I would like to start off by introducing myself I’m Jillian and I have a three year old daughter named Gracie.
My whole pregnancy with Gracie was pretty normal except I was diagnosed with something called intercranial hypertension. Basically I had all the symptoms of a brain tumor but no brain tumor.
Gracie was breach so I did have to have a C-section with her. She was born weighing 7 pounds even and at first look seemed like a very normal healthy baby. But Gracie quickly started losing too much weight we spent a week in the hospital after delivery before they were willing to discharge us.
Once we got home we still went to the pediatrician at least once a week for about a month due to Gracie not gaining weight properly. During that month Gracie was deemed failure to thrive. She also was throwing up a lot of her feedings whether it was breast milk or formula it didn’t seem to matter and this went on until Gracie was about three months old.
When Gracie was three months old one day she just completely stopped eating she won’t take a bottle at all. I took her to the emergency room where all the doctors and nurses tried to get Gracie to take a bottle. We were there for about an hour before they told me she’s just not eating and they put a tube down her nose into her stomach to give her formula since she wouldn’t take it. That’s when they told me they would need to ship us to a bigger hospital that is equipped enough to deal with this kind of situation. My heart sank. Little did I know that would lead us to be in Pittsburgh children’s hospital for seven weeks.
When we first got to Pittsburgh children’s the doctor told me they thought Gracie would do well at a facility down the street it’s called the children’s home. They basically thought Gracie would be able to “relearn” how to eat and use a bottle. In the meantime Gracie still had the tube down her nose that they were feeding her though. She was still throwing up a lot at this point.
The very next day after we got to Pittsburgh they sent us to the children’s home. We were there for about five weeks. During that time my husband and myself never left her side. We tried every trick they could think of to get Gracie to eat with a bottle. Needless to say none of this worked. So after all that one day the doctors decided to have a meeting with my husband and myself and they told us they have tried everything they possible could to get Gracie to eat and the last resort is to place a more long term feeding tube. They also discussed something called a Nissan it’s a little knot in the esophagus. That ’s when they sent us back to Pittsburgh Childrens and within two days Gracie went into surgery to have her feeding tube placed.
It was a rough couple days after her tube placement surgery she was in a lot of pain. The doctors still wanted to keep us for a while longer to watch Gracie and see how she does with the new feeding tube. During this time a genetic specialist came to see us. They wanted to run tests on Gracie since she was still a mystery. The doctors were still running many tests as well. During one of those tests the doctors realized Gracie was silently aspirating on anything she took orally.
About a week after she had the feeding tube placed and the Nissan done she was still throwing up but the doctors still thought Gracie was okay to go home. So after about seven weeks we were finally able to go home.
It wasn’t great when we got home though Gracie was still throwing up a lot. We were only home for about two weeks before we got shipped back to Pittsburgh Childrens. This time when we got admitted for vomiting the doctors decided it would be best if they went back in and replaced the feeding tube she had with a new one but this new tube went down past her stomach into her intestines it was called a GJ tube.
During this new stay at the hospital the genetic specialist came back and told us while they were running Gracie’s test they did find something. I thought to myself finally answers now we can get the right treatment and start living a normal life at home. They diagnosed her with 1q21.1-.2 micro deletion, which is where part of her first chromosome is missing or has “deleted” parts.
Little did I know this was going to be a very frustrating diagnosis. I was so happy at first when I found out we finally had a diagnosis but then they told me its very rare and they don’t know much about it. They said every child with it has different symptoms and they just treat the symptoms as best as they can. That was very frustrating to hear. I just wanted answers but instead I had many more unanswered questions. Also during this hospital stay they have realized Gracie has a submucus cleft palate. Which basically is her palate in the back of the roof of her mouth is cleft.
About a week after we were admitted back to the hospital they sent us home. This time we were home for a good while. During this time at home Gracie was still throwing up a lot. Her doctors had her on reflux medication and it did help a little but she was still throwing up a lot.
After we got back from the hospital, we started getting early intervention therapists at home for Gracie she had about five different therapy sessions weekly. Soon after the Early intervention therapists, we starting receiving services with the nurse educator due to Gracie still being failure to thrive and not gaining weight properly and we have tried many different formulas to help and nothing worked.
Getting the nurse educator at first I felt a bit overwhelmed because we already had so many people coming in home for services. But quickly realized it was a blessing in disguise.
Anytime I need any help trying to figure something out with Gracie I am always messaging the nurse educator and she helps me figure it out if possible at home so I didn’t have to go to the hospital for something I may be able to do at home.
She also weighs Gracie weekly so we can keep track of her weight without having to go to the doctors just for a weight check. Which has been great because Gracie is terrified of any doctors office or anybody in scrubs really.
To this day Gracie has issues with throwing up. Although we did find a good medication that helps her a lot. Fast forward today Gracie is doing a lot better. She does still have the feeding tube. But she is in the IU9 preschool program and she loves school. She’s a very happy three year old.
My fear was always that she would feel different than other kids at school but that’s so not the case. Gracie is doing so well now. We have had our struggles along our journey but looking at her now it was so worth it. The feeding tube saved Gracie’s life she wouldn’t be able to eat without it. All the providers we have worked with especially our home providers have helps us so much along the way. I would say especially the nurse educator some days I don’t know what I would do without her.