12/09/2025
A SNIPPIT IF DRAES LIFE
“You are paranoid”, he is a boy, your used to girls, your older now and havent had a baby in
8years.these were all the things i was told when i was telling the drs “i think something is
wrong with my baby”he was my 5th child and i knew something was wrong…
The next 12 weeks was a spiral we were back and fourth to hospital he used to stop
breathing,having what looked like seizures,choking on every bottle and vomit, he wasnt
doing nothing a baby his age should be doing,he would only stare at really bright lights and
his eyes would shake all the time.his head was growing a centimeter a week,and there was
still no sign of any head control or even a little smile,we longed to see for the first time.
Drae was 12 weeks when we once again was sent to bath to have him checked as GP was
concerned , and once again we was told -
”there is nothing wrong with him,its all in your
head” I left in tears, is it really in my head???so at that point we decided to head to bristol
childrens hospital,we walked into an absolutely packed waiting room, and i thought to myself
is this a waste of time, surely they going to tell me the same thing??? We were triaged and
within 20 mins seen by a consultant, they watched him withhis bottle, and told me to stop
straight away. Drae had an unsafe swallow and was aspirating. An ng tube was placed
straight away so he could be fed safely.i told them this had been happening since he was
born and everytime i brought it up with a DR i was told “he gaining weight so obviously
getting what he needed… this wasnt the case, the weight gain was his head and he wasnt
getting anywhere near what he needed. Within an hour a neurologist was down to see us to
access Drae, i explained everything from the past 12 weeks and he responded by saying
“without this sounding out of line, you can tell by looking at him something is wrong”
FINALLY someone was litening to us.
Drae was accessed by many mire drs that day, he was very low tone, wasnt tracking with his
eyes, not smiling or responding to things, and hardly moving any of his limbs. An MRI was
ordered straight away and thats where we headed next. He then had numerous bloods
taken, chest xrays and more. We were told we were likely goin to be in for a good few
weeks. Once settled on the ward, it was the most surreal feeling, finally people was taking us
seriously but a massive can of worms had been opened, and it was clear something was
wrong. I was awake for days, trying to research and find out what was wrong with my boy.
The neurologist on was at the end of his shift, but he stayed until all the results was back,
xray was first, which showed draes lungs were extremely hazy, then the MRI, they were the
results we didnt want, drae had extremely large ventricles with extra fluid, cerebellar
hypopalasia, white matter in his brain stem and grey matter covering the front, and a thin
partially form corpus callosum. Our baby is really poorly, how was all this missed and blamed
on me bein paranoid.
We had to have genetic testing and was told we may not get an answer for years, luckily for
us we had the new genome sequencing genetic test which found 1000s more syndromes,
which ment we actually had an answer 5 weeks later.
“Drae has TBCK syndrome, u would never of heard of it as drae i only number 27 in the
world” How does this even happen, we are just a normal family, and then everything
changed. The mum guilt was intense and still is, nit because i blame myself as i understand
a little about genetics, but the fact i had had another baby and my other kids are now goin to
suffer in many different ways, how do u tell them there baby brother is not likely to make
double figures in his life, how do kids process that, i was seriously struggling, let alone them.
More and more appointments came flooding in and we seen the genetic team, who also
hardly had any info for us as so little was known. Our main support then came from a private
TBCK group, with people who were already living this life, we got in contact with philadelphia
childrens hospital where the syndrome was discovered and where all the research is taking
place. I sent draes genetic report over and once again we were faced with mire bad news,
drae has 2 variants oif TBCK and they are both severe but never have they been seen in
same patient, he is now the ONLY one in the world!!
Draes syndrome is a progressive syndrome meaning it worsens over a short time, as his
brain and central nervous system breaks down. Hes has a few different types pf epilepsy
and has ended up in status epileptus twice resulting in him being placed in an induced coma.
Drae is fed solely via a button in his belly and is allowed nothing orally, he has a pot o cath
fitted for access as all his venus have been destroyed . he has spent half his life in and out
of hospital with respiratory issues, gastro probkems and more, the slightest common cold
makes drae very poorly.
I feel gifted to have been abe to bring him into this world, no one could ever love this little
boy as much as we do, his smile is infectious and he is so content, the love he gives is
something else, i am so proud of his fight every single day.
Along with donations we will be holding a number of fundraising events over the next 6
months, we have vital adaptations that need doin to our house, and equipment we would like
for drae which is not available on nhs, every single person that supports us, in any way
possible honestly needs to know what a massive difference you will be making for our
precious boy
With love Drae and his Family
https://gofund.me/c5dc49304
Hi I’m Rachel, Our beautiful boy Drae was born with a rare and life-limiting condition call… Rachel Mead needs your support for Help Us To Help Drae Stay Safe
