by Band Back Together | Nov 21, 2019 | Birth Defects, Fear, Maple Syrup Urine Disease, Pediatric Caregiver, Pediatric Transplant |
Fourteen and a half years ago, our lives changed forever.
We had already suspected that something was not quite right with Anna. She had stopped nursing after a few days. I assumed that it was my fault, and since I was afraid that she was hungry, switched to formula and bottle feeding. She did well with that for a few days, but then it seemed like a challenge just to get her to drink an ounce. We called the nurses on the maternity floor where she was born and were reassured that she probably just had gas and an upset stomach because of the switch and not to worry.
I was still worried, but we had our first postnatal pediatrician appointment the next day (July 25), so I knew we would get answers then.
In the meantime, I received a phone call from someone from the state of Michigan. I’m not sure – my memories of that are vague. I remember that she told me that Anna had potentially tested positive for one of the disorders in the newborn screening test, and we should go to the hospital to get blood drawn to confirm it.
I was concerned, but still focused on our doctor’s visit.
When we went to see Dr. Simms, her pediatrician at the time, as soon as we were called back to the exam room, she greeted me, looked Anna over, then excused herself to get one of the other doctors.
I guess she wasn’t sure how I would react to what she would tell me next.
When they returned, she explained that Anna had tested positive for maple syrup urine disease (MSUD), it was very serious, and she was very sick. T
he only specialist in the state who saw patients was located at University of Michigan: we were expected down there and we needed to leave as soon as possible. I remember that her southern accent was soothing and the other doctor gently held my shoulders and guided me to a chair, but my mind was in a fog. I didn’t understand… Anna was born healthy. Both of her Apgar scores were 9. That meant we were supposed to live happily ever after.
Right?
Right???
At the time, Lance was working at Hafer Hardware, and it was lunch time. Dr. Simms allowed me to use the phone in her office to call him. I called the store, but he had just left for lunch. And of course, this was before we had cell phones. I’m sure it was only a few minutes before he finally called back, but it seemed like an eternity.
After reaching him, Anna and I headed home to pack before we headed to Ann Arbor.
On the drive to U of M I poured over my “What to Expect” book. MSUD wasn’t in there. I had heard of it, but only as an ailment of a serial killer in a crime novel I had read, not as a real disease.
When we got to the ER at U of M, Dr. Allen, a neurologist who treated patients with MSUD, and a gaggle of med students crowded into the small room. I remember that he removed Anna’s diaper and passed it around for the students to smell. He then took a swab of her earwax for them to smell. We were completely flabbergasted… what did he think he was doing?
We didn’t realize he was doing it to show the students that both smelled like they had been smothered in Aunt Jemima’s.
You see, there were signs that Anna had MSUD, but we never picked up on them.
She had a very high-pitched, shrill cry, but we joked that she’d sing opera someday. By the time she was 3 days old, she tensed her muscles so tightly she rolled herself over. We bragged that we had a wonder baby who was months ahead developmentally. Her diaper smelled sweet and syrupy.
We chalked it up to being new parents, and being so in love we thought her dirty diapers smelled good.And what we thought was fussiness with the bottle and me not being confident in nursing was actually because her brain had swelled so much that she lost the suck and swallow reflex.
By the time we were in PICU, she had an IV in her scalp because she was so dehydrated that it was the only blood vessel they could use. She had an NG tube giving her nutrition. She was hooked up to heart monitors and pulse-ox monitors. She looked so tiny and helpless there in the bed. We’d never felt so helpless as parents as we did then.
That day is one of the few times I’ve seen my husband break down and sob.
What information we were given about MSUD over the past few days was overwhelming. Most of the official definitions included two very frightening likely outcomes: mental retardation and death.
The prospect of having a child with a restricted low-protein diet was daunting as well. Would we need to become vegetarians, too? If we wanted to eat meat, would we need to hide it from her, making late night drive-thru runs to satisfy our cravings? Those fears seem so trivial now, but they were so real to us then.
Over the next two weeks, Anna got stronger.
After she got out of the PICU, she was moved to a regular room. After she regained some weight and was able to take feedings by bottle, we were able to come home.
She was sent home with the NG tube, as she was still taking about a quarter of her formula that way. Shortly after we got home from the hospital, she grabbed the NG tube and pulled it out, flinging stomach acid all over me. I should have known then that it would serve as foreshadowing for how the next thirteen years would go!
Thankfully, we were able to remove the tube after a week.
As I think back to those days, I also look ahead to what faces us.
When it comes time for her liver transplant, I know that we will face long days in the hospital full of tears, hope, fear, and prayers. The big difference will be that this time, we will be filled with hope.
Hope that although we will be entering a new chapter full of uncertainty, we will be free of the fear that MSUD has caused over the past 14 years.
Hope.
by Band Back Together | Oct 5, 2015 | Baby Loss, Cesarean Section, Coping With Baby Loss, Pregnancy, Spotlight On Baby Loss, Trisomy 18 |
The creation of human life is one of the most complex and shockingly beautiful things that our bodies are designed to do. The microanatomy that goes into this task is so astonishingly complicated that it’s a miracle any of us walk around at all.
And yet, most of us do. Most…but not all.
When a baby dies, we are fragmented. Shattered, we must pick up the pieces and put them back together as we pay tribute to our children, our tables forever missing one, our families incomplete, our treasures in heaven, our babies alive only in our hearts. It is through our stories that they live forever. These children were here and they mattered.
They were loved.
They are loved.
If you’d like to add your baby’s name to our Wall of Remembrance, please fill this out so we can properly remember your lost little one.
It all started out so happy and joyful, knowing I was pregnant again – my third child. No words could express my joy.
Five months into my pregnancy, I had an abnormal blood test. The doctor immediately sent me to see the gynaecologist. That is when all my happiness turned into a shattered dream.
The gynaecologist advised an amniocentesis. My husband and I agreed to take the test right away, but we had to wait two weeks for the results. It was agony. I couldn’t sleep at night. I don’t think anyone can worry more than a mother waiting to find out about her unborn child’s health condition.
When the test resuts came in, it was positive.
My unborn son had Trisomy 18.
I was devastated. I didn’t know where to turn or what to do. Being religious people, my husband and I decided not to terminate the pregnancy. We knew God knows best, so we left it all in His hands. I continued my pregnancy, worrying and praying the entire time. My gynaecologist didn’t support our decision. She repeatedly told us that babies with Trisomy 18 don’t survive. Thankfully, I had a very surportive husband and an understanding family.
Day to day, my bond grew stronger with my baby. With every check-up, he grew and continued to gain weight. Through it all, we kept praying. At 35weeks, my baby’s heart stopped beating, and I was taken for an emergency c-section.
When I met my son for the first time, he was so beautiful. It seemed like nothing was wrong with him. Everything looked perfect.
We laid our son to rest on the 11th of September, 2015.
I’m glad I didn’t give up and terminate the pregnancy. He was a total blessing in my life.
by Band Back Together | Sep 20, 2015 | Anxiety, Fear, How To Help A Friend Whose Child Is Seriously Ill, Maple Syrup Urine Disease, Pediatric Caregiver, Pregnancy Complications, Stress, Trauma |
Thirteen years ago this past July our lives changed forever.
We had already suspected that something was not quite right with Anna. She had stopped nursing after a few days. I assumed that it was my fault, and since I was afraid that she was hungry, switched to formula and bottle feeding. She did well with that for a few days, then it seemed like a challenge just to get her to drink an ounce. We called the nurses on the maternity floor where she was born, and we were reassured that she probably just had gas and an upset stomach because of the switch and not to worry.
I was still worried, but we had our first post-natal pediatrician appointment the next day (July 25), so I knew we would get answers then.
In the mean time, I received a phone call from someone from the state of Michigan. I’m not sure, my memories of that are vague. I remember that she told me that Anna had potentially tested positive for one of the disorders in the newborn screening test, and we should go to the hospital to get blood drawn, to confirm it. I was concerned, but was still focused on our doctor’s visit.
When we went to see Dr. Simms, her pediatrician at the time, as soon as we were called back to the exam room, she greeted me, looked Anna over, then excused herself to get one of the other doctors. I guess she wasn’t sure how I would react to what she would tell me next. When they returned, she explained that Anna had tested positive for maple syrup urine disease (MSUD*), it was very serious, and she was very sick. The only specialist in the state who saw patients was located at University of Michigan, and we were expected down there, and we need to leave as soon as possible. I remember that her southern accent was soothing, and the other doctor gently held my shoulders and guided me to a chair, but my mind was in a fog. I didn’t understand…. Anna was born healthy. Both of her Apgar scores were 9. That meant we were supposed to live happily ever after.
Right?
Right???
At the time Lance was working at Hafer Hardware, and it was lunch time. Dr. Simms allowed me to use the phone in her office to call him. I called the store, but he had just left for lunch. And of course, this was before we had cell phones. I’m sure it was only a few minutes before he finally called back, but it seemed like an eternity. After reaching him, Anna and I headed home to pack before we headed to Ann Arbor.
On the drive to U of M I poured over my “What to Expect” book.
MSUD wasn’t in there. I had heard of it, but only as an ailment of a serial killer in a crime novel I had read, not as a real disease.
When we got to the ER at U of M, Dr. Allen, a neurologist who treated patients with MSUD, and a gaggle of med students crowded into the small room. I remember that he removed Anna’s diaper and passed it around for the students to smell. He then took a swab of her earwax for them to smell. We were completely flabbergasted… what did he think he was doing?
We didn’t realize he was doing it to show the students that both smelled like they had been smothered in Aunt Jemima’s.
You see, there were signs that Anna has MSUD, but we never picked up on them. She had a very high pitched shrill cry, but we joked that she’d sing opera someday. By the time she was 3 days old, she tensed her muscles so tightly she rolled herself over. We bragged that we had a wonder baby who was months ahead developmentally. Her diaper smelled sweet and syrupy. We chalked it up to being new parents, and being so in love we thought her dirty diapers smelled good. And what we thought was fussiness with the bottle and me not being confident in nursing was actually because her brain had swelled so much that she lost the suck and swallow reflex.
By the time we were in PICU, she had an IV in her scalp, because she was so dehydrated that that’s the only blood vessel they could use. She had an NG tube giving her nutrition. She was hooked up to heart monitors and pulse-ox monitors. She looked so tiny and helpless there in the bed. We had never felt so helpless as parents as we did then. That day is one of the few times I’ve seen my husband break down and sob.
What information we were given about MSUD over the past few days was overwhelming. Most of the official definitions included two very frightening likely outcomes: mental retardation and death. The prospect of having a child with a restricted low protein diet was daunting too. Would we need to become vegetarians, too? If we wanted to eat meat, would we need to hide it from her, making late night drive-thru runs to satisfy our cravings?
Those fears seem so trivial now, but they were so real to us then.
Over the next two weeks, Anna got stronger.
After she got out of the PICU, she was moved to a regular room. After she regained some weight and was able to take feedings by bottle we were able to come home. She was sent home with the NG tube, as she was still taking about a quarter of her formula that way. Shortly after we got home from the hospital she grabbed the NG tube and pulled it out, flinging stomach acid all over me. I should have known then that it would serve as foreshadowing for how the next thirteen years would go!
Thankfully, we were able to remove the tube after a week.
As I think back to those days, I also look ahead to what faces us. When it comes time for her [liver] transplant, I know that we will face long days in the hospital full of tears, hope, fear, and prayers. The big difference will be that this time, we will be filled with hope.
Hope that although we will be entering a new chapter full of uncertainty, we will be free of the fear that MSUD has caused over the past thirteen years.
*Maple syrup urine disease is an inborn error of metabolism.
by Band Back Together | Oct 22, 2014 | Anxiety, Anxiety Disorders, Coping With Anxiety Disorders, Generalized Anxiety Disorder Resources, Genetic Disorders, How To Help A Parent With a Special Needs Child, Maple Syrup Urine Disease, Parenting, Special Needs Parenting |
My daughter brought home her first trimester report card yesterday. She got all A’s and B’s, which I know will make her grandparents proud. I’m proud too, of course. But….
I read more than the report card. I read her progress report on her IEP goals. The report that says she’s making “slight progress” in her language arts and math classes. These are classes she takes in the cognitively impaired (special ed) room. The report also reminds me that she reads at a third grade level in some areas, and at a first grade level in others. She’s been at a third grade level since about fifth grade. She is in seventh grade.
This is when the anxiety creeps in again. When I start to worry about her future. Will she ever read at higher than a third grade level? Will she ever be able to do more than basic arithmetic? If she can’t take the standardized tests in high school, will she even get a diploma? College is likely out of the question, but there’s a tech school here in town through the school system, maybe she can go there?
Then there’s the jealousy. Hearing my friends and acquaintances kids’ read four grade levels beyond their age – skip grades – attend Big 10 colleges – earn all A’s.
Then I just try to focus on what’s happening right now. One day at a time. Push those worries back to that dark corner of my mind.
Until the next report card comes.
by Band Back Together | Jun 30, 2014 | Child Protective Services, Chronic Illness, Ehlers-Danos Syndrome, How To Help A Friend With Chronic Illness, Invisible Illness |
For many, becoming a parent is an inherent, indescribable experience that subconsciously transforms you into a fiercely protect caregiver. When your child becomes ill, your natural inclination is to seek medical attention and abide by the doctor’s orders. However, if the illness is caused by a complex medical condition, sometimes answers are not as easy to find. There comes a point in which, after numerous attempts to find the answer, the burden of proof appears to be placed upon the families or even the patient themselves.
With the embattled medical negligence case between the Pelletier family, Boston Children’s Hospital and Massachusetts Department of Child and Family Services (DCF), it brings to light the struggles of treating a complex and poorly understood medical condition, patient and family rights, and quality of life issues. I am not a medical expert, I am not a lawyer, and I do not know the Pelletier family. I am someone who struggles with a rare medical disorder, and thirty years ago I was Justina Pelletier.
In May of 1984, after numerous hospitalizations, tests, visits with specialists and multiple incidents of respiratory arrest, local doctors in collaboration with Boston Children’s Hospital were out of answers and filed a complaint against my parents with DCF. The complaint was based on unsubstantiated claims by someone who claimed to be an “acquaintance.” There was no home visit, no interview, not even a second opinion from an unaffiliated medical expert. My parents were accused of medical negligence even though they followed the advice of the pediatrician and the hospital’s attending physician.
Reading the report, I found it not only to be inflammatory but completely devoid of any factual evidence. There was no mediation or care plan developed between the hospital and my family, only threats echoed through the Department of Children and Family Services. When my father questioned the DCF case manager on the legitimacy of the accusations, her response was that she read the report and “just knew.” While I understand the intended purpose of these investigations is for the best interests of the child, that is not what happened with my family and it doesn’t appear to be the case for the Pelletier’s.
When you look at the Justina Pelletier case, it is mind-boggling; it feels like there has to be something more to the story that’s not being told. How could a world-renowned hospital and an agency dedicating to protecting children be responsible for the implied child abuse and child neglect? If you do not have firsthand experience, it’s hard to imagine. For my family and I however, we feel overwhelming compassion after every press release for Justina Pelletier.
Luckily in my case, my parents were able to reach an outside specialist who performed an emergency bronchoscopy – a procedure Children’s Hospital was capable of but failed to do – and located the source of my life-threatening respiratory distress. A rare structural birth defect called an “innominate artery” caused my aorta to cross over my trachea, crushing it, and in conjunction with a smaller lung defect would have cost me my life had my parents not pushed for more answers. Approximately one month following the DCF investigation, surpassing typical life expectancy for the defect, I had lifesaving cardiac surgery at Massachusetts Eye and Ear Infirmary, a world-renowned teaching and surgical facilities for disorders of the head, neck and chest. Had the Department of Children and Family prevailed, it would’ve killed me.
My health struggles did not end following the surgery. After twenty years of multiple surgeries, injuries, and complications, I was diagnosed with ehlers-danlos syndrome. The genetic specialists at Brigham and Women’s Hospital of Boston compared my medical history and, combined with my clinical presentation decided that I fit the profile for the hyper mobility sub-type of Ehlers-Danlos syndrome. My defective collagen and its systemic effects validated my experiences and helped me build a care plan with my team of specialists. In doing so, it helps ensure the best quality of life possible. Justina Pelletier and all patients with complex medical problems deserve this.
“Doctor shopping” is a term thrown around when a person seeks answers from multiple providers or alternate treatment. Being proactive and locating appropriate treatment is not doctor shopping. Complex medical conditions do not equate psychological imbalance or parental medical negligence.
Now that the state of Massachusetts has been granted permanent custody of fifteen-year old Justina, the irony is inescapable. If Justina’s condition is purely psychosomatic, as suggested by Boston Children’s Hospital, and her parents are to blame? Why does she continue to deteriorate whilst presenting with tangible physical symptoms? If her parents have not been permitted contact with her, surely there has to be a more logical answer. The fact of the matter is Justina Pelletier is being punished for being ill while the witch-hunt against her family plays out on a national platform.
My hope is that Justina is as fortunate as I was and receives the medical care she so desperately needs … before it’s too late.
by Band Back Together | Nov 16, 2010 | Anger, Caregiver, Faith, Family, Fear, Feelings, How To Help A Friend Whose Child Is Seriously Ill, Maple Syrup Urine Disease, Pediatric Caregiver, Pediatric Transplant |
My daughter has been waiting over nine months for a liver transplant.
And my daughter is angry.
She’s angry at God. In her eyes, He’s the one who created her with this disease, it’s His fault.
She’s angry with me. I’m her mom. I am the fixer of boo-boos. Yet with this, I am powerless, and that frustrates her.
She’s angry with the transplant coordinator; afraid that she’s completely forgotten about her.
She’s angry with the organ donors who, as terrible as this is, haven’t died yet. She doesn’t completely comprehend that a tragedy has to happen to a family in order to have her transplant. She just knows that a donor has the liver she needs.
I try to soothe her anger, but I’m not very successful.
Maybe because I am, well, not angry, but frustrated too.
