Tully’s Story
Our little boy was born at Christmas time during the COVID-19 pandemic in 2020. He was born early due to a pregnancy complication known as Premature Preterm Rupture of Membranes (PPROM). There were some setbacks after birth with feeding difficulties and jaundice, and he had some neck weakness too (which we put down to him being premature). As he grew, we saw his little personality come to light – a cheeky, loving and adaptable lad who loves animals, diggers and playing with balls.
While we were loved-up with our cheeky monkey and in many ways felt like our family was complete, like many parents, we started to think about having a sibling for our son. Due to a rocky road to conceive our boy, a difficult postpartum recovery, and other personal factors, we decided to have a large age gap between our son and our next child. Given my struggles with fertility and advancing age, we elected to go down the path of egg/embryo freezing to give us more of a chance of achieving this wish for our family.
At the very start of this process, my (new) fertility specialist recommended that my husband and I have genetic carrier screening done, which was commonly done prior to this sort of procedure. We were enrolled in the Mackenzie’s Mission study and had reproductive genetic carrier screening performed by sending away a saliva sample. We didn’t think much else of it and carried on with our lives.
In February 2022, we received the phone call that turned our world upside down. We were told that both my husband and I were carriers of a very rare genetic disease called Pompe disease. Initially, we were very relieved to have this news, as it meant that we would be able to take measures to ensure that our next child would not have the condition. However, our blood ran cold when the specialist said that this result also applies to our current son, who she advised had a 1 in 4 chance of having the disease, even though he appeared to be healthy at the time. We couldn’t come to terms with the fact that our son had a 1 in 4 chance of having a disease that less than 70 people in Australia have.
The fertility specialist said that the next step would be a telehealth call with a specialist genetic doctor and a genetic counsellor, and that we would have to wait till then to receive more information. Immediately after hanging up the phone with the fertility specialist, I turned to Google, which was the worst possible thing I could have done. All I could see were the words fatal, progressive, incurable. I felt physically sick. It felt like a lifetime before I was able get in contact with a professional who could give us more information. Shockingly, at this stage, we did not know that if our son did have the condition, what severity of illness our genes could produce in him, and whether he could potentially inherit an imminently fatal form of the disease.
Two agonising months later, in April 2022, when he was 16 months old, we found out that our son was the “1 in 4” and had inherited the very rare condition from us. I blanked out during this phone call and hung up on the specialist. The grief was immediate and profound. I phoned the president of the Pompe Association in a panic, who was very supportive, and got me in contact with another Mum in another state, who had two boys with the condition, and who has been a continued source of advice and reassurance.
Once we could gather ourselves together, we were told that he had inherited the “late onset” form of the disease (rather than the extremely severe “infantile onset” version, which is often fatal by 1-2 years of age). Of course, there was some relief, but there were still so many unknowns. We were told that the late onset version of Pompe disease could manifest at any stage from childhood to adulthood and had a wide spectrum of severity (with the severely affected patients being wheelchair and ventilator dependent). We were advised that there was a treatment, involving regular intravenous infusions of the enzyme he is lacking, for the rest of his life, but there was no cure, and that the disease is generally progressive despite treatment. However, research was underway for gene therapy (and this looked hopeful, but perhaps not available for another 10 years or so). We were reassured that despite it being a rare disease, that there was interest and traction globally with the condition.
We were told that we were very lucky to have caught it early before significant muscle damage had occurred, and the earlier the diagnosis, the better the outcome. We have since learned the saying “time is muscle” which is often voiced within the Pompe community. We have since learned that many patients are misdiagnosed with other conditions, or taken on a fruitless diagnostic odyssey, leading to continued muscle deterioration.
Tully was diagnosed with Late onset Pompe Disease
From the initial shock came the emotional rollercoaster and stress of having a “patient in waiting.” We eventually found some information that indicated that he would likely begin to become unwell with mobility and/or breathing issues between the age of 5 and 15 years old, as this was the age range that other patients (only three, given it’s so rare) with his exact genetic makeup began to show significant symptoms. However, during the initial investigation process to get a baseline of where his health was at, it was found that he already had abnormalities showing on his muscle tests, liver tests and urine tests. Physiotherapist assessments revealed subtle but significant deficits.
With this constellation of markers put together, it indicated that he was going to fall in a much earlier age category than expected. This was a huge emotional blow, as we thought that we would have a few more (or even 10+) healthy years with him. Whist to the untrained eye, he appears ‘fine’, it has been difficult to know what is going on internally with him and not watch him like a hawk for any development of further symptoms. It has been challenging and emotionally taxing to explain to friends and family what is happening, especially when we don’t have all the answers (and in the rare disease space, no one does).
At the time of writing in December 2022, it has been 10 months of uncertainty, stress, grief, denial, fear, fierce advocacy for our son, and many hours of reading scientific articles, researching, and making countless phone calls and sending emails to people all over the world. He has been to many medical appointments in Melbourne with metabolic specialists, a neurologist, general paediatrician, paediatric physiotherapists, speech pathologists, dieticians, an audiologist, and has had blood tests, urine tests, heart scans and ECGs, a skin biopsy, and saliva tests. He is soon to have a full body MRI under general anaesthesia to assess his muscles for excess glycogen deposits, and this will need to be periodically performed for monitoring.
Given his most recent lab results, the advice from the global expert on Pompe (Dr Kishnani from Duke University in the USA) has been that infusions will need to start much sooner than what we initially hoped for. He will have to have a permanent port placed in his chest to allow access to his circulation for the fortnightly enzyme infusions, which can only be done at a specialist children’s hospital at this time. Unfortunately, there is not a hospital of this kind in our hometown. The infusions are life-long until another option is available, and we are hopeful that we will be able to arrange home infusions at some point in the future.
Fortunately, in September 2022, an updated version of the enzyme replacement became available and there have been some promising results compared with the previous option, but the route of administration is the same. We need to wait until he is 24 months old to receive this treatment due to restrictions on the drug, which fortunately is just around the corner. He will still need regular specialist assessments, MRIs, blood and urine tests and possibly biopsies of his muscles for ongoing monitoring.
Whenever he has an unexplained fever, he will need to be hospitalised for blood culturing and intravenous antibiotics as the doctors need to assume the port (and therefore bloodstream) is infected until proven otherwise. Hydrotherapy and physiotherapy have been recommended ongoing.
The treatment he needs is on the Life Saving Drugs Program, thankfully. We are hopeful that there will be some good results with clinical trials that are underway. If gene therapy trials are successful and this option becomes available to our son in the future, we will be able to stop the infusions, but there are still so many unknowns, and we are tempering our expectations.
As harrowing as it has been to receive the news that your apparently healthy son has a severe illness and have had this very difficult period of limbo, we are forever grateful that we were able to have our son diagnosed so early in his disease course. We love our boy so much and will do whatever it takes for him to have a good quality of life, which has been made more achievable due to this chance discovery at an early age. The burden of knowing about his illness ‘early’ is a small price to pay for the long-term benefit that this knowledge imparts. To that end, we are strong advocates for newborn screening; which is NOT currently being done for Pompe disease in Australia, though is common place in places like USA and Taiwan. Without an early diagnosis of this condition, babies are currently dying from the infantile onset version of this disease IN AUSTRALIA and this needs to change.
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