05/12/2023
In honour of Mother’s Day Weekend, our tiny , little Sophia is our feature for this post. She and her family are from Janesville, Wisconsin, USA and you can find them often through or Alexandra Bowers on FB. We reached out to Sophia’s Mom, Alexandra to tell us more of her amazing thriver story since telling the whole picture just isn’t quite in her wheelhouse just yet.
“At my 20-week ultrasound,they discovered that Sophia had non-immune hydrops, pleural effusion, and a cystic hygroma.The doctor at the time suggested I should do an amniocentesis to take a deeper dive into her genetic make-up to see if that could give us any answers as to why this is happening. We found out that Sophia was missing the tippy top of Chromosome 5 and the bottom of Chromosome 7.Part of the missing piece of her chromosome was the FLT4 gene,which we are still investigating as to what that means.”
Sophia was first diagnosed with Primary Lymphedema, Milroy’s Disease and Primary Intestinal Lymphangiectasia at 40 weeks old in the NICU after an MRI, Lymphangiogram & an Upper Endoscopy.They originally diagnosed her with Milroy’s Disease because she was so puffy below her waist but I knew in my heart that wasn’t the correct diagnosis since she was also really puffy everywhere else.Since then,we have noticed as she got older,the puffiness in her face,neck and belly have decreased some but has remained puffier in her arms,hands and below the waist.We have tackled her Lymphedema with doing daily MLD, CLT weekly, getting her in front of the correct doctors,her drinking the correct formula (Monogen) to stabilize her PIL (protein, albumin, IGG).At 12 months old, her tonsils & adenoids were removed, inferior turbinates completely reduced,and ear tubes put in.
What has kept her swelling at bay was nightly CDT wrapping,KTape on her legs, feet, arms and hands,daily MLD,and seeing her CLT weekly.With Primary Lymphedema being such a rare disease,it really does take a village to help each other get through the unknown of how, why,and what will be the best solution for my kid (or my loved one) especially since this disease is not a one size fits all diagnosis.
