Our daughter, Mabel, is 18 months old. Mabel has all the symptoms of a syndrome or disease yet everything we find in her blood work is so ‘rare’ that we are left without a solid answer. Our hope is that research can catch up with Mabel’s symptoms faster than they progress. Sadly, it is unlikely.
Mabel has vision and hearing impairments, a seizure disorder, severe hypotonia (she doesn’t sit or roll over, etc.), has poor coordination, eats by g-tube, has delayed gastric emptying, severe allergies to milk and soy, along with many other symptoms. We see up to 6 specialists and have 6 therapists on her care team as well. Currently, we are treating her symptoms and are waiting for more test results that will hopefully guide us to an answer.
Rare disease affects our entire family. We have two older children and our greatest fear is that we may not find an answer to Mabel’s mystery and they will live with unknowns in their own lives.
Mabel is such a gift. She is the sweetest, gentlest, most smiley girl you will ever see. She brings so much joy into our lives and the lives of everyone who sees her. Right now, the statistic stands that 40% of children who have symptoms of a syndrome are undiagnosed. We fall into this category for now.
Please visit our website to learn more about Mabel and keep up with our journey of getting an answer. www.rameelinlarson.blogspot.com