The Hunt Is Over...The Ugly Truth.

Mitochondrial diseases are fatal. The thrill of the hunt was rewarded with a death sentence for my beautiful boy last week. I have not had much time to sit and reflect on what this means for my little family. I am still spending a lot time and brain power at my new job trying to learn everything. I am trying to forget about Mito for as long as I can, maybe pretend it doesn't even exist. I mean how can something so horrible happen to families like ours? Why would God create a beautiful life and take it away so early? "Really, God please why, why him?" I find myself thinking more then I care to keep track of. 

This is a little bit of the updated addendum from the metabolic/genetic counselor/neurogenetic docs notes from Kennedy Krieger this summer. 

-Plasma amino acids and TCA intermediates were reviewed and interpreted by Dr. Kelley as follows: plasma amino acids showed elevated glutamine, alanine, and threonine, as well as low methionine. Together with the TCA profile showing high ratio of isocitrate to 2-ketoglutarate, this suggests complex I deficiency. Even though a molecular defect was not identified in mtDNA or the 101 nuclear genes tested, there is sufficient evidence of mitochondrial dysfunction that Dr. Kelley recommends treatment with L-methionine and carnitine.

-Robby's mother was found to carry the Xq28 duplication. The clinical significance of this duplication, if any, is still unknown.

These results were discussed with Robby's mother by phone. I explained that we still do not know the cause of Robby's condition. It is possible that there are a combination of factors going on (e.g. mitochondrial dysfunction plus the chromosome duplication). We do not have recommendations for further testing at this time. We can re-evaluate Robby from a diagnostic perspective at his follow-up visit next year. 

This addendum was electronically signed by: Julie Cohen, Sc.M., C.G.C. Genetic Counselor
Date: 11/09/2012 at 2:45 PM 



So there it is. The ugly truth that I was expecting the past number of years. But now that it's here I wish it would just go away. This all hurts too much.

I'll try to keep updated better. Life makes me crazy, but writing, no matter how short the entries are, makes me feel better.

My inspiration for blogging

Here is why I choose to blog:
I want to be able to update all my family and friends about my son Robby who has a Leukodystrophy & a Mitochondrial disorder. He also has seizures, Optic Atrophy and microcephaly.
This site is also to share updates about my beautiful little girl Madison Marie. She is the best big sister in the world and deserves alot of credit for helping her brother come along way in his new found abilities. They are inseperable and the best of friends. I couldn't imagine my life without them!

A little about Robby and his disease:
Robby was born on August 26, 2004. Robby was a healthy baby weighing in at 5lb 12 oz. and 18 1/2 in. He was just the cutest little baby boy and his dad and I were so proud. Madison, his big sister, was so happy to see him. After the first few hours I just knew something was not right but the Drs. just kept telling us he was fine. We went home on Aug 29 and he had his first well visit on Aug 30 were I expressed my concerns to the pediatrician that I felt his breathing was not well. I was told it was just striders and some babies will have this the first few days. By Wednesday Sept 1 we were still not convinced, his breathing was so eratic and sometimes he wouldn't breathe for a 30 seconds. Two days later on Sept 3 things were much worse and Robby would not stop screaming. He also would not eat or nurse. We spent the day as a family on the road and hoped that the driving in the car would put him to sleep, but no such luck. By Friday night the screaming was intesified and he would not stop. At Midnight I called the pediatrician. We did not even wait for him to return our call, we raced the baby to the ED where within a few hours our world would change forever.
Robby spent 2 weeks in the NICU at Lehigh Valley Hospital before being transferred to the NICU @ CHOP. It was another 2 weeks there before they sent us home. We came home with a DNR letter and Hospice, talk about complete disbelief, our little boy was so sick they said he probably wouldn't make it to Christmas.
We spent the next few months enjoying life. In November I took him to Rochester NY to Golisano Childrens Hospital where we met with Genetics and Dr. Georgianne Arnold. They ran numerous tests but nothing was conclusive. We came home and put the medical things aside to just focus on our baby. But then the curiosity came back and the need to know became so strong for me. I spent hours online typing in his various symptoms, we knew it was genetic somehow we just weren't sure exactly how. I then found Dr. Kelley at Kennedy Krieger Institute in Baltimore, Maryland. It is a special hospital for children with neurological conditions. They are associated with John Hopkins. Dr. Kelley knew Dr. Arnold and agreed to look at his records but said he was not accepting new patients at the time. That was until he saw Robby's records! Upon review he immediatly called me at work to tell me that we needed to bring Robby ASAP to KKI. He said at the time there were 3 other children with similar issues. Now there are 11 in the world with the same MRI/S findings. After biochemical testing and a muscle biopsy, Dr. Kelley had some ideas of a possible Mitochondrial disease due to the findings in the Biochemical results. The muscle biopsy found nothing. Dr. Naidu the other researcher who specializes in Luekodystrophies feels that it is genetic but she is not positive that it is Mito. Both are very good doctors and we trust them very much. It is just frustrating to not have any answers.
For now Robby is doing well, he has seizures and visual impairment, he is immobile and non verbal but he is the most amazing little boy. He just turned 5 and we are so happy he is still with us. I am currently being tested for Mito too. I undergo my muscle biopsy on Oct. 8. Hopefully it will bring results to my pain and muscle issues and also help Robby's doctors in answers they are looking for.