Brooke has Generalized Primary Torsion Dystonia (rare degenerative form) and underwent Deep Brain Stimulation (DBS) surgery.
Brooke’s Story
Brooke lives at home with her Mum, Dad and two older brothers Mitch and Jon. She has a love of life and never allows anything to stand in her way. She loves to go swimming. She loved to play baseball and tennis but unfortunately the degeneration of her disorder has now prevented her from doing that.
Brooke was born in 1997. In January 1999, her parents, Sue and Tom started to become concerned that Brooke was not developing and meeting her milestones. Whilst both their older children had walked and talked before 12 months of age, Brooke was showing no signs of achieving this and so after many Doctors appointments in May 1998 they were told that Brooke had a form of Cerebral Palsy known as Ataxia, which affected her balance and caused her to fall over whenever she stood up, and that she also had a severe form of dyspraxia which would mean she would never be able to speak. The medical team treating her were concerned that she did not have any brain damage that could explain her condition, however a regime of physio, speech and occupational therapy was begun at the Cerebral Palsy Education Centre and Brooke was taught to communicate using a multi-level communication book, an electronic communication device, sign and keyword gesture. Lots of hard work in learning to communicate, walk and balance, and by 4 years old Brooke was able to walk independently and communicate with her friends, joining her peers in mainstream kindergarten and then primary school. Things were looking positive for her.
Unfortunately at age 9, Brooke and her family were to learn over a period of several months Brooke’s exact diagnosis. After noticing that Brooke’s spine had suddenly developed a severe curvature, that her feet and hands were turning inwards, Sue and Tom were told that Brooke had an extremely rare condition known as Early Onset Generalized Primary Torsion Dystonia. This condition is usually a genetic condition, however in Brooke’s case there was no known reason for her developing this, it is rare and is degenerative.
Within a matter of months, Brooke lost the ability to walk independently, her body racked with painful contortions and constant shaking, her only relief from the condition when she fell asleep. Early Onset Primary Torsion Dystonia has no known cure and it affects every facet of Brooke’s life and body. Brooke has the severest form of the disease and there is no part of her body that is not affected by it, from her face to her feet. Over the past four years she has endured endless trials of drugs in an attempt to try and stop the progression of the disease. She has had her highs as some of the drugs have given her short term relief from the disease and some very bad lows as once again the Dystonia has reasserted its control over her body and life, but all through this she persevered, getting up each day and heading off to school.
In 2010 Brooke was implanted with an intrathecal baclofen pump in an attempt to reverse some of the effects of the Dystonia. No-one knew if this treatment would work for her, however it was a chance that had to be taken to give some of her life back free from the effects of the disease, and whilst it has had a significant impact on controlling some areas of the disease, Deep Brain Stimulation where electrodes are implanted in her brain with a pacemaker to disrupt the wrong signals her brain sends to her body and that cause the painful contortions and shaking of dystonia is now being considered for her. Just to add to the challenge of the disease recently Brooke has spent time in hospital as she battles a “dystonic crisis” where her every part of her body is contorted painfully at once.
For Brooke the shadow of Dystonia and its effect is never far away. Over the past 3 years she has lost the ability to walk independently. No two days are the same for sufferers. Every day she wakes up is different, with a different set of challenges to deal with. She needs a full time aide at school to help her access the curriculum and is dependent on others to assist her throughout the day including bathing, toileting, dressing and accessing the curriculum at secondary school. Brooke does not have an intellectual disability but does have very severe communication difficulties, cannot speak from her dystonia. She needs to use a communication device to communicate, read and write.
In 2014 Brooke had Deep Brain Stimulation (DBS) as the Dystonia had progressed to a stage that she was no longer able to do anything for herself and required 24 hour intensive care. She was losing weight rapidly and she could no longer eat or sit up to eat, so she needed to be fed by a Percutaneous Endoscopic Gastrostomy (PEG) a soft tube placed into a hole in the stomach by a surgeon. She was in constant pain, her body twisting and locking into painful postures. Her family never knew from day to day what would happen and spent many, many weeks rushing to Emergency and then in hospital trying to manage the pain and constant movements. By the time DBS was suggested they knew that it was her only hope for a life free from some of the effects of her Dystonia.
She has had remarkable or noticeable results from it, which has surprised everyone. She is now back happily enjoying life, not completely free from her dystonia, but certainly 80% better than she was prior to it. She now laughs again, enjoys going out with family, is back at school full time for the first time in 4 years and is pain free. Brooke and her family have no idea if she will ever regain her ability to walk again but they are certainly more optimistic about what lies ahead. Having been through a journey with Dystonia they all now embrace the day, enjoying what they have now and don’t try to look back too much at what was.
But despite all that she battles daily…
Brooke still greets each day with a big smile.
This is 4 year old Brooke when she was able to Jump. Image for the Jump for Dystonia Down Under. And she loves cats!
Related story: A Deep Brain Stimulation (DBS) Journey – Through the Eyes of a Carer ↗
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Australian Dystonia Support Group 