As the ultrasound pictures became clearer we analyzed Alli's heart from infinite angles, finally settling on not just "a hole in her heart," but a large hole in her heart and several abnormalities on the continuum of tetralogy of fallot. "Not to worry" we were told. "Her heart defects can be repaired." Children with repaired tets go on to play sports, become olympic athletes (Shaun White has tetralogy of fallot), and live a "normal" life. And so we prepared ourselves to welcome another little girl in to our world. We would fix her heart and love her and do everything we possibly could for her.
When Alli was born I remember staring at her in the delivery room (for the 30 seconds they let me look at her) desperately trying to tell whether or not she had Down Syndrome. I was taken aback at how much she looked like Samantha. We talked about how she came out kicking and screaming and rejoiced that she was "pink" as it had been predicted, but no one said anything about whether or not she had Down Syndrome. As my doctor was sewing me up, I finally worked up the courage to ask him directly. He told me that it appeared that she did. She had low tone, an extra space between her toes, low set ears, all visible markers of Down Syndrome. I remember him wanting to hurry up and finish sewing me up so I could get out of the operating room and see her for myself. I cried in the recovery room. I cried until they took me to the nicu and I held her for the first time and then my tears stopped. We put each other at ease from that moment on.
Over the course of the next few months we marveled at how well she was gaining weight and how her many heart defects were balancing each other out. We dutifully took her to the cardiologist every two weeks to check her sats, her weight, her blood pressure, and get an occasional echocardiogram. Everything was on track for her to have surgery around the 1st of the year. We started working through the Babies Can't Wait program (Georgia's early (or not so early, as the case may be) intervention program. At her initial assessment we were told that Alli didn't qualify for services (she was in the 53%), but that they would follow her with a special instructor. I can't even begin to describe how ludicrous it is to prescribe a special instructor for a child with Down Syndrome, especially since she wouldn't receive another evaluation for 6 months. I liked our special instructor and we worked with her weekly, however, she admittedly had no experience with infants or Down Syndrome. That is also ridiculous.
Life started to change right around when Alli turned 4 months old. I began to notice her having these weird jerking movements. They initially looked like muscle spasms, but then they began happening with greater frequency and in series. I remembered an email Jason had forwarded to me from his DADS group regarding a child that had been diagnosed with infantile spasms. I googled it, videotaped it, and took Alli to the emergency room at Scottish Rite. This was the beginning of an unbelievable chain of events.
They admitted us that Sunday evening and scheduled an EEG for Monday. Children who have infantile spasms have a specific pattern in their EEG known as hypsarrhythmia. You either have it or you don't. As it turned out, Alli had it, and we were able to begin treatment. The common treatments for infantile spasms include high dose prednisolone, ACTH, and vigabatrin. Given Alli's heart condition, the decision was made to try prednisolone as the first course of treatment. In the meantime, the hospital called for a cardiology consultation, as they had noticed Alli's oxygen saturations dipping in to the 60's. The on-call cardiologist, Dr. Samai, had an ECHO done and immediately had us transferred from Scottish Rite to Egleston by ambulance (thankfully, no lights and sirens). Given Alli's desaturations he felt that her surgical repair was imminent and wanted her to be monitored at Egleston until her surgeon, Dr. Kanter, returned from vacation the following week.
We arrived at Egleston and were greeted by our nurse, Gillian. She would become Alli's favorite nurse over the course of the week and took excellent care of Jason and me, as well. Her soothing British accent seemed to put Alli right at ease and she had a remarkable way of working with Jason and I to help alleviate her oxygen desaturations without resorting to morphine or other measures. She gave us our space, but I sensed was always keeping a watchful eye on the situation, knowing when intervention was truly necessary. By the time Dr. Kanter returned, Alli's desaturations were going in to the 40s and 50s. What was remarkable was that her desaturations, "tet spells," were often without the inconsolable crying we had been told to look for.
Alli's surgical repair was a success and according to Dr. Kanter "didn't happen a second too soon." He noted that she had an absent thymus - something they would have removed during surgery - and sent off some samples to ensure there were no other genetic abnormalities (specifically looking for DiGeorge Syndrome - common in patients with tetralogy of fallot and absent thymus). Her test results came back showing Down Syndrome as her only genetic abnormality (huge sigh of relief for Megan!).
Alli was discharged 8 days after surgery. We worked over the course of the next weeks to figure out how to give her medicines, work with feeding issues, and follow up with various doctors. We had our post op visit with Dr. Kanter. Her scars were healing well, we reduced her lasix to 2x per day, and he noted that she had lost weight since being discharged from the hospital. He asked me to pump and bottle feed her over the next week until our follow up appointment with the cardiologist so we could track her inputs. At that next appointment, and all future doctor appointments over the following weeks, Alli remained 5.6 kilos.
Push came to shove with Alli's weight gain January 16. We worked over the weekend to track her feeding, based on directions from her pediatrician. I sent Jason back to Jacksonville Monday morning, the same location he was one year ago when I learned Alli had heart defects and likely had Down Syndrome. I took Alli to the pediatrician to be weighed. Again, 5.6 kilos. W were about to leave the office with a GI referral when I asked the pediatrician to listen to Alli's heart. She seemed to be breathing hard and fast and wanted to make sure everything was ok. He listened to her breathing and recommended that I take her to the emergency room. He would call ahead and let them know we were on the way. Her respiratory rate was 2x her baseline. I had to call Jason again with bad news and tell him that we were heading to the hospital.
Alli was admitted to Egleston that afternoon as failure to thrive. Her chest xray on admission showed fluid on her right lung and her ECHO showed moderate leakage out of her mitral and tricuspid valves. She only had mild leakage following her surgery. They put her on lasix and lisinopril to remove the fluid and help to control her blood pressure. They also talked to us about potentially dropping an ng tube if she didn't start to gain weight over the next day or so. Since she was going to be in the hospital we decided to have a few other issues checked out.
Alli was not able to gain weight and they dropped an ng tube on Wednesday. I was heartbroken. My little champion eater had run out of gas and just wasn't able to consume the calories she needed each day to gain weight. Plus, I was scared to death of having to drop the tube. So, in true Megan fashion, I rejected the tube and ignored the baby dummy they left in Alli's room for me to practice inserting the tube. Alli had a swallow study done which showed that she aspirated on thin liquids. Excellent, we would put her on thickened feeds, get her to eat, and pull the tube out. Not exactly. We were able to get Alli to take more by mouth with the thickened feeds, but not enough for her to meet her total calories for the day. We would have to use the tube for a bolus.
We also had Alli's eyes checked by a neurologist and opthomologist. Both recommended an EEG due to saccatic eye movements. Her EEG showed that the hypsarrhythmia was gone (huge celebration for Megan!) but she had some occipital spikes. They wanted an MRI to look at her brain and orbits to see if there is something structural causing both the occipital spikes and the eye movements. The cardiologists wanted to tack on an MRI of her chest to be able to determine the extent of the stenosis in her branch pulmonary arteries. I took her down for the MRI on Thursday morning.. The sedation team refused to sedate her for the MRI given the fluid on her lung and her pulmonary hypertension. We were sent back upstairs to her room.
The next day Alli had a lung perfusion test. The test uses a radioactive isotope to determine the distribution of blood to the lungs. The results of the lung perfusion showed that she has a 70/30 distribution of blood to her lungs. This means that 70% is going to the right lung and 30% is going to the left lung. The doctors explained that there normally is some variation due to the fact that the right lung is larger than the left lung.
We stayed through the weekend in hopes of being able to have the MRI done on Tuesday morning under cardiac anesthesia. In the process of anesthetizing Alli Tuesday morning she became hypotensive and had to be taken to the ICU. Therefore we weren't able to get the MRI.
We were sent home the next day with our feeding pump and a schedule of follow up visits including a new date for the MRI.
All went well our first day at home. Alli slept off her hospital stay. The next day we noticed that she started to projectile vomit with her feeds. We monitored her throughout the weekend and adjusted the rate at which we were feeding her through the feeding tube to try to control the vomiting. That Tuesday, as I was getting her ready for bed, I noticed that she started to have jerks again. I mentioned it to Jason and we agreed to monitor the situation and call the doctor if we saw it again. The next night we both witnessed a series of jerks again at bedtime. I called the neurologist Thursday morning to report about both the jerks and the vomiting. On Friday the neurologist called back and suggested that we take her back in to the emergency room for an EEG. They admitted us back at Egleston that night and Alli had her EEG at midnight. The neurologist was reading her EEG as it was being administered and saw that the hypsarrhythmia had returned. They started her on prednisolone and topamax and kept her through the weekend for observation. She initially seemed to respond very favorably to both medications. We right away saw her spasms diminish from happening in a series to happening one at a time. We were sent home that Monday hopeful that we had again caught the seizures early enough and would be able to avoid the more aggressive forms of treatment for infantile spasms.
On Wednesday, after being discharged, we noticed Alli's jerks come back more frequently and a recurrence of the projectile vomiting. After multiple rounds of phone calls between the neurologist and the cardiologist (it took our cardiologist getting involved to get the neurologist to call us back) we were advised to increase Alli's dose of prednisolone to 40mg per day. We saw an initial improvement in her seizure activity with the increased dose and the projectile vomiting seemed to be put at bay. We also followed up with a GI specialist to help us monitor Alli from a nutrition standpoint and assist us with the ng tube. Our visit with the GI specialist was especially productive. We developed a plan to address Alli's feeding issues and he was able to get us in with a prominent neurologist.
We have also been addressing Alli's therapy needs. She has had evaluations by physical therapy, occupational therapy, and speech therapy. Her most recent physical therapy assessment put her in the 9th percentile. She was not able to score at all on the occupational therapy assessment as they were not able to determine what she is processing visually. She passed her speech (feeding) assessment with flying colors. They suggested a new type of bottle and let us move forward with starting solid foods. Since then Alli has enjoyed sweet potatoes, plain yogurt, mango, and avocado. This weekend we are going to try some squash and maybe some egg yolk...yum!! With all of her new food and formula (I had to stop breastfeeding once we went to the ng tube) Alli now weighs 14 lbs (6.35 kilos)!
So, here we are. It is Friday, February 24 and it has taken me 10 days to write this entry. As of today, Alli is still having infantile spasms and her most recent EEG still shows hypsarrhythmia. Tomorrow we will start to wean her off of the prednisolone and will start her on Vigabatrin. Vigabatrin is another drug used to treat infantile spasms. It's main side effect is that it can cause retinal toxicity and irreversible constriction of her visual field (tunnel vision). She will be monitored by an opthamologist throughout her treatment and if they begin to notice visual impairment, then we will have to stop this course of treatment.
Her most recent echocardiagram on Tuesday shows mild-moderate regurgitation out of her mitral and tricuspid valves and continues to show stenosis in her branch pulmonary arteries. As her cardiologist said, her arteries are definitely narrow, but they are sufficient for now. We are hopeful that they will grow.
My goal is to use this blog to help update everyone on Alli's status. The entries will not be this long in the future, but I figured I would put everything out there for those that are interested and those that aren't can skip ahead to the shorter entries.
They admitted us that Sunday evening and scheduled an EEG for Monday. Children who have infantile spasms have a specific pattern in their EEG known as hypsarrhythmia. You either have it or you don't. As it turned out, Alli had it, and we were able to begin treatment. The common treatments for infantile spasms include high dose prednisolone, ACTH, and vigabatrin. Given Alli's heart condition, the decision was made to try prednisolone as the first course of treatment. In the meantime, the hospital called for a cardiology consultation, as they had noticed Alli's oxygen saturations dipping in to the 60's. The on-call cardiologist, Dr. Samai, had an ECHO done and immediately had us transferred from Scottish Rite to Egleston by ambulance (thankfully, no lights and sirens). Given Alli's desaturations he felt that her surgical repair was imminent and wanted her to be monitored at Egleston until her surgeon, Dr. Kanter, returned from vacation the following week.
We arrived at Egleston and were greeted by our nurse, Gillian. She would become Alli's favorite nurse over the course of the week and took excellent care of Jason and me, as well. Her soothing British accent seemed to put Alli right at ease and she had a remarkable way of working with Jason and I to help alleviate her oxygen desaturations without resorting to morphine or other measures. She gave us our space, but I sensed was always keeping a watchful eye on the situation, knowing when intervention was truly necessary. By the time Dr. Kanter returned, Alli's desaturations were going in to the 40s and 50s. What was remarkable was that her desaturations, "tet spells," were often without the inconsolable crying we had been told to look for.
Alli's surgical repair was a success and according to Dr. Kanter "didn't happen a second too soon." He noted that she had an absent thymus - something they would have removed during surgery - and sent off some samples to ensure there were no other genetic abnormalities (specifically looking for DiGeorge Syndrome - common in patients with tetralogy of fallot and absent thymus). Her test results came back showing Down Syndrome as her only genetic abnormality (huge sigh of relief for Megan!).
Alli was discharged 8 days after surgery. We worked over the course of the next weeks to figure out how to give her medicines, work with feeding issues, and follow up with various doctors. We had our post op visit with Dr. Kanter. Her scars were healing well, we reduced her lasix to 2x per day, and he noted that she had lost weight since being discharged from the hospital. He asked me to pump and bottle feed her over the next week until our follow up appointment with the cardiologist so we could track her inputs. At that next appointment, and all future doctor appointments over the following weeks, Alli remained 5.6 kilos.
Push came to shove with Alli's weight gain January 16. We worked over the weekend to track her feeding, based on directions from her pediatrician. I sent Jason back to Jacksonville Monday morning, the same location he was one year ago when I learned Alli had heart defects and likely had Down Syndrome. I took Alli to the pediatrician to be weighed. Again, 5.6 kilos. W were about to leave the office with a GI referral when I asked the pediatrician to listen to Alli's heart. She seemed to be breathing hard and fast and wanted to make sure everything was ok. He listened to her breathing and recommended that I take her to the emergency room. He would call ahead and let them know we were on the way. Her respiratory rate was 2x her baseline. I had to call Jason again with bad news and tell him that we were heading to the hospital.
Alli was admitted to Egleston that afternoon as failure to thrive. Her chest xray on admission showed fluid on her right lung and her ECHO showed moderate leakage out of her mitral and tricuspid valves. She only had mild leakage following her surgery. They put her on lasix and lisinopril to remove the fluid and help to control her blood pressure. They also talked to us about potentially dropping an ng tube if she didn't start to gain weight over the next day or so. Since she was going to be in the hospital we decided to have a few other issues checked out.
Alli was not able to gain weight and they dropped an ng tube on Wednesday. I was heartbroken. My little champion eater had run out of gas and just wasn't able to consume the calories she needed each day to gain weight. Plus, I was scared to death of having to drop the tube. So, in true Megan fashion, I rejected the tube and ignored the baby dummy they left in Alli's room for me to practice inserting the tube. Alli had a swallow study done which showed that she aspirated on thin liquids. Excellent, we would put her on thickened feeds, get her to eat, and pull the tube out. Not exactly. We were able to get Alli to take more by mouth with the thickened feeds, but not enough for her to meet her total calories for the day. We would have to use the tube for a bolus.
We also had Alli's eyes checked by a neurologist and opthomologist. Both recommended an EEG due to saccatic eye movements. Her EEG showed that the hypsarrhythmia was gone (huge celebration for Megan!) but she had some occipital spikes. They wanted an MRI to look at her brain and orbits to see if there is something structural causing both the occipital spikes and the eye movements. The cardiologists wanted to tack on an MRI of her chest to be able to determine the extent of the stenosis in her branch pulmonary arteries. I took her down for the MRI on Thursday morning.. The sedation team refused to sedate her for the MRI given the fluid on her lung and her pulmonary hypertension. We were sent back upstairs to her room.
The next day Alli had a lung perfusion test. The test uses a radioactive isotope to determine the distribution of blood to the lungs. The results of the lung perfusion showed that she has a 70/30 distribution of blood to her lungs. This means that 70% is going to the right lung and 30% is going to the left lung. The doctors explained that there normally is some variation due to the fact that the right lung is larger than the left lung.
We stayed through the weekend in hopes of being able to have the MRI done on Tuesday morning under cardiac anesthesia. In the process of anesthetizing Alli Tuesday morning she became hypotensive and had to be taken to the ICU. Therefore we weren't able to get the MRI.
We were sent home the next day with our feeding pump and a schedule of follow up visits including a new date for the MRI.
All went well our first day at home. Alli slept off her hospital stay. The next day we noticed that she started to projectile vomit with her feeds. We monitored her throughout the weekend and adjusted the rate at which we were feeding her through the feeding tube to try to control the vomiting. That Tuesday, as I was getting her ready for bed, I noticed that she started to have jerks again. I mentioned it to Jason and we agreed to monitor the situation and call the doctor if we saw it again. The next night we both witnessed a series of jerks again at bedtime. I called the neurologist Thursday morning to report about both the jerks and the vomiting. On Friday the neurologist called back and suggested that we take her back in to the emergency room for an EEG. They admitted us back at Egleston that night and Alli had her EEG at midnight. The neurologist was reading her EEG as it was being administered and saw that the hypsarrhythmia had returned. They started her on prednisolone and topamax and kept her through the weekend for observation. She initially seemed to respond very favorably to both medications. We right away saw her spasms diminish from happening in a series to happening one at a time. We were sent home that Monday hopeful that we had again caught the seizures early enough and would be able to avoid the more aggressive forms of treatment for infantile spasms.
On Wednesday, after being discharged, we noticed Alli's jerks come back more frequently and a recurrence of the projectile vomiting. After multiple rounds of phone calls between the neurologist and the cardiologist (it took our cardiologist getting involved to get the neurologist to call us back) we were advised to increase Alli's dose of prednisolone to 40mg per day. We saw an initial improvement in her seizure activity with the increased dose and the projectile vomiting seemed to be put at bay. We also followed up with a GI specialist to help us monitor Alli from a nutrition standpoint and assist us with the ng tube. Our visit with the GI specialist was especially productive. We developed a plan to address Alli's feeding issues and he was able to get us in with a prominent neurologist.
We have also been addressing Alli's therapy needs. She has had evaluations by physical therapy, occupational therapy, and speech therapy. Her most recent physical therapy assessment put her in the 9th percentile. She was not able to score at all on the occupational therapy assessment as they were not able to determine what she is processing visually. She passed her speech (feeding) assessment with flying colors. They suggested a new type of bottle and let us move forward with starting solid foods. Since then Alli has enjoyed sweet potatoes, plain yogurt, mango, and avocado. This weekend we are going to try some squash and maybe some egg yolk...yum!! With all of her new food and formula (I had to stop breastfeeding once we went to the ng tube) Alli now weighs 14 lbs (6.35 kilos)!
So, here we are. It is Friday, February 24 and it has taken me 10 days to write this entry. As of today, Alli is still having infantile spasms and her most recent EEG still shows hypsarrhythmia. Tomorrow we will start to wean her off of the prednisolone and will start her on Vigabatrin. Vigabatrin is another drug used to treat infantile spasms. It's main side effect is that it can cause retinal toxicity and irreversible constriction of her visual field (tunnel vision). She will be monitored by an opthamologist throughout her treatment and if they begin to notice visual impairment, then we will have to stop this course of treatment.
Her most recent echocardiagram on Tuesday shows mild-moderate regurgitation out of her mitral and tricuspid valves and continues to show stenosis in her branch pulmonary arteries. As her cardiologist said, her arteries are definitely narrow, but they are sufficient for now. We are hopeful that they will grow.
My goal is to use this blog to help update everyone on Alli's status. The entries will not be this long in the future, but I figured I would put everything out there for those that are interested and those that aren't can skip ahead to the shorter entries.
You are the angel in action, Megan. What an absolutely incredible mother you are in every sense! I am humbled by the love and grace you have demonstrated through your words and, more importantly, your actions. I will continue to think of and pray for you and your family often. I know that God will continue to grant you the strength to be a zealous advocate for Alli and help keep her safe. I also hope that you receive a sufficient measure of peace to sustain you. I promise to do my best to make you laugh from time to time. Hugs to you, my dear friend.
ReplyDeleteDear Megan and Jason,
ReplyDeleteWhat amazing parents you both are! God gave you your precious little girl because he knew you would know how to take care of her.
Alie and Samantha are so lucky to have so many "extended family members" sending love, prayers, and positive thoughts your way.
xoxo Linda Bernabo
Megan & Jason, you are amazing parents!!! Since we can't be there to help in person, please know that we're saying lots of prayers and thinking positive thoughts for Alli and all of you. Sounds like she's quite the fighter! Love you....Deb, Mike, Sean & Erin
ReplyDelete