When your child has a rare genetic disorder, you become the expert. You have to. Research consumes you. Conversations with other parents make it bearable. Appointments are part of the routine. Sometimes, as the parent, you truly do know more than the doctor.
This can also lead to constant worry about the right decision being made~often wondering if we missed something. Did we make the right choice? I’m learning that just because things are going well and Nora is progressing, there’s a lot beneath the surface we need to watch closely. I’ve learned this from the experts. The parents.
The goal of this post is to applaud all the parents out there who advocate, push, question and decide. It’s a hard position to be in and the back and forth can make one crazy. When your child has a rare disorder, you are the expert and feeling as though your brain is in a million little pieces is part of the territory sometimes.
Many POLP travel all over the country to consult with specialists who are experienced with treating infants and children with dwarfism. We are not there yet, but it is a possibility. Many POLP fight for months, even years, to get genetic testing done to confirm diagnoses in order to get the best treatment for their children. Many POLP subject their children to one more test, one more MRI, one more sleep study because they have a gut feeling and they are right. It’s heartbreaking at times.
Just last month, I pushed for Nora to get a scope and a hearing test, which she wasn’t supposed to have until after she turned a year. It was recommended to do it sooner rather than later by other POLP and a specialist with whom we do not consult. My gut told me it didn’t make any sense to wait. We know that babies with achondroplasia have a tendency to build up fluid, are at high risk for chronic ear and sinus infections, may develop hearing loss and could possibly have structural abnormalities in the inner ear due to issues with bone growth or deformities. But, the specialist thought it was pointless because she responds and is talking. The test showed mild hearing loss and fluid sitting in her ear due to the chronic cold/viruses she’s had for about 3 months. Now, we can keep an eye on it, check frequently for ear infections and test again in a couple of months when hopefully, the fluid is cleared. I’m not sure why we would wait for my little love to have a hearing and language problem before checking. It was a fight I wasn’t willing to back down from. I was right. I’m glad I listened to the experts out there.
There are many more severe examples that I have come across. Some new parents are not even informed about the common treatment practices from birth for infants with achondroplasia. Nora had X-rays, blood tests, an ultrasound, an MRI and a sleep study all within her first 4 months of life. It was a lot and it was hard but it carved out a path for us. It gave us direction and confirmation. It gave us some peace of mind.
In other countries, the medical expertise related to dwarfism is minimal. That is a scary place to be. Across the globe parents are urged to treat with growth hormone therapy even though skeletal dysplasias are caused by a disruption in bone growth and the conversion of cartilage to bone. Hormones can do nothing to change that. Parents are relying on the expertise of their doctors but the rarity of the disorder and lack of knowledge leads to confusion and poor treatment.
Overall, I am very happy with Nora’s team. Some have more experience than others and that’s okay, as long as we feel listened to and there is an abundance of communication regarding her treatment. Our pediatrician listens to us and let’s us take the lead when it come to issues related to achondroplasia. If she doesn’t know the answer or best course of action, she consults with others who may have more experience. She calls us at home after hours to give us results and forwards reports. When Nora was born, she was upfront about never having a little person as a patient. She was willing to learn with us and join us on our trip to Holland. That’s all we can ask.