Diagnosis
We received the results of the genetic tests on 9/7/22 and confirmed that Declan has Duchenne Muscular Dystrophy (DMD). It is rare and the most severe form of MD. It is what we feared most for our sweet baby boy. Dr Smith spent two hours helping us begin to understand it and what to do next. I will try to briefly describe that here.
This is an extremely rare progressive genetic disease (mostly found in boys) where his muscles do not produce any dystrophin because he is missing the gene, specifically Exon 44. It was most likely passed from me (his mother) as a silent carrier or it could be a random mutation. This means his muscles will break down over time and shorten his life span without treatment. With continued PT and OT he will walk, run, play for a while which is great. Steroid treatment can start soon or even now but not without side affects. But we what we really want are new drugs they are working on which are gene and skip gene therapies that will fix the mutation so he starts making dystrophin. Without those, then probably by the age of 9/10, he will start to have difficulty walking and by 13-15 need a wheelchair and late teens the lower limbs are mostly stiffened. Usually in the 20’s the arms become more stiff. Current life expectancy is late 20’s and early 30’s because the heart and lung muscles break down..
A lot of cutting edge research is being done, likely released by FDA in the next 2+ years. It is extremely rare to diagnose a two year old unless you have genetic history in the family. Our doctor mostly diagnoses 4-7 year olds and most treatment is only approved for 4yo and up because of that. So hope is out there for a different outlook with current and new approved drugs but it is still new and we have to wait until he ages into that and they develop the drugs.
I have to also undergo genetic testing in the next couple of weeks to see if I am indeed the silent carrier. If I am, I will have to get cardiac care because I am at risk for heart muscle damage (typically mid life to late life).
…. This diagnosis is devastating and life changing for Declan and for us as his parents. But also for you since you are his family and friends. This is a LIFE long journey and we will need you all along the way. I know when I have heard of other peoples stories like this, I said wow, so sad and I am so glad my family is happy and safe. But we all have tragedies and I can tell you, that life changes us in an instant and we don’t need the pity of thoughts like that, we need the real support, that looks like this:
….phone calls and texts to check on us, we are struggling with anger, sadness and worry
…..read about Duchenne and Muscular Dystrophy to know what we are dealing with: www.parentprojectmd.org
…. Come visit Declan and spend time with him, he is an amazing kid and you will leave happier than when you came.
… Treat him the same as any other 2 year old! He will start to understand DMD more around the age of 4. Often (but not always) boys with DMD can have cognitive disorders like autism, ADHD, etc. so we will be monitoring that but so far he is a happy, healthy, loud toddler.
…. Understanding if we miss something or forget something for a little while, our lives are consumed by this, and we thank you for your grace
…. If you know of someone or some thing that could be a resource for us or for Declan, please let us know. Physical therapies will be huge. Wheelchairs and accessibility will be expensive and challenging and eventually become a part of our life. Fundraisers will be needed for his care and for more research.
We will take any help we can get, as we will go to the ends of the earth to get him the best care he needs. God has a plan to make Declan’s life meaningful. When I chose his name, I loved that it means: “Full of Goodness” or “Man of Prayer.” We will pray every day that his life is working for good and for the glory of God.
September 7th is Duchenne Awareness Day and the day we got the official genetic diagnosis after waiting over a month from the original suspicious blood test. God’s timing is perfect even when we do not understand it.
Please follow this website and "Declan's Days with Duchenne Muscular Dystrophy" on Facebook! Thank you for you prayers already, we feel them and we need them 🙏🏻💙
Kristen & Brendan Leen
Our Story
