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From the earliest weeks of Milo's life, our family embarked on a journey marked by both challenges and determination. Despite a normal pregnancy, full-term birth, and unremarkable newborn screens, we began to notice subtle differences. When Milo was just a few weeks old, we noticed his right upper eyelid droop, but at the time we thought this might be a familial trait, as his father also had a slight ptosis. However, as the weeks passed, we began to note more subtle deviations from the typical development of our first child.
Around four weeks of age, Milo began experiencing choking episodes during feeds, prompting us to seek help. A visit to an ENT specialist resulted in the correction of a tongue-tie, which initially improved his feeding and put us at a temporary ease. However, Milo soon developed Torticollis, a condition where the neck muscles tighten and we promptly began physical therapy at four months of age because his gross motor milestones were noticeably delayed. Our concerns were once again at the forefront when Milo’s pediatrician noticed hypotonia, or decreased muscle tone, at his six-month wellness checkup, We requested a referral to a neurologist in January 2020.
Initial tests, including normal levels of creatine kinase (CK) and a microarray that revealed a non-diagnostic microdeletion of 2q13, left us with more questions than answers. To delve deeper, we underwent whole-exome sequencing, which uncovered variants of uncertain significance on COL6A1, COL6A2, and FOXP3. Suspicion arose regarding FOXP3's potential link to IPEX Syndrome, leading to T-cell studies at the Mayo Clinic. Fortunately, these tests were normal, and FOXP3 was deemed likely benign.
The COVID-19 Pandemic had emerged, and all doctor and therapy appointments August 2020, Milo underwent an MRI, initially reported as unremarkable. We followed recommendations for ongoing therapies and awaited future consultations with neurology and genetics. Milo's developmental journey unfolded slowly, with milestones such as belly crawling at 11 months and unsupported sitting at 18 months. However, we observed that his skill progression had stagnated, causing growing concerns. His speech development was similarly delayed, with only a few words spoken.
In August 2021, as Milo's developmental progression continued to stall, we sought further clarity. The MRI conducted in September 2021 revealed subtle brain abnormalities in the basal ganglia, previously unnoticed. Milo's condition had become a complex puzzle, and with his development plateauing, we recognized the urgent need to delve deeper into his medical journey. It was a pivotal moment that raised even more questions. It was only later, following the MRI results, that we received the trio whole-genome sequencing, revealing biallelic AFG3L2 variants and an affirmative diagnosis of Spastic Ataxia Type 5.
Milo’s regression was gradual, without sudden episodes during illnesses. Although he could still follow simple commands and retained a basic level of motor control, recurrent hospitalizations in the fall of 2022 were prompted by suspected absence seizures, despite negative EEG results. Lactate levels peaked at approximately 6.7 during this time, leading to concerns about his nutrition and dysphagia. In October, Milo received a G-tube for improved feeding, and his medical regimen expanded to include a full mito cocktail, in addition to CoQ10. Despite increased caloric intake, his weight remained largely unchanged.
Milo's linear growth posed further challenges, leading us to consult an endocrinologist who initiated growth hormone therapy due to low IGF1 levels. A pituitary MRI showed a smaller-than-average pituitary gland. However, this therapy introduced a mild tremor, initially observed when holding Milo. Neurology prescribed clonidine but later discontinued both growth hormone and clonidine in June 2023 due to the emergence of a pronounced “pill rolling” Parkinsonism tremor, affecting his hands and facial muscles, accompanied by dystonic posturing in his arms. Klonopin was introduced to alleviate tremors but Milo's condition continued to evolve, with myoclonic jerks and suspected seizures. Neurology recommended Keppra and continued use of Klonopin, with improvements noted in hand tremors as of August 2023.
Although Milo’s tremors have temporarily improved, we've witnessed the relentless progression of his disease over time. Our once-vibrant son, who had worked so hard to achieve developmental milestones, now faces unimaginable challenges. Milo has lost many of the skills he fought so diligently to attain in rigorous therapy sessions.
Milo, who once had a handful of words to articulate his wants and needs, now struggles to communicate. His ability to move around the house, whether through army crawling or the use of a gait trainer, has diminished. Holding his head up without collapsing or even rolling over in his own bed has become a daily struggle. While his hand tremors may have subsided, he now has very limited functional use of his hands, with a weakened grasp and an inability to perform even simple tasks, like waving goodbye or pointing his finger.
With each passing day, week, and month, we witness the devastating progression of this disease, living on the precipice of uncertainty about Milo's future. The profound and relentless impact of this condition has reshaped every aspect of our lives. But Milo's story is not just about one individual; it represents a beacon of hope for all those affected by rare diseases. As parents to one of only twelve documented cases, we are committed to giving Milo a brighter future, and hopefully every child touched by this rare disease.
Time is not on our side. The relentless progression of Milo's condition is a stark reminder that we cannot afford to wait for the future of precsion medicine. Rather, we must pave our own journey towards a targeted therapy -- bringing hope to Milo and others who may benefit from our tireless pursuit of a cure for his nano rare disease.
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