Nathan's Battle with Menkes
Donation protected
Here is Nathan's story as told by Kati and Aaron.
"At 37 weeks, my beautiful healthy baby decided to make his entrance into this world. He was perfect in every way possible, to include all of his newborn assessments and evaluations. Aside from a little difficulty learning to breastfeed, he was doing everything a newborn baby was supposed to.
At six weeks, Nathan began having absence seizures. At the time, we weren't sure what they were, but by the time the second and third presented themselves, we packed him up and took him to the ER. This is where our nightmare began. When we arrived, there was little that could be done so we were transported to Eastern Maine Medical Center by ambulance for a weeks admission where Nathan would undergo test after test after test. Fortunately and unfortunately, Nathan had another seizure while we were admitted. We were released with little information except that we would need to begin seeing a Pediatric Neurologist in Portland.
The weeks that followed were filled with MRI's, EEG's, blood work, catheter's for urine screens, genetic appointments, neurology appointments, physical therapy, occupational therapy (with his favorite occupational therapist-Hilary), hearing tests, optical exams, long nights and many tears. He began regressing developmentally and stopped bearing weight on his legs all together. He stopped lifting himself up for tummy time, he stopped holding his head up, he began smiling less and less.
On Nathan's six-month "birthday", he began these bizarre clusters of movements that I can only characterize by saying they looked like self bear hugs. He would bend at the waist, wrap his arms out around himself, take odd breaths, and his eyes would roll. We knew something wasn't right, but of course it was a Saturday. He did this probably 35 times in the course of a few minutes, but after he stopped, we figured we would call on Monday because it almost looked like reflux. However, he had other plans. On Sunday he began doing this again, and in the middle of a blizzard, Aaron was packing to go to work for the week, and we took a video and reached out via text to Nathan's favorite PCP. Jackie immediately responded with a phone call demanding I call the on-call neurologist.
While Daddy plowed the North Maine Woods, Mommy was on the phone with Nathan's neurologists. This is when our nightmare got worse. The neurologist told me to look up "Infantile Spasms", and bring him down immediately. Unfortunately, we were stuck in the middle of a blizzard and Aaron was hours away by now, unreachable by phone. He plowed all night long, drove straight home, and then drove us straight to Portland. We visited with Nathan's Epileptologist, Dr. Peter Morrison (who is such a kind and thoughtful man. It takes a special kind of person to work in pediatrics, but particularly with children with neurologic issues). An EEG of Nathan's brain activity showed what we feared; Hypsarrythmia. The Hypsarrythmia confirmed the diagnosis of Infantile Spasms--But why did our perfectly beautiful and healthy baby have this horrific eplileptic disorder?
More blood tests followed, medications began, and Nathan was put on steroids, vitamins, medications to prevent ulcers, and others. As the medical bills were piling up, our only option was to continue testing to find out why. I began petitioning our insurance company and our doctors to submit a prior authorization for a whole exome sequencing panel. This is a $10,000 blood test that would tell us what was wrong with our son--If a genetic abnormality was to blame. The steroids made him miserable. He cried 20 out of 24 hours of the day. He rarely slept, he was in pain, he wouldn't eat and I began having to feed him with a syringe just so he would be hydrated enough to not have to be admitted and given an IV for fluids. He was so constipated that little rocks were coming out of his body every few days. He stopped taking solids. He never smiled.
Eight weeks later he was weaned from the steroids, the spasms had stopped, and the hypsarrythmia was gone. YAY! His EEG still wasn't normal, we still didn't have an answer, but our baby was better. We put him on maintenance meds for his epilepsy and began aggressively working with his favorite physical therapist, Pam, in Bangor, and setting up services at home to care for our son. We have a wonderful nurse, Janelle, who started coming into our home once a week when Nathan was put on steroids to check his vitals, his urine, and to see how I was managing. She really became my therapist and my sounding board. We now have CDS, LeeAnne, who comes to our house to help me keep everything straight and get services for us. Life was getting back on track. Nathan was standing again, sitting, and holding his head--Even though it wasn't consistent, it was progress.
Then on Nathan's nine-month "birthday" the spasms returned. We were crushed. To say we were devastated was an understatement. It was the worst day of our lives. The wind was taken from our sails, our hearts were broken, and our hope was shattered.
Unfortunately, the recurrence of IS is rare, and it is much more difficult to stop the second time, and steroids are not a favorable option because eventually it can begin to melt his bones among many many many other problems. We tried a medication that's major side effect was vision loss. We were horrified. How could we risk our son's vision to eliminate his spasms? But what other option did we have?
After four weeks, the Sabril wasn't working. He was still having spasms. I called our neurologist and his Nurse, Jean (who has also been a gift from god), and pleaded to put Nathan back on steroids, I also requested a referral to Boston Children's Hospital. Four day's later Nathan was on Prednisolone and we were driving to Boston on a Sunday night, after Aaron had worked 15 hours that day. He drove the whole way. Monday morning we walked into Dr. Bergin's office. She is a wonderful pediatric epileptologist whose accent sounds Irish to me. She was brilliant, and kind, and so considerate of our situation.
After Nathan's initial evaluation, Dr. Bergin asked about his course hair and crazy eyebrows. (We always joked about it, but we had never considered it a symptom of anything.) She mentioned that she has treated one patient in her career who carried a gene, the ATP7A defect, called Menkes Disease. It sounded harmless enough. She said that if it was Menkes, his hair would be spindly and it would be evident through a microscope. She also said he would be copper deficient and a simple blood test would reveal the answer within a few days. Aaron and I looked at each other almost as if to say, "Perfect! We give him copper and he will be okay!" Within moments, our joy turned to fear, when she mentioned that Menkes also included a timeline--where the end result would ultimately be death. She was very kind and asked for a blood test and told us it could also be nothing, but that we should wait a few days for the results.
We brought Nathan to the lab, where he would be stuck for the hundredth time for a test that would hopefully not have the answer to our question. We drove home in silence for most of the ride, until Nathan wanted to get out of his seat and play. We took him out and for the first time ever he laughed, smiled and played for over an hour.
Tuesday, we were FINALLY approved by our insurance company to have the Whole Exome Sequencing panel. The test that would hopefully tell us what was wrong with Nathan. We drove to Bangor, went to Nathan's physical therapy appointment with Pam, went to lunch, and went to meet with Dr. Rieley, Nathan's Geneticist, for labwork. We were occupied for most of the day, but we never heard about Nathan's results.
Wednesday, Aaron went to work, I went to work, and Judy (Nathan's Memere) babysat. At 12:35 I received the call I was dreading. "Mrs. Pelletier, this is Dr. Bergin. Nathan's results came back, and unfortunately they are consistent with Menkes. I'm so sorry."
I hung up the phone, returned to my desk, looked around me and couldn't handle being where I was in that moment. I grabbed my keys and drove over an hour and a half straight to Telos to find Aaron. Upon arriving, I was greeted by many people who couldn't understand why I was there on a Wednesday, what I was doing, or what was wrong.
The rest of this story lies in the hands of God.
Many children live a few years, with medical intervention; while many don't live past a year. We are horrified, we are devastated, and our hearts are in pieces. If I could explain what it's like to know you are going to lose your first born child, I wouldn't, because I would never want anyone to feel how we feel. We know the inevitable. We know we will eventually lose our son. There is no cure. But there is treatment.
We will be going to see Dr. Stephen Kaler, the leading scientist in Menkes Research, he researches through the National Institute of Health in Bethesda, Maryland. We will be traveling the first or second week of September to begin the only known treatment for Menkes, which is an injectable copper therapy. That they will teach me how to inject twice a day. Unfortunately, we cannot begin sooner because there is currently no copper available.
I have barely been working through this whole ordeal for obvious reasons. The burden has fallen on my husband. With all of our travel (hotels, gas, & food), Nathan's medications, our co-pays, inpatient stays, ambulance travel--We are thousands of dollars in debt. We also know that the future holds. We know how expensive hospice is, we know how expensive funerals are, we know how expensive travel is, we know how expensive winter is, we also know how expensive our current medical expenses are. We are not asking you to donate for any other reason except that it will make the worst year(s) of our life somewhat free of financial stress.
Please share our story. Share what Menkes is. Please never let another family suffer the way our family is suffering.
With all of our love,
Nathan, Kati & Aaron Pelletier
**A FUNDRAISER IS BEING HELD FOR NATHAN IN OCTOBER--DETAILS WILL FOLLOW. Thank you for your generosity.
For more information about fundraising, please contact Hilary Arsenault through the contact information provided.
"At 37 weeks, my beautiful healthy baby decided to make his entrance into this world. He was perfect in every way possible, to include all of his newborn assessments and evaluations. Aside from a little difficulty learning to breastfeed, he was doing everything a newborn baby was supposed to.
At six weeks, Nathan began having absence seizures. At the time, we weren't sure what they were, but by the time the second and third presented themselves, we packed him up and took him to the ER. This is where our nightmare began. When we arrived, there was little that could be done so we were transported to Eastern Maine Medical Center by ambulance for a weeks admission where Nathan would undergo test after test after test. Fortunately and unfortunately, Nathan had another seizure while we were admitted. We were released with little information except that we would need to begin seeing a Pediatric Neurologist in Portland.
The weeks that followed were filled with MRI's, EEG's, blood work, catheter's for urine screens, genetic appointments, neurology appointments, physical therapy, occupational therapy (with his favorite occupational therapist-Hilary), hearing tests, optical exams, long nights and many tears. He began regressing developmentally and stopped bearing weight on his legs all together. He stopped lifting himself up for tummy time, he stopped holding his head up, he began smiling less and less.
On Nathan's six-month "birthday", he began these bizarre clusters of movements that I can only characterize by saying they looked like self bear hugs. He would bend at the waist, wrap his arms out around himself, take odd breaths, and his eyes would roll. We knew something wasn't right, but of course it was a Saturday. He did this probably 35 times in the course of a few minutes, but after he stopped, we figured we would call on Monday because it almost looked like reflux. However, he had other plans. On Sunday he began doing this again, and in the middle of a blizzard, Aaron was packing to go to work for the week, and we took a video and reached out via text to Nathan's favorite PCP. Jackie immediately responded with a phone call demanding I call the on-call neurologist.
While Daddy plowed the North Maine Woods, Mommy was on the phone with Nathan's neurologists. This is when our nightmare got worse. The neurologist told me to look up "Infantile Spasms", and bring him down immediately. Unfortunately, we were stuck in the middle of a blizzard and Aaron was hours away by now, unreachable by phone. He plowed all night long, drove straight home, and then drove us straight to Portland. We visited with Nathan's Epileptologist, Dr. Peter Morrison (who is such a kind and thoughtful man. It takes a special kind of person to work in pediatrics, but particularly with children with neurologic issues). An EEG of Nathan's brain activity showed what we feared; Hypsarrythmia. The Hypsarrythmia confirmed the diagnosis of Infantile Spasms--But why did our perfectly beautiful and healthy baby have this horrific eplileptic disorder?
More blood tests followed, medications began, and Nathan was put on steroids, vitamins, medications to prevent ulcers, and others. As the medical bills were piling up, our only option was to continue testing to find out why. I began petitioning our insurance company and our doctors to submit a prior authorization for a whole exome sequencing panel. This is a $10,000 blood test that would tell us what was wrong with our son--If a genetic abnormality was to blame. The steroids made him miserable. He cried 20 out of 24 hours of the day. He rarely slept, he was in pain, he wouldn't eat and I began having to feed him with a syringe just so he would be hydrated enough to not have to be admitted and given an IV for fluids. He was so constipated that little rocks were coming out of his body every few days. He stopped taking solids. He never smiled.
Eight weeks later he was weaned from the steroids, the spasms had stopped, and the hypsarrythmia was gone. YAY! His EEG still wasn't normal, we still didn't have an answer, but our baby was better. We put him on maintenance meds for his epilepsy and began aggressively working with his favorite physical therapist, Pam, in Bangor, and setting up services at home to care for our son. We have a wonderful nurse, Janelle, who started coming into our home once a week when Nathan was put on steroids to check his vitals, his urine, and to see how I was managing. She really became my therapist and my sounding board. We now have CDS, LeeAnne, who comes to our house to help me keep everything straight and get services for us. Life was getting back on track. Nathan was standing again, sitting, and holding his head--Even though it wasn't consistent, it was progress.
Then on Nathan's nine-month "birthday" the spasms returned. We were crushed. To say we were devastated was an understatement. It was the worst day of our lives. The wind was taken from our sails, our hearts were broken, and our hope was shattered.
Unfortunately, the recurrence of IS is rare, and it is much more difficult to stop the second time, and steroids are not a favorable option because eventually it can begin to melt his bones among many many many other problems. We tried a medication that's major side effect was vision loss. We were horrified. How could we risk our son's vision to eliminate his spasms? But what other option did we have?
After four weeks, the Sabril wasn't working. He was still having spasms. I called our neurologist and his Nurse, Jean (who has also been a gift from god), and pleaded to put Nathan back on steroids, I also requested a referral to Boston Children's Hospital. Four day's later Nathan was on Prednisolone and we were driving to Boston on a Sunday night, after Aaron had worked 15 hours that day. He drove the whole way. Monday morning we walked into Dr. Bergin's office. She is a wonderful pediatric epileptologist whose accent sounds Irish to me. She was brilliant, and kind, and so considerate of our situation.
After Nathan's initial evaluation, Dr. Bergin asked about his course hair and crazy eyebrows. (We always joked about it, but we had never considered it a symptom of anything.) She mentioned that she has treated one patient in her career who carried a gene, the ATP7A defect, called Menkes Disease. It sounded harmless enough. She said that if it was Menkes, his hair would be spindly and it would be evident through a microscope. She also said he would be copper deficient and a simple blood test would reveal the answer within a few days. Aaron and I looked at each other almost as if to say, "Perfect! We give him copper and he will be okay!" Within moments, our joy turned to fear, when she mentioned that Menkes also included a timeline--where the end result would ultimately be death. She was very kind and asked for a blood test and told us it could also be nothing, but that we should wait a few days for the results.
We brought Nathan to the lab, where he would be stuck for the hundredth time for a test that would hopefully not have the answer to our question. We drove home in silence for most of the ride, until Nathan wanted to get out of his seat and play. We took him out and for the first time ever he laughed, smiled and played for over an hour.
Tuesday, we were FINALLY approved by our insurance company to have the Whole Exome Sequencing panel. The test that would hopefully tell us what was wrong with Nathan. We drove to Bangor, went to Nathan's physical therapy appointment with Pam, went to lunch, and went to meet with Dr. Rieley, Nathan's Geneticist, for labwork. We were occupied for most of the day, but we never heard about Nathan's results.
Wednesday, Aaron went to work, I went to work, and Judy (Nathan's Memere) babysat. At 12:35 I received the call I was dreading. "Mrs. Pelletier, this is Dr. Bergin. Nathan's results came back, and unfortunately they are consistent with Menkes. I'm so sorry."
I hung up the phone, returned to my desk, looked around me and couldn't handle being where I was in that moment. I grabbed my keys and drove over an hour and a half straight to Telos to find Aaron. Upon arriving, I was greeted by many people who couldn't understand why I was there on a Wednesday, what I was doing, or what was wrong.
The rest of this story lies in the hands of God.
Many children live a few years, with medical intervention; while many don't live past a year. We are horrified, we are devastated, and our hearts are in pieces. If I could explain what it's like to know you are going to lose your first born child, I wouldn't, because I would never want anyone to feel how we feel. We know the inevitable. We know we will eventually lose our son. There is no cure. But there is treatment.
We will be going to see Dr. Stephen Kaler, the leading scientist in Menkes Research, he researches through the National Institute of Health in Bethesda, Maryland. We will be traveling the first or second week of September to begin the only known treatment for Menkes, which is an injectable copper therapy. That they will teach me how to inject twice a day. Unfortunately, we cannot begin sooner because there is currently no copper available.
I have barely been working through this whole ordeal for obvious reasons. The burden has fallen on my husband. With all of our travel (hotels, gas, & food), Nathan's medications, our co-pays, inpatient stays, ambulance travel--We are thousands of dollars in debt. We also know that the future holds. We know how expensive hospice is, we know how expensive funerals are, we know how expensive travel is, we know how expensive winter is, we also know how expensive our current medical expenses are. We are not asking you to donate for any other reason except that it will make the worst year(s) of our life somewhat free of financial stress.
Please share our story. Share what Menkes is. Please never let another family suffer the way our family is suffering.
With all of our love,
Nathan, Kati & Aaron Pelletier
**A FUNDRAISER IS BEING HELD FOR NATHAN IN OCTOBER--DETAILS WILL FOLLOW. Thank you for your generosity.
For more information about fundraising, please contact Hilary Arsenault through the contact information provided.
Organizer and beneficiary
Hilary Arsenault
Organizer
Millinocket, ME
Kati Pelletier
Beneficiary