First of all when I was pregnant with Liam EVERYTHING was normal. My FIRST & SECOND trimester went fine. Blood tests are normal. Then on our THIRD trimester, complications started to arise. Everything went fast after that. I'm talking about weekly hospital admissions, NSTs (Non-stress tests), weekly ultrasounds, IVs, steroid shots. In short hospital became our second home.
The diagnosis stated below as of the Genetic Testing Results and Genetic Doctor the nature of this disease is that it shows normal pregnancy on your first and second trimester, then complications start to develop on your third which is the same on what happened to Liam. Here's the definition of RENAL TUBULAR DYSGENESIS,
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).
***This is the reason why I have low amniotic fluid and the reason why Liam's lungs are too small.
Why Amniotic fluid is important?
Amniotic fluid is inhaled and exhaled by the fetus. It is essential that fluid be breathed into the lungs in order for them to develop normally. Swallowed amniotic fluid also creates urine and contributes to the formation of meconium. Amniotic fluid protects the developing baby by cushioning against blows to the mother's abdomen, allowing for easier fetal movement and promoting muscular/skeletal development. Amniotic fluid swallowed by the fetus helps in the formation of the gastrointestinal tract.
How common is renal tubular dysgenesis?
Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown.
How do people inherit renal tubular dysgenesis?
Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. With 25 % risk of recurrence in another pregnancy. 1 out of 4.
Here's a diagram to easily understand this case;
Yup. That's the crazy truth. Of all the people around the world Brendan and I met not knowing we are both carrier of a fcked up gene. Sad but we need to accept it. Well I'm proud to say that after all of the trials and issues that Brendan and I are facing, we are still TOGETHER and getting stronger. I know Liam would want that. Anyway the chance of having a healthy baby is high (75%) and that there are additional tests that can be done to know if our baby is healthy. But for now that's not our priority. We still need to heal and recover. I know it takes time. We're not in a rush anyway. I always keep in mind that everything happens for a reason and God has a better plan for us. We'll see what the future will bring us.........
