TOTS 100 - UK Parent Blogs

Thursday, 26 March 2015


Our son, Bastian, is a 7-year-old boy with Phelan-McDermid Syndrome caused by a rare deletion of Chromosome 22q13.  Bastians's journey to his diagnosis was a long and arduous road and we almost gave up hope.  Until late 2013, Bastian was described as having Global Developmental Delay - a generic term used for children who do not have a diagnosis. We also had a long list of syndromes that Bastian did not have. We were informed that at least half of children with GDD never receive a formal diagnosis. It also lulled us into a belief that Bastian would "catch up" as the term delay implies. However we have since found this to be false. In 2011 we were given the opportunity for Bastian to join the Deciphering Developmental Delay (DDD) study. They took blood samples and repeatedly tested his blood for different diseases. We received regular updates with no news. However at the end of 2013, we finally received the news we had longed for - a diagnosis of Phelan-McDermid Syndrome.  The scientific specifics of his deletion are: Karyotype ish del (22)(q13.3q13.3)(SHANK3-)[4{/22q13.3(SHANK3x2)[1].nuc ish(SHANK3x1)[43/100]

Bastian was a happy baby who appeared to be in good health. We first noticed that something was wrong when he was about 3 months old. He was floppy and wouldn't bear weight on his legs.  Bastian was our third baby and everyone else just believed he was a late developer because he was lazy. We really had to push for help and so begun our journey of hospital visits, blood tests, MRI scans, appointments, assessments, therapies and so on.   Bastian was delayed in all areas. His muscle tone was low and this made standing, crawling and walking difficult. He wore a specially adapted safety helmet because he fell over so much. We began an intensive program of speech, occupational, and physical therapies. His speech wasn't developing although he was noisy with sounds and shouts! He wore special boots to support his ankles.  He finally walked just before his third birthday but speech continued to elude him.

With a lack of diagnosis and thus lack of personalised support, Bastian continued to both confuse and amaze health professionals, earning him the nickname of "enigma" .  His hearing was tested twice and deemed normal, but no speech came.  He displayed characteristics  of autistic behaviour yet showed no social communication difficulties. His puffy feet gave no clues. His MRI scan whilst "abnormal" did not result in a diagnosis. He found sleeping difficult and cried every night for no apparent reason.  In spite of all our efforts, Bastian did not catch up to his peers.  In fact, with each passing year, he fell further and further behind in all areas of development.   At times, we would see Bastian gain skills only to lose them quickly with regression.  No matter what we did, nothing seemed to help him.

There are very few things Bastian can do independently and he requires constant supervision.  He has severe cognitive impairment and significant global delays.  He cannot speak and continues to have mobility difficulties, tripping and banging into things. He is unable to walk for very long periods of time and is dependent on a wheelchair when out in the community.  He eats food too quickly without chewing and chokes on his food almost daily.  He is not toilet trained and needs help to get dressed. He sleeps in a specially made cot bed with a support mattress for his own safety.  He needs care for every moment of every day.

Behaviorally, Bastian is a happy, loving, affectionate boy.  He rarely gets upset and has a laid-back personality.  He loves to have his hand held and to cuddle.  He likes to pinch the skin on people's elbows. He often chews and sucks his clothes. He is always smiling and loves to give high fives!

As Bastian gets older, we are experiencing new challenges. He had his first seizure in 2013. Bastian is also at risk of other problems associated with Phelan-McDermid Syndrome eg lymphedema,
Hypothyroidism, Arachnoid Cysts and other illnesses.

If you asked us if we could change just one thing that would improve the quality of life for Bastian and our entire family, what would we change. What would we change?  Would we want him to talk? Of course we would!  Oh how we would love to hear him call us mummy and daddy.  Would we rid him of hypotonia and poor motor planning?  It would be helpful if he could dress himself independently and not fall in the road. Would we fix his digestive issues? He could feed himself without fear of choking or would we pick toilet training?  We would be so happy to not have to change nappies and clean up messes.  What about seizures?  Seizures are really scary.  If we could not worry about seizures, that would be a relief.

We are happy with any improvement and do not mourn the loss of a skill  If we could change one of his many limiting issues, it would be life altering for him and for us.  It would change his quality of life dramatically and ease the demands of constant care.

We can hope and dream they will find a cure to treat everyone with PMS but in the meantime with an uncertain future, we take each day as it comes.

Kat and Phil

Parents of Bastian