specialneedsmom – Emma Has Two Moms

Tubie or not Tubie

November 15, 2019November 15, 2019Emma Has Two Moms

It’s taken a few days to write this because even though I’ve had time to process the idea of it, hearing it’s now our reality it’s harder to write this than I thought it would be.

For the past couple of months, Emma has been in a slow food regression. She is having a very difficult time eating purées and yogurts, and is only taking in anywhere from 0 to only 4 ounces a day. Drinking both pediasure and water in bottles has decreased significantly as well to now drinking an average of 16 ounces combined a day when she should be drinking 36 ounces or more. We’ve noticed her weight is at a plateau but the most significant thing that is noticeable is how she isn’t growing. She is still fitting in 12-18 month pants and even her physical therapist can tell when holding her she is losing muscle tone and fat. She is doing feeding therapy (along with OT, PT, Vision, and Speech) weekly but even with that she is still in a regression.

With all that said, along with our GI and feeding therapist, we have decided on having a g-tube placed for Emma to get the nutrition and hydration she needs. This will be an inpatient surgery and we will get to hang out in the hospital for a couple of days after to make sure we get the right combo of bottles and tube feeds down and are comfortable doing everything on our own at home. We are making this decision so that Emma doesn’t have a regression like last time that was 6 months of barely eating and not gaining a single ounce. Our surgery is scheduled for mid-December and in the meantime we will keep doing what we are doing and working with her to increase what she is taking in.

We know that there is a chance that she can come out of this regression on her own with time, but instead of sitting back and waiting until she gets worse, we are making the proactive decision to schedule surgery and change things if needed when the time comes. For me, it is more important that we have our ducks in a row and things scheduled because it is ALWAYS better to have something on the books then cancel it versus letting things get worse and have to wait even longer to get it scheduled in the first place.

New day, new appointment

October 24, 2019October 24, 2019Emma Has Two Moms

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.

Our Little Princess

December 7, 2018December 7, 2018Emma Has Two Moms

My little princess is 16 months old and practically perfect in every way. It’s that tiny imperfect part that I want to talk about now.

Being told that your child is not “on track” with their development is something that will stop you dead in your tracks and you will do most anything to figure out why. At 4 months we had a concern brought to our attention by Emma’s daycare teachers about her sight and tracking. At this time we brought her to her pediatrician and we were told that her sight just might not be developing at the rate it should and we shouldn’t worry but if we wanted to we could receive a referral to a pediatric ophthalmologist. We chose to go that route, we wanted to leave no room for error or leave it for now in the event it was something that needed to be fixed asap. We were referred to our 1st ophthalmologist and it took nearly a month to get in with him and in that time we realized that her tracking and sight really weren’t moving along since we first took notice. When we saw the ophthalmologist, he was able to confirm that physically and anatomically everything that had to do with her eyes was normal, however the unable to be seen by human eye was what caused concern. And due to Emma being a baby and not being able to voice her problems and what she could and could not see we decided to dig deeper and do an MRI of the brain to see if it was something with the optic nerve or even the brain. So at nearly 5 months old Emma experienced her 1st round of anesthesia for her MRI, the results of this scan did little to help with our nerves as the only thing it showed is Bilateral Esotropia (cross-eyed). So all in all this test didn’t really help us and all the ophthalmologist said was to see him back in a few months to discuss further treatment for the cross-eye.

Unfortunately in the meantime we noticed more and more that Emma was not progressing as she should and was unable to do the typical milestones for each month. She hated tummy-time and never pushed up on her hands and knees, she never sat, she hated eating most anything besides certain purees that we made and her bottles. We knew that something else was going on besides just her lack of tracking and went to the pediatrician yet again. At this time he agreed with what we were having issues with and sent us to see a Neurologist to try to pinpoint what was going on. The neurologist agreed that she is developmentally delayed and suggested we do panels of genetic testing and start her on Physical Therapy, Occupational Therapy, Speech Therapy to stop her delay from becoming worse. We did not delay in getting on top of these things and found an outpatient clinic that had all the therapies she needed not to far from home. She started PT first and after her evaluation at 8 months old we were told she was developmentally at the level of a 3-4 month old. We did both PT & OT once a week so that we could start her working up to where she should be. After some time we noticed that she was slowly but surely starting to do more and more and was making improvements all the time. At this time we were going to the therapist’s office 3 times a week and making a mess of everyone’s schedules. We started to do more research about government and state assistance and found a few different programs that Emma qualified for.

Figuring out what was going on with her eyes was still the issue we were having. We went through two different ophthalmologists and finally ended up at a Retina Specialist. The retina specialist was able to perform more specific eye testing after Emma turned 1, so until then we were sitting ducks. Finally it was time for her to have this testing. We checked in at Phoenix Children’s Hospital and she had her second round of anesthesia for testing. They did five different tests to try to get us more answers including a test that tested the rods and cones reaction as well as a test that is essentially an EKG for the eyes. Once these were done we spoke with the specialist and he let us know we finally have a diagnosis for Emma. She was diagnosed with Bilateral Optic Nerve Atrophy and a possible CVI (Cortical Vision Impairment, but that won’t be officially diagnosed until she is older and can do more testing where she can indicate what is going on verbally.) With this information, we can now try to do different vision and sensory therapy and activities to help Emma use her other senses in lieu of vision. We are on wait lists for even more specialist for the future to help us see if there is a possibility of gene therapy or treatments.

In Arizona, there is a program through the state that Emma qualified for they have been amazing for us so far for the things we can do in the now. We have a case worker who coordinates everyone and through them have a Developmental Specialist, Physical Therapist, Occupational Therapist, and Speech Therapist. Along with this program we were also introduced to the Arizona Foundation for the Blind and Visually Impaired who work with the other services via a Vision Specialist as well. These programs have allowed us to leave the outpatient facility that was starting to charge due to insurance only covering a small portion of the bill and have treatment in our own home and all together so that we don’t have to miss work or have her at an office where we are unable to recreate many activities or exercises at home due to lack of equipment. Slowly we see improvements every day and as of this week, at 16 months old, we have a sitter!!! We see her specialists every few months and do any and all testing we can to ensure she receives the best care that is directly tailored to her growth. Every day is a struggle but all we have to do is look at her beautiful little face and we are reminded that she was born this way and we will do whatever she needs to ensure her happiness and success.