FD24P00427 - [2025] EWHC 1988 (Fam)

This is an application concerning a teenage girl (J). She is 15 years of age. The application is made by the Guy’s and St Thomas’ Trust (GSTT), which has responsibility for the Evelina London Children’s Hospital (ELCH), where J is presently an in-patient. J is diagnosed with Pantothenate Kinase Associated Neurodegeneration (PKAN), an extremely rare and progressive neurological disorder of the brain. She suffers with Status Dystonicus, uncontrolled painful muscle spasms, which have proven to be refractory to pharmacological interventions. J has an older sister (A) who also has the same condition and suffers significant neurodisability in consequence. For reasons discussed below, the Trust seeks Declarations that it is not in J’s best interests to receive ‘airway manoeuvres’ (chin lifts and jaw thrusts) on the basis that these have now become painful and burdensome, and that they are symptomatic treatment only, which will not treat J’s progressive neurological disorder.

J was admitted to X in the ELCH on 12^th March 2025, from the Paediatric Intensive Care Unit (“PICU”) in the John Radcliffe Hospital, Oxford having initially presented to Wexham Park Hospital with worsening dystonia.  J has had electrodes (Deep Brain Stimulation (“DBS”) System) implanted in her brain (on 12^th April 2023) to manage her dystonia.J is subject to a Care Order in favour of the Local Authority (the Royal Borough of Windsor and Maidenhead). The Local Authority is a corporate parent and shares parental responsibility with J’s mother and father.

J was referred to the ELCH Complex Motor Disorder Service for consideration of DBS on 21^st March 2023. The referral was from the Acute Paediatric Neurology Service at Great Ormond Street Hospital (GOSH). DBS is a minimally invasive functional neurosurgical procedure, involving the placement of fine electrodes into the deep substance of the brain which are connected to an implanted neurostimulator device which is placed under the skin in the chest or abdomen.

The ELCH is one of only three services in the United Kingdom which provides a DBS service for children and receives referrals from around the country for this intervention. J, as I have stated above, has a confirmed diagnosis of PKAN, and at the point of this referral, was in a state of Status Dystonicus.

J experiences dystonia, a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. I have been told that children and young people with dystonia may experience episodes of an acute worsening of dystonia, where involuntary muscle contractions become so severe that they may be life threatening. In themselves, these contractions are associated with an 8% risk of mortality.

J was first admitted to X, at the ELCH on 31^st March 2023. At this time, she was receiving very high doses of a number of sedative medications, including an infusion of intravenous clonidine. She was receiving all nutrition through a nasogastric tube, and it was noted that it had been difficult to maintain intravenous access due to her involuntary movements leading to displacement of intravenous cannula.

In discussion with her family, both before and following transfer, the rationale for DBS was explained, and it was also made clear that this was at best a symptomatic treatment which would not in any way halt the progression of her underlying neurodegenerative disorder. The expectation was that surgery would help in resolving her then current episode of Status Dystonicus, but it was sadly inevitable that future episodes would recur. Ultimately, her condition is life-limiting. Prior to DBS surgery, J’s dystonia worsened on the ward, and she was transferred to PICU as it was felt that the level of sedation she would require to maintain her comfort could only be safely delivered in the critical care environment.

J was transferred back to X on 20^th April 2023. Post-operatively, her circumstances remained challenging. Control of her dystonia was initially precarious, with significant periods of high levels of sedation required. J experienced electrolyte disturbance, with high levels of sodium in her blood stream (hypernatraemia) due to excess fluid loss, through sweating during her episodes of severe dystonia, and treatment with intravenous antibiotics for infection. I will say more about J’s responses to treatment below, but I would note here that she particularly dislikes the sweating caused by the dystonia, which plainly makes her feel persistently uncomfortable.

J remained an in-patient at the ELCH until 9^th July 2023, at which time she was transferred to Wexham Park Hospital for ongoing care. Whilst DBS resulted in termination of the episode of Status Dystonicus, it is notable and significant that she did not return to her previous baseline, having experienced a loss of basic motor skills, a worsening of pain and discomfort due to her ongoing movement disorder, limitations in her capacity to communicate and an increased dependence upon others for all aspects of her daily care.

Throughout J’s admission to the ELCH, the progressive nature of her condition has been discussed with her family, who were informed, as I have noted, both of the benefits of DBS and the fact that its effect would progressively diminish and ultimately be lost over time. J was transferred back to the ELCH on 27^th November 2023 for the elective insertion of a percutaneous epigastric (PEG) feeding tube. Following the episode of Status Dystonicus earlier in 2023, J had required feeding through a nasogastric (NG) tube. Whilst the surgical procedure was uncomplicated, shortly upon return to the ward, J developed a worsening of her dystonia, again entering a state of Status Dystonicus. She required DBS adjustment, and a further escalation of her already very high levels of sedative medications.

J was electively admitted to X at the ELCH on 22^nd April 2024 for a planned overnight admission, to facilitate her one-year post-DBS Multi-Disciplinary (MD) review. It was noted on this assessment that J had experienced a further progression of her condition since her admission at the end of 2023, with the development of more obvious bradykinesia (a slowness to initiate volitional movements) and more complaints of pain related to her dystonia. She had stopped taking any food by mouth and was noted to have lost interest in even small amounts of “taster” volumes, as they would cause her to cough. J was only able to tolerate her wheelchair for a maximum of ten minutes at a time, remaining bed bound outside of these short periods. In this period, J was still able to smile and giggle to express pleasure and could consistently indicate a “yes” or “no” with a turn of her thumb. The positivity of J’s smile and humour, along with her conspicuous courage, has made her a very popular patient with all who have had, what they would regard as, the privilege of treating her. She is plainly inspirational to all those with whom she comes into contact. She has navigated the deterioration of her condition phlegmatically and with great resilience. However, concerns have been raised by the MD Team (MDT) recently, about signs of low mood, reactive to her deteriorating condition. A recommendation was made for some psychological support for her.

J was further admitted to X on 12^th March 2025, from PICU in the John Radcliffe Hospital (Oxford), having initially presented on this episode to Wexham Park Hospital with worsening dystonia. She remains an in-patient in the Hospital. Against a backdrop of reported worsening dystonia and discomfort for several weeks, J had presented to Wexham Park Hospital, sadly once again in Status Dystonicus, and had been transferred as an emergency to PICU in Oxford for an intravenous infusion of high dose clonidine, a sedative medication, which could not be safely delivered on the ward at Wexham Park Hospital.

Following transfer to the John Radcliffe Hospital, J’s DBS system had been interrogated and found to be faulty, with elevated impedances on the right intracranial seven electrode. J was transferred back to the ELCH for an urgent revision of her DBS system.

Dr. Y, Consultant Paediatric Neurologist with specialist interests in Motor Disorders, Neuromodulation and Acquired Brain Injuries, reviewed J on the day of admission to X and noted a significant decline in her appearance, consistent with a further progression of her underlying condition since the end of 2024. J demonstrated both more severe bradykinesia and hypokinesia (small amplitude of volitional movement) as well as more significant dystonic tongue and upper airway movements. Involuntary movements of her tongue and upper airway were noted to cause distressing episodes of airway obstruction, resulting in acute falls in J’s levels of oxygen saturation.

The impression of the treating clinicians at this time was that the increase of the frequency of J’s dystonia was more likely to relate to a progression of her underlying neurodegenerative condition than to the malfunction noted on her DBS system, but as a potentially minor procedure could correct this fault, it was considered appropriate to attempt a repair of the system. Accordingly, J was taken back to theatre on 14^th March 2025 for an urgent DBS revision surgery. Unfortunately, despite a replacement of her right intracranial electrode, the high impedances reported by the system did not improve. J was difficult to ventilate whilst under the general anaesthetic for this procedure, with significant bronchospasm (reactive narrowing of her lower respiratory tract airways) requiring high pressures to ventilate. A decision was made in the operating theatre not to undertake a more extensive DBS revision, and to transfer J to the Intensive Care Unit (ICU). She remained intubated and ventilated for this transfer.

J was extubated on 16^th March 2025. Following extubation, she was noted to experience episodes of upper airway dystonia, requiring airway opening manoeuvres (chin lifting and jaw thrusting). J was noted to be in distress during these episodes, with a drop in her oxygen saturations, as previously noted on X. The nature, frequency and extent of these episodes have become a central feature of this case and underpin the application made on behalf of the Trust. An elevation of sedative medications, with high doses of clonidine, chloral hydrate and nitrazepam, was required, which has reduced the number of episodes.