I am not quite sure how to start this post but to say that our little Abigail has gone through, and will go through, more than any child should ever have to.
Daily injections.
Medications every 6 hours.
Weekly weight checks and formula adjustments.
Routine lab work.
But, she is a fighter. She is a MMA fighter.
When Abby's birthmom was pregnant with her, she had no idea how little Abigail's body was growing and being formed. Oh, of course she knew how her heart, lungs, and little hands were growing. But, what she didn't know...what no one knew...was how Abby's DNA was forming.
On October 28th, Abigail was born a perfectly healthy baby girl...or so it seemed. Within 24 hours, her body temperature dropped, her blood sugar dropped, and Abby became very lethargic. She was immediately taken to the NICU where many labs and tests were done to see what was wrong.
Remember my blog on the fingerprints of God in Abby's life? Well, they started long before we even met her. Abby's parents are from China and had come to the United States to give birth to her. They chose to deliver at a hospital with an incredible metabolic team...only they didn't know at the time of choosing the hospital that they would be needing that metabolic team.
As tests were being done and different diagnoses ruled out, the metabolic team stepped in and began testing for metabolic disorders. Right away, Abby responded to the medications and formulas that the metabolic team prescribed and once her newborn screen came back, it was confirmed that she had a very rare genetic disorder called Methylmalonic Acidemia, or MMA for short.
For the next 4 weeks, Abigail's birthparents were faced with the hard facts about MMA and the realization that the dream of taking their baby girl back to China was no longer a reality due to the lack of metabolic clinics where they live. They were given choices. Choices that no parents should ever have to make. And while her parents made choices about her life, Abigail continued to fight and do well with the regimen of injections, medications, and formula adjustments.
Abigail's parents chose the most selfless decision they could- they chose to choose parents for Abigail here in the states so that their baby girl could have the best chance possible to live with this very rare genetic disorder. And, they chose us. As a NICU nurse, I felt prepared to do whatever necessary to help this child medically. As a new mom, I was scared but so incredibly humbled that my husband and I had been picked by two amazing, loving parents to be just that- amazing, loving parents to this sweet baby girl.
At 5 weeks old, Abigail was finally discharged from the NICU. However, her life of being poked and prodded was far from over. In fact, it was just beginning. So, what is MMA and what does that mean for Abigail?
What is MMA?
Methylmalonic Acidemia, or MMA, is an autosomal recessive genetic disorder. Meaning, that both of her biological parents are carriers of MMA but do not show symptoms. Her birthparents have a one in four chance of having a child with MMA. Here's how- each gene has one copy from mom and one copy from dad. The gene that we are talking about, the one that makes the enzyme to break down 4 essential amino acids, gets a copy from mom and a copy from dad. Mom has 2 copies on each gene as well- her gene has one copy that is working and one that's not, making her a carrier of MMA. Abby's dad is the same way. As long as you have one copy on that gene that is working properly, it counteracts the non-working copy and everything is fine. However, when two people who are carriers, meaning they each have one bad copy and one good copy, have a baby there is a chance that their child could be totally fine (both good copies from mom and dad) a carrier (only a bad copy from mom or a bad copy from dad) or symptomatic (both bad copies from mom and dad). In Abby's case, she received both bad copies meaning she is symptomatic. Hence, Abigail has Methylmalonic Acidemia. This means that Abby's gene that would make the enzyme that breaks down fats and proteins does not work. Abby can't break down any fat or protein, meaning incredible complications if not treated. However, Abby was treated almost immediately after birth and is doing very well.
How do you manage MMA?
Currently, Abigail is on VitB12 injections because one of the copies of her gene works slightly and the VitB12 helps that copy to break down the amino acids that make up protein. She is also on Levocarnitine which helps gives her energy. Abigail cannot drink just formula or breastmilk because her body can't break down the fats and proteins in the milk. So, she is on a special formula that contains the 4 essential amino acids her body can't make along with regular baby formula so that her body can get the nutrition it needs. She goes for weekly check-ups and routinely gets blood drawn to make sure all of her acid levels in her body are okay.
What does this mean long term for Abby?
Right now, it is hard to tell. Our bodies, especially when they are little, need lots of fat and protein in order to grow properly. In fact, that is basically all the brain uses to grow! She is constantly watched to make sure she is hitting her developmental milestones, staying on track for her height and weight, and continuing to grow appropriately. Right now, she is in the 25th percentile for height and weight and that is right where we want her. There are many complications that can come about with MMA; however, we are praying that God continues to put His hand of healing and protection over her little body and that those complications do not become a reality for her. With every ounce she gains and every milestone she hits, it is truly a miracle!
Abigail is a fighter. She is a MMA fighter!!
To read more about what Abby has, check out this link about MMA !
