Logan's Story

"A good mother thinks about her children day and night, even when they are grown. A good mother loves her children in a way that they will never understand. A mom will be there for her children when no one else will. A mom would take a bullet, stand in front of a train, and ask God to take her instead of her child"
Daniel and I met  and fell in love in 2009 .After a year of dating we found out that I was pregnant we were scared and excited all at once. I had a wonderful pregnancy all my test were normal. We were told all is well and were expecting a healthy baby boy. On November 24, 2010 our son Logan was born. I cannot explain the love that I felt for our beautiful boy, it was instantaneous. After he cleared his entire newborn screening test we were sent home with a clean bill of health. I was so excited to embrace my new role as a mother but I had a lot to learn. Thank God for Family support!!
 After having him home for a few weeks my family and I had noticed some small abnormalities things like: constant cooing, weak cry, gas, but sort of blew them off or thought they were his "normal". I took him to the pediatrician for his newborn screening and his first month checkup but she felt most of the patterns he had were relatively normal and he was eating, sleeping and growing. As the weeks progressed we were heading into Christmas and the New Year we were moving and my Husband was getting ready to go to Chicago for training for his new job . We had a lot going on... it was crazy!!! After the first week of training my Husband came home for the weekend and was playing with our son he had noticed that when he would cry it appeared to be weak and pathetic. The previous day my mom had mentioned his constant cooing .I was staring to wonder but he was eating, sleeping, normal diapers and normal color. The next day he wasn’t eating as much his appetite decreased and he was lethargic. I thought perhaps in all the chaos and it being cold and flu season perhaps despite our best efforts maybe he was coming down with a cold. Later that evening we had planned to go to my in-laws for dinner with the baby while visiting Grandma had noticed that he was having difficulty breathing. THAT WAS IT!!! I called the advice nurse and she advised us to get to the hospital immediately. We whisked ourselves to the emergency room and were quickly brought back where they began breathing treatments and oxygen. I held my baby helplessly as they worked on stabilizing him. My husband and I feared the worst.
It was January 16, 2011 my Son and I rode the ambulance as my husband followed us to Children’s Hospital Oakland. Our Son was struggling and we were terrified as we watched the nurses and doctors busily work. They ran sooo many blood test and cultures on Logan when the test came back normal they were baffled. They kept on trying to figure out what was wrong. They ran x-rays and found the position of his stomach was abnormal and they planned surgery to fix it. But still his breathing was a problem. They also noticed he had some muscle weakness. They kept asking us our family history and as far as we know it were relatively normal. They had suspicions that it may be couple different genetic disorders and after running some test... We finally were told February 24, 2011 that our Son, Logan had a genetic disorder called Spinal Muscular Atrophy with Respiratory Distress. S.M.A.R.D. = Spinal Muscular Atrophy with Respiratory Distress.  SMARD is a neuromuscular condition causing weakness of the muscles. It is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 is not linked to the SMN1 gene locus on chromosome 5q13 (classic SMA), but is caused by mutations in the IGHMBP2 gene on chromosome 11q13. Despite a substantial overlap in clinical features, the phenotypes ofSMA versus SMARD1 can be distinguished.  
In SMARD1, the predominating symptom is a severe respiratory distress due to a paralysis of the diaphragm. Most patients present [show symptoms] at the age of 1 to 6 months with respiratory failure and progressive muscle weakness with predominantly distal lower limb muscle involvement. Sensory and autonomic nervous systems may also be involved.  Early involvement of the diaphragm and predominance of distal muscle weakness clearly distinguishes SMARD1 from Type 1 SMA. Essentially, in SMA1, symptoms manifest in reverse order. Infants with SMA1 will become floppy due to weakness of the proximal limb muscles and assume a frog leg position before they suffer from respiratory failure. In contrast to SMARD1, SMA1 infants have intercostal recessions and develop inefficient respiration due to paralysis of intercostal muscles.
In conclusion, similar to SMA, both parents must be a carrier.  How is SMARD different than SMA?  First, the defective gene in SMARD is different than the one causing SMA.  Additionally, the predominant SMARD symptom is severe respiratory distress due to involvement of the diaphragm muscles. Respiratory problems are generally the first symptoms.
With SMA- roughly 1 in every 10,000 children are born with this disease.
With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.
1 in 40 people are carriers of the SMA gene.
1 in 50,000 is carriers of the SMARD gene.
We had a “family Meeting “at the hospital to discuss our options.neonatologistpulmonologist, nutritionist. He has 6-7 primary nurses. We are constantly amazed by Logan's  sweet disposition and personality. He is sooo BRAVE! During our stay at the hospital we have had to make many hard decisions and our Baby has had a battery of test.We have come a long way and we have learned a lot!!
This situation we never could of expected ourselves to be in. To get married, have a child, husband graduate from college, holidays, move, start a new career, have your son be diagnosed with a genetic disorder, all in less than a year of marriage.For a time my Husband was the only one working so I could be with our Son at the hospital. However, for financial reasons in June 2011 I returned back to work part time. I now split my time between work and family.I still go to the hospital daily and I plan to until our Son comes home.My family has been a  tremendous help financially and emotionally during this tough time .  We are very appreciative for all the love and support we have received from our family,church,community and Children's Hospital Oakland.

Respectfully submitted,
Danielle and Daniel Terborg

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