Wendy Aqui focuses on raising Huntington’s Disease awareness
Imagine losing control of your physical and psychological faculties, even your ability to swallow, while having full mental awareness of what is happening and witnessing complete changes in your personality.
For the past 15 years this has been the experience of the members of the Aqui family who have been diagnosed with Huntington’s Disease (HD).
Former principal of Holy Name Convent, Port of Spain, Wendy Aqui told Sunday Newsday her husband was diagnosed at age 40, and her two adult daughters, both now in their 30s, were diagnosed shortly after. Aqui describes the disease as a combination of Alzheimer’s and Parkinson’s – but her experience reveals it to be much more.
Huntington’s disease is an inherited disorder that causes nerve cells in one part of the brain to gradually break down and eventually die. The symptoms include:
Poor co-ordination and motor skills
Tripping and physical instability
Mood swings, aggression and irritability
The Aqui family emerged as an unintentional advocate for HD in Trinidad and Tobago, when in 2020 their situation was highlighted in the media. Aqui said her focus now is on raising awareness that could lead to action and support for others in the local HD community.
Notwithstanding the obvious challenges she faces as the primary caregiver for her husband and daughters, she redirected the spotlight away from herself to the HD patients and their families who exist in the shadows, facing what feels like insurmountable challenges.
“From having a family with Huntington’s Disease, you realise that people misunderstand them and if persons are not diagnosed early, they can lose their jobs,” among so many other losses.
Often, job losses may not be on medical grounds, but due to the HD symptoms like personality changes.
“It becomes very hard to reason with them (HD patients), and some arguments become impossible to settle, as they can become irrational. They are affected emotionally and psychologically. It’s very complicated.”
A holistic approach is required to address HD, and Aqui believes HD patients, or those suspected of being carriers, should be afforded therapy and psychological guidance both before and after testing. She said the anxiety associated with knowing that you may test positive for a disease as debilitating as HD, for which there is no cure, puts tremendous pressure on both patients and caregivers.
“Not knowing is one problem, and knowing is another.”
The unavailability of data on the numbers of people with HD has made it difficult to organise and mount a formal lobby to seek governmental and other support locally. As a result, she said, most families have not been able to manage their lives properly in any meaningful way, as neither insurance coverage, nor government initiatives such as disability grants are available to HD patients, owing to very specific requirements which must be satisfied.
“The people out there with HD are at a loss; they have very little hope.
"Even when you are diagnosed with cancer, there is still some hope for healing. But this illness has no cure, so basically what you are doing is treating symptoms and managing lives.”
Aqui is a reservoir of information and a major resource within the community. Over the years, under the supervision of numerous local and foreign medical professionals and supported by her family and network, she has witnessed successes and failures in treatment, expensive medication and options for managing HD symptoms. She has learnt how to balance treatments and determine which combinations of medications will bring her loved ones the best outcomes. Even when some doctors give up and suggest nothing more can be done, she persists.
“When my children went through speech therapy, at the end of it all the doctor gave up on them, but I didn’t give up.”
She said there was a time when one of her daughters couldn’t swallow, and she contacted the therapist to ask her if she was familiar with a "swallow test" – used to help diagnose certain diseases and conditions. She was dismissed and told it was just the progression of the HD, and that going forward she would have to feed her daughter by tube.
Aqui did her own research, narrowed down which medication was the problem and made the necessary adjustments. She also had to use this approach to manage the incidence of chorea (involuntary jerking movements) in her loved ones.
While she appreciates the support and attention her family has received, it’s more important to her that people are educated about HD.
“What is urgently needed is education of persons who have HD, or a family history of HD, then they have to be tested, and then, long term, improving their quality of life.”
The quality of life is what Aqui is focused on at present. Her husband and children are basically confined to their home because of the lack of understanding of HD.
“Their movements are misinterpreted; people feel that they are intoxicated or on drugs…”
When she is out with her daughters, most people just stare; too few ask questions. As a result she is researching the creation of tags or cards that HD patients can use to be identified generally, and more specifically for emergencies. She hopes this can be successfully introduced despite the reluctance of people in the community to be identified as having HD, for fear of discrimination and stigma.
“It’s like years ago, when people were hiding their children who had Down’s syndrome: similarly, people with HD have their loved ones locked away.”
Every stage of this disease poses a challenge, she said, and they are all difficult. For the caregiver, the final stage is easiest, because the patient is bed-ridden and easier to manage physically.
Being a care provider for multiple patients poses further difficulty for families like hers, since HD does not follow a fixed progression. Each patient exhibits symptoms at different stages; so physical aggression may appear early in one patient, while another may show that symptom later. This makes it possible for a caregiver to find him/herself having several sleepless days and nights, as each patient experiences symptoms at a different time of day.
“Everybody is different, because everybody has a number called a CAG (cytosine adenine guanine – three of the four bases in DNA). When you do a test, they will tell you what that number is. The higher the number, the worse the outcome is in terms of the severity of the symptoms.”
Aqui thinks it’s critical that the level of testing nationally has to increase. She knows of a family in which eight members have tested positive. She said there is need for exposure, education, sensitisation, and increased awareness. However, this is where the movement gets thrown into a loop.
“…It’s somewhat like covid. You have the symptoms, but don’t want to test because you don’t want the quarantine, etc. Similarly, some people don’t want to test for those reasons; but others do, because they want to prepare their lives, and they want to know if they can have children and things like that.”
Unlike some other diseases, where both parents have to be carriers to pass it on to the child, HD is passed on genetically even if only one parent is a carrier. She explained that people with HD are in fact having children, but the safer, though more expensive option is to use in-vitro fertilisation (IVF), since there is a method of removing the gene to prevent the HD gene from being passed on to the child.
IVF expenses are not the only financial burden on this community. Medication, care support, specialised beds and wheelchairs and surgical procedures are among others. In addition, she said, the community would benefit greatly from the existence of affordable activity centres where patients can be taken periodically for engagement and therapy.
But in spite of the challenges in getting a formal organisation in place Aqui works hard to keep a small group of families connected via a WhatsApp chat, which she estimates has about 20 members. She suspects the numbers of families affected may be significantly higher. Later this month, the group proposes to host a meeting via Zoom and hopes to come closer to finding out the actual numbers.
Aqui’s relationship with local neurologists has let her meet and engage with international specialists such as Dr Sylvan Chouinard, head of the HD society in Canada. She said these have been invaluable relationships, as has the support she receives from her siblings, her Holy Name Convent family, friends Priya Gomes-Mora and Andrea Kelsick, and “…most of all, God for giving me the strength and courage to help my family survive HD.”
She reminds families that they are not alone in the struggle.
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"Wendy Aqui focuses on raising Huntington’s Disease awareness"