The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ is a charge for everyone to join the rare disease community in making known the impact of rare diseases. I am happy to share Curren's story, in the hopes that his voice helps to bring about change!
Curren’s first few weeks of life started out calm and beautiful. But he caught his first cold when he was 6 weeks old, and was perpetually sick for the next year and a half. We went to the ER at 4 months old due to respiratory distress. Shortly after, Curren was diagnosed with failure to thrive due to weight loss. Over the next few years, Curren’s growth and development remained stagnant as we desperately tried to pinpoint the reason behind his delays and regressions. We experienced incredible highs and heart-breaking lows, but mostly we felt isolated and alone. Eventually we arrived at an answer. Curren has a single-point mutation in the HIVEP2 gene that is predicted to affect brain growth and development, immunity, hormone production, and bone remodeling.
There is one other child in the US currently known to have a HIVEP2 loss-of-function mutation - our friend Ryann. Because our voice is so small, we have not found much in the way of understanding our diagnosis, or possible treatment/management options. We have no information about prognosis. The response from most doctors or programs is one of two: (1) You already have a diagnosis, we are here to help the undiagnosed, or (2) There is nothing more you can be doing to help your child. I can't accept the second response.
I have been doing research on the HIVPE2 gene function, and have found affected pathways that are also compromised in more well-researched syndromes that currently have treatment trials underway (Phelan-McDermid Syndrome SHANK mutations and HIVEP2 both affect SSTR-2 function, Rett Syndrome gene mutations and HIVEP2 both upregulate the NF-kB pathway, increased MGluR5 signaling is common to both Fragile X and HIVEP2). My biggest hope for the future is that a more comprehensive approach can be taken with rare diseases. What if one of the treatments for a more well-known disease could benefit Curren and Ryann (and possibly many others)? I spoke with the doctor overseeing the Phelan-McDermid and Autism Specrum Disorder IGF-1 clinical trials regarding the common pathways I had found, and if he thought that IGF-1 treatments might benefit Curren. The response was that it was likely, but we don't meet the criteria for any of the trials, and the IGF-1 treatments currently cost over $100,000 a year.
I am in awe of the advancements in the field of clinical and scientific research, but I wish there was a quicker way to apply broad findings to specific cases. It is heartbreaking to see Curren break down in frustration due to his current limitations with communication and mobility. I want so badly to give him every opportunity to be able to express himself and move independently. My mission is to keep my son happy and healthy, and I believe that will be best achieved through accelerating research and raising awareness.
My hope is that World Rare Disease Day brings a new level of awareness to a critical issue. More people are affected by Rare Diseases than cancer and AIDS combined, but many with Rare Diseases have no resources, support groups, or research opportunities. Please help Curren's and Ryann's (and all the beautiful others) voice be heard by sharing our story!
Like the Morrissey song, I wish every day was like Sunday. I love making peace with the chaos that the week before has left. It has been such a beautiful day today - windows open, listening to Billie Holiday, getting lots of smiles from the little guys. If I had a chance to pause life, it would be right now - to soak this face in forever:
So a few weeks back, we attended the ribbon cutting for an adaptive cafe at the UCF campus. The cafe is collaborative effort between Cole Galloway and Dr Jennifer Tucker, the team that created the UCF Go Baby Go program that built Curren's super cool car last year. It provides physical and vocational therapy for people with mobility challenges by incorporating a specially designed harness system that allows workers to move and function freely. We were asked to bring Curren to the ribbon cutting, to demonstrate the infant harness system, and were honored to be part of the event! Curren's brother and cousin came along to cheer him on, and it was so wonderful to see him at eye level with his peers. The harness allows him freedom and support, but most importantly brings his social experience and personal interactions to a whole new level Thank you UCF and Cole Galloway for your pivotal efforts. I can't wait to see the harness system used everywhere!
Curren is also doing lots of new, exciting things. He has starting waving hi and bye again, and he is doing lots of mimicking and imitation right now. He is working so hard, and making promising gains. All these wonderful people that are part of our team are helping Curren to be his very best, and it's pretty awesome!
This weekend, I attended a special education conference hosted by Brevard Public Schools and the Interagency Council of Brevard. I was super impressed by the amount of resources available and the quality of information presented. We connected with a few wonderful people, and received lots of helpful tips. The keynote speaker, Ashley McGrath, was especially impressive. A young woman with a rare genetic disorder affecting her bones and muscles, Ashley shared her story about constantly defying odds. Her autobiography, UnabASHed By Disability, is available for purchase on amazon (I ordered it last night and am really looking forward to reading it!)
As February draws to a close, a very exciting day is right around the corner. A rare day of itself, February 29th is World Rare Disease Day. The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients' lives. Here are some staggering facts about rare disease.
*Rare diseases impact more people than cancer and AIDS combined
I would love to see Curren's friends showing support for him and all others fighting rare diseases! Global Genes has some great social media graphics, I've included some of them at the end of this post. The World Rare Disease Day website also has some wonderful information and personal stories of those fighting rare disease (Curren's story is included on their website!) Thank you everyone!
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.