swollen and started getting very bad eczema just on his face.We also expected a milk protein allergy so we tried different formulas but nothing seemed to make a massive difference. He very rarely opened his eyes, but when he would he would just open one eye most of the time. When he opened both eyes it was very hard to tell but it looked like he was cross eyed. I thought he was also getting colic because he was so irritable and crying a lot. After going to two different doctors and a trip to the emergency room, trying different formulas, colic drops and reflux medication I had to accept that I just had to give it time and he would get better the older he got.
Luke had started going into an Oculogyric Crisis ( trance/daze/spell) It wouldn't happen a lot, maybe once every 2/3 weeks. I had no idea what was happening or what it meant but I thought when he was in a crisis that he was concentrating so hard to look straight with his eyes. Over time it got worse and i realised it wasn't normal. When Luke goes into a crisis his eyes go inward and upwards. His breathing changes, his facial expression changes, he drools a lot more, his back arches, his hands go into fists and his upper body goes very stiff. He goes into crisis nearly every 72 hours. Depending on what time he gets it and how severe it is he can be stuck in it for the day or be in and out of it until his bedtime.
At our three month (6 weeks after his estimated due date) development check up with the public health nurse she noticed Luke wasn't meeting his milestones. His muscle tone was poor and wasn't as alert as he should be and wouldn't fix and follow things with his eyes. We decided to bring him back in 6 weeks when he was supposed to be three months old. At the next appointmented things hadn't improved. Our public health nurse referred us back to The Coombe Hospital. Our consultant ordered a lot of blood and urine tests. Some took weeks for the results to be back. One of his urine samples was abnormal so we had to do another to make sure it wasn't a false result. It came back abnormal again. We were admitted into Our Lady's Hospital to do further investigations. That was one of the worst moments of my life.
They were looking into Metabolic conditions or a possible brain tumour. When Luke was admitted he was brought straight away for a brain and abdominal ultrasound. They were both clear . Later that night I asked what was written in his file. I saw aromatic amino acid decarboxylase deficiency (AADC); Lumbar puncture to confirm. I asked the Doctor what that meant and he had never heard of it before. I looked it up on the internet straight away and reading the symptoms I knew straight away this is what Luke has. He was scheduled to have a lumbar puncture that week. The first time wasn't successful because Luke held his breath, he turned blue and his oxygen levels started dropping. They stopped immediately. We needed the results of his lumbar puncture to confirm his diagnosis so they tried again the next day. They were successful! The results would take weeks to come back so we were allowed to bring Luke home. In the weeks after we were in and out of hospital to get an MRI done, meet with different consultants and to do more tests. His lumbar puncture results came back pointing towards AADC. Luke makes undetectable amounts of dopamine and serotonin (vital neurotransmitters for everyday living) We started preventive medication which is Pyridoxine (vitamin b6) and folinic acid, melatonin liquid (to help him sleep), scopaderm patch (to help with his drool) and other medication to help with some of his symptoms.
My mam had found a website which was a charity for AADC. It was set up by Lisa Flint whose son also suffers from AADC. I made contact with her and she was so helpful and supportive. She added me into a group with other parents who have kids suffering with AADC. The group has been so helpful in so many ways from tips, their experience and support.
We are currently waiting to go over to England to start proper treatment.
AADC is a genetically inherited neurological disorder affecting the brains ability to produce neurotransmitters, dopamine and serotonin; two of the most essential neurotransmitters needed for everyday living! AADC deficiency presents early in life with hypotonia (poor muscle tone), hypokinesia (decreased body movement), Oculogyric Crisis (known as a spell/attack), autonomic dysfunction (problems with blood pressure, heart rate, sweating, digestion), dysphoric mood (depression,anxiety,agitation), and sleep disturbance.
Affected children can also show a number of movement disorders, most frequently dystonia(movement disorder) . Diurnal fluctuation (temperature fluctuation) and improvement of symptoms after sleep is a characteristic of AADC. The severity of symptoms experienced by each affected child varies, but the majority of children show minimal motor development in the absence of treatment. Some children can't walk, while others can't talk, others can't eat or drink by themselves. Some children respond brilliantly to treatment and can do everything but still have issues with other things. It all depends on how well they respond to treatment. Even if a child responds fantastically to treatment, if they stop taking their medication, they can't walk, talk, eat, drink or even sit up unaided.
Research is solely funded by AADC research trust. It is one of the rarest diseases in the world with only roughly 130 cases documented. Because this disease is so rare there isn't a lot of research into this complex disease. Each child responds differently to treatment and for some it fails to make any difference at all. For some children AADC has been fatal.
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