Welcome back guys. It has been five years since I last posted anything on this blog. A lot has happened in those five years. Anyone familiar with this blog may have noticed that I have deleted the last few entries about my health. Whilst it has impacted my life greatly I do not wish to divert attention away from the central focus of this blog: my special needs daughter, Elizabeth. I've made a slight change to the blogs title, instead of reading '...with a child with autism', it now reads '...with special needs', for my daughter Elizabeth can no-longer be labelled as being on the autism spectrum. There was no magical cure since the last time I posted, but rather just a change of diagnosis. A diagnosis that has answered a lot of questions.
Although Elizabeth had genetic tests done at two years of age, concerns raised by teachers and therapists alike of her having a lot of Rett’s characteristics, prompted another round of tests at the end of 2014. There had been of lot of advancements in genetics in the last six years and therefore incongruities were picked up that were missed in the last round. In December, 2014, Elizabeth was officially diagnosed with Phelan-McDermid Syndrome, one of only five hundred PMS children in the world at the time (now estimated to be around 1500). I always knew my little girl was unique, I just didn’t imagine how unique.
Phelan-McDermid Syndrome is caused by the deletion, or loss, of the terminal segment of the long arm of chromosome 22. The loss may result from a simple deletion, an unbalanced translocation, a ring chromosome, or other structural change. In the majority of cases, the SHANK3 gene is lost as a result of the deletion; other cases have been described with mutations within the SHANK3 gene. The SHANK3 gene, which codes for the shank3 protein, is found in the brain, heart, kidney and other organs. Its most important role is in the brain. It supports the structure of excitatory synapses and is involved in processes crucial for learning and memory. It also has an important, if not fully understood, role in proper brain development.
There is a wide range of severity of symptoms observed in people with Phelan-McDermid Syndrome. Like other autism-related syndromes, PMS is associated with intellectual disabilities, sleep disorders and seizures. Most children with PMS have moderate to severe delays and often do not develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems with eating and sleeping. Other symptoms may include poor thermoregulation and dysplastic finger nails or toenails. Behavioural issues may stem from autism (e.g., repetitive behaviours), from poor communications skills, or unknown origin. For unknown reasons, toilet training is often difficult in this population. In spite of these issues, infants with PMS tend to be easily amused, and adults often have a sweet disposition (this is very true with Elizabeth). Elizabeth has quite a large segment of chromosome 22 missing and presents with most of the above including not developing a functional language and thermoregulation: as she does not sweat she can overheat quite fast in this Australian climate.
So what has happened in the last few years? Elizabeth is still attending the same Special School. The school has completely taken over her therapy and in the last three years have focused on intensive interaction and communication. Elizabeth never developed speech and is completely non-verbal, and it is likely she will always be so. She still needs a lot of assistance in feeding herself, but is slowly improving. She still needs assistance in dressing and all aspects of self-care. But her interaction with adults has greatly improved. Instead of feeling like an outsider looking in, I now feel like I’m truly part of her life. Elizabeth is always aware of where I am in the house and is forever curious about what I am doing. When she was younger she was very much in her own little world, hence the initial ASD diagnosis.
Elizabeth particularly likes watching me prepare meals as she loves sneaking bits of raw vegetables including carrot, cucumber and even mushrooms, thinking I’m not watching. She is definitely not a fussy eater and will try anything, even things I’ve turned my nose up at. She also loves following me around when I’m vacuuming and constantly, to my exasperation, turns the vacuum cleaner off and on. Elizabeth also maintains excellent eye contact and boy, does she let me know when she is not happy about something. She also initiates interactions all day long by taking my hand and directing me to where she wants me to go. I love it when she takes both of my hands and leads me into the lounge-room to dance. You can clearly see through her expressions and direct eye contact that she genuinely enjoys sharing these moments with me.
As she has gotten older however, she has become more sensitive to noises and crowds and though she once loved observing other children she now gets quite anxious around them. My parents often take her to the playground and whilst she is happy when there are no children around, as soon as other children enter the playground she becomes visibly upset and wants to leave. At the Petrie markets the smaller of the two jumping castles gets reserved specifically for Elizabeth at the end of the day because of this. We believe she started to become anxious around children two years ago when she was placed in a class with a child with major behavioural issues. The child use to push Elizabeth over and kick her in the stomach and chest. Despite many complaints he wasn’t moved to another school until he broke Elizabeth’s front tooth. This year Elizabeth was placed in a class with seven other children and not the usual three or four. All the children have gentle natures and we are hoping this arrangement would start to desensitise her to being around and in close proximity to other children (and for her to start realising that they are not going to hurt her). Two weeks in to the term and this seems to be working.
Elizabeth, like a lot a special needs girls, was also diagnosed with precocious puberty two years ago. To delay her puberty she gets Lucrin Depot injections every three months at Lady Cilentos Children’s Hospital, Brisbane, and will continue to do so until she is about twelve. These injections are very expensive and her particular dose (22.5mg) is not covered by the PBS. The children’s hospital though has funded Elizabeth for the injections at $1000 a shot because of her pre-existing Syndrome.
The first part of this blog focused on the first few years after Elizabeth was initially diagnosed with Autism. The second part will be now focusing on her pre-teen years and her new diagnoses of Phelan-McDermid Syndrome and what this means in terms of her therapy and future. I would love for you to take this journey with me.
As well as an Occupational and Speech Therapist, Elizabeth has been seeing a Physiotherapist over the last two years to try to tackle her toe walking. She literally walks, runs and jumps on the very tips of toes that’ll put a professional ballerina to shame. Despite regular exercises, the physio has recently noticed a stiffening of Elizabeth’s hips and a slight change in posture, as well as, a tightness in her calf muscles. To prevent major surgery when she is older, Elizabeth has been fitted with AFO’s (ankle foot orthosis). She is to wear them five hours a day over how long it takes to get her out of the habit of toe walking. It could be a few months or a few years. At the moment as soon as they are taken off she is back on her toes. She doesn’t seem to mind them which is a blessing and can still climb and jump in them. However, I’m not looking forward to summer as I can imagine how hot they are going to be.