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J.

Male | 3 years & 6 months

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J.

Male | 3 years & 6 months

J.'s Journey, as told by Donia

When and why did Donia start to feel concerned about J.'s health and development?

When my son was born, I said, “His breathing sounds super-congested.” The doctor said, “Yeah, he probably swallowed a little amniotic fluid. Don't worry about it.” I saw his chest pulling in a little bit when he breathed, and I kept on questioning. (Now, I know those were called “retractions.”) They said, “Don't worry about it. That's normal.” He was born at 35 weeks. We knew that potentially at 35 weeks there could be some minor respiratory issues. But he was six pounds eight ounces. He looked great. His Apgar scores were really good. All the things that we use to measure the typical stuff were good. Then, my husband pointed out that he was not really responding the way our other son had responded 24 hours into being in the world. Bright lights weren't really making him squint. A bunch of things just weren't happening that we thought were normal. (My first son is a healthy, typically developing six year old now.) He also has what I call his “cute” ear, a malformed ear. That was something I also pointed out, and the doctor said, again, “Listen, your kid is healthy. Don't worry about it. He's okay.” My son was born in Jamaica because both my Husband and I had successful careers there. It was a private hospital with a reputation for great doctors. So we thought, “We got this. This is okay. We didn't need to come back to the U.S. to have a baby.” They transferred him to an ICU unit because of his breathing. He had a little jaundice. We were in the ICU unit for about a week. While we were there, I kept on asking questions: “You know, when he cries, I noticed his mouth is a little lopsided.” (“Don't worry about it, Mom. It's not a big deal”.) “His breathing is still a concern to me.” (“Don't worry about it. He doesn't need oxygen. His O2 is fine.”) He wasn't feeding well, and they said, “Well, sometimes with babies it just takes a little time for them to figure out feeding.” They discharged us from the ICU because they had more critical kids. They handed me a syringe and said, “Just keep squirting some milk in his mouth until he gets sucking under control, and head home.” I thought something doesn’t feel right. We went to our pediatrician, and he said, “Listen, I hear your concerns. I can refer you to any doctors you want. Yeah, his breathing looks a little off. Maybe he has something like a PDA (patent ductus arteriosus), which is very common in a lot of kids.” He sent us to a cardiologist who seemed to be rushing. She said, “He has a minor PDA. It's nothing to worry about.” My husband said, “Listen, this is actually good news. It's not like he has a major heart condition.” But again, something felt off. We went to an ENT (ear, nose, and throat doctor). They said, “Everything looks great. His airway is perfectly normal.” I thought, okay! But again, he still wasn't feeding. We just kept on pushing and pushing. It was constant: “Mom, you're freaking out too much. There's nothing to worry about. It just takes time.” But while this was going on, he was losing weight. I could see it. I mean, I could see it. He was the most miserable baby as well. My other son was such a happy little baby. I know kids are different, but there was just something about it that didn't feel right.

Does Donia have any other advice or experiences Donia would like to share?

It took us a while for J. to get his trach, not until he was four months old. But it was because of the families we met through the CHARGE Syndrome Foundation that we were confident to do it. They helped us realize that’s the only choice we have. We know that we have this group of people to guide us. Really, it has been other parents that have helped me to figure out this world. They have suggested treatments. They have suggested surgeries. They have told me things I should ask doctors about when I didn't know as much. And now that he's three-and-a-half years old, I find myself answering questions for others. There are a lot of older CHARGE Syndrome parents who have kids that are in their teens. The “O.G. moms” is what I call them. They are the ones who have been there for a long time. It's a really great support network. I also work closely with our Florida and Virgin Islands Deaf-Blind Collaborative because J.’s DeafBlind. There are unfortunately a lot of services missing here in Florida when it comes to kids with special needs, but very specifically, ones who are deaf and visually impaired. When we went into our IEP meeting, I brought in research and I had pages tagged and highlighted. At the end of the IEP meeting, they said, “Can we take all the research you just brought in?” I said, “Take it, I have copies at home.” Because I want to know more than everyone in the room, especially when it comes to my kids. I should know what you know. As another example: We were getting approval from a pulmonologist for surgery because he was aspirating all of his saliva. Our normal doctor was on vacation, and a different one said, “I don't agree with this surgery.” She said, “Why don't you use Botox in his salivary glands?” I said, “He doesn't have parotid glands. They do not exist.” She said, “Well, how do you know that?” I replied, “Because we've done an ultrasound. They're not there. It's a common feature in CHARGE Syndrome.” She said to me, “Well, I've never heard of that before.” Then she got on her computer, and she said something like, “See, I just Googled it. There’s nothing about this.” I took a deep breath. I opened up my Google Drive with all the research I have on CHARGE. I found a study that shows some of the secondary features of CHARGE, and I said, “There it is.” We will not be seeing that doctor again. I don't just Google things about my kid. I look at peer reviewed articles. My friends who are not people of color go into appointments and they rarely get pushback, but I get pushback. So I make sure that when I say something, I can back it up - or I look it up. I'm an educated person. I'm not playing around, and you're not going to mess with me. But we've been lucky to find a really great group of doctors locally. And then Cincinnati Children's Hospital has a CHARGE Syndrome Center. It's the only one of its kind in the world. All its doctors specialize in CHARGE Syndrome. We went to Cincinnati at some point with J. when he’d had the trach but was still having a lot of respiratory illnesses. We were heading towards having a diagnosis of lung disease. We took him to Cincinnati to see their Aerodigestive unit, and they were able to make some recommendations for him. We ended up having a few more surgeries, but they resolved a lot of the issues he was having. They've been a really great help as well. We were never sure if his cochlear implants would really give him the input he needed to develop speech. He does respond a little bit to sound, but not to the point where he would be able to develop speech from it. So now we're moving head-on into ASL. He signs “No” to me to tell me he doesn't like things. He signs letters. He signs “want”. He tells us he loves us in sign language. We're developing communication that way. That has been really great because now he is less frustrated than he used to be.

What was Donia's experience seeking a diagnosis and treatment for J.?

When he was three weeks old, I contacted Nicklaus (Miami) Children's Hospital in Florida. I said, “My son has a PDA. He has breathing issues, and something just doesn't feel right. We want to come to you.” They said, “Alright. We want all his medical records and the echo from the cardiologist to show to our cardiology team.” Our cardiologist in Jamaica said she hadn’t kept the records from his echocardiogram. We had to go back to her. I said, straight up, “I want you to understand: I don't plan to use you as a doctor. I just need you to do this echo for me because I'm leaving to take my son abroad for a consultation.” The initial echo she did, the first time, had taken 40 minutes. This second echo she did took two hours. And as she was working, all I heard her say was, “Oh, no.” I said, “Oh, no? What?” At that point, she explained that he not only had an extremely large PDA - not the small PDA she initially diagnosed - but he also had a coarctation of his aorta and a bicuspid aortic valve, which are pretty serious things. We reached back out to Nicklaus Children's, but they have a process. Their doctors have to meet. They needed two weeks. I said, “I don’t think he’ll make it two weeks.” The person I spoke to is a very special person in our life. She was a nurse for their global unit, and she said, “If you are concerned you can come through our emergency room.” I said, “Yes, but I want to just do this properly.” She repeated, “If you are concerned come to the emergency room.” The U.S. embassy had granted us an emergency U.S. passport because we are U.S. citizens. I booked a first class ticket to Miami for the next day. We flew into Miami, and we drove straight from the airport to the hospital. When we were admitted to the ER, I said, “I want the ER doctor to look at this.” I had a copy of all the reports from the cardiologist on my cell phone. The doctor looked at it, and they immediately called in a trauma team. The cardiac ICU came down, and my son was admitted right away. He had heart surgery a day later. We then discovered that he had a dysfunction that prevented him from swallowing. So he started with an NG tube, and then he got a G-tube placed about three weeks later. We also discovered that he had laryngomalacia, which is where his epiglottis is floppy and doesn't work properly. He has a tracheostomy as a result. He also is DeafBlind. By the end of our first month in Miami, we discovered all of that. He was eventually given a diagnosis of CHARGE Syndrome, which is a rare genetic disease. Once you have this grouping of multiple issues, they assume it's genetic. They give you a handful of possibilities. They said it could be Noonan Syndrome or it could be CHARGE Syndrome. One of the nurses said to me, “I've seen a lot of Noonan's kids. This looks like CHARGE. The typical child with Noonan has a wider neck and some other features that J. just doesn't have.” (Although J. also doesn't have some typical facial CHARGE features either.) She said, “Reach out to the CHARGE Syndrome Foundation. It can't hurt.” So that's what I did. Their Outreach Director, Sherry, emailed me right away. She said, “Join our Facebook group. What do you need?” She sent me a list of parents, and once I found that Facebook group, it was my lifeline for that period of time. J. has global developmental delays. We have an early intervention program here in Florida (where we moved) called Early Steps. We went through Early Steps as recommended by our pediatrician here in Miami. Through them, he got therapies at the same Children's Hospital: He has PT, OT, and they had him on feeding therapy, because at the time he still had his G-tubes. We're definitely in a great place with his health and with therapy services (prior to obviously COVID disrupting services) because of the support we have from the community and therapists. Now, I'm working really hard to advocate for him within the school system. We have an IEP meeting coming up next week. When we had his initial IEP meeting last August, because he turned three, we had to hire a lawyer. They were refusing nursing services for him in school even though he has a trach. We're in a good place, but you always have to fight on the next part of your journey.

J.'s Medical Notes

Signs & Symptoms

Diagnosed Conditions

Treatments & Therapies

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