Rare Disease Day 2015

rareToday is Rare Disease Day!

Étienne’s condition is a rare disease but it is actually more common than we realize. It was thought to have affected an estimated 1 in 100,000 but a recent study suggests it might affect 1 in 58,000, almost double the previous estimate. In recent years, a number of the states in the USA as well as Ontario have started screening newborns for SCID. This is helping to give a more accurate estimate of the prevalence of SCID. I hope other provinces follow Ontario’s lead.

Étienne’s diagnosis is a blessing. There are so many people living with undiagnosed rare conditions, so we are lucky that we know what Étienne has. Because we know, doctors can give him the treatment and care he needs. We are fortunate that doctors have been researching SCID and makings advances so that the outcomes today are much better. I love our doctors, nurses and social workers at CHEO and Toronto Sick Kids. They take amazing care of Étienne!

I want to share with you this recent article about David Vetter. It’s a great article that shares details of his life, what kind of a person he was, and the things he loved. I have so much respect and love for David and his family. David paved the way for so many other children with SCID. There are so many others who have made our journey towards a treatment possible. You can read about Ashanthi DeSilva, who was the first person ever to receive gene therapy, in this New York Times article. She and Étienne have the same type of SCID.

It can be isolating to have a rare disease or have a child with a rare disease, so our family is very grateful for Scidmail, a email listserv for families affected by SCID. You can join if you are a parent, grandparent, or a family member of a loved one with SCID. Families provide support to one another and share experiences and insights. You can also join this list if you have lost a child to SCID. SCID may be rare, but we are not alone. Even with all the advances, it is not an easy journey, but I find it more manageable because I don’t feel alone. I’ve connected with other families and have found parents who understand the fear and anxiety of raising an immune deficient child, the difficulties of living in isolation, and the desire for a better and longer life for their children.

Thank you for keeping our family in your thoughts and prayers. Étienne is doing very well. He has no infections or fever. We have started the pre-gene therapy testing and are still aiming to leave in April. I am so excited for this. The research team at UCLA are so amazing! I am so glad that Étienne will receive this treatment. For now, Étienne is enjoying life as an 8 month old. He’s become very mobile so he’s keeping us busy. He has been making a variety of sounds, so that’s a lot of fun. We’re taking this time to appreciate life at home because we’ll be in the hospital soon far away from home and we’ll miss it.

Thank you for reading. I’ll share more updates as we go.

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