Doctors Can’t Find a Diagnosis But Mom’s Research Leads to Beckwith-Weidemann Syndrome

Riana has Beckwith-Weidemann Syndrome.  Here Mom is the one who pushed for testing.

My name is Tamara-Lee.  When my husband and I found out we were expecting a baby, it came as a total shock as my husband had recently underwent surgery for a vasectomy. During my entire pregnancy, I had a Hematoma on my uterus. Our beautiful [...]

Erin Has Rare Disease Called M-CMTC But is Full of Joy and Happiness

Erin is full of joy despite being afflicted with Macrocephaly-capillary malformation (M-CM)

Meet Erin.  She is eight years old and was diagnosed at age three with M-CMTC macrocephaly-cutis marmorata telangiectatica congenita syndrome or Macrocephaly-capillary malformation (M-CM),  a multiple malformation syndrome causing body and head overgrowth and abnormalities of the skin, vascular system, brain and limbs. The disorder has recently (June [...]