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Friday, November 17, 2006

Megan's Story

Megan was born October 17, 2006 after a healthy pregnancy and delivery. Her two older brothers, James and Ryan were very happy to add a sister to our family. The only complication we had was Meg failed the newborn hearing test - no big deal, right?

Well, it turns out she was born severely hearing impaired. This was devastating to us when we found out at 3 months of age. I look back now & think how easy that would have been to deal with alone.

Right around this time we also noticed some odd facial expressions that concerned us.

A neuro consult was scheduled that took place in March(first available appt.). This is when the rollercoaster started for real. By May she was having at least 8 seizures a day and her GERD was horrendous. So bad I was afraid to sleep (the little time that she did sleep at night) in case she choked to death or had a siezure that would not stop.

She cried continuously, & had failed to meet ANY developmental milestones yet, confirming my early suspicions yet to be taken very seriously by medical professionals. In June the siezures were captured on EEG(2nd attempt) & she was also diagnosed with a cortical visual impairment, likely as a result of seizures.

Megan's body was there, but her mind was absent. Rigorous therapy was not helping either. In July a muscle biopsy was done for diagnosis of Mitochondrial Disease ( 2 months later a Dr. confirms Mito Disease based on the histology & actual muscle.We traveled to NY in Dec(1st avail) to get the exact mito disease diagnosed by the "mito" specialist & this Dr. was not so confident in the biopsy report & we then had extensive genetics workup - all coming back normal in April.

What a process!!

Her MRI showed delayed myelination(white matter). MRS(brain study) revealed elevated lactic acid levels and abnormal metabolic ratios. Only lab that was off this time was increased lactic acid in her metabolic panel. Through this time she has been chronically sick, not responding to antibiotics for bacterial infections unless she is treated with Roceffrin. Cause of illness can not be found - every 3-4 wks. we go through this.

She has intolerable back pain that hurts to move her with high fevers - not good for a child with siezures. She also has a Gtube that was placed in Feb. 08 for failure to thrive as she had not grown in almost a year, although she eats pretty well. Now that she has the tube, we can see how long it takes her to digest food - hours.....not normal.

Good news is she has grown. To date she has grown almost 3 inches and gained apx. 3 pounds - in 3 months. She is still small for her age, but catching up. Her awareness also seems better to me, visually & mentally. All of these things -good and bad -point back to mito disease - but which one? Back to where we were in September of 07.

As of last week we were told that Meg will probably never walk, talk or have the ability to even sit up. Her immune system is weak and suceptible to infection(really???) which can be serious, and her life span will depend on these facts along with the quality of her care, which should be pretty much the way it is now forever. As you can imagine we were devastated - again.

A day after the news we discuss how God is the only one who really knows the outcome and we continue to believe God and Meg's angels(I know she has them!) will guide all of us through this. We love Megan so much & are truly blessed to have been chosen as a family for such a beautiful, sweet, special little girl. I have come to realize things most can't, like the importance of the little things in life that seemed to whiz by me before.

Small accomplishments seem huge for us and for her and I dont take each day for granted anymore. Cuddling with her is the best feeling in the world & I am grateful that we can enjoy that together.We are revisiting the muscle biopsy & a fresh sample will be biopsied at one place, at one time for better results to confirm?? a mito diagnosis?? Hopefully we can isolate what this is, but it is hard with over 200 genes known to date that are involved and 26,000 in the body. They say you cant test them all, but I want to!

We are also looking into Hyerbaric Oxygen Therapy as we have heard great things about it!!! We will not give up HOPE or our faith in GOD or our little girl. Our family and friends have been here for us in so many ways - thanks!!!! Since I wrote this the United Mitochondrial Disease Foundation has reviewed Meg's muscle biopsy and wrote to me saying that the one we had shows the problem - Coenzyme C Oxidase Deficiency Complex IV.

The new biopsy should be for sequencing purposes and to confirm the origination - maternal inhertance or more likely autosomal recessive which would mean Pat and I both had a bad copy of the same gene and Meg got the lucky egg and sperm that had them and the 25% chance that it would fester into a disease did.

Check out the journal for new information. I'll update as much as I can.