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.neonatologist, pulmonologist, 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

Maddison's Story

Maddison was born a healthy 7lb 13oz on the 6.8.08,she was perfect.

When the midwives checked her over they noticed that maddison had positional telapese(club foot)but reassured us that a lot of baby's are born with this and that it would correct its self with a few visits to the physio.

We took maddison home the next day,she fed well,slept well, perfect little baby,what i did notice is that maddison had the littlest cry,i have 3 older children so i knew something wasn't quite right.i spoke to my health visitor but she wasn't concerned and said all children are different.

At this  point maddison was 6 weeks old and was on her second visit to the physio for her feet,i mentioned to the physio that the movement in her feet had almost stoped and she agreed,she rang round the hospital to try and get a ped doctor to come a review maddison,but none of them would.She sent us home and said we would hear from her when she had arranged for a ped doctor to see her.

We went home quite puzzled and scared,but maddison seemed to be doing fine and was thriving, so i waited to hear from the physio.

A week later a letter came though the post, saying a neonatal consultant would see her,i was confused as Madison wasn't born early,so i rang Maddie's  physio and she said that he was the children's doctor that would see her.

i took maddison to see the consultant and he wasn't worried at all about her,he said she looked perfect,but he said he would review again to make sure i had no other concerns.

between the time from the 1st appointment to the next one,maddison feet and toes stoped moving completely, plus she wouldn't bare any weight on her legs.i told the doctor when we saw him again, but again he said she is just a bit slower then my other children,and he discharged her.

When maddison was about 4 months old she had what seemed to be a really bad cold,she wouldn't sleep or feed and was really struggling to breath,i took her to the GP and they sent her to the hospital.

when we got to the hospital they said she had bronculitis and needed a bit of oxygen and a ng tube.after a few days she picked up and they let her go home.

she was doing ok in till she was 5 and half months old,this was January 2009.Then she started with the same symptoms as before poor feeding,struggling to breath.I took her back to GP and again sent her straight back in to hospital,this time they sent a note saying xray on arrival suspected phmonia.when we got there the doctors refused to give her a xray and said its just broncitis again,they put her on a ward and ng feed her and oxygen again.After a week of being in hospital maddison was getting no better and i was starting to get mad,i asked for a different doctor to review her.as soon as he saw her he sent for a xray straight away,and in fact she did have phnomonia.

she had 7 days of antibiotics and they sent her home.

When we took her home she was still very weak and still struggling to breath.we was at home for 3 weeks when she started getting ill again.

This was 16th feb 2009,back in accident and emergency.one nurse came into to asses her,i could tell by his face something was wrong.

he went to get a different doctor to look at her,i asked what was wrong and he said her pattern of breathing was the opposite way to a normal persons breathing,meaning when she breaths in her diaphragm was going to wrong way so she wasn't inflating her lungs right.

maddison was put on a ward again,this time she looked really really poorly.

She had a really bad night that night and in the morning she looked terrible,you could see all her ribs with effort of breathing.

the doctors on the ward asked the main doctors on intensive care to come and see her,they did a blood gas and said it was high,they took my baby into intensive care.

There they did a chest xray,they told us her diaphragm was high on the right side,and it was stopping her lung open,and that's why she cant breath.

They put her on a ventilator to try and re open her lung,after a few days there was no change,so they chose to operate on her diaphragm to tighten it and pull it down.they was till telling us that this is probably congenital and after the op hopefully she will make a full recovery.

After a few hours of surgery her lung had re opened and they she came off the vent,things were looking up.

Maddison went back to a normall ward the ext day,she was still on oxygen and was still needed to be NG fed.

One doctor came to see us over the next few days asking lots of questions,she was a neurologist.she was mad with the other doctors for not referring her before.she was asking things like were me  and Maddsions dad related,what was maddison cry and cough like,she was looking at her feet and her reflexes.The doctor asked if she could do a few test and we agreed.

maddison stayed the same for the next 8 weeks,still in hospital,still on oxygen and still needing help feeding.

i started to notice that she was starting to gag when they were NG feeding her,i voiced my concerns,but like normal they took no notice.

In till when it came to feeding her she stated gagging and going blue,they called the intensive care doctors,they came and bagged her round to picu and put her on a vent again,a x ray shown that her NG tube was in fact in the wrong place,and she had aspirated into her lungs.

The neurologist started doing loads more test e.g never conduction studies,muscle biopsy's,lumbar punchers,blood test.

Maddison went back on to the ward,this time they kept her on high dependency unit.After a few weeks maddison took ill again,influenza this time,she was ventilated for 2 weeks.but again she pulled though,my strong little fighter.

back on hdu some of the results started to peace together,her nerve conduction shown problems as did her muscle biopsy.

her neurologist said her muscle biopsy looked like she had something called SMA1,then i had never heard of it.the blood came back negative for sma1.

Then the mention of SMARD1 started to come around,every one kept telling me its not going to be SMARD1 shes to strong,even other neuro doctors didn't think it could be smard1.

Then on may the 20th 2009 the day i will never forget,Dr chow came to us on HDU and took us to a side room and gave us the news we were dreading,SMARD1 positive,it felt like my heart was ripped out, that my head was spinning a million miles a hour.

I ran out the room and just grabbed my baby and held her tight,i was in total shock and despair.

the next few days was a blur,i stayed at the hospital with her the whole time.

A week after Maddisons diagnoses at 3am in the morning the nurse that was looking after maddison rang me in my room at the parents unit in the hospital,maddison had taken ill again and they was taking her back into intensive care.

walking up the corridor seemed like a endless walk,not knowing what she was going to be like when i got there.

Even though maddison had been in picu 3 times before,but this time it was different,this time i knew she might not get better.

After a few days they wanted to try her off the ventilator,the took the tube out at 7pm by 1.30am her blood gases started to go high so they called the on call intensive care doctors.

They came in and put the tube back down,they sat us down and gave us some horrible choices,do we let her live and put a trachy in and ventilate her or let her go the natural way.For me it wasn't natural for a 10 month old baby to die.so for us there was no choice,maddison was not going no were.

the following Monday maddison went down for trachyostomy,plus she had a G tube to as they told me she wouldn't swallow again.

From that day in June 2009 she thrived,we had to learn all her cares e.g cough assist,chest physio,trachy changes,vent training ect.

When Maddison was 1 year old,she started to sit and started to try taster foods.

On the 19th December,a few days before Christmas we took maddison home,almost 11 months after we took her in to hospital.

Weve been home 18 months now and maddison as done fantastic,she has learnt to roll,suffle around the floor,eats all foods,talks and the biggest thing is she as had time OFF her ventilator for over a hour a day.  she is so happy.

Maddison starts main stream nursery in september,she is so clever the teachers say she will top of the class.

We are so proud of our little solider.

Maddison as 24 hour care.

Learn of SMARD

I am learning everyday more and more about the horrible disease that took my daughter.  I am meeting new people and seeing how many more know of this disease. Seeing the lives that are dealing with this every single day.  I want to show others. I want others to learn about this. Learn the stories of these children. Spread the word yourself.  In order for there to ever be a cure, treatment or more help for this disease we need help.  If I was a millionaire I would give my money to The Jackson Laboratory and beg them to spend every hour in the lab doing research on this disease. Maybe someday I could do that!  But in the meantime- I ask for your help. Help in spreading the word. Help in donating a few dollars.  Help by giving your support to fundraisers. Everything helps. 

I have had a couple guest bloggers who have told their story.  I want to continue this.  Please keep checking in and reading more.  Read about these little lives. Read about their everyday. Read about what SMARD means to them...

If you have any questions please ask!

MRW Live Laugh Breathe 2011

I don't have tons of pictures this year. I had like 3 photographers last year so I never worried about taking a single photo. This year I left it up to Ryan. Love that man but he doesn't take many pictures.

He got a few of the entertainment, balloons, etc.  

I want to thank EVERYONE that came. You have no idea how much we appreciate your support. 

We raised over $1000 and all money raised goes straight to The Jackson Laboratory for SMARD research.  It will make a difference. It will get us closer to finding a cure.

Thank You everyone!

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