MIA – 8 MONTHSRetrun to 22q Stories
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Our story began with wanting to know if our baby was a boy or a girl. We spent a few extra bucks to see if our second child would be another girl or if we would get a boy instead. We were thrilled when we found out that another beautiful daughter was in our future.
Several days later, excitement turned into terror. My OB/GYN called to let us know that our sonogram technician had found something wrong and that we needed to come in right away. The sonogram had shown a large cystic hygroma, a fluid filled sac, on the back of our daughter's neck. We Googled it, which we knew you aren't supposed to do, and became even more distraught. We went to a high risk OB who did a level II ultrasound and it showed that the hygroma was septated and approximately 22ml large. It was very large and we knew that the larger it was, that it could mean something bad, maybe even be fatal. That day they did an amniocentesis, and a few weeks later we received some good news. The initial test came back negative and that she had all of her chromosomes, and not too many of any. We went in for another ultrasound to check the hygroma and found that it had shrunk to 8ml, but also noticed that the heart wasn't quite right. We were relieved with our little bits of good news though, and left on our planned vacation.
As soon as we returned however, the doctor himself called us. The nurses call you with good news, the doctors call when they need to tell you something is wrong. Our Mia would have DiGeorge syndrome or a deletion called 22Q. We were sad, but we also knew that of all the diagnoses we could have received, this one was not so bad. She would most likely live a relatively normal life. However, we knew we still had the heart issue to contend with, and found out later that Mia had Tetralogy of Fallot and would require heart surgery.
I remember spending a lot of my pregnancy thinking I was too scared to love her not knowing what would happen to Mia. When she was born, I realized that although I was scared, I had loved her all along - so much so that it hurt. She was the most beautiful, perfect baby.
Mia had a month-long stay in the NICU, having a surgery to remove a duplication cyst on her intestines and then visiting the cath lab to have a stent placed in her PDA. She struggled to eat and gain weight, and had to eat via an NG tube which we had to learn to place before she was allowed to come home. We were so happy to have her home! Not too long after she got RSV and had to spend two weeks in the hospital again. At 6 months old, Mia went in for her heart surgery to get her Tet repair. The surgery went well, but we soon found that her extubations were failing due to a compressed left lung. Less than a week later, she had a second surgery to amend her pulmonary artery. Even though the compression of the lung had been relieved, her extubations continued to fail because her lung and airway were still "floppy" and needed some time to grow and stiffen up. She underwent bronchoscopes and they mentioned having to put in a trach. Mia fought through though, and they gave her time, treated some infections they found due to intubation, and she was extubated and doing well a few weeks after her second heart
We were thrilled to start feeding her again, until her reflux showed up yet again. She had always struggled with it, and now it had caused her to aspirate some food. Her vocal cord had been paralyzed because of all her intubations, and therefore she aspirated her food more easily when she refluxed. She ended up back down in the PICU and intubated once again. However, after she was extubated this time, her breathing became almost normal, but we had to make the hard decision to return to surgery and have a Nissan fundoplication and a g- tube/button procedure performed. Her reflux was causing a risk for aspiration and would possibly be a roadblock to her gaining weight. We hated seeing her suffer and watch her throw up all of her food. Her body was telling us that she needed this surgery. We thought we would be there 7 to 10 days while she recovered; it turned out to be a two month stay.
Shortly after her fundo surgery, we got to take her home. We are enjoying every moment watching our skinny little munchkin, who struggled to gain 3 to 4 ounces before her surgeries, chunk up and get stronger like crazy! She smiles at us like she has not had to endure one ounce of hardship, and it melts our hearts and puffs our chest up with pride that our little girl is such a strong little fighter!
*UPDATE* - Mia is now 6 years old. When we left off with her story she had completed her Tet Repair and Fundo surgeries. Mia had a few more struggles and ended up with endocarditis and an intestinal blockage that required surgery. During all this we continued to struggle with painful feeds and her 100% tube fed diet. We were blessed to find Sensory Solutions in St. Louis, they worked intensely with Mia and catered a program to her intense oral aversion and at 3.5 years old Mia had her first meal! To our surprise, after Mia started eating she became a black hole of food. We can't keep her from filling her face now! She has completed Pre-K and is now in Kindergarten where she was made lots of friends (and she says boyfriends). She participates in dance, soccer, and basketball and is the funniest little firecracker. We are blessed to have this 22q-tie in our lives.