Help Us Save Amari’s Future

Help Us Save Amari’s Future: Support His Journey Toward Independence

Our beautiful son, Amari, was born on January 3rd. In the beginning, he appeared to be a healthy, typical baby. Despite a traumatic labor, an unidentified infection, and jaundice, we were discharged from the hospital with confidence, believing our baby was fine and ready to settle at home. For a moment, everything felt perfect. However, we soon faced challenges that no one could explain: excessive vomiting, inconsolable crying, irritability, and sleepless nights. These symptoms were initially attributed to colic or reflux disease. It was exhausting for him—and for us as well. Our concerns were constantly dismissed by our GP, with one even going as far as to suggest that my wife, as a first-time mom, wasn’t “handling motherhood well” and that it was all due to her anxiety. She felt disheartened and, for a moment, began to believe it. We know many babies suffer from colic or reflux, but deep down, she knew this wasn’t just that—it couldn’t be. Despite trying everything to alleviate his symptoms, nothing helped.

After persistent advocacy, when Amari was around 5 months old, we encountered a compassionate consultant who noticed his unusual stiffness. This led to his admission at our local NHS hospital for monitoring and further investigation. Tests revealed elevated lactate levels, prompting a transfer to Evelina Children’s Hospital for more evaluations, including bloodwork, a lumbar puncture, MRIs, and genetic testing.

After what felt like an eternity, we received the devastating news: Amari had suffered a stroke (possibly multiple). His brain MRI showed microhemorrhages and an abnormal fold. Our hearts shattered as we struggled to understand the implications of this news. The cause remained unclear until genome sequencing revealed an ultra-rare genetic mutation, COL4A1, also known as Gould Syndrome. This mutation affects multiple systems in the body and is found in only about 500 cases worldwide, understood by only a handful of medical professionals globally. The mutation was de novo, meaning it occurred spontaneously in Amari; neither my wife nor I carry the mutation. We were, of course, shocked, speechless, and heartbroken, and as any parent would, we questioned, "Why us? Why Amari?"

So, what does this mean for Amari moving forward?

Sadly, this diagnosis presents significant challenges. Amari faces global developmental delays, microcephaly, movement difficulties due to hypertonia and muscle spasms (suspected quadriplegic cerebral palsy), potential vision impairments, a high risk of epilepsy, further strokes, and cardiac and renal issues. If he is ever blessed to walk, he will also be unable to participate in activities that could cause trauma to his head or overexertion, such as sports like football, basketball, or going to the gym—things we often take for granted.

Despite these challenges, we refuse to accept a bleak future for our son. Amari is a fighter, showing resilience from the very beginning. He has already overcome an unidentified infection, stroke(s), and jaundice like the warrior he is. His strength and infectious smile inspire us every day. We believe he deserves the chance to reach his full potential, even on the difficult path that has been laid out before him.

The Ask:

To give Amari the best chance at independence, he needs specific therapies and specialised equipment that can profoundly impact his motor development. Unfortunately, these are either unavailable or not covered by the NHS. NHS services are limited, under-resourced, and overworked, making private resources crucial to his early years of development. These private treatments, however, are extremely costly.

It is heartbreaking to watch your child struggle and be told that his prognosis is unknown. To feel powerless in shaping his future is indescribable. There is nothing we wouldn’t do to see Amari happy, pain-free, thriving, and hopefully able to lead as normal a life as possible.

We are seeking your support to provide Amari with life-changing treatments, therapy sessions, and specialised equipment. Every donation, no matter the size, will directly contribute to his care and development.

The Goal:

We aim to reach our fundraising target for one year’s worth of therapy and equipment for Amari. If we exceed this target, we will donate a portion of the funds to the University of Sheffield, a world leader in gene therapy research, which is currently working on gene therapy for COL4A1-related disorders. To learn more about this, please visit: [University of Sheffield COL4A1 Research](https://www.sheffield.ac.uk/giving/causes/research/col4a1#What%20is%20COL4A1).

Thank you for your kindness, love, and support as we embark on this journey to give Amari the best possible start in life. If you'd like to follow Amari’s progress, feel free to follow his Instagram page @themightyamari.

With love,

Leon, Teema, and Amari♥️