The Journey of a Mother with a Disabled Child
Our Mission to Save Jackson
Jackson's Start in Life
We were thrilled to hear that we were expecting. Our excitement was too much to keep a secret. We immediately informed our families of our happy news so we could all celebrate and start the journey together......
The pregnancy started out fine! At 19 weeks, one of the routine test results showed my baby could be at risk for Trisomy 18 (a chromosomal abnormality that often results in stillbirth). So my doctor scheduled an amniocentesis. To say the least, we were devastated and scared. The results came back in our favor, it showed no sign of Trisomy 18 and it confirmed that we were having a baby BOY!
At 24 weeks, I had a routine ultrasound where they discovered I had a notched uterine artery and a 2 vessel cord (in other words, my baby was not getting enough blood or nutrients). We were referred to St. Peters Hospital for further ultrasounds. It was confirmed that my pregnancy was considered high risk and that they had to monitor the growth of my baby very closely. At 30 weeks I was admitted into the hospital as my baby boy was not growing. We were terrified! The doctors told us that it was a very good possibility that our baby would need to be born early and be monitored in the NICU. The hospital staff were amazing, they helped me through one of the most difficult times of my life.
After being in the hospital for 2 weeks, we were informed that our baby boy had not grown enough and needed to be born via c-section. I clearly remember being excited and nervous as I looked over at my husband, who was bawling and trying to contact our family. They quickly got me ready for surgery and introduced us to the staff that would be taking our baby boy to the NICU.
I remember everything like it was yesterday. I can still smell the burning flesh as they opened me up, all of the tugging and the doctor's telling my baby to let go of the cord.
The nurses brought my baby, Jackson, to me so I could meet him for the first time and they quickly whisked him away to the NICU with my husband in tow. After that, I was knocked out and remember waking up in recovery but being so groggy. I was wheeled, in my bed, to the NICU to see Jackson. Seeing him attached to all of the machines and nurses rushing around was a scary sight, they try to prepare you for it but I still thank God that I was mostly out of it. We received the results from the placenta testing and it was discovered that 33% of my placenta was clotted. I was lucky I didn't go into labor because it could have killed me and my baby. However, it did explain why I had a blood clot in my calf after the surgery.
My Baby Boy, Jackson, was born weighing 2lbs 9oz and a whopping 15 3/4 inches long.
Jackson through the Years
Jackson was in the NICU for 50 days, he was scheduled to come home on Christmas Eve, but they decided to do a blood transfusion so he had to stay in the hospital. Jackson had an issue with gaining weight, keeping his oxygen level up and an MRI showed he had a thin corpus colostrum. Jackson battled through everything that was thrown at him and was able to come home on Christmas Day, The BEST GIFT EVER!
Over the next several months/years Jackson struggled to gain weight due to severe reflux and he was not meeting his milestones. Everyone would say, "he's a preemie, so it's going to take time for him to catch up." The reflux was a true struggle. He could not keep anything down and his pediatrician had us thickening his liquids so much, he would aspirate. I was so afraid to drive anywhere with him alone. On several occasions he would aspirate and I would have to pull over and suction him so he could breathe. We finally took him to a GI Dr who was able to help get things under control a little.
In September, at 10 months old, I enrolled Jackson in daycare. He started on a Tuesday and by Friday he was hospitalized for RSV. (Let's say he never returned to daycare) He was in the hospital for 5 days and then home for 5 days, but he wasn't himself. He had a low grade fever everyday and his pediatrician did not want to see him. We brought him to a new pediatrician who checked his oxygen level. They admitted him immediately and he remained in the hospital for an additional 14 days with pneumonia. While in Lehigh Valley hospital, they performed additional tests. The cystic fibrosis test came back negative but he was diagnosed with asthma. He was assigned a pulmonologist who sent us home with a preventative asthma action plan and changed his reflux medication to omeprazole. This made a HUGE difference for Jackson.
Jackson did well for the rest of his first year. He qualified for early intervention, a service that came to our home and worked with our son 3 times a week. They provided Occupational therapy and physical therapy, helping to build his muscle tone and teaching him simple things like rolling over, sitting up with assistance, basic motor skills, and hand/eye coordination.
When Jackson was 1.5 years old, we noticed he was still struggling to meet his milestones. We consulted with the pediatrician who recommended a consult with a neurologist. The neurologist suggested getting some blood work done to see if there were any underlying issues. The blood work took a couple weeks and revealed that Jackson had a very rare chromosome disorder that didn't even have a name and that the doctor had never heard of it before. He had no further recommendation for us, except to see a geneticist at Children's Hospital of Philadelphia. We were crushed and confused, and faced with no choice but to make an appointment to meet with a geneticist at CHOP. It took two excruciating months of waiting to finally get in to see him.
On August 2, 2010, Jackson was diagnosed with MECP2 Duplication Syndrome, a very rare chromosome disorder. The disorder was caused by a translocation, he also had a chromosomal deletion. This putting Jackson in an exclusive group of boys, one of only 5 known cases in the world. The kicker was that those 5 boys were all related. So what did this mean for our little boy? The genetics expert cautioned us not to try and look online for more answers, because there was not enough research information published that could help us. He suggested allowing Jackson to live a full life, taking each day as it comes. When I left that appointment, I think I was in shock and really confused as I really didn't have any answers to my questions. For the first time EVER, I listened to the doctor and decided not to look it up online, I was going to let Jackson determine the outcome of his own life. I told his therapists and his specialists the results of the genetic test and they did their own research. My family would research it but they really wouldn't tell me about what they found. I think they were protecting me and they knew I didn't want to hear anything negative. I only wanted to stay positive and enjoy Jackson.
On April 23, 2011, Jackson had a lot of appointments scheduled. The morning started off with an Early Intervention evaluation. After everyone had left, I was feeding Jackson breakfast and he did something weird. Suddenly his eyes were blank, his breathing got quiet, and his hand was tapping. This might not have been something to be concerned about, but Jackson was a loud breather, so for him to go silent, I thought he was choking. By the time I confirmed he wasn't choking, he was fine and back to normal. After breakfast we headed off to our 2nd appointment. When we got there I went to get him out of the car and it happened again. I couldn't get him to focus on me and it really scared me. After his afternoon nap, when I was changing his diaper to get him ready for the next appointment, IT HAPPENED AGAIN!!! I started to panic because I didn't know what was happening. I wondered, "could it be a seizure? No way!"
While I was feeding him dinner, I was telling his therapist what had happened throughout the day. Before I knew it, his therapist said, "is that it?" I turned around and it was happening again!!! That was it, my husband and I packed up our things and headed to the ER. Of course it didn't happen when we were there, but they spoke with neurology and decided to put him on a low dose of Keppra and make an appointment for an EEG. The EEG showed no signs of a seizure, so when we met with the Neurologist she said she wanted to keep him on the Keppra and that what I described sounded like a typical absence seizure.
My family who researched the disorder, told me that seizures are a symptom of MECP2 Duplication Syndrome. At that point I decided I needed to put on my big girl pants and look up this disorder. The first place I visited was MECP2 Duplication Family Talk on Facebook. I worked up the nerve to join the group and I remember OBSESSING about it. I couldn't stop reading the posts and crying and panicking. THIS WAS SO SCARY! I saw GI issues, ok, I can handle that. Development and cognitive delays, ok, I can handle that. Absent speech, ok, that's going to be hard to not hear my son tell me he loves me, but I can handle that. Seizures that may not be controlled with medication, oh boy, this is getting serious! Can I handle that? Severe respiratory infections that can result in death, I CAN'T HANDLE THAT! I remember thinking, OH MY GOD, MY BABY BOY IS GOING TO DIE! I mean, how do you deal with this information?
There's only one way. Pray, Cry and Love unconditionally! Take life minute by minute, hour by hour, day by day.
In June 2011, Jackson had to get his tonsils and adenoids removed. Because he was young and very little we had to go to CHOP to get it done. The doctor came out and said that the surgery went really well and that he was in recovery. When I got to Jackson's room he was freaking out. Blood was coming out of his nose and he couldn't calm down. The nurses rushed me into the room and threw him into my arms. They gave him morphine and then he finally calmed down. Little did I know that morphine hinders the respiratory system, but I found that out quickly when later that night, Jackson's O2 level kept dropping and he was put on nasal oxygen. He was then admitted in the pediatric ICU for a viral respiratory infection. I knew from experience, this meant we would be there for a while. We were in the hospital for five days. On day two, I refused the morphine and would only allow tylenol and advil as pain killers because Jackson couldn't wake up to eat, drink, or even move around to move the "junk" in his lungs. Once we took him off morphine, he started to do better.
After that nightmare, Jackson did well for the rest of the summer. He LOVED going to the beach and hanging out in the water for hours. He was progressing slowly but doing really well. He was ALWAYS happy! If he cried, then something was really wrong. His personality would draw people in and they would fall in love with him immediately.
In the fall of 2011 Early Intervention ended and Jackson was going to be attending pre-school for children with disabilities. This was an exciting time for us, as Jackson would be able to socialize with his peers. We also enrolled him in Equine therapy in order to help him build his core strength and help with our efforts to get him to walk.
2012 - 2013
For the next 2 years Jackson did really well in all aspects. He was progressing developmentally. He was pulling to stand and cruising all over the place. He was very vocal, babbling a lot and saying, "Mom and Dad", which was music to our ears. He was doing well with school and therapy and he loved his equine therapy horse, Rex.
Jackson was 15 months seizure free and on a low dose of Keppra. He still had tons of appointments every 4-6 months but they were just to monitor everything. He was followed by a team of doctors: cardiologist, neurologist, gastroenterologist, nutritionist, pulmonologist, ophthalmologist, developmental pediatrician, dentist, endocrinologist and his general pediatrician. And in addition, let's not forget about all of the therapists he would see every week. Jackson would never complain about anything, he was always the "go with the flow" kid.
He is the perfect child, in every way, in Jackson's way.
I have heard horrible stories about in home nursing care and I was terrified to bring someone I didn't know into my home and be with my son. Luckily I worked from home, so when Jackson's pulmonologist recommended a nurse and I agreed. I like to say that we were blessed from the first day the nurse walked into our home. Jackson's nurse is not like any other nurse I have heard about. She quickly assessed Jackson's abilities and researched different therapies to use to get him stronger and focused. She created a daily routine which included tummy time, sit ups, walking, reading time and so much more. Jackson's nurse is so patient with him and never gives into his heart melting smile. She pulls out the best in Jackson and makes him work to the best of his ability. He loved how independent he was becoming.
This year started out with a bang, Jackson was walking independently and loving it! He was all over the place, he would do laps in the house. He loved to babble and he was saying "Mom" all the time. Jackson was mostly healthy with a couple of colds and sinus infections, but nothing that put him in a hospital. We were able to take Jackson to the zoo, the beach and to Disney. He was such a joy to be around!
Another great thing happened in spring 2014, when we made the decision to get a dog. We wanted Jackson to grow up with a best friend, and we couldn't have picked a better dog for our family. Remus came to us at 6 months old, and he was very timid and shy. He quickly took to my husband, but he wasn't too sure of Jackson. After a week, that was all over. Remus is a fun puppy who loves to play, but when it comes to Jackson he will lay there and let Jackson pull on his ears, fur, and tail all day long.
In late September 2014, after a little over 2 years seizure free, Jackson started having Atonic Seizures (Drop). We were completely devastated. Our nightmare had become our reality. We always knew his seizures could change and regression could occur, but we were hoping that Jackson was one of the rare ones that it wouldn't happen to.
Above pictures are the last photos where we got a smile from Jackson. This was mid October 2014
By the end of October, his Keppra dose was tripled, we had added depakote, and clonazepam was added as a rescue drug. Meanwhile, his neurologist was out on leave, so we were working with the back-up neurologist. She never wanted to see Jackson and had never met him. She just kept adding and increasing medications. I would call hysterically crying every week because nothing was helping and he was having 12-15 clusters a day. He was so out of it. My happy boy who smiled and laughed all the time was gone. He could barely eat or keep his head up due to the medications. I knew in my heart that something wasn't right, and in November I took him to Children's Hospital Of Philadelphia ER. The doctors listened to my concerns and agreed that he needed to be monitored and see a neurologist.
The first night in CHOP, Jackson spiked a fever. Now we had another issue to deal with. I immediately requested that we start breathing treatments and chest percussion. The doctors did not agree with what I was requesting as they said his lungs were clear. They just wanted to run blood work to see if there was an issue. I told them they needed to speak with his pulmonogist, who agreed to start him on breathing treatments and the vest. When the neurologist came in to look at Jackson, she was prepared with a paper describing depakote as a good medication for children with Rett Syndrome (which Jackson doesn't have). She was very direct and really wouldn't listen to what I was saying. I didn't push the issue as I wanted to get all my information before I met with her again. She recommended that we add clonazepam to take regularly twice a day instead of just as a rescue.
For the next 2 days, Jackson continued to spike fevers and having multiple seizures. He was extremely lethargic and would not eat, drink, or hold his head up. I continued to ask the doctors to do a chest X-ray and they continued to tell me that his lungs were clear and that it wasn't necessary. In the meantime, I requested to speak with the neurologist again as I still wanted him off of depakote and I had all of my information ready to present to her. The neurologist never came to meet with me and after having a breakdown, they finally got a neurologist to come and see us. Me and my husband begged and pleaded with her to start weaning him off Depakote. She listened to our concerns and the research we had presented her. She agreed that he needed to come off Depakote. I was relieved that battle was won, now I needed to focus on this fever Jackson was continuing to have. One night while Jackson was getting his breathing treatment, I asked the respiratory team to leave the pulse ox on him throughout the night. As I suspected, he would desaturate throughout the night. When the doctor's did their rounds in the morning, I demanded an x-ray be done. The results of the x-ray showed pneumonia, and IV antibiotics were started. After 24 hours on IV antibiotics he was able to transition to oral antibiotics and we were sent home. Nothing is more frustrating then when doctors don't listen to the parents. We would have been out of there much sooner if they would have listened to me. I know my son!
When we got home, Jackson started to improve. The pneumonia was clearing up and with the weaning off of Depakote, he was showing slight improvement with the seizures. He still wasn't back to his old self, so I was determined to seek additional help. I was referred to a pediatric epilologist at NYU Langone Center, the director of the Epilepsy Center. Dr. Devinsky and his assistant, Erin, were amazing. They really listened to my husband and I as we explained the past months issues and concerns. They felt that he was overmedicated and was happy to hear that we pushed to get him off of Depakote. They suggested a 48 hour EEG so they could determine the types of seizures he was having and come up with a seizure action plan.
As 2014 ended, we saw the toll that the medications and seizures had taken on Jackson. His beautiful smile, infectious laugh and sparkle in his eyes were gone. I refused to believe that this was the start of regression and I vowed to fight for his happiness!
I had pulled him out of school in October and refused to let him go back until insurance would approve his nurse to go with him. We were lucky to be able to continue therapy services at home three times a week until he was able to go back to school. We had to fight with the insurance company as they felt it was not a medical necessity. After several denials and grievances filed, it was finally approved and Jackson went back to school in January 2015 for his final year in Pre-K.
In February, Jackson had his 48 hour EEG in New York, we received the results on February 13th. Dr. Devinsky explained to us that Jackson has a seizure disorder called Lennox-Gastaut Syndrome, LGS. We discussed treatment plans and we decided to start with the modified atkins diet as I felt that would be the less evasive option. We attempted the diet three times and each time Jackson got very ill. The modified atkins diet is a high fat, high protein diet and 10g or less carbs. Every time we would get his diet down to 10g of carbs he would have constipation issues, start vomiting and refuse to eat or drink. Also due to the high intake of fat his reflux would get really bad. We had to increase his reflux medication from 2.5mls twice a day to 20mg tablets twice a day. Jackson also has slow motility in his gut, which means that food does not breakdown easily and move to the intestines. When you have a high fat diet it is even harder for food to breakdown and it will cause a bacterial infection, which makes you ill. Since this was no longer an option for Jackson, we had to seek other alternatives.
We reached out to the specialists at Texas Children's Hospital, Houston, Tx, to get second opinions. The doctors there specialize in MECP2 Duplication Syndrome and we were hoping to get feedback as to what our next course of action should be.
In March we made our way to Houston, Tx to meet with the pediatric gastroenterologist and pediatric neurologist. When we left the appointment we were very discouraged with the news that we heard. We were told that Jackson's seizure disorder was worse than what he has seen in the MECP2 boys and that we needed to focus solely on stopping them. My husband and I agree that the seizures need to be controlled but we were not willing to add more medication to do that. We chose to go with another option.
I discussed the option of using a hemp oil supplement with the doctors in New York and they agreed that it was a viable option for Jackson and they said that some other patients were using it with positive results. I started doing my research on hemp oil and if it is helpful for LGS patients and the results were encouraging. I found an amazing website, Realm of Caring, and registered in their client portal. This website gives you access to forums and tons of information regarding medical marijuana treatments and laws.
In June we started administering the hemp oil to Jackson. We started out at the lowest dose for a couple weeks. We happy with what we were seeing. His seizures went from and average of 50 times a day to an average of 10 times a day. Now I call that an improvement. Jackson will have some days where he is more tired and we will see more drops that day but still nothing compared to what is was. We even have some days with ZERO seizures YAY! We are continuing to work with the doctors in New York and they have been willing to lower his clonazepam medication and increase the hemp oil. I am so lucky to have found a doctor that is willing to assist us in alternative treatments.
We continue to hope that Pennsylvania will pass the SB 3 before we lose more of Jackson. I believe it is our only hope to get Jackson off all his medications and get our happy boy back.
People always say, "I don't know how you do it" or "I couldn't handle what you go through". I never know how to respond to those statements, but what I have learned through this journey is that love knows NO boundaries. Jackson has taught me so much about life, strength, love and what being brave really means. I am so lucky to have him and I will fight until I die to keep him here, on earth, with me.
As we started to ween Jackson from Clonazepam we started seeing more of Jackson coming back. He started clapping, smiling and he had more energy. It was amazing to see the difference. We felt we were really seeing an improvement and we were excited to see what Jackson was going to be able to accomplish. In August, we took Jackson to Disney again. Of course Florida is very hot in August so we needed to be very careful with Jackson as he can get overheated.
Jackson started Kindergarten and he LOVED it. He met new friends and new teachers, who quickly learned of Jackson's Mickey Mouse obsession. He started to thrive, he was learning colors and his ABC's, he was impressing us all.
By the end of the year, Jackson was becoming more tired again. Everything seemed fine, no fever, no congestion, just tired. Some days would be better then others, but overall he was more tired. That's whats so difficult with having a child that is non verbal, it's process of elimination.
Being Updated Soon