I have a soon to be four-year old son who has RSS. Our road in the beginning was a scary one.
We found out at our 20 week ultrasound that our baby wasn’t growing properly. So, to a specialist we went. We drove the hour trip once a week, then twice weekly visits. We were told our baby had Trisomy 18. That meant our baby would be lucky to make it out of the womb alive, and if he did, he wouldn’t live long thereafter. At 34 weeks, our little boy completely stopped growing. We were advised that if we wanted to hold a live baby that we needed to be induced within a few days at most. This was a difficult time for us as we knew that it was so early to have him, but we wanted to hold our baby and give him the best chances possible.
Andrew Jacib was born on May 23, 2002, weighing 2 lbs. 12 1/2 oz. and was 14- 1/4″. Andrew had to be recusitated at birth and was promptly taken to the NICU. We were told that he didn’t have Trisomy 18, but they weren’t sure what was going on. I didn’t get to see him until 15 hours later. Andrew was soon transferred to Children’s Hospital and remained there until the day before his 3 month birthday. The problem was, the doctors still didn’t know what was wrong with Andrew. He required feedings through an NG tube and had reflux issues and just could not tolerate his feeds. He slowly gained weight, but he was miserable in the process. We tried to feed Andrew by breast and bottle, but he just couldn’t do it. He would have blue spells and had stopped breathing
a couple of times. We found that he had Tracheolmalacia (floppy airway). Our only option at that point was the feeding tube. Upon Andrew’s release, the doctors talked to my husband and I about Andrew’s situation. They couldn’t guarantee another day, and they didn’t know if he would ever walk, or if he was mentally challenged. All the tests and x-rays were normal, and so they still were not sure why he was struggling so much.
Once we got home, things got worse for him: he was sweating a lot at night and seemed to be in a good bit of pain and was red-faced during feedings. Andrew just wasn’t growing or gaining at all. Our pediatrician and the geneticist had both brought up RSS, but since the UPD 7 test was normal, the ball was dropped. Our pediatrician was not convinced that Andrew didn’t have RSS, but even if he did, he thought there was also a metabolic issue hindering Andrew’s growth. Because in his words, “Andrew isn’t even gaining or growing like a typical RSS child
does.”. So, he sent us to the Cleveland Clinic to have metabolic testing done. As soon as this doctor saw Andrew (without even looking at Andrew’s history) he asked if anyone had diagnosed him with RSS. He proceeded to tell me about another RSS patient he had and how this patient was seeing an Endocrinologist in New York that specialized in RSS patients. At this point, Andrew was 17 months old and weighed only 10 lbs. 10 oz.
So, we saw the famous Dr. Harbison (Dr. H) on October 23, 2003. She diagnosed Andrew with RSS and admitted him for testing. We ended up staying well over two weeks with a hotel bill over $3,000! But, it was so worth it because Andrew was a new child almost immediately. He was finally able to participate in life, as before he was only able to lay on the couch. Now, he was getting strength he never had and was starting to hold his own head up and starting to be able to sit on his own. Things only got better from there.
Andrew still struggles with severe reflux, but he is fed through a GJ tube now. We have tried several times to switch him back to the G tube, but he just cannot tolerate the volume in his belly. He is now on Zelnorm to help the emptying in his stomach and to help things move along in his system better as we are incorporating real food into his diet. He has just recently been changed over to only nighttime feedings through the J tube and he has to see a feeding therapist because he now has to learn how to eat. This has proved to be a huge struggle for him as he gags and chokes on food. But, he is progressing so well and has already made huge strides in what he can eat.
Andrew is a happy three year old with an older brother who are just like typical siblings. We are so blessed for it to be this way, as no one knew what Andrew would turn out like. But, he is so sweet and lovable and just has such a great attitude despite all he has been through in his short three years.
Andrew has almost all the typical RSS issues, including hypoglycemia, reflux, constipation, small jaw, webbing of the toes, in-curved pinkies, large head, bossed forehead . . . the list goes on.
Andrew also has restricted lung disease and requires at least nightly breathing treatments, and more often when he is sick. But, all of these pale in comparison to who he is. Yes, there have been struggles throughout our road with RSS, but I wouldn’t trade it for the world. I fell in love with him the first time I laid eyes on him, and I am even more so in love with him today.
Andrew just started growth hormone injections on January 25, 2006, and takes them very well. He is smart, and active, just like any other 3 year old. Yes, he is smaller, but that doesn’t stop him.
Jodi R – Ohio, USA