Welcome to Jackson’s (otherwise known as The Little Wee Man) new website
The aim of the site is to spread Jackson’s (aka Jax) story far and wide hoping that someone somewhere will recognise his condition/ symptoms and help us get a diagnosis.
The nearest recognised condition with similar characteristics to Jacksons is a rare condition called Hyperekplexia. but genetic testing has come back negative for this, so our officially diagnosis is we have “a none diagnosis”. Jacksons condition is not recognised by the NHS. there is no further tests that can be carried out. (although his MRI & CT scan will be repeated when his older).
Jackson has a FANTASTIC support team he has a physiotherapist , occupational therapist (OT), dietitian, portage, Speech and Language Therapy(SALT) community children’s nurse (CCN) in the community. as well as this his medicines are monitored by his neuro consultants and respiratory consultants at the hospital so we are very lucky that way but we still have to take each day one day at a time. he may have a good day or bad day his symptoms may lesson (due to meds) or he regularly throws in a new symptom .
We have signed up to be part of a research project called “100,000 genome project” which is genetic testing looking for new & rare diseases. This is our final hope of getting more information on Jax condition and best case scenario a named diagnosis.
for more info click this link http://www.genomicsengland.co.uk/the-100000-genomes-project/
Jackson’s bloods tests were done for the genome project in May 2016 and the results should come back May 2017 !
Here are the facts of Jacksons story so far: (as these change I will update the info on the blog).
throughout my pregnancy there was no indication that there was going to be any complications with Jackson. I was scanned fortnightly & up to 3 times a week at the end due to gestational diabetes. all scans of Jackson were ‘normal’ he was expected to be on the large side due to my pregnancy diabetes, but was only 7lb 11oz born at 37weeks
Jackson was induced but there was no other complications during labour his problems began when the cord was cut. he didn’t do the transition from foetus to baby. Although his APGAR score was high. (the first sign that Jackson was going to rewrite the rule books)
- He had polycythemia (he was burgundy in colour)
- Was intubated and ventilated
- He has chest recession
- He can’t swallow 1st videofluroscopy showed he aspirated, 2nd one booked for Feb but put back until his SALT think he is well enough. he was fed by NG tube until June16 when he had his mickey button (Peg) fitted. all of Jacksons feeds and medicines are giving directly into his tummy vis his button
- He has apneoas and regularly stops breathing (he’s on oxygen 24/7)
- He has jitters
- Clonus and myoclonus
- Delayed development by about 5 month (but he is making progress)
- Intolerance to cows milk protein
- Has eczema
- Has Hayfever
- Has suspected sensory processing disorder (SPD) (began clapping 30.5.16) (began waving 16.6.16)
- Gastro-oesophageal reflux. (1st June 2016 – Little Wee Man started showing blood when testing the NG Tube)
- fundoplication booked November 16
Why is he a medical mystery??? These are just a few examples of why Jackson is a medical mystery or “unique”/”not text book”. These are the reasons why we need you to help share his story.
Jackson has apnoeas on a daily basis. He forgets to breathe and his SATs drop. Jackson also has apnoea where his SATs are in the high nineties and maintain that level while he physically isn’t breathing and intervention is needed. He can also maintains his colour while this is happening??????
- Jackson can be fully alert breathing etc. But his SATs can be sitting low 60s. Again, he can maintain this until we step in.
- Jackson has stopped breathing turned blue!! Yet the machine levels have been within normal limits???
- He has passed EEGs VEPs but in a crowded noisy room he goes into a wipe out sleep.. where he is only responsive to pain. This comes on suddenly..
- His jitters and muscle tightness are intermittent there’s no pattern. He can switch sides that’s affected and or limbs.
- He has had normal childhood illnesses. Colds, sickness diarrhoea etc but has NEVER had a temperature.
Sensory wise as Jackson grows he is getting worse at handling “transitions” he can’t handle change, large groups or being surrounded. he withdraws his hand if you try and place it. and at 11month old he doesn’t give cuddles. (started giving cuddles at 14months)
he has started sitting propped for about 30secs before he head dives, he doesn’t weight bare through his arms or legs. HE DID HIS FIRST COMMANDO CRAWL 14.4.16
*GASTROSTOMY (mickey button) OPERATION CARRIED OUT 21 JUNE 2016*
*SAID HIYA 17 AUG 2016*
We don’t know if our baby boy will ever sit safely, walk, talk, eat. will he ever be able to breathe on his own?? and when people ask us whats wrong we have to say “no-one knows”. this breaks our heart please please share his story someone may be able to help
Thank you for taking the time to read about Jackson and helping to support us in our mission to get answers