I am still processing everything that comes with Emma’s new diagnosis and looking into everything and anything we can get our hands on about it. She now has a list of specialists longer than my own, therapies, and even more testing to be done. We were finally able to get in and talk with the geneticist about the details of Emma’s diagnosis. We found out that she has a nonsense mutation on the binding protein of the NR2F1 gene. The way I had to describe it so I understood what the heck was happening is that she has a pair of genes; one of the pairs is totally normal working great, the other gene is the villain and all it does is sabotage its counterpart. Ultimately we understand that out of all the types of mutations she could have, she got the worst and we now have to prepare ourselves for the new symptoms that will more than likely come up because of it. These symptoms can show up tomorrow or when she is 73 years old, we have no road map of when to expect these speed bumps and road closures but we know if we keep our maintenance up yearly and work on the things we can now we have a chance to help her get as far as she can.
We have recently started Emma on more therapies so as it stands now she has 5 different therapies every week: physical therapy, speech therapy, feeding therapy, vision therapy, and occupational therapy. She is doing PT, OT, feeding therapy, and group therapy at FBC weekly and speech and vision biweekly. After months of arguing and appealing, we have been denied for OT through Emma’s state services so we have had to go to a clinic to get her these services. They are denying her because they claim OT is not medically necessary for her diagnosis, the only issue anyone sees with this is that with Sensory Processing Disorder (SPD) the only “treatment” is occupational therapy. We decided that due to Emma going to feeding therapy at Phoenix Children’s Hospital, it was best to have her start OT there so that the two therapists can work together because we know that the SPD is causing many issues with her eating (or lack thereof). With all of these new therapies and upcoming specialists, Emma has appointments anywhere from 3-5 days a week, sometimes two a day. Getting her used to her new normal has been a bit of a struggle at times, especially if she has to wake up early for an appointment, but she has been a trooper and works at each of her appointments. In the past 7 days, she has already had ear tube replacement with a frenectomy for her lip-tie under anesthesia, feeding therapy, vision therapy, physical therapy, group therapy and had to get up early today for her flu shot.
We’ve noticed some very big improvements since some of the therapies she does have started. She is now willing to touch purees or similar consistencies and then put her hand in her mouth. This is a big improvement from barely eating an ounce of food a day to eating at least 3 ounces of food solely with her hands. Baths, both in the tub and sponge, have become even more frequent in this house and I have no issue with it whatsoever because who doesn’t love a clean baby out of the bath smell. We have been dealing with her aversion to spoons by trying out new and random items to use as a tool to get food into her mouth whether it be a pretzel rod, tongue depressor, or even a sponge. Until she decides she wants to eat, we will continue her diet of pediasure, vanilla only, daily so that she takes in some calories because one cannot get by on 1-4 ounces of puree or yogurt a day.
In physical therapy she is working so hard on her standing and learning the general idea of how to take steps. She still hates her AFOs, but like her glasses, after a while she forgets that she has them on. She has been able to stand for 3 seconds unassisted and hangs out in her AFOs and gait trainer for about an hour a day to help strengthen her leg muscles and her hips. Now that she is standing her hip dysplasia on the left side is much more pronounced so we are trying to work with her to correct how she stands. She is really working on standing without leaning against something or someone so it’s been a struggle to get her to stand unassisted because she is constantly trying to lean over. In the mix of standing we are teaching her how to walk, not the whole picture, just the first baby steps and the fact that if she moves her leg, she can move herself. It’s a lot of the therapist on the floor behind the gait trainer and me in front of her holding her iPad playing her favorite video. Teaching a concept like walking is one of those things that I and many others take for granted, my nephew could understand how walking worked by watching, that is something Emma doesn’t do, she is not a visual learner. It’s a lot of repetitions and manipulating her body to do what we want because she can’t/won’t watch us and then try to copy our movements.
I can see her internal struggle during therapy or when I’m working with her throughout the day of wanting that reward of watching a video on the iPad when she does what we want, but she knows how hard it is and sometimes that will not do it is stronger. We do everything we can to encourage her with her favorite songs and praise even when she just can’t stand it any longer. I know how far we can push her to work before she breaks down out of frustration and we work very closely with her therapists so they are aware of that too. Mixing terrible twos with a sensory outburst is just not a good time for anyone, at all. We know we are a long while out until she is ready to have less appointments but it is all one *literal* step at a time.
Emma Has Two Moms 