When my daughter Brooklynn was born, she immediately went into respiratory distress and was taken to the Neonatal Intesive Care Unit. After a pretty normal pregnancy minus lot's of morning (or for me...all day sickness) and vertigo, and one completely healthy child already, we were in shock and had no idea what was going on. On Brooklynn's 2nd day of life, we were told Rubinstein-Taybi Syndrome was a possibility. Sitting in the ICU with our daughter, Tim researched this on his Blackberry. He showed me what he found. We immediately knew that this was our daughter. She had this. She possessed all the characteristics of this and looked like many of the other babies we saw pictures of with RTS. We were lost and had no idea what to do. There were lot's of emotions and lot's of tears. During her stay, we researched this to it's fullest! And had some of the most wonderful nurses who took the opportunity to research this as well. We contacted our local geneticist to confirm her diagnosis and were put on the 8 month waiting list!!! We contacted the Special Friends Foundation who sent us so much material with lot's of resources. After letting this sink in a bit, it was on!!! We went full force!!! Before she was even discharged, we had numerous appointments scheduled with specialists. We had her tested for as much as we could as early as we could so we knew exactly what to expect with her. This was my daughter, the moment we saw her we fell in love with her.....I didn't want to miss ANYTHING!!! This blogspot has been created to chronicle our family's journey with Rubinstein-Taybi Syndrome. I choose the name "Brooklynn's Hope" because I truly believe that with a little hope and will, she will do all things! To all our friends and family who are constantly showing acts of kindness and concern for Brooklynn, here you will be able to keep up with what's going on in our world. I hope this serves an education purpose and you take this opportunity to read and learn more about RTS and life with a "differently abled" child. Please enjoy our page and check back often to learn more as we do and follow us through our journey's and our life with the most beautiful and special little girl!!!
Brooklynn's Hope
Click here to learn about Rubinstein-Taybi Syndrome
Born at 5 lbs 8 oz. she was less than 4%tile in weight
At birth she went into respiratory distress and was immediately taken to the Neonatal ICU and put under an oxygen tent for approx. 18 hours
At day 2 of life she had shown difficulty feeding due to uncoordinated suck and swallow and required a combination of NG tube and oral feeds.
She had hypoglycemia and jaundice which was mild enough to not require any treatment.
Day 2 of life she had an Echocardiogram performed on her heart. It demonstrated a small PDA and a PFO with mild pulmonary stenosis and a bi-directional shunt. There was a domed pulmonic valve and an increased right ventricular pressure. She had a single episode of bradycardia.
A swallow study was performed during her NICU stay which showed aspiration into her lungs and began feeding with the help of a Speech Pathologist 2 times a day with the rest of her feeds through an NG tube.
She was discharged from the hospital at 18 days old on a heart and apnea monitor with an NG tube for her feeds.
Brooklynn's Medical Woe's
After seeing an Emory Orthopaedist and an Emory GI Specialist, we were sent to Egleston Childrens Hospital for a few outpatient labs; an ultrasound on her hip to make sure it was in place due to her contracture in her left leg, an Upper GI to show possible GERD (reflux), and a swallow study to see if she was still aspirating. The ultrasound on her hip demonstrated that her hip was in place and all was well. The upper GI had shown that she did infact have reflux disease and also had shown unexpected Malrotation in her small intestines. We never made it to the swallow study as she was admitted through the ER for immediate emergency surgery to correct her Malrotation.
On March 2, 2010, Brooklynn was admitted to Egleston Childrens Hospital and taken to the operating room for open surgery. She underwent a LADD procedure This included a duodenostomy repair of duodenal atresia and annular pancreas, placement of gastrostomy tube (G-tube) and an appendectomy. During her stay, she was seen by an Emory genetics doctor and was clinically diagnosed with Rubinstein-Taybi Syndrome at 6 weeks old. She was discharged 15 days later on March 17, 2010.
Home for 40 days, Brooklynn had many choking spells due to Aspiration. Scheduled for surgery sometime late June or early July, Brooklynn had a choking spell in which she turned blue on April 22, 2010 and was immediately re-admitted to Egleston Childrens Hospital once again.
April 26, 2010 Brooklynn was taken to the operating room for a Nissen Fundoplication to prevent reflux and hopefully cure her aspiration issues. This thankfully was completed laproscopically. Brooklynn was discharged 2.5 weeks later.
During her inpatient stay at Egleston, A spinal ultrasound with a follow up MRI was completed per our request which showed an abnormally low lying spinal cord. A inpatient consult was completed with the Neurosurgeon and was decided, although aruguable, due to her syndrome, tethered spinal cord surgery would be later performed to increase her chances of normal development.
After her discharge, Brooklynn was taken to Chattanooga, TN to meet RTS specialist and genetics doctor, Dr. Cathy Stevens. During her assessment, part of Dr. Stevens finding showed either a dislocated or missing left knee cap. An appointment was made immediately after to meet with the Emory Orthopedist once again.
After meeting with the Orthopedist, an Ultrasound was completed at Egleston on her left knee. We've just received the results. Her left knee cap is smaller than the right one and dislocated. This will require knee reconstruction surgery scheduled on September 22, 2010.
Surgery was completed on November 3, 2010 at Egleston Childrens Hospital on her tethered cord and her dislocated left patella. The neurosurgeon completed the laminectomy to release her tethered cord first. Everything went smooth. The orthopaedic surgeon went next to repair her dislocated left patella. After going in, he realized her left leg was a little more difficult than expected and her incision was rather large. Post surgery she was in a full leg cast for 6 weeks and now continues to be in a KAFO for approx. 20 hours per day. He completed the surgery, but there is no guaruntee that her patella will remain in place due to her low muscle tone and a higher probability to dislocate again. So far everything has been fine and she is healing well, although slow. She continues physical therapy 2 days per week to learn how to use her legs and walk. Her therapist is also using E-Stim therapy on her left knee to help wake up those muscles that have been sleeping since surgery and get her leg moving again. Lastly, her general surgeon went in the OR to repair the granulation tissue surrounding her feeding tube site. After repeated efforts of trying to rid the granulation tissue, this time...it WORKED! Yay! No more mess! All in all, her day spent in the OR was a huge success. I loved that all 3 surgeons were able to work together to keep her from having to repeat going under anesthesia more than she has to. All together she spent about 7 hours in the operating room that day and spent a total of 3 days inpatient..which was a shock! She had not left the hospital in less than 17 days prior to this surgery so we were ecstatic to be able to come home so soon.
Friday, July 2, 2010
Long Awaited Knee Results...
After the discovery that Brooklynn may be missing her left knee cap, we have received the long awaited results of her ultrasound. It turns out that she DOES have a left knee cap. :-) It is smaller than the right one and off to the side (dislocated.) This will require a knee reconstruction. One thing after another right? I always try to look at the positives of these situations, so here's what I've come up with....1. At least she HAS a knee cap which gives them something to work with. Still growing, I wouldnt have a clue what they would do had she not had a knee cap. With her 5 months old, seems like it would be almost impossible to have to put an actual knee cap in place that would be able to grow with her. 2. At least the Orthopaedic surgeon has agreed to work with the Neurosurgeon to complete both surgeries at once. At first, the Orthosurgeon was totally against the idea and wanted to do his separate from the Neurosurgeon. Thanks Mr. Mean orthosurgeon. Dont mind the fact that she has a syndrome in which anesthesia could be a scary process and it may be better to keep her from having to go under as much as possible. (The orthosurgeon is not my fav!) Surgery on her spinal cord and her knee will both be completed at the same time with the neurosurgeon going first. 3. At least we are getting all this out of the way while she is still so young and won't remember. 4. With any luck at all, hopefully we wont have any more ortho issues and can avoid this doctor. He can keep his arrogant attitude, bad bedside manners, rude office staff and 2 hour waiting room wait times to himself. We dont want it anymore. Soooo, there are my positives. I can also add that Egleston has the best grilled cheese sandwich I've ever had. Seriously. They put a couple different kinds of cheese on it and it is super yummy. But I would trade that for not having to go back ANY DAY! So September it is. Back to the hospital for another stay. It is a typical 36 hour stay required after surgery for her spine, and Im not so sure about her knee yet. Apparently to ask the orthosurgeon any kind of questions you have to schedule an appointment before surgery. Ugh. And then there is always getting her back up to a good amount on her feeds before we can go home. This time shouldnt be so tough though since this is not a stomach surgery like her last 2. Hopefully we'll have more answers soon. I'll let you know then. For now....XOXO, Katie
What a cuuuuutie! Her expression so reminds me of Natalie at that age. I'm so glad you can have both surgeries at the same time. I have no experience with either one, so I have no idea how long they take for recovery. But I have dealt with pig-ish doctors and I agree, they can keep their attitudes and we'll find better doctors someplace else (what we did). I pray this is your last experience with this doctor.
...home from the hospital! Surgery went great!!! :)
Life Is Beautiful
Milestones Met!!!!
Smiles! at 7 weeks old
Holds head up by herself at 12 weeks old
Laughs and Coo's at 16 weeks old (and tries very hard to sit up on her own - can pull herself up to a sitting position when I brace her arms) :-)
Will reach out and touch objects at 16 weeks old. Will grab onto them for a very short period of time with her hands, but will hug them and cuddle them with her arms.
Brooklynn has rolled over from her tummy to her back AND her back to her side! Yay! EXACTLY on her 6 month birthday!
She has stood on her own holding on to a small table with a brace on both her legs for 12 seconds! YES!
She pulled herself up to stand (just on the couch where it's soft) at 18 months old!
Childrens Healthcare of Atlanta - Registered Dietician
Atlanta Prosthetics and Orthotics
Childrens Healthcare of Atlanta - Pediatric Physical Therapist
Childrens Healthcare of Atlanta - Pediatric Speech Language Pathologist for Feeding
Childrens Healthcare of Atlanta - Pediatric Occupational Therapist
Surgeries
March 2, 2010 - LADD procedure (Malrotation) included a duodenostomy repair of duodenal atresia and annular pancreas, a placement of a Stamm gastrostomy tube (G-tube) with appendectomy
April 26, 2010 - Nissen fundoplication to prevent reflux with a revision of her G-tube.
November 3, 2010 - Laminectomy to repair tethered spinal cord
November 3, 2010 - Repair of left dislocated patella/ reconstruction of left knee.
November 3, 2010 - Replaced Gtube in OR and treatement of granulation tissue surrounding GTube site.
Upcoming August 26, 2011 - Release of trigger finger on her ring finger and thumb both on her left hand.
Current Therapies
Community therapy once a month with Babies Can't Wait
Physical therapy twice a week with Childrens Healthcare of Atlanta Outpatient Rehab
Speech therapy currently for feeding once a week with Childrens Healthcare of Atlanta Outpatient Rehab
We are currently discussing beginning Occupational Therapy as well as Speech Therapy for "speech language." Currently she is already receiving 3 days of therapy so we are trying to figure out the best way to incorporate 2 more types of therapy into our schedule. I am tired just thinking about having to be at the hospital this much. :-( Even more so, for Brooklynn.
Preparing for her occupational therapy evaluation coming up the beginning of September.
What a cuuuuutie! Her expression so reminds me of Natalie at that age. I'm so glad you can have both surgeries at the same time. I have no experience with either one, so I have no idea how long they take for recovery. But I have dealt with pig-ish doctors and I agree, they can keep their attitudes and we'll find better doctors someplace else (what we did). I pray this is your last experience with this doctor.
ReplyDeleteBrooklynn is a sweetheart. Sorry to hear about this Dr. I will be thinking about you guys! Keep us posted :0)
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