Aimee (Lenny's mum): When I found out I was pregnant my partner Darren and I were thrilled.  We had been trying for 12 months so the pregnancy felt particularly precious. 

Like all young parents we were amazed and full of love to see our baby’s heart beat at the 12 week scan. The obstetrician saw something else too, what he called “Rocker bottom feet”.  A later scan showed a problem with the kidneys too.

It was a scary time us. No one really knew what to expect but we knew we were in the best of hands. Our Paediatrician Dr Pincus was there at the delivery and he took a sample of cord blood for testing.  

Lennox (Lenny) had multiple birth defects including rocker bottom feet which were put in splints at only a couple of days old. He had hypospadias, a tongue-tie, horseshoe kidney, congenital heart disease, failed the newborn hearing test, hypotonia, nystagmus and failure to thrive.

Despite all these problems when we first saw him he was perfect in our eyes. We were instantly in love and knew whatever challenges were ahead that we would get through them as a family.

The blood tests showed Lenny had a chromosomal deletion syndrome (Distal 18q-) so rare it occurs in less than 1 in 40,000 people. 

Dr Pincus kept in contact regularly and I was able to ring him whenever I needed which eased my mind.

When your child had a rare disease one of the hardest things is obtaining the right diagnosis. It was different for us because Dr Pincus was aware of the scan results and was at the birth to check Lenny. It was important for us to get a diagnosis quickly so Lenny could get the right treatment and therapy as soon as possible and we'd know the problems to expect.

The first five years have been a whirlwind of specialists’ appointments, including cardiologists, ophthalmologists, paediatricians, occupational therapists, speech therapists, orthopaedic surgeons and physiotherapists. 

As a young mum it is sometimes hard to come to terms with Lenny’s problems and it can be overwhelming because with rare disorders you often don’t meet anyone with the same condition.  I saw a psychologist to help me cope and I learnt to ask for help.  My supportive family has made all the difference.

Having a child with such a rare syndrome can be very lonely.  You don’t have the usual support groups, like with more common conditions such as Down Syndrome or Autism.  

 Darren, Aimee and Lenny

Darren, Aimee and Lenny

It’s also an issue financially because we miss out on funding set up for the more common conditions, and of course much needed research for rare conditions struggles for funding as well. 

The internet and Facebook are a great bonus because you can connect and share information with other people with rare disorders.

Having a child with such significant disability can make or break many marriages.  My partner just sees Lenny as Lenny, a much loved and adorable five year old. He doesn’t see the disability in the same way I do because he works while I spend so much time at doctors and therapy which makes me pretty aware of the problems. 

At the moment Lenny is in grade one a school for children with special needs. 

His biggest challenge is being nonverbal, which leads to frustration for him and occasional behavioral problems.

He brings so much joy to those around him. All the teachers want him in their class. He loves to play and sing and make people smile. Sometimes I think he’s the happiest boy in the world. 

 

 

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