When Grace was 4 months old we started to wean her off breast milk,while she was drinking her formula she seemed to cough, alot, too much.We took her to the doctor and after a swallow study they told use not to be alarmed ,that her throat muscles have not fully developed yet and that she was aspirating,this means that some of the liquid would go into her lungs instead of her stomach,they advised us to begin thickening her liquids and give it till she was a year old so that her throat muscles can develop fully.
I also need to make a shout out to ,well we will call it a MOTHERS INTUITION,during these coughing episodes my wife (Jill) new something was wrong and was very concerned I on the other hand was not so concerned and remember saying its just a little coughing.It was a little coughing all right, and before long the word concerned would be a serious understatement and soon replaced with fear.
Thickening her liquids seemed like a great idea ,we would start at a nectar consistency and before long we were in the hospital with pneumonia.This is very scary,why is this happening and again because of aspiration a nectar consistency was not enough so we began a honey consistency.and yes again we were told to give it till she was a year old to see if the muscles in her throat would develop and become stronger.
Again a mothers intuition steps in, Jill was steadily insisting that something was wrong,something is not right.
I on the other hand was, I guess in denial I wanted to believe the doctors so bad,her muscles were going to get stronger and everything was going to be ok.WRONG!!!
Before Grace turned 6 months old we were back in the hospital with pneumonia again and believe it or not there still blaming it on throat muscles not being developed and want her to begin a pudding consistency,we have no choice but to start the pudding consistency but were not waiting till shes 1.and its ridiculous to ask us too ,were starting to get pissed off at this medical team and insist on seeing a neurologist.
We are basically in an absolute panic at this point, I mean something is wrong with our daughter and we need to see a brain doctor,yes I was freaking out.
Grace was, I think meeting milestones at this point she was sitting up, babbling, rolling over however she was not pulling up or going from laying down to sitting on her own but she would sit up by herself if placed in a sitting position.
We made an appointment with a neurologist and a developmental pediatrician on the same day ,we went to the neurologist first who wanted to do a MRI and then do blood work.Why he wouldn't do the blood work immediately I don't know but I remember being pissed about it .I want answers, NOW!
but he wouldn't do them saying he didn't want blood work to interfere with his thinking while looking at the MRI.
I was thinking you are a brain doctor and that's too much multitasking for you!!
I finally gave up because I new we were going to this other doctor and now my full intention was to have her do the blood work.
We did make too much money for any kind of medical assistance and this developmental pediatrician did not accept our insurance.Her apt. was 500 and sum $s.oh yea believe it.
Believe it or not she would not do the blood work either she wanted to see the MRI results first as well,WHAT IS WRONG WITH THESE PEOPLE!
The day came for the MRI, this is serious my 6 month old daughter is about to get anesthesia and I have to sign something explaining the risk and say there not responsible.wtf.not cool.
They give her Valium so she will be calm when we hand her over.I keep telling my self this is just an MRI,my wife is crying I'm starting to cry and try not to show it ,we're there alone and its just an awful moment.
Time is going by, this is taking too long,something is wrong.
Grace is not coming out of anesthesia very well and is having trouble breathing.they wanted us in the recovery room so Grace could hear our voices,this went on for a couple hours and the all the sudden she was fine.NOW WE WAIT.waiting for results is something we would unfortunately get use to doing, if that's even possible.
Looking back I cant believe how we were treated I'm remembering that the results were in but we couldn't get a follow up apt. for like 2 months because the doc. was booked.
When we finally got the results we were so mad but soon very happy to hear that the results were normal and showed no abnormality.
This is awesome news but soon you realize, we still don't know whats wrong.
The neurologist is referring us to a metabolic doctor.
All these doctors are in the same hospital.
We made the apt. and the blood work is beginning.We would go, they'd take blood, weeks sometimes months would go by, they'd call its normal,normal,normal,normal more blood work normal,normal.
I'm getting pissed something is wrong its 2006 and you cant figure it out.wtf.
I just want to through in that I'm very thankful to know because there are thousands of parents out there that don't know, and may never know.So I for one will gladly count my blessing.
Eventually the doctor informed us that we had done all the blood work we could do and we may never know what was wrong.
Now this is a blow like no other, heart breaking ,there are no words to explain it.
There suggestion, a muscle biopsy,this is to me out of the question.NO WAY...
Grace is now 1 years old were still thickening her liquids and doing regular swallow studies nothing is getting better, we even tried this treatment called vital stem,but it didn't help.
then we got a letter in the mail from the doctor encouraging us to do the biopsy,telling us that they could most likely find out what is wrong this way and with out a diagnosis there is no treatment.
For the first time these doctors were making sense.
Terrified of the anesthesia we schedule the biopsy,and soon find ourselves in the hospital giving Grace Valium and preparing to hand her over again.OMG.
Knowing what happened last time ,this time is even worse.I cant believe I'm letting them do this to her!!!!!!!!
AND WE WAIT
Finally the results are in,the doctors calls Jill and tells her over the phone and schedules an apt...
Jill calls me and tells me that Grace has a mitochondrial disease her complex 4 only works at a 15% rate.I don't even know what that is.Never heard of it.we Have no clue what this means.
The doctor advises us to not look this up on the Internet because what we would find would not be good to read and we need a doctor to explain it.
Of course by the time i got home from work Jill had looked it up and was devastated and not completely understanding it.
I didn't know how to act,I was numb.
We went to the apt. only to hear that this doc. wasn't to familiar with this rare disease and referred us to fort worth but not before informing us that most, but not all children born with mitochondrial disease do not live beyond 2 years old, and those that do usually wont pass there teenage years.
This doctor really lacked in her bed side manor.
Needless to say we leave this doctors office pissed off and broken.
I cant explain how I felt I guess if your reading this blog you probably know the feelings, and if you don't, I pray you never do!!!!
Every 15 minutes a child is born that will develop mito by age 10.
MITOCHONDRIAL DISEASE IS NOT RARE!!!!!!!