In utero, we already had a few challenges that came up. We found out about clubfoot at one of the early scans. It was a non-issue really, in the scheme of things. When M. was born, he had left clubfoot and torticollis. Those were the only issues of note. We started seeing a physical therapist right away for torticollis at the Hospital for Special Surgery in New York City. My dad, who is a retired physician, noticed that M.’s eyes were non-reactive to light at about three months old. (It wasn't the pediatrician who noticed. It was my dad.) That is where I would say our journey really began. Then, one by one, other issues started to crop up over the years. For his vision, we saw an ophthalmologist. We went to one ophthalmologist when he was still three months old. This is one of those stories: The doctor was like, “Well, he could be blind.” We thought, “What? What are you saying to us?” So that guy was out. We switched to another doctor. And actually, M.’s eyes just kind of caught up to other kids. He was diagnosed with cortical visual impairment years later, and he wears glasses, but his eyes did catch up to a degree. Some of my friends have a similar story, too. You end up seeing a lot of different physicians to get all the information you need. But after this, M. wasn't really meeting the expected milestones. We had gotten into Early Intervention early. He must have been six months old. He needed physical therapy because he wasn’t rolling over and the torticollis was unresolved. Then, at 12 months, M. wasn't really verbalizing at all. I think one of the main reasons M. was given an autism diagnosis early on was because of his visual impairments. It's the way he used vision: when he's thinking, he looks someplace else. When he's walking, he doesn't look and instead he uses his feet to feel. He wasn't he wasn't making eye contact when you were talking to him, and then he also wasn't speaking. The autism diagnosis is definitely not correct. It helped us get therapy early on, but it also was not accurate. Later on, that diagnosis also didn’t help get other kinds of support. I always knew it wasn't autism because of his social engagement. M. was always so sweet and engaging. He was also given a diagnosis of PDD-NOS (Pervasive Development Disorder - Not Otherwise Specified). I don't think they give it anymore. It was a catch all: “We don't know what's happening here, so we’ve got to give you something.”
We got an actual diagnosis at 6 years old. M. has a genetic disorder called ATR-X syndrome, and I’m a carrier of it. For years, we just kept going back to the geneticist. And then a new test was developed, I guess, probably six years ago. We went to Dr. Kwame Anyane-Yeboa, a pediatric genetics specialist at Columbia. I kept returning to genetic testing. I thought, “There's something going on here. We don't know what it is, and no one seems to.” The first thing we did was to have every genetic panel that was available. Then, when new tests came out, I kept in touch with the doctors. We had a really good genetic counselor at Columbia who works at the NIH now. That was helpful. M. was born at New York-Presbyterian/ Columbia and I just took him back to Columbia for genetics counseling and we got lucky. We also went to the Lighthouse (www.lighthouseguild.org), which is now defunct, and we saw low vision specialists. Now we see Dr. Andrea Thau, an optometrist, who's been pretty amazing. M. currently has crystals in his glasses to help with his strabismus. The AAC (Augmentative and Alternative Communication tools) path was a very long and arduous one as well. M. wasn't verbalizing at one year old. At three years, he still wasn't talking. That is one of the things that is hardest to come to terms with - that your child may not speak. My husband and I both knew we needed to give him another way to communicate, otherwise it was going to be a challenge. The Department of Education started out by giving us materials on paper. They gave us these tools that were very complicated. They weren’t high tech, right? You had to print it out, and you had a big box of the stuff, and there were not enough words on it. And I thought this isn't going to work. I started searching for better solutions. I used Facebook groups and speech pathologists who were willing to look into these higher tech tools with me. M. has been using a high-tech device to talk since he was four years old. Think about what it's like to learn a new language. How do you build those skills? Now imagine this is for someone who has developmental delays. You've got all these things working against them. It takes time, and it can be really slow and frustrating. But then, when your kid says to you, “I want to go to the park” on this device - even if he just says “park” or “go park” - you feel, “This is amazing!” It gives me chills to recall. And now he can communicate with anybody.
I usually found good doctors through friends in the community. It was all word of mouth. I said, “Oh, we have this condition. Who do you see for this?” I also joined any support group that was open to me. I was part of a YAI (yai.org) support group, and I continue to be in it now, almost nine years later. It took me three or four years before I started to feel comfortable reaching out to people, using more Facebook groups, and asking questions. We are on to our fifth or sixth pediatrician now. I think it's really hard to find a pediatrician. My opinion is that pediatricians are used to dealing with “well” children. They're not used to dealing with kids with challenges, and I think some of them don’t know how to identify those challenges. It took me a lot of research to find doctors who were familiar with complex children. A pediatrician at Saint Vincent's - when Saint Vincent's was still around - named Dr. John Snyder helped us get on track. He ensured that we were seeing all of the different specialists. They really helped. For me, a good doctor is someone who has been in the business for a while. I don't have anything against youth or young doctors. I see them myself. But people who have seen more children have have a different breadth of experience. The other thing that I looked for was a sole practitioner, not someone who had a team of 86 doctors and nurses that I had to see instead. I needed to know M. was going to see the same person every single time. I also wanted someone I could get in touch with easily. These doctors gave me their cell phone numbers. They have to trust you and you have to trust them. M. is, knock-on-wood, a healthy kid. But he wasn’t for a while. Being able to reach them quickly made me feel better and made a big difference when we needed something acutely. My other advice is just you really have to have a lot of patience - and, for us, maintain consistency. Those things are tough, especially now (with COVID-19). We use a lot of scheduling tools at home: visual schedules. M. has got an app on his iPad. (He uses an iPad Mini with “Speak for Yourself” on it.) Every morning we write up what we're going to do. Then we cross stuff off as we do it. That also helps. And because M. uses a talker - an AAC device - to talk, we make sure we're using that and we keep communicating.
Below is a timeline of M.’s observed symptoms, diagnosed conditions, and treatments and therapies.
Signs & Symptoms
Treatments & Therapies
Doctors & Specialists