LULA

Northamptonshire, England

Lula was born naturally in Kettering hospital in 1997 and was slightly behind other babies in milestones like walking and talking. At nursery she was quiet and didn’t talk to the other kids much. Not long after she started school, she was diagnosed with developmental delay and autism after it was noticed she was quiet and couldn’t really start conversations with the other kids. But we always questioned that as she didn’t show classic autistic symptoms – although she did have some. Such as being very sensitive to things like noise, and she’d cover her ears when noise got too much.
She also got obsessed with things like Carry On films, TV shows like Only Fools and Horses and Top Gear. And also cars – she could name lots of different cars. She also didn’t like loose-fitting clothes, and doesn’t like cuddles. And is very picky when it comes to food. But she has a great sense of humour and loves music – especially rock music. She even passed her grade 1 music exam in singing. She went for singing lessons for a couple of years and drum lessons too.
She formed a very close bond with her Nan – her great-grandmother – and loved to sing to her. But she won’t sing for anyone else. Lula was devasted when Nan passed away and still talks about her every day and how she misses her.
We had a doctor look at Lula who said she hadn’t developed normal reflexes. Her primitive reflexes had not developed as they should. She is always very careful and didn’t leap around much like kids often do. In fact, we can only remember her falling over three or four times by tripping over a chair etc. And each time she hurt herself as she wasn’t quick enough to put her hands out to protect herself. 
She always struggled going up and down stairs due to not having a good perception of depth, and still does.
Lula went to a normal school until age eight when she was moved to special needs school where she really did well. Her reading and writing were delayed but she did learn to read and write, but she has struggled with maths and still does.
At age nine, her feet started to turn inwards visibly which slowly got worse. After seeing many specialists, it was decided she had developed club feet. The normal medical theory is that club feet is something you are born with and can’t develop. But one specialist said he had seen a few children develop it later, like Lula. She had an operation at age 12 to straighten both feet. They did both at the same time as they figured they would never get her back to do a second operation if they only did one at first. Her feet are now not perfect, but are much better.
Like many people diagnosed with DESSH, she has gastric issues with irritable bowel syndrome, struggles with tooth decay and has a high BMI. She also has short fingers and very thick hair. And a large head – she always wears very large hats! Her face is very different than both mum and dad. She has the classic DESSH nose and wide mouth, one eye has a part that is a different colour, and very thick eyelashes. She has always been very anxious which are, along with the developmental delay, the most noticeable issues.
At roughly age 12, she started to develop a stammer and she hates having this. It has got slightly better in recent years but is still there when she’s nervous.
After school she did one day at a local college but it was all too much and she couldn’t go again. She now goes to a local day centre for people with disabilities a few times a week, but she finds this a bit boring.
She loves going to shops and coffee shops with her mum, although she doesn’t actually like coffee. She used to go to Costa coffee (a chain like Starbucks) so often they offered her a week’s work experience which she loved. After a while, they offered her a part time, paid job and now works there usually a half day per week. In busy times, this has been up to three half days a week or even the odd full day. She serves behind the counter, does the washing up, clears tables, takes food and drinks out to customers and occasionally makes the coffees under supervision. She has now done this for five years and loves it!
She also works in a local sweet (candy) shop, which is run to help people with disabilities get some work experience. She serves in the shop, works in food preparation and has been there for seven years now.
In 2018 Lula started to complain of headaches and feeling dizzy and sick, and started to put on weight quite rapidly. After blood tests, it was thought she might have a pituitary tumour but Lula was unable to have an MRI scan as she couldn’t face going in the scanning machine. She was put on some drugs to combat the issue and this seems to have worked, although she is still under observation.
Lula was diagnosed with DESSH in November 2020 after a genetics testing programme.
She loves baking and watching food programmes on TV and YouTube. She also won an award for her photography in a national competition, and she loves to draw and colour. Most of all she likes to sing and even went to a studio and recorded a song for her Nan.

 

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Vernon, NJ 07462

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DESSH DeSanto-Shinawi Syndrome Corporation is recognized by the IRS as a 501(c)(3) tax-exempt public charity.