The story of Melissa
My 3 year old son Cooper was born with not one, but two rare genetic disorders – PPP2R5D and Schaaf Yang Sydrome. He is currently the only one in Australia with either of these conditions and the only one in the world who has been diagnosed with both.
At the time of diagnosis, as with many rare genetic disorders, we were given little to no information by medical professionals. So we took to the internet and found family facebook groups (largely USA based) for each of the conditions. We have now been able to connect with and share in our knowledge and experiences with other families from around the world.
Having connected with these family groups, specifically with regard to PPP2R5D, we are now part of a large scale research effort taking place in the US, lead by Jordan’s Guardian Angels, a non-profit organisation. The gene PPP2R5D is involved in cellular development and plays a key role in brain development and function. A newly discovered mutation in PPP2R5D has been linked to intellectual disabilities as well as Autism, Alzheimer’s Disease and Cancer. Due to what has already been learned about the mutations in gene PPP2R5D and the possibility or reversing some neurodevelopmental conditions, researchers in the US anticipate that a treatment for these children or reversal of the mutation will be found. For more information about this research please refer to: http://jordansguardianangels.org/ and https://www.ppp2r5d.com/
We are excited to be part of this reserach – we hope to raise awareness of these rare conditons, with a view to more children being diagnosed which will ultimately assist in advancing the medical profession’s knowledge of these disorders and ultimately finding a treatment or cure for our children.
The small number of actually diagnosed cases for both of these rare conditions is due to two factors: that the mutations have only been recently discovered in the last few years and: the diagnosis currently requires whole exome sequencing (known as” genome mapping”) which is a very expensive medical test. It is believed that there are many undiagnosed cases of the mutations existing in the world due to this newness and the high cost of the diagnostic test.
A description of these two rare disorders follows:
PPP2R5D: related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability. Affected individuals have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder, which is characterized by impaired communications and social interaction, can also occur in affected individuals. Most people with PPP2R5D have an unusually large head size (macrocephaly), and some have other unusual facial features, including a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), and eyes that slant downward (downslanting palpebral fissures).
Schaaf-Yang syndrome: Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows. This syndrome is similar to Prader-Willi syndrome.
While Cooper has a mix of characteristics from both of these disorders, including development delay, we are fortunate in that he doesn’t appear to have the intellectual disability linked to both of these conditions. Cooper has craniofacial abnormalities (and a very large anterior fontanelle – he basically has no scull on top of his head). He has hydrocephalus and chiari malformation which are being managed by a VP shunt. He also has severe obstructive sleep apnea. contractures of the fingers, wideset eyes, low set ears and has had feeding difficulties since birth.
Like all 3 year old boys – he loves Paw Patrol and Cars. All medical issues aside, our Cooper is an adorable little boy who wins over the hearts of many with his cheeky and outgoing personality. He makes us smile everyday.