Rubinstein Taybi syndrome is a rare genetic disorder first described in the 1960s. It effects approximately 1 in 100,000-300,000 people. Spectrum disorder varying from mild to severe. They haven't figured out exactly what causes this, some have chromosomal deletions, some don't. More often than not a deletion in the CREBBP gene in the 16th chromosome.
Rubinstein Taybi syndrome is characterized by developmental delay both physical and mental. Common physical traits are a red wine spot on the forehead, beaked nose, downward slanting eyes, “grimacing” smile, broad and often angulated thumbs and great toes, fetal pads on fingers and toes, excess hair.
Heath problems include heart defects, failure to thrive, tethered spinal cord, reflux, dental issues, increased risk for cancers and tumors,chronic constipation, eye and hearing problems. Most prominent is speech delay. High risk of being non verbal. Autistic like tendencies such as stimming and tics. Sensory disorder common.
Those with rts are often extremely happy outgoing people who love music and swimming. Their love, joy and strength is truly unmatched.
FISH testing can determine diagnosis but often just clinical diagnosis.
Follow ups required are pulmonary cardiology, audiology, genetics, gi, eye.
There are no treatments but management depending on health.
My pregnancy was typical. No problems. No history of problems in family. They day I gave birth the first thing the nurses told me when she came out was she had abnormal thumbs. My daughter also had a double toe and VSD. I was referred to genetics. I got an appointment the day she turned two weeks. The geneticist examined her and then told me she had rubinstein taybi syndrome. Of course I had never heard of this. I asked what this means. Was it something I did? No. Its not hereditary. It just happens. He said it means she will be moderately to severely mentally retarded. I burst into tears. Holding my tiny angel, so fragile. So innocent. What did she do to deserve this? Of course the answer was nothing. After him and the counselor hugged me, he asked me if I wanted to continue talking or if id rather make a follow up. I asked him to continue. He started telling me all the appointments I needed to make. The therapies I needed to seek. The potential health risks right now. After the appointment was over I called her father and told him to leave work and come home. We spent that day crying in each others arms holding our daughter.
With the wisdom of my aunt it got better quickly. She told me I needed to mourn the loss of the child I thought I would have. I needed to grieve the loss of the dreams I had for her. She told me it was like a death. She told me to give myself two weeks to cry. Then I needed to get up, find my strength and fight. Before those two weeks were up I lost her too. But I still found myself standing and doing as she said.
Now my daughter is just shy of 16 months. We've had vsd, enlarged kidney valve, failure to thrive, feeding tube, projectile vomiting, chronic constipation, reflux, double toe removal, mris, neuroblastoma, adrenalectomy, tethered spinal cord, planning heart surgery and thumb correction. Education therapy, physical, speech, occupational, sensory processing disorder diagnosis, mild sleep apnea, restless nights, fused labia. We have also realized how lucky we are that that list is all we’ve had. We’ve grown. We’ve found strength. We’ve had accomplishments and progress. We discovered love beyond most peoples capability. We found a family in our fellow rts parents. We’ve been happy. Our daughter is unbelieveably beautiful. Shes sweet and gentle. Shes so happy.
We’ve found acceptance. I wouldn’t change her. I wouldn’t want her to be anyone else. Who she is, is already perfect.
Contributed by MOM Stephanie Bast