Morgan’s story begins before she was born. We had reproductive assistance getting pregnant with both of our kids, and I experienced two miscarriages between them. By the time I became pregnant with Morgan, I was 35 (Advanced Maternal Age), had two previous losses, and had blood clot issues, so it was classified as a high risk pregnancy. I took Lovenox injections every day to thin my blood, visited a Maternal Fetal Medicine specialist along with my regular OB-GYN appointments, had high-tech ultrasounds in the Perinatal Center every month to check her growth, and non-stress tests the last 6 weeks of my pregnancy. She measured fine all along, except I did deal with extreme morning sickness. I took Zofran throughout the pregnancy until about 25 weeks.
I passed the dreaded points of my losses, into the 2nd trimester, but still had a bit of anxiety of course. Just as I’m starting to relax thinking I can lose this stress/depression from infertility and miscarriages, at about 33 weeks, the ultrasound indicated that the ventricles in Morgan’s brain were enlarged. We were told to follow up in 3 weeks to see if they’ve increased, decreased, or stayed the same. At that point, worst case scenario was they’d need to insert a shunt after she’s born to drain the fluid, along with some concern about the pressure on her brain causing delays.
Three weeks later, the ultrasound showed the ventricles were the same. This time the doctor that reviewed it said it could possibly indicate that she’s missing her Corpus Callosum, a bundle of fibers that connects the hemispheres in your brain. We were told some people don’t have it at all and are “fine” but maybe a bit “clumsy”, but others are quite disabled. We followed up with an MRI a week later while she was in my belly. That confirmed she was missing the front and back parts, given the diagnosis of Dysgenesis of the Corpus Callosum. We learned the ventricles were filling in the extra space. Again, we were told she could be completely fine because the brain can learn to compensate, or she could be quite disabled, that we wouldn’t know until she started learning to crawl or walk. We figured she would be born, and we would deal with things “later” as they came up.
During my pregnancy, I had a LOT of extra fluid. Knowing what I know now, that should have been an early indication of her swallowing dysfunction. Towards the end, I was absolutely miserable, dare I say moreso that a “typical” pregnancy, because of the extra fluid. Nine days before her due date, after a full night of contractions that slowed just in time for my OB appointment that morning, we ended up inducing, as I was already 3cm. She was born 4 1/2 hours later…gorgeous and “fine”, no trip to the NICU (yet), but a very sleepy baby.
The next day the pediatrician visited, and we learned she had a deviated septum. Shortly after, we were transferred to the NICU because she was having problems feeding. We did attempt to breastfeed, but she was very sleepy and my milk wasn’t fully in yet. Her blood sugar was low and it was recommended to supplement with formula, and then the nurses noticed the problem. We were told she had her suck/swallow/breathe off: she would suck then breathe (or just not close it off) and aspirate, or she would suck, swallow, suck, swallow and her oxygen saturation levels would go down. After a swallow study, it was determined if we thickened breastmilk with some rice cereal, used a special nipple, and provided chin and cheek support, she would “pass”. So while she was feeding ok with the modified approach, she still couldn’t get enough volume on her own, so we weren’t released yet…she had an NG tube inserted in her nose to supplement when she didn’t finish. Diagnosis is called “Dysphagia”
In addition to that, we learned she had “hypotonia”, which meant her muscle tone was very low. This is why she couldn’t get enough volume in her feeds. We would later learn just how much that would impact our sweet girl’s gross motor capabilities.
While in the NICU, they ordered an ultrasound of her brain, and then another MRI since she was outside my belly to get a better look. The neurologist delievered some rough news. He described the results as her brain was “immature”, not as progressed as it should be. Her chart showed different clinical names: Multifocal pachygyria, hypoplastic cerebellum, shallow Sylvia fissures, an arachnoid cyst, a small brain stem & pons. In laymans terms, the folds in her brain aren’t as deep, her white matter isn’t as thick, and her cerebellum is underdeveloped.
The neurologist told us he “wasn’t God” and we would just have to see how she progressed as she grows up, she might benefit from PT and OT, and see how much therapy helps. There was no definitive prognosis. We were told more than once the brain is amazing and can find other ways to do things.
Just as Morgan starts to make progress on her feeds, at 8 days old she starts having facial twitches, which by day 10 became more severe and were fully diagnosed as seizures during an EEG. I think I cried every ounce of water out of my body that day.
The neurologist said it’s due to the brain immaturity. She was diagnosed with “Generalized Clonic Epilepsy” with activity coming from the left central, frontal, and temporal regions of the brain. An IV was started with phenobarbital to keep them at bay. We were lucky in that it only took the one drug (phenobarbital) to control them (at the time.) But, that was the day that it all changed….the neurologist stated that you can have brain malformation and have some hope that it will find other ways to do things, but once you start dealing with seizures, the prognosis is much more bleak. We tried to remain optimistic, some of us better than others, I did not do so well, despite being a typically optimistic person.
Day 15 we had an opthamologist look at her eyes because we had noticed her left eyelid was droopy and would rarely open. They called this “Ptosis” which would later be fixed by surgery with a “Frontalis Sling” (that happened when she was 8 months old). He also noted one of her optic nerves was smaller, likely related to the general brain malformation, diagnosed as “Optic Nerve Hypoplasia”, so she has cortical vision impariment.
Day 18 we finally got to remove the NG tube since she was able to take close to her expected volume by mouth, and wasn’t needing to be supplemented with the tube feeding. At 22 days old, we got released from the NICU with the modified feedings, seizure medication, and appointments to keep in touch with the neurologist and speech pathologist.
We started with early intervention when she was just a few months old. Since that time she’s had OT/Feeding every week, PT every other week from the home based setting, and PT every week from the hospital based setting. We’ve also added a dietician and vision therapist, and are lucky to have a few organizations in our area helping provide us with adaptive toys and equipment needed.
In December of 2012, Morgan began having a new type of seizure, where she would fling her body open and twitch for 20 seconds, relax for about 5 seconds, then another seizure for 20 seconds, and another relax, these would come in clusters that lasted up to 4 minutes. After an overnight EEG, Morgan was diagnosed with Infantile Spasms, one of the most severe types of epilepsy. She went through a month of twice a day ACTH steroid injections, and they seemed to do the trick, though she had some residual myoclonic seizure activity, which we are still trying to figure out.
We have successfully avoided a g-tube for feeding so far, she has always fed by mouth, though we have to thicken her liquids and be careful with the types of purees she’s given. We have swallow studies a couple of times a year, and she never looks good on paper, but the pulmonologist has agreed that since she’s never had pneumonia or lost weight, she continues to eat by mouth.
We didn’t pursue a diagnosis at first, we had all these separate diagnosis, but no over-arching name. A chromosomal microarray was done during the NICU time, and it didn’t indicate anything at the chromosome level. Her neuro told us that exome sequencing was just recently becoming a possibility.
We finally visited a geneticist early in 2014, and they decided to run a focused genetic panel on genes responsible for early onset epilepsy. FOXG1 was one of the genes reviewed. We’ve since learned she has a mutation on that gene, though it’s a silent variant, but Morgan definitely fits the description of a “FOX”. We are currently awaiting results from the whole exome sequencing, and should have further confirmation in early 2015.
Morgan turns three on November 21, 2014. She can roll to one side, and will kick and bat at toys, and loves her iPad, generously donated by our area Lions Club. She’s unable to sit unassisted, so she has a Stingray adaptive stroller/wheelchair, and also spends time in her stander and TLSO sitting shell. She wears AFO orthotics, and has a Spio vest for trunk control. She loves to chew on her right index finger, loves her sparkly mardi gras beads, water and music. She doesn’t talk, but she does verbalize with the intent well known (happy, crying, frustrated). She still feeds by mouth, and we are currently dealing with some remaining seizures, with the medication trial and error.
Though it sounds like we are one of the few families that found out something was wrong before she was born, I’m not sure it’s given us any advantage. Sometimes it feels like the prognosis has grown worse and worse, but we are determined to fight for our girl, her FOX sisters and brothers, and help her in any way we can.
She is our high maintenance girl, but she is SO easy going and happy, constantly smiling and loves people. It’s tough being her mama at times due to the circumstances, but just being around her can often pull me up. Particularly when I cry and I sniff (she loves that noise), she starts laughing SO hard, so there is no way I can continue to be down. Morgan’s story begins before she was born. We had reproductive assistance getting pregnant with both of our kids, and I experienced two miscarriages between them. By the time I became pregnant with Morgan, I was 35 (Advanced Maternal Age), had two previous losses, and had blood clot issues, so it was classified as a high risk pregnancy. I took Lovenox injections every day to thin my blood, visited a Maternal Fetal Medicine specialist along with my regular OB-GYN appointments, had high-tech ultrasounds in the Perinatal Center every month to check her growth, and non-stress tests the last 6 weeks of my pregnancy. She measured fine all along, except I did deal with extreme morning sickness. I took Zofran throughout the pregnancy until about 25 weeks.
I passed the dreaded points of my losses, into the 2nd trimester, but still had a bit of anxiety of course. Just as I’m starting to relax thinking I can lose this stress/depression from infertility and miscarriages, at about 33 weeks, the ultrasound indicated that the ventricles in Morgan’s brain were enlarged. We were told to follow up in 3 weeks to see if they’ve increased, decreased, or stayed the same. At that point, worst case scenario was they’d need to insert a shunt after she’s born to drain the fluid, along with some concern about the pressure on her brain causing delays.
Three weeks later, the ultrasound showed the ventricles were the same. This time the doctor that reviewed it said it could possibly indicate that she’s missing her Corpus Callosum, a bundle of fibers that connects the hemispheres in your brain. We were told some people don’t have it at all and are “fine” but maybe a bit “clumsy”, but others are quite disabled. We followed up with an MRI a week later while she was in my belly. That confirmed she was missing the front and back parts, given the diagnosis of Dysgenesis of the Corpus Callosum. We learned the ventricles were filling in the extra space. Again, we were told she could be completely fine because the brain can learn to compensate, or she could be quite disabled, that we wouldn’t know until she started learning to crawl or walk. We figured she would be born, and we would deal with things “later” as they came up.
During my pregnancy, I had a LOT of extra fluid. Knowing what I know now, that should have been an early indication of her swallowing dysfunction. Towards the end, I was absolutely miserable, dare I say moreso that a “typical” pregnancy, because of the extra fluid. Nine days before her due date, after a full night of contractions that slowed just in time for my OB appointment that morning, we ended up inducing, as I was already 3cm. She was born 4 1/2 hours later…gorgeous and “fine”, no trip to the NICU (yet), but a very sleepy baby.
The next day the pediatrician visited, and we learned she had a deviated septum. Shortly after, we were transferred to the NICU because she was having problems feeding. We did attempt to breastfeed, but she was very sleepy and my milk wasn’t fully in yet. Her blood sugar was low and it was recommended to supplement with formula, and then the nurses noticed the problem. We were told she had her suck/swallow/breathe off: she would suck then breathe (or just not close it off) and aspirate, or she would suck, swallow, suck, swallow and her oxygen saturation levels would go down. After a swallow study, it was determined if we thickened breastmilk with some rice cereal, used a special nipple, and provided chin and cheek support, she would “pass”. So while she was feeding ok with the modified approach, she still couldn’t get enough volume on her own, so we weren’t released yet…she had an NG tube inserted in her nose to supplement when she didn’t finish. Diagnosis is called “Dysphagia”
In addition to that, we learned she had “hypotonia”, which meant her muscle tone was very low. This is why she couldn’t get enough volume in her feeds. We would later learn just how much that would impact our sweet girl’s gross motor capabilities.
While in the NICU, they ordered an ultrasound of her brain, and then another MRI since she was outside my belly to get a better look. The neurologist delievered some rough news. He described the results as her brain was “immature”, not as progressed as it should be. Her chart showed different clinical names: Multifocal pachygyria, hypoplastic cerebellum, shallow Sylvia fissures, an arachnoid cyst, a small brain stem & pons. In laymans terms, the folds in her brain aren’t as deep, her white matter isn’t as thick, and her cerebellum is underdeveloped.
The neurologist told us he “wasn’t God” and we would just have to see how she progressed as she grows up, she might benefit from PT and OT, and see how much therapy helps. There was no definitive prognosis. We were told more than once the brain is amazing and can find other ways to do things.
Just as Morgan starts to make progress on her feeds, at 8 days old she starts having facial twitches, which by day 10 became more severe and were fully diagnosed as seizures during an EEG. I think I cried every ounce of water out of my body that day.
The neurologist said it’s due to the brain immaturity. She was diagnosed with “Generalized Clonic Epilepsy” with activity coming from the left central, frontal, and temporal regions of the brain. An IV was started with phenobarbital to keep them at bay. We were lucky in that it only took the one drug (phenobarbital) to control them (at the time.) But, that was the day that it all changed….the neurologist stated that you can have brain malformation and have some hope that it will find other ways to do things, but once you start dealing with seizures, the prognosis is much more bleak. We tried to remain optimistic, some of us better than others, I did not do so well, despite being a typically optimistic person.
Day 15 we had an opthamologist look at her eyes because we had noticed her left eyelid was droopy and would rarely open. They called this “Ptosis” which would later be fixed by surgery with a “Frontalis Sling” (that happened when she was 8 months old). He also noted one of her optic nerves was smaller, likely related to the general brain malformation, diagnosed as “Optic Nerve Hypoplasia”, so she has cortical vision impariment.
Day 18 we finally got to remove the NG tube since she was able to take close to her expected volume by mouth, and wasn’t needing to be supplemented with the tube feeding. At 22 days old, we got released from the NICU with the modified feedings, seizure medication, and appointments to keep in touch with the neurologist and speech pathologist.
We started with early intervention when she was just a few months old. Since that time she’s had OT/Feeding every week, PT every other week from the home based setting, and PT every week from the hospital based setting. We’ve also added a dietician and vision therapist, and are lucky to have a few organizations in our area helping provide us with adaptive toys and equipment needed.
In December of 2012, Morgan began having a new type of seizure, where she would fling her body open and twitch for 20 seconds, relax for about 5 seconds, then another seizure for 20 seconds, and another relax, these would come in clusters that lasted up to 4 minutes. After an overnight EEG, Morgan was diagnosed with Infantile Spasms, one of the most severe types of epilepsy. She went through a month of twice a day ACTH steroid injections, and they seemed to do the trick, though she had some residual myoclonic seizure activity, which we are still trying to figure out.
We have successfully avoided a g-tube for feeding so far, she has always fed by mouth, though we have to thicken her liquids and be careful with the types of purees she’s given. We have swallow studies a couple of times a year, and she never looks good on paper, but the pulmonologist has agreed that since she’s never had pneumonia or lost weight, she continues to eat by mouth.
We didn’t pursue a diagnosis at first, we had all these separate diagnosis, but no over-arching name. A chromosomal microarray was done during the NICU time, and it didn’t indicate anything at the chromosome level. Her neuro told us that exome sequencing was just recently becoming a possibility.
We finally visited a geneticist early in 2014, and they decided to run a focused genetic panel on genes responsible for early onset epilepsy. FOXG1 was one of the genes reviewed. We’ve since learned she has a mutation on that gene, though it’s a silent variant, but Morgan definitely fits the description of a “FOX”. We are currently awaiting results from the whole exome sequencing, and should have further confirmation in early 2015.
Morgan turns three on November 21, 2014. She can roll to one side, and will kick and bat at toys, and loves her iPad, generously donated by our area Lions Club. She’s unable to sit unassisted, so she has a Stingray adaptive stroller/wheelchair, and also spends time in her stander and TLSO sitting shell. She wears AFO orthotics, and has a Spio vest for trunk control. She loves to chew on her right index finger, loves her sparkly mardi gras beads, water and music. She doesn’t talk, but she does verbalize with the intent well known (happy, crying, frustrated). She still feeds by mouth, and we are currently dealing with some remaining seizures, with the medication trial and error.
Though it sounds like we are one of the few families that found out something was wrong before she was born, I’m not sure it’s given us any advantage. Sometimes it feels like the prognosis has grown worse and worse, but we are determined to fight for our girl, her FOX sisters and brothers, and help her in any way we can.
She is our high maintenance girl, but she is SO easy going and happy, constantly smiling and loves people. It’s tough being her mama at times due to the circumstances, but just being around her can often pull me up. Particularly when I cry and I sniff (she loves that noise), she starts laughing SO hard, so there is no way I can continue to be down.