Child Spotlight: Madalena
1. Please introduce your child and list the name of their diagnosis
This is Madalena (we call her Maddie) and she is 5 years old. Maddie is diagnosed with a very rare genetic disorder called Basilicata-Akhtar syndrome or MSL3 for short. Maddie is also autistic. We received Maddie’s diagnosis of MSL3 in November 2020 after 3 years of being on the wait list to see a geneticist.
2. Tell us how this diagnosis affects Maddie and your family’s day-to-day life.
From the moment Maddie was born, we knew she was unique. Maddie cried a lot, had feeding and swallowing difficulties, hated being held and wasn’t meeting developmental milestones. As a toddler, Maddie had and still has gross and fine motor challenges, speech and communication disorders as well as a global developmental delay.
The first year was very difficult for us. Her pediatrician at the time kept telling me my concerns weren’t valid and ended up dismissing us as patients because I refused to accept there was nothing to be concerned about. I eventually went to our family Dr. and she listened to my concerns, watched the videos I had taken and agreed some investigation needed to take place. We were referred to the Glenrose. This was the start of an amazing, hard and ongoing journey. Maddie had to endure many tests and procedures, all the tests never produced answers but more questions. All specialists who met her were stunned. She truly was unique, no one had met someone quite like her.
When we received the MSL3 diagnosis, it was through a zoom call due to COVID. We heard “ global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies” and that Maddie’s physical movements may get more restricted as she ages. She’ll have to be monitored throughout her life for heart and kidney issues and she may develop seizures. Then we were told there is only 40 people in the world with MSL3. MSL3 was discovered in 2018 and there is only 2 medical papers on it. Not much is known about what Maddie’s future will look like but we have accepted Maddie will live with us for as long as we can care for her.
We cried. We told our family and close friends through phone calls and texts as it was to hard to do it face-to-face. I needed to appear strong.
3. What have you learned from your child and being his/her parent?
It took weeks for the cloud to lift. I let my mind go to the dark place of ‘what if’s?’. Then after many people checking in and my own grief lifting I came back to the place knowing Maddie has always been our Maddie, nothing has changed receiving her diagnosis. She is still the same Maddie! She will always be our Maddie and we’ll do anything and everything to make her life amazing, fun and filled with LOVE.
I searched the Internet and Facebook and came across the MSL3 syndrome page. They accepted us with open arms and have become an amazing support group for us. These families are from all over the world.
The MSL3 foundation was recently started and May 3rd will be the first international MSL3 syndrome day.
4. If you could give any advice or guidance to a fellow mom receiving a new or similar diagnosis, what would it be?
If I can give any words to new parents in this journey, it is listen to your intuition and your not alone. You WILL find your tribe. It does take time but you will be amazed how and where it forms. Your child is loved and will continue to be LOVED by those in your life who matter. And your grief will come and go… let it in, feel it, then… take a breath and let it go. Your child is and always will be their wonderful self 💕.
