Brianna & Zoey's Story
7 and 2 years old
Told by their mom
7 and 2 years old
Told by their mom

We have two beautiful daughters Brianna now 7 years old & Zoey 2 years old. They were both born with Rothmund-Thomson Syndrome. After having my first pregnancy with my son, now 11 years old. I received double incarcerated hernias which left very thick mesh, which constricted the doctors from properly being able to see Brianna’s slow development in my womb. At 38 weeks the doctors performed a C-Section due to Brianna no longer growing in my stomach. Brianna was born at 3 pounds 9 ounces. As soon as Brianna was born, we could hear the doctors panic as they noticed she was born without a thumb and her other thumb was not jointed. She was very petite and had very small features. Brianna was rushed to the NIC Unit and remained there for 14 days as the doctors tried to diagnose her with all different tests to determine which Syndrome she had! This Syndrome being so rare and not having many resources to get informed with, left us guessing, praying for answers and preventive medicines or cures. Brianna was only missing her thumb at birth and her other thumb not jointed, but at first had hair on her head, eyebrows, eye lashes and no marks on her skin. At about 6 months old Brianna started to develop a skin rash on her cheeks, at first, we were told it was eczema. The rash then began to spread from her ankles up to her thighs and from her cheeks to her arms. It has gotten so bad to where it looks like she was burned. At about a year and ½, Brianna began to lose her eye lashes and eyebrows. After many doctor appointments and creams Brianna was diagnosed with Rothmund-Thomson Syndrome. Brianna has been in and out of hospitals many times with horrible Skin Infections, Pneumonia, Bronchitis, and other sicknesses due to her low immune system. After a few years, I gave birth to our other beautiful daughter Zoey. Throughout the pregnancy I was high risk not knowing if Zoey would also have Rothmund-Thomson syndrome. Since Brianna was born with it, we knew there was a 1 in 4 chance that Zoey would also be born with it. At birth Zoey was born at 4 pounds 1 ounce. She was born just like Brianna missing 1 thumb and the other thumb not jointed and with small features. At 6 weeks old Zoey was in the hospital with RSV and struggled to breath and was put on an oxygen machine for two weeks. Zoey began to develop signs of Rothmund-Thomson Syndrome much faster than Brianna and was diagnosed at 6 months. Both of my daughters are extremely small. They struggle with many bone deformity, constant skin infections, digestive issues, teeth and nail deformity, dry feet and itchy dry skin, loss of eyebrows, eye lashes and their hair. They have sensitivity to lights and must wear sunglasses and have special lighting throughout the house. Brianna keeps her jacket, hat and sometimes her glasses on daily at school. Both girls have weakness in their bones, and they cannot walk or stand for long periods of time. We use a Keenz Wagon instead of using two wheelchairs at times. The girls must attend therapy to help them adapt to everyday life situations such as being able to open items without having thumbs, writing, zipping zippers, buttoning buttons, opening a bag of chips, etc. Brianna has been tested twice for Osteosarcoma Cancer, doctors say she has a possible trace but so far, we have been extremely lucky. Both girls will be tested for this at least once a year. We are living with constant fear that at any time they can get Cancer or skin infections that can lead to amputations. Both girls have teeth deformity causing the teeth to be brittle and breaking constantly which cause her a lot of pain and problems eating. Brianna due to her weak teeth deformity has had a lot of work done in her mouth, which is usually done as surgery in the hospital. Zoey has also been struggling a lot with her teeth due to pain while eating. Zoey has speech problems and is not talking at the capacity she should at her age. Zoey struggles to eat and is being tested to see what can help her eat and digest foods. She also has been having a lot of feeding and speech therapy. Both girls are extremely low in vitamin d which effects their bones. Both girls have occupational therapy. We have noticed that Brianna has difficulty learning and gets upset and anxiety when she is not able to understand and do her schoolwork. We are now looking to see what testing or help we can get for her. The girls are constantly at doctors having testing done and struggling with their daily issues due to their weak bones and constant skin infections. They have been hospitalized many times. The blistering tends to cause so much pain and spread throughout their body causing scaring and many times reappearing in the same spots. They are constantly itching and in pain to the point that they must be covered with special creams and bandages. Due to their allergy to the Sun, they are unable to be outside during the day. When the girls go out, they must be covered in UV clothing, hats UV sunglasses & Zinc. Brianna & Zoey tend to get extremely hot and tend to boil from the inside out and become extremely lethargic. You can touch their skin and feel the heat. We always make sure to keep cool ice packs on us and fans to keep the girls cool when we go out. In our house we keep the AC very low 24 hours a day. Somehow their hands are very cold and many times purple. Rothmund-Thompson Syndrome is such a rare Syndrome without much information that few cases are reported Worldwide. Our girls are our everything, our superhero’s, our strength.