Hello every one and thank you for visiting our page. Tristen was born April 22, 2005 first of two via a cesarean section. Everyone got a quick glance at her then, a good look at T. J. 30 seconds later, when looking back at Tristen doctors became concerned because she seemed to be grunting more so than crying. She also had these crazy looking toes and thumbs. They carted her away to the NICU, T. J. to the regular nursery and me to recovery. After about four hours they took me to see her and I was handed a book with a paragraph in it about something called Rubinstein Taybi Syndrome. After two days in the NICU and three more in the regular nursery we were sent home and I was strongly encouraged to see a Geneticist.
Her first 6 months were kind of crazy. With waiting for a confirmation of her possible diagnosis, trying to figure out why she was always constipated, throwing up and formula bubbling out of her nose after feedings, seeing a ophthalmologist for her strabismus, and wondering if she was growing adequately we had no time to let anything sink in.
The first specialist we saw was ophthalmology. He just so happened to be a Pediatric Genetic Ophthalmologist. To our absolute shock her diagnosis was confirmed that day. He said and I quote “ that child is classic Rubinstein Taybi syndrome.” His next couple questions were, is she a very happy baby with a very weak cry, constipation and any feeding issues? He may of not had the best bed side matter but with the whole shock and Awe thing going on I had no time to consider that. He had originally started in genetics before going into optho and claims to have seen several cases. He also strongly recommended me seeing genetics, we had to wait two more months before that appointment, new clients were on a six-month waiting list.
Next we were off to gastronoligist. She prescribed murilax for constipation and pepcid for the feeding issues. She told us to come back in 4 months. The murilax helped and the pepcid did nothing, neither did the zantac that my pediatrician recommended we switch to when there was no improvement with the pepcid.
Tristen seemed to have constant congestion. Became a very loud breather and snored very loudly at night. We were suggested to thicken her liquids with rice cereal.
Next we saw orthopedics to discuss her hands and feet, That appointment went no where except for a referral to the hand and wrist specialist. I think the man was in over his head and didn’t know what to do because he said that her feet looked fine to him and used the excuse of the hand and wrist specialist to not even look at her thumbs.
We finally made it to our appointment in the department of genetics. The man was about a thousand years old but a breath of fresh air. He was old fashioned, sweet, and very thorough. He refused to use computer only pen and paper and spent about two hours with us. He sent me to all the places I hadn’t been and needed to, especially concerned in the ENT department because of her breathing. He confirmed the diagnosis, and recommended that I “go see Jack down in Cincinnati.” “And tell him doctor Schaffer said hello.” I went home and called, got some info in the mail talked to some wonderful people that said they would love to see us but unfortunately never made it to see Dr. Rubinstein before he passed that summer.
From there it was ENT. By the time we made it in as a new patient (4 month waiting list), Tristen’s congestion was even thicker and she seemed to want to sleep all the time.
From there everything is kind jumbled but to break it down, Tristen has had swallow studies about every four months, 3 sleep studies with one scheduled for may 08, hearing tests scopes the list goes on and on.
She was found to be a silent aspirator on all consistencies, have moderate to severe sleep apnea, and had standing fluid in her ears. After the first swallow study we started really thickening her liquids with dietary thickener and they diagnosed her aberrant right subclavian artery(an anomaly to the heart). After the second swallow study they considered her NPO….nothing by mouth, my little girl who loved to eat was to receive all her nutrition through a tube. We started with a naso-gastric tube and a week later had a g-tube placement with a nissen fundoplication to prevent all reflux that we had issues with on and off through out the years. Life was rough at this point, we also had issues with sleep apnea we were trying to solve at the same time we were dealing with the aspiration. The standing fluid in her ears cleared up after she was npo so that was out of the picture. For the sleep apnea was scheduled to have a tonsil and adenoidectomy, about a week after the nissen and g-tube placement. While under sedation for these procedures she also had a bronchial scope and a hearing test, revealing a laryngeal cleft and some hearing loss in her right ear.
We continued to follow up with swallow studies after healing form surgery and the very next swallow study revealed that she could start to take some food by mouth again. We also met with the hand and wrist specialist and followed up with him every four months with x-rays to watch the curve in her left thumb, which was worse than the right. We worked very closely with a feeding team of specialists weekly to get her over about 6 months taking all her calories by mouth again, September 6th 2007 she had her g-tube removed, I will never forget that day! November 19 2007 she had her left thumb corrected. February 23 2008 she took her first steps, March she had more surgery to correct her sleep apnea they re-removed her adenoids and removed her lingual tonsils. She turned three as I mentioned earlier and started pre school. Although she walks as her main form of transportation she still falls a lot and has an unsteady gait. She gets physical, occupational and speech therapy in school and loves it.
To date Tristen is happy and healthy. She is on a completely normal diet. She sees her ophthalmologist still every four to six months. She sees a neurologist every six months and I hope our pending sleep study confirms that her sleep apnea is no more!
Tristen is passionate about life and can make ANY one smile, the grumpiest person in the world couldn’t walk past her with out a smile and she knows it! She loves to play with her dogs and brothers. She loves Elmo, cookie monster and to play in water and outside. She is a true blessing to our family that reminds us how precious and delicate life can be.
Thank you so much for reading our story and feel free to contact me with any questions or comments firstname.lastname@example.org