The Haystack

Finn sees his retinal surgeon once a year now for a simple checkup to ensure there is no change in eye pressure or condition. We’re no longer looking for improvements from his surgeries (i.e. shadow or light perception) as we’ve accepted that the surgeries were not successful on that front. I took Finn for his yearly appointment in December and Dr. S said that everything looked status quo and there was no cause for concern. As he was finishing his exam, he mentioned that there is a new genetic test available from a company doing research in gene therapy. This particular test is for 250 inherited retinal diseases. I was excited to hear that in just two years there was already a new test and that research continues for those with retinal disorders. I asked for more information and learned that in order to run the tests, Finn would need to either be subjected to a blood draw (in some cases for kids his age this requires sedation) or be able to spit into a vial for a saliva sample, which he cannot yet do. He went on to explain that this tests for 250 genetic diseases out of a potential 100,000+ so to keep in mind that it is still like looking for a needle in a haystack. Hmmm. Dr S. said it would be something to consider in the hopes of getting a diagnosis, but Patrick and I would need to weigh whether it’s worth putting Finn through the pain to run the test now or wait a year or two until they can take a DNA sample by saliva. In his words, how aggressive do we want to be in our search for answers?

A few weeks later I picked Finn up from his speech therapy session at school which he has once a week. His speech therapist asked to speak with me about her observations of Finn since she’s been seeing him over the last four months. She told me that she believes he has a neurological speech disorder called Childhood Apraxia of Speech. Apraxia is a motor speech disorder where the child knows what they want to say, but has difficulty producing the motor movements to connect sounds or pronounce words correctly. For example, Finn can say “mmm” and he can say “ooo”, but he cannot say “moo.” Unlike developmental speech delays, Apraxia is not something a child can grow out of and there is no cure. However, it can be treatable and manageable with a lot of therapy, practice and hard work depending on the severity. We had noticed issues with Finn’s speech, of course, which is why we have him in speech therapy in the first place. I often serve as Finn’s interpreter with teachers, grandparents, or others who don’t see him as often as we do and haven’t learned the funny way he says the words he’s trying to say. However, I think the parent interpreter role is pretty normal for most two-year-olds so I assumed we were dealing with a typical delay that would resolve itself in time.

Unfortunately, it appears we are dealing with another atypical issue. Honestly, to hear the words “neurological” and “disorder” out of the blue again were a punch to the gut. On the flip side, I did not panic, I did not cry, but I’d be lying if I said that I did not worry. The worry set in immediately, in fact. Will therapy really help? Will my son be challenged with being both blind and unable to communicate clearly? Am I doing all I can to help him succeed in life? And at the root of it all, the big one that never really goes away – does this mean that Finn has a genetic disorder or syndrome after all, and are there more challenges to come? A new diagnosis meant his blindness was most likely not just an anomaly — what are the chances that he just happened to be born with both blindness and a neurological speech disorder and the two not have any connection to one another?

With these two encounters with Finn’s medical team we were faced with two questions – what do we do to start treating the Apraxia, and do we get more aggressive with our search for an answer to what Finn may have?

I started doing research online and it became apparent that increased frequency and duration of therapy is the main recommendation for children with Apraxia. The fixer in me (i.e. the mom in me) immediately jumped to, “OK, we’ll do therapy five times a week instead of one!”  I even had a moment of researching how to get my own degree in Speech and Language Pathology to learn the techniques to help him myself. Of course, I quickly realized that by the time I finished all of the education and training required, Finn would likely be on his way to high school. So, that was out. I reached out to our Early Intervention Coordinator to tell her what was going on and requested more therapy. She said she’d be happy to add a second day per week provided our therapist has an opening. Only one extra day, I thought? Is that enough?

I then met with Finn’s Speech Therapist as well as his TVI (Teacher of the Visually Impaired) to talk through it all. I was in my warrior mom mode for sure. But after speaking with them, Patrick and a close friend, I realized I needed to take a step back. Yes, I want to help my son and do everything I can for him, but I also don’t want his entire childhood or life to be about his blindness or his speech issues or anything else that may come our way. I don’t want him to live his life in therapy working so hard that he’s never able to have fun and just be Finn, just be a kid. Additionally, the same goes for us. We don’t want to spend our entire life focused on the things that are so-called “wrong” with Finn when at the end of the day he is happy, healthy and thriving. We all need to find a balance of using the support and resources at hand while also just living and enjoying life. After taking in all of the recommendations, we moved forward with increasing his speech therapy to two days a week for now. We’ll give it until he turns three to see how much progress we’re making and reevaluate the need for more speech therapy then.

Since Apraxia is hard to officially diagnose in very young children like Finn, we did take one additional step by getting a hearing test to see if there might be hearing blockages causing or exacerbating the speech issues. We took him to Vanderbilt’s pediatric hearing and speech center where they ran three panels of tests that all ended with roadblocks. For the first test they played different sounds from different directions that Finn was meant to turn his head toward if he heard them. Two problems – 1) the sounds and responses are meant to be supported by visual cues such as pictures or video which obviously won’t work for Finn, and 2) he wouldn’t stop talking, crying or fidgeting long enough to listen. The second test was meant for three-year-olds and older, but they tried it anyway. The doctor spoke simple directions at different volume levels to see if he would hear and follow them. Again, he’s only two so what two-year-old do you know follows directions well? That was a bust. The final test was done putting wired plugs in Finn’s ears to detect vibrations and other physical reactions to sound. Finn kept ripping the plugs out and eventually the doctor determined that due to recent colds, both of Finn’s ear drums were too blocked with fluid to make the test effective anyway. After a two-month waiting period to get the test approved and booked by TEIS (Tennessee Early Intervention System), it was fruitless and just triggered more stress for all three of us. We will try again when we’re ready.

As for the new genetic test, of course we want answers, but at what cost? Even with the Apraxia development, the haystack has not gotten any smaller. According to Dr. S who researched it at length for us, there is no clear correlation between retinal detachments and Apraxia that would point to a more narrow panel of disorders for testing. When Finn was just days old, we started out on the quest for answers via appointments with specialists, the flight to Detroit for a second opinion, two surgeries under anesthesia, an MRI, blood tests, two rounds of genetic testing and just recently the hearing tests. Now two and a half years later, it has all resulted in no clear answers. That doesn’t mean we’ll never find the answer, but we don’t want to spend our life focused on finding one and we definitely don’t want to put our sweet boy through any more pain or struggle than necessary. Having a diagnosis could help us with knowing what might come our way in the future, but all of our medical team agree that it wouldn’t change our treatment plan. There is no magic pill to cure blindness nor one to cure Apraxia so we are doing all that we can for him. Knowing that, we are at ease with taking things as they come, at least for now. I’m sure we will revisit the haystack and do more tests down the line when they are easier for Finn, but in the meantime we continue with a healthy balance of therapy and letting a kid just be a kid!