המסע הנדיר שלנו בתוך ה-10%

During CF Awareness Month, Emily’s Entourage invites members of the cystic fibrosis (CF) community to share their stories. Today’s blog post is by Gareth Davies, the parent of a child with CF.

Reginald (Reggie) Lloyd Davies was born on June 11, 2018 at 11:48 a.m. He weighed in at 8 lbs, 6 oz. at Singleton Hospital, Swansea, South Wales, UK. After three weeks of worry and anguish as Reggie needed to stay in an incubator with jaundice, he had the mandatory newborn screening blood testing. I remember asking Reggie’s mom Cara, “what do they test for?” and she replied, “oh it’s for random diseases.” We did not think anything of it as we were both healthy with no family history of anything concerning.

At one month old, we were finally allowed to take our new bundle of joy home. Those outstanding test results were far from our mind. At work that day I received a phone call from Cara, who was very upset, so I headed home immediately. I saw Cara cuddling Reggie and sitting with a woman dressed in scrubs from the hospital. She introduced herself as part of the CF team at Morriston Hospital Swansea, and she had the results from the newborn screening 

Cara had already been told the news that Reggie was suspected to have cystic fibrosis (CF). Forty-eight hours later, the sweat chloride test confirmed our baby had CF. It was life shattering.

Nothing can prepare you for such news that your newborn baby has a life-limiting lung disease.

Immediately Cara was on it, reading research papers, peer-reviewed journals, and trying to find out everything possible on this earth surrounding CF and what the future possibly held for Reggie. Cara pushed the staff within the CF team for answers and extra things that we could do for Reggie. They would say, for example, that he needed a physiotherapy session once a day, but we would do a minimum of two — sometimes three. We always went above and beyond the basic requirements and recommendations, and this continues today. 

Along with research, we also did what many others would do in this situation to find support. We searched the internet and social media to find others in our position. We were happy to find a handful of social media influencers with CF. They were inspirational with fundraising and sharing their stories as well as helping others in the CF community.

Just as we were finding our online community and comfort, things rapidly changed in the CF world as the groundbreaking new drug, Trikafta, was approved. The news was just unbelievable. There was finally a treatment option to give people with CF real hope. Upon further research, we learned that this new life-changing drug only worked for those with at least one copy of the F508del mutation. Immediately, we went to get Reggie tested. Weeks later we would find out that Reggie had two very rare genetic mutations. He would not benefit from this miracle drug. We were completely brokenhearted. 

The highs and lows were incredibly difficult. From the hope of a potentially lifesaving treatment to the despair of learning it would not work for Reggie.

Furthermore, the CF community now felt divided — those with the ‘lucky’ CF mutations, and those without. Seemingly overnight, the social media accounts that gave us comfort and a sense of community were now not talking אֶלֵינוּ, or sharing in our experience. We felt so isolated and alone — at first mentally and emotionally, but soon after physically as well due to COVID restrictions, which added a whole new host of problems for us to navigate.

What was once an energetic and welcoming community became at times a hard and unpleasant place to be. A place we turned to for support became a place that caused us stress and anxiety. We felt like the sense of community we had clung to had been lost, and we felt hopeless, alone — forgotten. 

However, amongst the fog of despair, a shining light was beaconing. This was the amazing Emily Kramer-Golinkoff and her non-profit organization, Emily’s Entourage (EE). We were so thrilled to find EE at this time because Emily’s story resonated with us so deeply, and we were once again filled with hope and excitement.

Even though we faced so much uncertainty — and still do — EE provides that glimmer of hope that shines above the rest for those of us in the final 10%.

Armed with the support of our new community within the 10%, and with COVID in its second major phase and lockdown looming, we moved to a new house with more space for our busy toddler. Reggie was around two and half years old, and we started to notice his behavior was not that of a neurotypical child. He was refusing his physiotherapy sessions as well as his digestive enzymes, which are both critically important to maintaining his health. 

We reached out to our primary care doctor and CF team to ask for Reggie to be assessed for Autism Spectrum Disorder (ASD). We knew the diagnosis would be critical — especially in coordinating with his CF team who were making recommendations related to his physiotherapy and calorie intake, but were not fully understanding or considering how difficult his day-to-day care had become. 

After multiple assessments, Reggie was diagnosed with ASD and Attention-Deficit / Hyperactivity Disorder (ADHD) with a Pathological Demand Avoidance (PDA) profile. Having both PDA and CF is very difficult because those with PDA need complete body autonomy and control of all of their decisions, and it is difficult for them to be told what to do.

With these boundaries being broken due to the nature of his CF care, Reggie experienced crippling anxiety, which led to a fight or flight reaction, even at times becoming violent as he was very scared. Furthermore, these episodes were followed by two to three challenging days, which impacted his CF treatment he so desperately needed. 

This was a monumental learning curve and turning point for us — and one we had to come to terms with as quickly as possible to keep Reggie as healthy as possible. Reggie started to lose weight and things were again looking dark for his future. Our home was a pressure cooker of stress and anxiety. Yet in good form, Cara did hours and hours of research into PDA to find the right answers and figure out how we could make his life easier and more manageable. PDA is still very new amongst the ASD community and there is some reluctance to even diagnose children with it; but fortunately, the doctors at Swansea were supportive of this diagnosis. 

This diagnosis and the insight it brought was so critical for us because it allowed Reggie’s CF team at the hospital to finally understand our situation. Thankfully, they are now willing to accommodate Reggie’s unique needs and have worked with us to find a way to make hospital visits a lot less traumatic for him. For instance, when a new doctor joined the CF team at our clinic, we held our initial meeting with Reggie outside of the hospital and had a nerf gun battle! This was a creative and fun way to win Reggie over and build positive associations so he wouldn’t be afraid of the hospital. We are very grateful to the team for the efforts they have made since Reggie received his ASD diagnosis. We are now hopeful he can have a healthy relationship with the hospital which is crucial for his health and well-being. 

Our journey within the 10% of the CF community has been unique. We recognize Reggie is a rare case within a rare subset of a rare disease. We have faced challenges, and we have experienced lots of highs and lows, but we are committed to raising awareness so that one day, Reggie – and everyone in the 10% – will have a treatment option.

To us, community is very important because it can shed light on current information that you may or may not know, but also to let you know that you are not alone. 

CF is a lonely, isolating disease — and coupled with ASD, it complicates things tenfold. EE is always updating its social media channels with every little piece of progress as well as research and news, which helps massively and gives us hope. We are not alone, and progress is happening everyday.

Our biggest hope is that everyone in the 10% has an effective treatment option like the other 90% of people with CF all over the world. We want Reggie —  and everyone in the final 10% —  to be given a chance to live a long, healthy life without complications. This community gives us tremendous hope. It helps us know we are not forgotten; we still matter.

תודה מיוחדת ל-Vertex Pharmaceuticals, Inc. על החסות שלהם ברמה 1 לקמפיין חודש המודעות שלנו ל-CF.

מְחַבֵּר

Gareth Davies

Gareth Davies is a former infantry soldier and currently works for Fitness Health Ltd. providing fitness equipment and supplements throughout Europe. He and his son Reggie live in Swansea, South Wales, UK