One day as I was driving, I had the thought to do GA-1 spotlight blogs about other families who are living in the world of a GA-1 diagnosis. These are families that I have met through a GA-1 support group on Facebook and they have given me permission to tell their story. I asked several questions to get to know them and their story so that I can share it with you.
My goals in doing this are: 1) to bring awareness of GA-1 to the forefront 2) to make people more comfortable and accepting when we see children or adults with disabilities 3) To promote medical research in the scientific community for GA-1 and 4) to educate people. You can also pray for these families when you pray for Reagan. GA-1 is a relatively unknown disorder, it lives in the shadows of life and when our little ones get sick and go to the hospital, we are educating the hospital staff…it should not be this way. We need people to understand this disorder and this is my way of helping to bridge that gap.
Meet Melissa, or as her friends call her, Mellie. She’s a beginning runner, amateur photographer, Starbucks aficionado and has a full time job that she commutes to. She’s rather shy and introspective, so I’m SO glad she’s opened up her incredible heart to help bring awareness to GA-1. She has two children “J” is five and “C” is two. Her and her husband are loving parents to these two cutie pies and this is her GA-1 story.
You may look at this picture and figure it’s obvious that one child is affected by GA-1. But what might surprise you is that they both have the rare inherited genetic disorder, GA-1. This disorder does not play favorites and affects people completely differently which is why more research and awareness is needed.
AM: When did you first find out about the GA-1 diagnosis?
Mellie: I first learned of the possible diagnosis for my son a few days after he was born. I got a voice message from a doctor saying he was calling about newborn screening results. I had a strong feeling that something was wrong…and when I called back, he explained that he had screened positive for GA-1. He said there was a 90% chance it was a false positive, and I held onto hope until we received the confirmation when he was 10 days old and he called again.
AM: What was your reaction to the diagnosis confirmation?
Mellie: When I got the confirmation phone call about my son, I asked the doctor if he was SURE because one of the test results hadn’t yet come back. He said that he was. I knew there were dietary implications so I wanted to know how to proceed from getting the diagnosis. I was doing my best to nurse him while supplementing with formula, but he wasn’t quite getting the hang of it. We made arrangements to meet the next day and he said to carry on as normal for the moment. I hung up and immediately called my mom and husband. I told my mom that we got the confirmation, and “it wasn’t good.” They both arrived to the house in record time, and while I waited, my dad happened to call. I remember crying and telling him our son had a really bad disorder and he might be really disabled and he might die…I was still on the phone with him when my mom got there and they spoke briefly, but I heard none of their conversation as my mind was simply whirling and twirling. I don’t even remember where my baby was during these moments, hopefully sleeping.
AM: What are some moments in receiving that information that you’ll never forget? For instance, memories that are embedded into your mind forever during that time?
Mellie: I can still feel the tears on my cheeks and my runny nose as a very visceral memory. The next day, we traveled to the hospital a couple hours away with our son and my mother, as support, to meet the team and ask questions. On the team when we got there were a geneticist (the one that had called us), a genetic counselor, pediatrician, nurse, and I don’t remember who else. Seemed like there was more… I remember thinking, wow it really takes a VILLAGE and we have one. I was also thinking that no one is guaranteed a healthy child, with no challenges ever in life. I thought: “Some kids get hit by buses. This is our bus and it got here early.” The first several weeks after I was depressed but in “go” mode and trying to take care of what needed to be taken care of.
AM: Since receiving the GA-1 diagnosis, how has that affected your daily living/family life? And if you have other children in your family, how have they been affected?
Mellie: For my second child, we opted to get tested prenatally so we could be prepared mentally and physically. We knew we had a 25% chance of her having GA-1 as well, although odds were in our favor that she was unaffected. I was so sure that she would be in the 75% that would not be affected. But I reasoned with myself that if she did have it, we would be in the perfect position to care for her since we knew so much about GA-1.
AM: Does your daughter have GA-1?
Mellie: As it turned out, I was wrong about her not having the diagnosis. And, I was very, very sad about it, much more so than I expected. When I got the call, I was 19 weeks pregnant. The counselor that I had met with knew that the reason we wanted the amnio test was so that we could prepare for her birth if it turned out she had it, and put our minds at ease if she did not. So it really sickened me and saddened me when she unexpectedly offered that we had a possibility to select medical abortion up to 22 weeks. I don’t understand why she suggested that. The pregnancy itself was going well. She knew my son, as she is his genetic counselor, and how awesome he is (in spite of his disabilities that did result from GA-1). She knew me and my wishes…. so why would she offer this to me when I had already fallen in love with my daughter and celebrated the sensation of her kicking in my belly? It was ridiculous and very, very upsetting. I got over it, as best as you can, and we moved on. After getting off the phone with her I called my husband and told my boss I was leaving work for a few hours. I went shopping and purchased her first baby clothes. I was determined to try to not let it worry or upset me, but it still did, for a while. We carried the belief that we would have a solid plan for her when she was born and throughout her life to minimize the risk of complications.
AM: You mentioned your son had complications and some disabilities related to GA-1, can you tell me about that and tell me a little more about him?
Mellie: Through our son having this diagnosis, we were suddenly and unexpectedly catapulted in the world of special needs parenting against our will. My son never met his developmental milestones on time. I noticed when he was an infant that he seemed unusually stiff. He had difficulty with tummy time, he hated it, but more than that, he had difficulty holding up his head. At first, they said it might be because of his unusually large head. You see, for kids with GA-1, a large head size is a marker of the diagnosis and he was above the 99% mark with his head circumference. I knew it was more than that though.
I was successful in calling our regional center and getting him assessed for early intervention services. He qualified and we began the process of having occupational therapy, and eventually, physical therapy. Another mom with a child who also has GA-1, who lives across the country, gently suggested to me in a phone call that he was showing signs of dystonia as his hands were almost always fisted. I asked our pediatrician for a referral, and we saw a neurologist, who confirmed that suspicion. He was 8 months old at that point.
Now, at age five, he continues to need assistance with many activities of daily living. He is not potty trained, and while he eats by mouth, he needs assistance with feeding as his dystonia affects his fine motor control, and he is not able to hold his own fork, or spoon, for more than a few seconds at a time. He is not able to sit up independently, or walk, or dress himself. He has subsequently been labeled with a diagnosis of cerebral palsy, no new brain damage, just a new “label” that gives him access to more services. He enjoys diving face first into a plate full of food, and has learned to drink from a straw and a thermos style cup placed in front of him on a tray or a table. He can roll, scoot and grab things. His hands are much less fisted then they were and he is getting better control over opening and closing them with intention. His speech is delayed and he is hard for others to understand. He speaks almost as much with his eyes as he does with his mouth. He loves to laugh and is super funny, intelligent, affectionate and kind.
AM: Did your son ever have a metabolic crisis?
Mellie: He didn’t have a defined moment where he had a “crisis.” At times I think it could have been prenatal. His early difficulties with latching, being stiff, and throwing himself backwards (rather than nursing) may have been signs of a crisis. However, I believe, that it may have been from an illness. Just two days after his GA-1 diagnosis, he got RSV and ended up hospitalized at just 2 weeks old, and I don’t believe was properly treated. When we first took him in that morning, we were dismissed. Even though we had his diagnosis, the pediatrician we saw (who incidentally had never heard of GA-1) told us that we were overzealous new parents, and that he just had the sniffles and to go home. They taught us how to suction his nose. Later I was able to get ahold of the geneticist who told us to get back to the ER. Once there, it took them four hours to put an IV fluid in him. Dehydration is very bad for kids with this disorder, and I believe the Dr.’s actually allowed him to get dehydrated that day. We didn’t get told he had a “crisis” at that point, and yet, I think he did. At times I think about getting his medical records from that stay. I think I might find some evidence and sue them, but what for? It just makes me get angry and it won’t change anything. We probably wouldn’t win. And winning wouldn’t make all this better because even winning can’t let us have a do-over.
AM: What does your daily life look like?
Mellie: Our lives now involve ensuring their daily nutrient needs are met, which involves a lot of planning with their meals and preparing ahead of time when we are out of the house. We try to make our lives as normal as possible and make the world as accessible as possible for our son. Both our kids have started in preschool. We avoid certain things in the wintertime, such as indoor play areas, but we largely have a normal life. We have therapy twice a week for my son, and regular lab work, clinic appointments, and are followed by neurology. We also do therapy at home with our son, including trying to get him into a standing frame seven days a week, in his gait trainer, stretches of his legs, shoulders, ribs, and oral motor therapies.
AM: Tell me about your daughter.
Mellie: One thing that was different was that while I was able to nurse my son occasionally as a newborn and supplement with the special GA-1 formula, I was not allowed to nurse my daughter at all. I think they decided to be more conservative that time around. She’s now almost three, at that “golden” age where the risk starts to decrease more. She did have some gross motor and speech delays early on. She walked on her knees until she was 19 months. You would never know it now; somehow, light bulbs just started flashing for her and she has completely caught up to her peers with her development, and she is very bright, funny, and loving like her brother. I don’t like to think of the possibility that her developmental gains could be taken away in an instant, even though, intellectually, I know that’s a possibility. I would rather just celebrate where she is today.
AM: Tell me something you found to be challenging while having two young GA-1 kids?
Mellie: We had to ensure that they had enough hydration during the night and for several months we fed them every 3 hours during the night on the clock even if that meant waking them up (which it almost always did). That was very exhausting and challenging knowing how much their overall well being hinged on their nutrition, much more than most babies.
AM: What is something you wish people knew about your whole experience?
Mellie: I wish people would know that there is nothing heroic or amazing about what I do for my kids. Telling me that I am amazing is not helpful because I don’t accept it. I would rather not be amazing, and would rather be ordinary with ordinary problems, not problems like worrying if my kids are getting brain damaged every time they are sick, or whether my son will walk one day or live independently. I am just a mother, like any other normal mother; doing the best I can to do my very best for the kids. It’s rather normal. At times, I fall short of my expectations, feeling like, I HAVE to be AMAZING. But I try to just pick myself back up and strive to do my best rather than perfection. Any of you taking the time to read this would do the same.
AM: Thank you for opening our eyes to your GA-1 experience. Can you tell us a little bit more about yourself?
Mellie: I’m a beginning runner, amateur photographer, Starbucks aficionado and a full-time employee and commuter. I’m often shy and introspective around those I don’t know well, but I’m proud to say that I have been coming out of my shell since becoming a mother. I don’t sweat the small stuff, and I roll with the punches, but I often worry that I worry too much about things beyond my control. I’m a working mother to my loves J (5 years old) and C (2 years old). My hubby is my partner in more ways than one; he gets the morning shift with the kids, and I get the evenings, due to our opposite work schedules. He offers optimism, when I’m afraid, and I heap on a dose of reality, if he isn’t afraid enough. We are learning and growing both as people, partners, and as parents, constantly. Our children were born with a rare, inherited, genetic disorder. This condition has caused our son to have multiple disabilities, but has not affected our daughter in the same way. We know life could change in an instant, especially in light of their rare diagnoses (which can cause neurological damage especially in the first six years), but instead of waiting for the other shoe to drop, we choose to enjoy each day as best as we possibly can in our new normal. Becoming a mother has made me a better person. To follow more of Mellie’s story, click here.