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Rebecca Marsh avatar
Rebecca Marsh

Help Raise Money for Jahleel & his friends around the World with this AADC Brain Disease.

Fundraising for The AADC Research Trust

373 %
$3,550.00
raised of $950 target
by 81 supporters
Donate

Teddy Wears BLUE 4 AADC - 22nd to 28th MAY 2017 - Text: BLUE42 £2 TO 70070 or Donate ONLINE here

HELP us HELP our children! Raise Funds and Awareness about our RARE Disabling and Life-Threatening Brain Disease Wear BLUE for AADC deficiency and DONATE £2 to our cause! ​ 22nd May to 28th May 2017​

Charity Registration No. 1114367

Story

Thanks for taking the time to visit my JustGiving page.

Jahleel was born on the 8th of July 2016. After a very easy pregnancy he came into the world via emergency csect & after a few minutes getting help for breathing all was well. He was feeding well but not putting on weight even though I was feeding every 2 hours. He dropped his temperature down to 35 c but the nurses just thought it was because the room was drafty & baked him under a heater for the day. He was a sleepy baby & I totally thought I had got lucky because my other son was awake from day dot & never slept! How wrong was I?! After spending 6 days in hospital, both recovering from a full on experience we went home. It was the middle of winter so Jahleel was always bundled well and swaddled at home with the heater on.


My Mum was down helping me & had commented on Day 8 that he felt a little cold to touch. We bundled him up a little more & I thought nothing of it. He was an inteactive but sleepy baby with little movements that I just put down to normal new born baby movements. He was strong! On his second day he was feeding with his head towards me & he heard my other son Khaleeds voice & fully turned his head around to see where it was coming from!!

I had a Maternal Health check up which was about 15 minutes away from us via tram so I put on some really warm clothes, fluffy jackets & layers & bundled him into my sling next to my heart & warmth and we went to get checked over. Jahleel still hadn't gained birth weight after Day 9 & in fact had dropped more weight even though I was feeding still every 2 hours. We were just finished & I happened to mention that he was a little cold to touch so the maternal nurse took his temperature & said to me " You need to get him to hospital now. " His temperature was 34.2c. He was hyperthermic & I had no clue. I got him to the Royal Womens Hospital in Melb as they had our history. His heart rate was 72bpm. Our nurse saved his life by testing him & telling me to go. He was pricked and had drips put in, he was stripped & put under a heater. Then he was given a Lumbar Puncture to see where the infection was. They told me to get out of the room whilst this was happening as it's not something you want to see people doing to your new little baby. I stressed because I knew how strong he was & worried he may move & that would do something to him. I sat drinking a cup of tea down the hall expressing in tears listening to him scream. The decision was made to move him to the Royal Childrens Hospital in Melbourne so he was put into an oversize incubator that made him look so tiny & we made our way up to the kids hospital 5 minutes away. The parametics were super supportive & went about their business professionally. 

We got to the NICU ward that we would call home for the next month. That day I stayed watching him & telling him not to give up. To keep fighting. Over the next week, his temperature kept going up & then everytime he was moved out of the incubator is dropped again. That first night he had eye movements like he was seizing but only I saw it. He was getting more & more lethagic & to tired to latch onto to my breast. A feed would take over 45 minutes of just trying to get him on & it was like he kept forgetting how to suck. When he eventually did, he made the biggest lip smacking sounds trying to get milk into him. Eventually the decision was made to put a Nasal gatric tube down to feed him & try to get him to gain weight that he was still dropping. 


They tested him for eveything they could think of & pretty much said that he was a late developing baby. He was born right on his birth date at full term. And had showed signs of being advanced with head control etc. Except he was going backwards. His head became floppy at times but again I was the only one seeing these things. His eyes would completely roll into the back of his head, he had these body movements. I felt like I was going crazy because no one else would see them but the NICU staff were amazing and at 11am every morning they made their way around the ward talking to the parents on what they were noticing & went with what was said. Ordering more testing etc. He had more Lumbar punctures, blood tests, blood gases, urine, MRI's, Brains Machine and so much more but the only thing that came back was a slightly enlarged Pituitary gland but nothing to worry about. He was still weak but we eventually got out of hospital with no formal diagnosis given. A few days later we were back in. More tests, no answers until one really special urine test was done as one Doctor had seen similar symptoms in kids in Malaysia so had ordered it. It was quickly wrapped in Alumin wrap as exposure to light killed what they were trying to find. And whisked off 2 hours away to Sydney. I was told if they couldn't get anything back from this then the next stop would be for it to get sent to California. It came back with elevated readings of a hormone. Normal is 1000 & Jahleel's was 2000 something. That Dr's hunch was starting to pan out that this was something Metabolic. I was given a half diagnosis, told not to search rare metabolic diseases as what they was thinking was pretty bad & another Lumbar Puncture was down to pin point what it was she was thinking. It came back clear. The next step was a Genetic test that mapped out the Metabolic genes. They would first test for 10 genes, then a few hundred, then a few thousand. And if it still came back clear we were going home undiagnosed. " We will retest in 6 months as Genetics is ever evolving. "

 A week later I got the call to come in. Dr Richard Leventer the Neuroligist who was originally called to look at Jahleels tone was there as well as about 7 other Doctors. It was very intimidating. But at last we had a name for what ever it was he had. Aromatic Amino Acid Decarboxylase Deficiency or AADC which is a genetically inherited neurological disorder affecting the brains ability to produce neurotransmitters, dopamine and serotonin; two of the most essential neurotransmitters needed for every day living! AADC deficiency presents early in life with hypotonia, hypokinesia, Oculogyric Crisis (known as a spell/attack), autonomic dysfunction, dysphoric mood, and sleep disturbance. 

AADC deficiency presents early in life with hypotonia, hypokinesia, oculogyric crisis, autonomic dysfunction, dysphoric mood, and sleep disturbance. There may be a number of movement disorders, most frequently dystonia. Diurnal fluctuation and improvement of symptoms after sleep is a characteristic of AADC deficiency. The majority of affected children show minimal motor development in the absence of treatment.
 
The presentation of symptoms is variable and there are variable degrees of severity
 
Neonatal Period
Feeding difficulties
Autonomic dysfunction
Hypotonia
 
Motor symptoms
Axial hypotonia (decreased tone or floppy - trunk, head and limbs)
Limb hypertonia (increased tone to the limbs)
Fluctuating limb tone
Hypokinesia (decreased spontaneous movements)
 
Oculogyric crises (a spasmodic attack and fixation of the eyeballs upwards)
 
Other movement disorders
Limb dystonia (disorder of muscle control)
Stimulus-provoked dystonia
Cervicofacial dystonia
Myoclonus/prominent startle
Distal chorea
Choreoathetosis
Athetosis
Parkinsonism
Flexor spasms
Tremor
 
Drug-induced dyskinesias
Chorea
Dystonia (disorder of muscle control)
 
Diurnal
variation/improvement of neurologic symptoms after sleep
 
Autonomic dysfunction
Diaphoresis
Temperature instability
Nasal congestion
Ptosis/pupillary changes (droopy eyelids)
Hypotension/bradyarrhythmia
RAD/GI dysmotility (Gastrointestinal symptoms including gastroesophageal reflux, constipation, diarrhoea and dysmotility and absorption (inability to pass food through the gastrointestinal tract because muscles do not work properly)),
 
Dysphoria general feeling of unwell, unhappy and emotional lability
 
Sleep disturbance

The diagnosis was not good. A Super rare Brain Disease. Only 130 or so kids diagnosed but probably a lot more misdiagnosed. We lose 3 kids a year on average. We have already lost 2 this year so far. And Jahleel was the second kid in Australia to have it & the youngest diagnosed in the World. We actually were lucky because the average diagnosis time is 2-3 years. Imagine going through all of this for that long & not having a name for it? Ok so what it the treatment? Well the Dr's explained there is no cure. There are countries trialling Gene Therapy & Stem Cell technology but those will take time. Meanwhile we start Jahleed on some meds to try & help support what little nuerotransmitters he has to help him function. He would cry constantly, be in pain after drinking milk and would never sleep. After 5 months of literally nights on end of being awake I asked for him to be put on Melatonin (something these kids can't produce properly themselves) & that night he fell asleep within 5 minutes of having it, didn't finish his bottle & slept for 5 or so hours. OMG!! Sorcery! I wish I had of asked for it ages ago because I was losing my shit & honestly wanted to throw him at the wall. There is a reason why Sleep deprivation is used in torture. As he got older, his dystonia got more noticable, he cried still for hours on end. Making it a nightmare to shop as people would stare & tell me my baby was crying like I couldn't hear him. And he had his first Occular Gyric Crisis whilst we were away on Christmas Holidays. Nothing can be done for this other than dosing them on more Melatonin than usual & giving pain relief & trying to get them asleep as fast as you can. Try rolling your eyes to the very top of your head & keeping them there for one minute. Hurts hey? And these crisis attacks can go on for up to 8 hours. Some are so severe that these tiny little bodies are so bent out of shape they now have very severe Scoliosis.

Fast forward 9 months later & Jahleel is a beautiful, happy baby despite the pain he goes through on a daily basis. I would say that most weeks he is in pain at least 90% of his day. People tell me he looks "normal". I've had people tell me they don't believe me. But he is not normal, he probably never will be. He cannot eat solids, he nearly asphyxiated on pureed foods, he power chucks on a daily basis. He does it in his sleep. I saved him from choking a few weeks ago. I was lucky I was awake. He cannot hold his head up, tummy time is a few minutes. He can't roll, can't crawl, can't sit up by himself. My days consist of feeding him, trying to help him with his pain & get him to sleep more than 15 minutes at a time during the day.We have a new normal. My day is ruled by him & how is feeling. He literally can change hour by hour. My 8 year old son has taken on more than he should & cooks dinner for me, does the washing, hangs stuff out, worries about Jahleel, changes his nappy, checks his temperature for me, watches him whilst I shower otherwise there's days I'd would not get one. He has had to grow up fast & with the knowledge that colds can put him in hospital fast. He could get the call that we are in hospital & get shuffled around friends houses not seeing us for days. This has effected us so much in 9 tiny months

90% of these AADC kids have a pretty harsh lives ahead of them. Only 10% will be able to walk, talk, eat etc. 

The AADC Research Trust is the ONLY one in the World raising money for our kids to help fund these trials & research. Lisa Flint went through this years ago with her son Jake & fought so much for his diagnosis which they got after 3 years. And now 13 short years later there has been more researched on it that the symtoms were picked up by one Dr who ordered that test. We are truly lucky. If you have made it this far thank you for reading just some of our story. Please help out with donating money to the AADC Research Trust in the name of Jahleel. 

If there is one thing I would love Jahleel to be able to do in his life time it's to be able to return a Hug.

Love & Light

Bec xxx


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Photos

17
  • Khaleed was exhausted after being awake since 3am!
  • 5 or so minutes old. Came into the world fighting. +15

Supporters

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