After a very long struggle with infertility due to endometriosis becoming pregnant was a huge surprise! Having just moved half way across the world away from friends and family the news was certainly daunting but of course extremely exciting. At 35 weeks I went into labor and after being told we would be on our way home as my labor was reversing Pip was born within the hour. He was not crying when he was born and whisked away into the NICU, but thankfully after a few hours he was brought back to me and we were home the next day. At that time any issues Pip was having with extra sleepiness, jaundice and a weak suck was put down to him being premature. 

Pip’s first few months of life were extremely difficult and traumatic. Due to what we now know is the result of his hypotonia but then simply put down to his being premature, feeding at the breast was nearly impossible for him. The combination of our unlucky choice of paediatrician, our complete lack of sleep and our distance from a support network of friends and family meant that we never really noticed that he wasn’t thriving as a healthy infant should.

For the first two weeks solid I pumped milk every two hours and my husband and I fed Pip drop by drop with a syringe and a pinky finger, feeding could take up to an hour because he was asleep the entire time and we had to blow on his face, tickle his feet, anything we could do to wake him up. It was the most difficult thing we had ever experienced and again it was all put down to him being preemie. We worked for three months with home visits from a lactation consultant who was so hellbent on my breast-feeding that we continued with this struggle and had no idea what was happening, reflux? gas? colic? dairy, wheat, soy allergy? Not once was it raised that he might not be getting enough milk and he was constantly crying because he was simply hungry. 

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At 3 months we begged for answers from our paediatrician and finally started to supplement with formula through an SNS feeding system. It wasn't enough and another four painful weeks passed where he wasn’t gaining weight, he was losing weight. He looked terrible but we had no idea, we didn't see it because he was our only child and we didn’t know any different. At four months the doctor noticed his eyes moving uncontrollably side to side, they asked us when we first noticed it and to be honest we had never noticed it because we felt as though we'd never seen his face because he was either at the breast or asleep! He'd lost weight but his head circumference was large, they sent us directly to ER to meet a renowned paediatric neurologist, avoiding the wait time to see him in clinic. The implication at this point was that he may have a brain tumour and the initial tests were structured around figuring out if this was the case. 

This was our first exposure to doctors other than our paediatrician and we realised they had very different opinions about what was going on and what we should be doing for Pip. They told us to feed him as much formula as he would take on, they guessed he would take about 6 ounces. Well he sucked down 12 ounces right away and in the ER he fell into a deep satisfied sleep, even in the ER we felt a sense of peace that we hadn't felt in four months. He underwent a CT scan which was clear so we were sent home with an appointment to come back for full lab tests. During this time at home, Pip flourished on formula, he drank and drank all day and quickly plumped up into a happy bouncy baby who slept peacefully and the whole first four months began to feel like a nightmare that was finally ending.

After a couple of weeks the neurologist called us in the evening before he left for his end of year vacation saying that they had the lab results and that we should come in first thing the next morning. He sat us down and said to us "well the good news is, he's not dying" we gasped because that thought had never crossed our minds! He told us about a chromosome deletion, a rare syndrome that he, nor the genetics team at UCLA, had heard of called Potocki-Shaffer Syndrome and he introduced us to the genetic counsellor who gave us a print out from the Genetics Home Reference website. They basically told us that everything they knew about PSS was from that print out. The neurologist told us “Pip could be anywhere on the scale of not walking or talking to completely normal. By looking at the size of the deletion I’d guess maybe he'd be somewhere in the middle…" Due to the rareness of the condition and the limited amount of research into the genes included in Pip’s deletion they could really only give us a couple of clues about possible difficulties that would arise in his future.

We started physical and occupational therapy at 6 months and have only increased therapies since. Pip has been reaching milestones such as crawling and speaking words but at a very slow rate, his own pace, in his own order and with a lot of work. The earliest goals of rolling himself over and reaching for objects took upward of 6 months to achieve but we were completely overjoyed when he did eventually reach these milestones and that his fate wasn’t completely sealed and development was possible. It was a huge challenge as parents, not to compare Pip to other children, younger children were surpassing his milestones and children his age seemed far more advanced. We have since grown to realise that comparison is futile and knowing he is on his own path has helped.

Pip has been fairly lucky when it comes to medical problems, his main issues have been his eyes with nystagmus and strabismus, however the strabismus was corrected through patching and surgery. He has hypotonia and intellectual delays resulting in these broader developmental delays. We have seen countless therapists, paediatricians, ophthalmologists, genetics teams, urologists, endocrinologists etc. As PSS is rarely known among the doctors that we meet, finding someone who will listen, research and take the extra time to understand who Pip is and what it is that we're dealing with can be hard, so we seek second and often third opinions where possible. Searching for someone we feel that we can trust and who isn’t simply going through their usual routine has been difficult but ultimately has proved the only way forward.

As parents we have certainly been through the stages of grieving for the child we had expected and many of the things that parents of special needs children generally go through. Meeting the few other families whose children or grandchildren have Potocki-Shaffer Syndrome through Facebook has been a sweet surprise and together we are in a position to provide some more information to other families and possibly even the medical community. We would never have thought that hot red cheeks could be a result of PSS, but seemingly most of the younger children have it! These sorts of revelations have helped us manage our worry and given us practical guidance in times and situations where so much of the stress and anxiety is caused by being surrounded by unknowns.

Little Pip has a very different way of seeing the world but he is a charming, happy and loving little man. He has a well developed sense of humour. He loves people and is very social with a knack for remembering and using people's names. For the past year he has developed a very strong obsession with rainbows and he really is a rainbow himself, a rare treat in life, a shining light, a little glimpse of magic.

P.S Finding support is vital, please visit our Useful Resources page for many links to helpful support and information websites. I also re-visit this article to share with family and friends as I felt it exactly described what we were/are feeling!