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 daughter Riana was born at 33weeks and 6 days weighing in at 1.890gms.

We have seen so many doctors and pediatricians to try find out what was wrong with Riana that we have lost count. We had Riana tested for Down Syndrome and that test came back clear so I started doing my own research and learned about condition called Beckwith-Weidemann Syndrome that fit Riana’s symptoms.

I printed out the information on Beckwith-Weidemann Syndrome and showed it to her Pediatrician.  We did the genetic testing for Beckwith-Weidemann Syndrome and it came back abnormal and it was confirmed she did have the condition.  I was scared to learn this, but at the same time over the moon to finally know that we were right and there was something wrong.

Riana has Magroglossia, Macrosomia, Hemihypertrophy in her left arm & left leg, mid-facial hyperplasia, borderline cardiomegaly, Visceromegaly left Kidney, Enlarged heart, Middle ear problems, Left leg is externally rotated, Right leg is bowed, Nevus Flammeus, Umbillical Hernia, Global developmental delay, Widely spaced teeth, Asthmatic.  Riana also has limited speech and is learning Makaton to communicate (she can understand more then she can speak).

Despite  all her problems, we love her as much as our other four kids.  She is our special little princess.

4 thoughts on “Doctors Can’t Find a Diagnosis But Mom’s Research Leads to Beckwith-Weidemann Syndrome”

  1. Courtney Lyle says:

    She is beautiful!

  2. Tamara-Lee says:

    We also just found out she will be having to go onto epilepsy medication as she is having absent seizures.

  3. Hugs. Our best to you and your little princess. Sending lot’s of HOPE your way!

    – The Global Genes Team

  4. Eshana says:

    S the best sister to have

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