A slight turn in the journey.

A few months ago our occupational therapist and I were both at a loss as to what to do with Squaky. We couldn't find anything else to help her calm down. Every day I felt like I was just running in circles trying to entertain, clean her messes, or discipline her. I was exhausted. The therapist suggested that we have a developmental specialist check her out just to be sure we weren't missing anything. Just to be sure that where she was slightly delayed now, didn't turn in to a large delay later on, because of something we missed. I agreed that it was a wise idea to just be sure. I scheduled the appointment, but it was a 3 month wait to get in with the specialist.

The day of the appointment there was blowing snow and frigid temperatures, just like last year when we had our single car accident. I really didn't want to go out, but knew how important this appointment was. Just ten minutes after leaving home, I spun out on the freeway. While I was nearly hyperventilating on the side of the road after we stopped, Squaky looked up from her game and said "Mom, why are we stopped? Why is that man coming over here? Mom, you made me lose my milk lid. Mom, just go! I don't want to sit here!" She had absolutely no idea what had happened. In some ways I was thankful. Thankful she did not see the spin and the cars & semis headed straight at us. Thankful she wouldn't be scared or have visions replaying in her head as I did. However, realizing how clueless she was made me even more determined to make it to the doctor's appointment.

After spending over two hours on horribly icy roads, we finally arrived at the Medical Genetics and Neurodevelopmental Center. We spent over an hour with the doctor. He was so kind and good with her. We went over all her medical history and therapies. When he finally laid her on the table to examine her body, he immediately said "I know exactly what's going on here!"

After a few more minutes of examining her body, he sat back down to tell me the diagnosis. Hemihypertrophy, brain asymmetry, and ADHD. Meaning, half of her brain is not the same size as the other half, and is causing her SPD & ADHD, amongst other things. He asked if I was symmetrical, because given her symptoms, he thought she has the genetic version which meant that she more than likely got it from me. I told him I wasn't sure. Later on I dug out old scans of my brain from when I had a concussion when I was 16 years old. Sure enough, it is very obvious that the two halves of my brain are not the same size at all.

So, what does this all mean? The first thing it meant was that she needed a kidney/bladder ultrasound to make sure she was functioning properly. We did that this last Tuesday. It was very clear in her ultrasound that she had some sort of mass just above her bladder. The technician couldn't tell me what it was. She left, spoke with the radiologist, and came back to take more pictures. She said that the radiologist wouldn't tell us what it was at that time, and we would have to wait till the doctor had the results and could talk with us. I asked if she could tell the density and she said it could be anywhere from a cyst to a tumor, she just simply could not tell, but that we should be expecting more tests.

While waiting for those results, as I'm sure any mom would do, I started researching these newly diagnosed disorders, and joining online support groups to connect with other parents. The information I found was scary. These puzzle pieces should have been put together long ago. Most kids with hemihypertrophy are diagnosed within the first few months. We had the signs. She had laryngomalacia, one leg longer than the other, hip hysplasia, and an enlarged liver for her size. Unfortunately, even though we were at a children's hospital, the pieces were still not pieced together. In some ways that makes me mad. In other ways, I am thankful. Had she been diagnosed at birth, we would have been having ultrasounds every 3 months, and blood draws every 6 weeks. Or at least that's what I am finding to be standard protocol for kids under age 4. We were spared a lot of radiation being put into her little body, and for that I am thankful.

After an excruciating few days of waiting, we finally were able to talk with the genetic counselor today (Friday). They have determined that the mass they found is just soft tissue growth and nothing to be concerned about at this time. Though quick growing abdominal tumors are a frequent side affect of hemihypertrophy, this does not look like one of those. So for now, we are good. Next week they will be calling me again to go over things more, but for now, they said I can rest easy knowing that she is healthy.

I have no idea where this new portion of our journey will take us, but I am thankful for good doctors and therapists who have the knowledge to help us. Without the therapist's suggestion we would have never made this discovery, and I am so thankful for her referral.

As we have new information, we will keep everyone updated. For now, we can just be thankful that she is healthy, and pray that she will continue to stay tumor free.

(Also, unless there is a need, we don't intend on telling our kids the severity of what could happen. These are not things they need to worry about. We want them to be worry free kids as long as they can be, so please don't talk to the kids about this. It is our hope that we will not ever have a need to tell them.)