Diyanna is a special girl who has been fighting for her life since she was born. Her unique mutation has caused multiple medical complications along with disabilities. It is hard for anyone to imagine what she goes through every single day and what we have to do to help her survive.
Over the years friends, health care providers, organisations, specialists, academics and other parents of special children have asked me about Diyanna’s diagnosis, condition and about her abilities. After going through all her medical documents and reports I was able to summaries all there is to know about her diagnosis, condition and abilities.
Diyanna has the following diagnosis and conditions/issues
- foetal onset severe neurodevelopmental disorder, due to de novo CACNA1E mutation
- severe global developmental impairment.
- abnormal EEG (abnormal background, multifocal epileptiform discharges) and with refractory daily seizures (up to 300 a day).
- very significant risk to airway/aspiration and chest infection.
- frequent and severe lower respiratory tract infection with any respiratory viral infection.
- abnormal gastrointestinal function, including pain, constipation and gastro-oesophageal reflux.
- severe truncal hypotonia and appendicular hypertonia.
- inability to regulate body temperature.
Diyanna’s condition, presentation and functionality
- severely restricted and constant difficulties making voluntary movements
- unable to maintain antigravity head and trunk postures.
- severely limited in her motor function for fine and gross motor – no head, hand, postural control.
- unable to sit or stand except with highly individualised adaptive equipment and assistive technology.
- unable to move independently and requires individually prescribed wheelchair, seating, etc.
- very low in generalised muscle tone.
- a child with dyskinetic movement – observed as large amplitude, jerky movements that she is unable to control. If she is uncomfortable these movements increase in frequency and intensity. These movements make spinal problems more likely in the future.
- consistently high in muscle tone in her gastrocnemius (calf that points her foot down) and tibialis posterior (that turns her foot in) muscles, bilaterally. Over time the effects of this increased tone would result in Diyanna’s feet pointing down and in permanently.
- persistently showing clonus in both ankles if the balls of her feet are stimulated or her feet lifted. Clonus is a rhythmic contraction of a muscle that is not controllable. A sustained stretch of the muscle can stop it. It is common in the calf muscle where there is abnormal tone.
- unable to control her head and requires constant head support. She needs to be significantly reclined and tilted to keep her head and spine straight.
- unable to roll without skilled adult facilitation
- unable to sit independently and requires full postural assistance in the form of her Second Skin Postural Splint, Wonderseat, or being held, to obtain and maintain a sitting posture.
- unable to kneel or do supported kneeling – does not have the core control required for kneeling or supported kneeling.
- unable to stand unless she is supported in an individually prescribed standing frame.
- unable to walk and has not demonstrated any inclination to take steps.
- does not exhibit balance reactions in any position.
- unable to transfer from one position to another independently and does not attempt to. Requires skilled transfers from one position to another. This is becoming more difficult owing to her increased length.
- displays underlying muscle weakness in trunk and limbs.
- fatigues easily due to weakness and poor endurance for postural holding.
- minimal volitional movement in her hands and no volitional movement in her legs.
- not at all independently mobile. She is carried or transported in her Bingo stroller.
- in need of constant postural support of her head and neck – critical for her breathing. The only safe way to carry Diyanna is keeping her upright, lying against her carer with her head on the carer’s shoulder or carrying her lying across her carer’s arms with her head fully supported.
- eighteen kilograms in weight.
- is restricted for community access due to her fragile health and disability support requirements.
- at MACS Level V.
- unable to handle objects and has severely limited ability to perform even simple actions. Requires total assistance for all fine motor tasks.
- is nonverbal, meaning that Diyanna’s daily needs and wants are interpreted by familiar people based on observation of her emotional state, body movement and behaviour, as well as familiarisation with her routine.
- needs full assistance from a familiar person to observe, interpret movements and behaviours, anticipate and problem solve based on their experience training and observation.
- is a pre-intentional communicator, relying on familiar communication partners to interpret her wants and needs based on observation of her emotional state, body movement and behaviour.
- is extremely challenged to communicate with unfamiliar communication partners, or to be left in the care of individuals who are not familiar, as communication partners need prior knowledge, experience and/or informed observation to anticipate and problem solve to help meet her needs.
- has no functional language skills including auditory comprehension, verbal expression, following directions, or literacy.
- is classified as Level V: Communicates unintentionally with others, using movement and behaviour.
- requires daily needs and wants to be interpreted by familiar people by observing her emotional state, body movement and behaviour.
- needs full assistance from a familiar person to observe, interpret movements and behaviours, anticipate and problem solve based on their experience, training and observation.
- is associated with gastrointestinal problems, including constipation, food intolerance and significant intestinal pain. As a result, she consumes a restricted diet.
- impacts on her oromotor skills, therefore affecting chewing and swallowing. She requires a modified diet and one-on-one assistance in order to safely consume all food and drink.
- requires one-on-one assistance from others to prepare all food and fluids, as well as to assist her with eating and drinking.
- requires oral alerting strategies (administered by a carer or support person) prior to and during mealtimes to assist her to maintain alertness (refer to safe swallowing strategies).
- requires an individually prescribed, supportive chair for mealtimes, with all postural securements in place. Carers must ensure a chin-tuck position for Diyanna at all times.
- requires constant, skilled supervision and support, and remain upright for 30 minutes after meal to reduce risk of vomiting/reflux.
- pureed food only.
- support from a carer to pace the speed of the meal (i.e. provide 1 spoonful, then allow time for Diyanna to swallow before offering the next spoonful), as well as to offer fluid from a bottle every 1-2 mouthfuls to assist with safe swallowing.
Daily Living Activities:
- requires full assistance with all aspects of showering and bathing.
- cannot sit without significant postural support she requires use of a shower trolly to support her whilst her carer bathes or showers her. Diyanna is almost fully reclined so that she can be in supine position whilst being washed.
- requires full assistance with all aspects of dressing. Due to Diyanna’s low tone, inability to provide any postural control requiring full support, two carers are required to assist with dressing Diyanna. Diyanna wears continence aids so requires accessible clothing to assist with nappy changes.
- is incontinent both bowel and bladder. She will have 3 to 4 bladder movements a day. She experiences difficulties passing wind or having bowel movements. Carers are required to provide gentle massage to Diyanna’s lower stomach to assist with moving her bowel.
- experiences severe episodes of constipation every 2 weeks. During episodes of constipation she is also unable to control her body temperature.
- experiences significant pain when constipated, with significant increase in the number of seizures. To assist with the pain and moving her bowel carers will massage her lower stomach, apply pressure to this area by rolling her on to her stomach and needs hydrotherapy.
- requires full assistance will all grooming and oral care activities. Diyanna dislikes her teeth being cleaned, causing her to sometimes gag and vomit.
- requires constant monitoring over night to prevent the triggers that can cause seizure activity and so that emergency services can be called if the seizure extends beyond ten minutes. A number of triggers have been identified that can lead to a seizure.
- is unable to regulate her temperature. She requires regular turning in her bed to allow her to cool skin that is in contact with the mattress. Diyanna’s carers will take her temperature using a thermometer placed under her arm every 30 minutes.
- experiences difficulties with swallowing her saliva at night. She often also experiences a post nasal drip, which can be caused by allergies or when Diyanna is sick. A build-up of secretions can cause Diyanna to gag and increases the risk of aspiration. Build-up of secretions also can trigger a seizure. Therefore, Diyanna needs to be suctioned every 30 minutes throughout the night. When she is unwell Diyanna requires more frequent suctioning.
- experiences bladder and bowel movements throughout the night. Diyanna also requires assistance with moving gas and having bowel movements overnight. She primarily requires a suppository during the night to assist with this. If she does not have the bowel movement at night it may cause a seizure.
- increased dystonia with pain. Pain causes her to grind her teeth and she can bite her cheek and lip, drawing blood.
- experiences discomfort and pain if she doesn’t burp and reflux will cause her to experience restless sleep meaning that carers need to constantly lift her upright (over carer’s shoulder) to attempt to get the burp up.
- increases her unintentional moment of her hands when experiencing discomfort and pain. During these movements she can scratch her eyes and bite her fingers drawing blood. She does not realise she is biting her finger and is not be able to release the bite by herself.
- has seizures daily. The intensity and frequency of the seizures are depended on Diyanna’s distress levels. Distress can be caused from gastric distress, postnasal drip, overheating, during summer and emotional distress.
- is at risk of aspiration during seizures due to pooling of secretions and vomiting. She is also at risk of asphyxiation and serious bodily harm. At this time a care will need to hold her in the recovery position and would need to calm her down while suctioning her secretions. Another carer would need to prepare emergency oxygen, medication and ensure Diyanna’s vomit is away from her face.
- requires a 2 person lift at all times due to her length and low tone.
- requires 24-hour care by 2 carers at all times.