Madison's Battle with Mitochondrial Disorder

 

Madison's Story

 

Madison Morgan Grantham was born on July 29, 2004.  She weighed 5lbs. 6oz., and was 19” long.  She was a perfect & beautiful baby.  Madison progressed normally as the months went on.  At 6 months Madison got a cold and then stopped gaining weight.  She stayed at 13 lbs.  For 3 months.  I had taken her to the pediatrician to find out if there was a reason for this.  The pediatrician said she looked happy and healthy but did some tests.  Everything came back fine.  At 9 months, Madison was a happy baby who loved to get into everything, especially the cat food!  On May 19, 2005, I put her to bed and turned on her Ocean Wonders Music Box.  Madison would turn it off just so mommy would come and turn it back on again.  As soon as she would hear me open the door she would flip over and pretend to be asleep.  But she’d always let out a giggle so I’d know she was awake. 

 

That particular night I waited until she was sleeping and carried her into my bed.  I would do that on occasion so that when she woke up she’d find me next to her.  At 5:00 in the morning I heard her cry and thought that was strange because she didn’t usually cry in the morning.  So I got up and went and made her a bottle without even looking at her or turning on the light.  When I came back into the room I handed her the bottle and she only lifted her left arm to grab it.  I picked up her right arm to put it on the bottle and it fell back to the bed.  Then I noticed her right leg was pulled up and her neck was jerking to the right.  Then I noticed her right eye was deviated off to the right.  First I thought stroke, then I realized it was a seizure.  I called 911 right away and got her onto the living room floor so she couldn’t fall and hurt herself. 

 

The ambulance took her to our local hospital and they tried everything they could think of to stop the seizure.  I held her little hand through it all.  She was still crying and trying to communicate with me at this point.  But soon she fell to sleep because of all the medicines.  That was the last time I ever saw my baby normal. 

 

Our local hospital called children’s hospital in Milwaukee, WI and we were transferred there.  It was about 20 minutes away from us.  When we got to children’s they gave her medicine after medicine and intubated her because of all the medicines.  She had a seizure for over 22 hours.  The only way they stopped it was to put her into a drug induced coma.  She was in the coma for 12 days.  When she came out of the coma we had lost everything.  She was like an infant again.  She couldn’t even suck or swallow very good.  She ended up having a G-Tube put in.  This is a tube inserted into the stomach so we could feed her.  She came out of the coma with some significant brain inury.  It involved the Brain Stem and because of that she also had a movement disorder.  Her fingers are usually twitching all the time. 

 

The head of Neurology put her on this vitamin cocktail that is supposed to help brains heal better.  But she also suspected that Madison had a disease called Mitochondrial disorder.  Well of course I run off and look it up on the internet.  This is a genetic disease and it’s considered terminal.  At the age Madison was it supposedly takes them soon.  This is a genetic disease and most of the time it is passed from the mother to the child, but there are 2 other ways to get it.  Autosomal Recessive is where the baby gets a bad gene from the mother and a bad gene from the father, that was our case.  There is also something called DeNovo Mutation.  This is where the babies gene mutates on it’s own.  Madison had a muscle biopsy and a skin biopsy to confirm she had this illness.  It came back that she had a Type I deficiency.  She had a Mitochondrial disorder. 

 

We got to leave Children’s hospital after we got her completely stabilized.  That took 6 weeks.  She gained several pounds over that time.  When we got home we had PT/OT and speech therapies 2 times a week each.  We started to make some small gains with Madison. 

 

On October 14, 2005 I noticed that Madison had some jerking on her right side.  I took her to the Emergency room and they looked at her and the Neurologist on call stated it wasn’t seizures but they could observe her for 24 hours if I wanted.  I went home.  The next day I called and stated that I knew these were seizures.  The neurologist stated that I should give it a day and it should get better.  I called the next day and the next.  Finally they agreed to do an EEG on her.  They asked if  the next week would work.  I emphatically stated that NO, it had to be this week.  So they set it up for 2 days later.  The day before I called frantic and stated that I KNOW she is having seizures.  The nurse online told me that we had a EEG set up for tomorrow and to wait til then. 

 

We came in for the EEG and within minutes people were rushing into the room and we transferred her to the ICU.  She WAS having seizures for a whole week.  The neurologist stated (In front of witnesses) that she was excusing herself from the case because it was too complicated for her.  That was fine with me.  I was going to fire her otherwise.  Madison had to be put into a coma again. 

 

We started to bring her out of the coma, she seized again, she went back into the coma,  same thing next time.  Finally I told them that they had to let her do whatever while coming out of a coma so that we could get a new medicine into her that would stop the seizures.  They did that.  She did have seizures but they were not frequent or severe.  So about 3 days later the medicine kicked in and she stopped seizing.  This particular medicine called Felbatol has serious side effects such as liver failure and aplastic anemia.  So when we were released we would have to get blood work every week to check her liver functions. 

 

After 6 weeks we got her stable enough to go home again.  We had lost some of what we had gained but not all of it.  Again we start with PT/OT and speech.   I complained about swelling in her hands, feet and face to her Neurologist and to her GI doctors.  Neurology said, I don’t know what could cause that and GI stated she must be getting to much sodium and reduced it. 

 

I then discovered a treatment called Hyperbaric Oxygen Therapy.  There is a little girl in our state who has the same type of disease and she was told she’d die by 2 and the mother started these treatments on her.  This little girl made remarkable progress.  Today she is walking, talking, eating by mouth and she can see again.  She just turned 7.  So I was excited to do this for Madison.

 

We started Hyperbarics in March of 2006.  Madison made remarkable gains in the three weeks that she did Hyperbarics.  She could hold her head up much better, she was getting her center of balance, she rolled from her side to her back, she focused on you, she’d track objects occasionally,  she started swallowing more and would suck on her pacifier a bit.   I was so excited and couldn’t wait every day to see if there would be a new improvement. 

 

In late April of 2006 I noticed one day that Madison’s tummy was distended.  It went down by the evening but they next day was swollen again, same thing the next day.  So off to the Emergency room we go.  The did several tests that showed her liver may not be functioning well, or her gall bladder but they couldn’t tell me which.  So unless I wanted them to observe her for 24 hours I could go home.  I , of course, did. 

 

On Monday, May 1, 2006, I took her to her GI for the tummy issue.  They admitted us immediately.  Madison was in liver failure.  They did not think she was going to survive this.  My question is, if you were monitoring her liver since November on a weekly basis, how did you miss this one.  She had extremely high ammonia levels (which can cause neurological issues) and bleeding issues (she’s like a Hemophiliac, her blood takes too long to clot and she could bleed to death easily).  They tried everything they could think of to lower her ammonia levels and to improve her clotting time.  Nothing worked. 

 

There is an employee at children’s who has 2 children with Mitochondrial Disorder.  The youngest son passed away in March of 2003 at age 7.  The older son is 14.  Both the boys have liver issues.  She discovered something called Acetylcisteine.  This is used to help your liver not be damaged after a Tylenol overdose.  But researchers in California have found it helps children with Mitochondrial disorders.  It helps their ammonia levels go down, there clotting time return to normal and it supposedly helps the Mitochondria themselves to work better. 

 

I had to fight tooth and nail to get her doctors to put her on the Acetylcisteine.  But after a week of begging them to do it they agreed.  Within 24 hours her ammonia levels fell and the clotting factors improved.  We do know that she is in chronic liver failure.  If I don’t do something she will die within the year.  The Doctors at Children’s hospital of Milwaukee continually make references to me not doing anything, to just let her go.  They have given up hope and are not trying to save her life, and in my opinion they are not trying too hard to make her comfortable either. They do not KNOW my child.  Madison has fought so hard and long.  You can tell that she wants to be here.  She tries so hard that I know it’s my responsibility to help her survive any way I can. 

 

We have discovered two options to help her to live.  But of course they are costly.  It is stem cell therapy and gene replacement therapy.  I HAVE to get the stem cell done soon or she will die.  The stem cell therapy will save her liver.  It’s proven in Mexico and in London that this saves livers that are in chronic liver failure.  The gene replacement therapy may stop her Mitochondrial disorder.    

 

 

 

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