Have you ever had the ultrasound tech stop what she was doing, and say she needed to go get the doctor? Well, I have. And it was one of the most heart wrenching things I have ever experienced. My pregnancy changed in a matter of seconds.
Being over-the-top excited to be seeing her precious little face on the ultrasound screen, to being hit with so much worry and sadness. Not knowing whether you are making the right choice to go against the doctor’s recommendations to terminate your pregnancy. Seeing specialist after specialist who each give you a different diagnoses. They say you start being a mother the second you find out you are pregnant, and “you will just know” you are making the right decision. At this point in my life, this is the best decision I have ever made; to go against what the doctors recommended. And with this decision, we were blessed with the happiest, most loving little girl anyone could ask for. On February 18th, 2013 at 4:49pm, Aubrey Emma Britt made her big debut into this world, and this is her story.
Aubrey was born a healthy 6lbs 6oz at 39 weeks 5 days. We were discharged at a normal time, just like any other new family, with the only explanation as to her bi-lateral bowed femurs being a skeletal abnormality. Three days after she was born, we took her to the emergency room suspecting that she was choking. They ran a few tests, and sent us home. The next day came around and the same thing happened so we took her back in. Mother’s instinct kicked in again, and I knew something was not right. We were admitted, and the doctors sedated and intubated my sweet little baby. No one had any explanation as to why she was having what they discovered to be seizures. Trial and error took place for the next few days, until we were blessed with yet another miracle.
Our neurologist was stumped. He tried medication after medication, and then sought out advice from his fellow associate, who is a geneticist. Coincidently, while they were at lunch, they had a guest join them, who happened to work for Alexion. Everything from this moment until Aubrey was five weeks old, flew by in the blink of an eye.
Aubrey-4AWith the help of Alexion, they determined her seizures are pyridoxine dependent, and from there, her labs were sent to Baylor where they discovered mutations in her ALPL gene. With these tests results, they were able to confirm her diagnosis of the perinatal form of hypophosphatasia (HPP). Luckily enough, we were accepted by Alexion to partake in the enzyme replacement therapy clinical trial, and Aubrey received her first injection at only 5 weeks old. Although all cases of HPP are not the same, in our case, the ERT is showing significant improvements in Aubrey’s bone density. She is growing at an even pace with the rest of her measurements. With HPP, we all know there is the good, and then there is the bad.
Aubrey developed hydrocephalus where her cerebral spinal fluid (CSF) isn’t draining properly from her brain and her skull gets
large. In November of 2013 at just 9 months old, Aubrey underwent neurosurgery, and had a VP shunt placed to correct this issue. Her head size has since decreased, and returned back to normal. With the increased pressure on her brain prior to being shunted, it had caused some delays / issues in other areas.
Aubrey has always been on the lower end of the charts. However, when we discovered her body was getting bigger, and her weight wasn’t increasing at the same rate, we knew there was a problem. Aubrey did not like to eat meals. We even tried feeding therapy. After trying for months, we opted to place a g-tube. The tube allows us to feed her more than she would normally eat, and stretch her stomach. When we got the g-tube placed Aubrey was 22 months old, and weighed a measly 17 pounds, which is what she weighed at 9 months old. For some reason, she just stopped gaining weight. I am happy to report the g-tube is doing its job, and she has gained 3 pounds since it was placed. Her appetite has also significantly increased.
As of today, Aubrey is now 2 years old, and the most elated little girl. She has taught me to be strong and trust my intuition. She has taught me that just because you are having a bad day, it doesn’t mean it is the end of the world. The most important thing she has taught me is that even though you may be “sick” or have a rare disease, it is no reason to sulk. I am 100 times stronger with her in my life, especially with the support of our HPP community and Soft Bones.
While searching the web for the limited amount of information published about hypophosphatasia, I was fortunate enough to come across Soft Bones. You want to talk about an informative, loving group of people; this is it! Even though, up until recently I had never personally met anyone with HPP, you were all so welcoming. I had finally found people I could relate to. I found families with different stories, but similar at the same time. As I start down my own path to diagnosis, I am thrilled to know I have this wonderful group of people to have by my “side”.
Whether I find out I am just a carrier, or I actually have HPP, I know how to be strong. I know how to be strong by witnessing Aubrey, and the amount of courage she exudes. I also know I will have an enormous amount of support for Aubrey and myself from the Soft Bones community. And for that, thank you all for reading. I thank you for your continued prayers, encouraging words, advice and most importantly, your friendship.