Hey friends and family,
This post is going to be a bit longer than normal, but it would mean so much to Holly and I if you took a couple extra minutes out of your day to read it.
I’ll cut right to the chase. Earlier this year we learned that our daughter, Beatrice, has a rare genetic disorder called Rett syndrome. We won’t sugar coat this—it’s not a good diagnosis. Rett syndrome is a regressive disease that almost exclusively affects girls. More than 350,000 girls around the world are living with Rett syndrome.
Rett syndrome is associated with a gene called MECP2 on the X chromosome. When there is a mutation on that gene, it commonly results in Rett syndrome. Beatrice has a deletion on the MECP2 gene, meaning part of that gene is missing. Because of this, Beatrice has experienced delayed development.
We first started noticing delays as early as 9 months when Bea was struggling to sit up, then crawl, then walk. She eventually hit these milestones, but it took longer than most kids. We found out she was delayed in cognitive, language, and motor skills. We so badly wanted to believe that Bea was just developing slowly, but she would eventually catch up. We eventually decided to take her to a neurologist for more clarity. Through lab work, we discovered this deletion on the MECP2 gene.
Typical Rett syndrome looks like a period of normal development followed by regression. Many girls with Rett syndrome lose the ability to walk, talk, and feed themselves. They often lose functioning of their hands. Many develop breathing problems and have seizures. Rett syndrome is often described as autism, cerebral palsy, anxiety disorder, Parkinson’s, and epilepsy all rolled into one. It is a cruel disease.
Beatrice is more atypical because she hasn’t really had a period of normal development that we can point to. Beatrice can walk and is able to use her hands. She has not developed any consistent speech and we are unsure if she ever will.
We know of many girls with Rett syndrome who are in their teen years, 20’s and 30’s who are still able to walk, feed themselves, etc. We are praying that Beatrice will never lose these skills. You can’t really predict if, when, and how regression will happen in Rett. We just won’t know until she gets older. The unknown is hard and it often feels like a heavy weight.
As you can imagine, many tears have been shed over this. Grief has hit us in waves. It’s hard to not dwell on all the things your child won’t be able to do. It’s tempting to go there and want to stay there.
But then we look at all the things Bea can do! She loves books, running in big open fields, swimming, bubbles, eating all kinds of food, laughing, tickling, and we could go on and on. The point is, we love getting to be Bea’s parents! She gives us so much more joy than any heartache we have felt. For every tear that we have shed, there’s been a lot more laughter and joy. We love love love Bea more than words could ever express! She is a treasure and God’s good gift to us.
While there have been moments that we have wrestled with God, we believe that God did not make a mistake when he made Bea. While we did not expect this diagnosis, we believe by faith that God is in control and is working all things for our good.
So before we sign off, we wanted to share one more thing. One of the advantages of Rett syndrome is that a single gene causes it—the MECP2 gene. What this means is that scientists can narrow their research on that gene as they look for a cure for Rett syndrome. So far through Rett research, Rett has been reversed in lab animals and the first human trial for gene therapy is going through FDA approval now and should start next year. Huge progress has been made thus far thanks to research and fund-raising! Holly and I have become involved in an organization called ‘Rett Syndrome Research Trust’ (RSRT). They raise money to fund different labs across the country that are looking for a cure for Rett syndrome. RSRT set a goal to raise $33 million over 3 years to fund this research. Currently, RSRT has $12.8 million left to raise to meet their goal.
We will be involved in fund-raising events in Austin and Kansas City over the next few months. If you have any interest in these events, please let us know. We have included a link below where you can learn more about the research being done, as well as other questions you may have about Rett syndrome.
While we are hopeful for a cure, we don’t place our hope solely in a cure. Our hope is in Christ. We pray that a cure will be found in Bea’s lifetime. That would be amazing! But we know that a cure is coming. Jesus will return in glory. In the new heavens and new earth, there won’t be disease. Friends, we long for that day!
Please feel free to share this as we try to raise awareness about Rett Syndrome. Thanks for taking the time to read this update. We are grateful!
Dodd Squad 