Mitochondrial Disease

Overview:
My daughter is diagnosed with Complex I mitochondrial disease. She was born healthy and full term with out any suspected problems. After a severe bout of pneumonia at 16 months she began to show signs that something was wrong.

Symptoms:
Audrey has chronic fatigue sleeping up to 23 hours a day. She has gastroparesis which began as dysphagia and now has progressed to the point she is TPN dependent with very little j-tube feeds. She has hypoglycemia and temperature instability. Audrey intermittently requires oxygen during sleep and play. She has mild developmental delays and is suspected of having auditory processing disorder though she is too young to diagnosis this.

Testing/Diagnosis:
Prior to her diagnosis, Audrey underwent an MRI, multiple blood test, urine organic acids, sleep studies and seizure evaluation. Results led to a suspected mitochondrial deficiency. She underwent a muscle biopsy which confirmed a complex I deficiency. She is waiting to undergo DNA testing at this time.

Treatment:
Audrey takes over 18 doses of medications each day. She is on the standard mito cocktail of carnitine, Co Q 10 and riboflavin, plus many others. She is also on TPN 24 hours a day and some feeding through her j-tube.

Resources:
curemito.org, mitoaction.com



Contributed by MOM Elsa Yedinak.  Check out Audrey's blog for more.

Pierre-Robin Syndrome with MRSA

Overview:
Pierre-Robin Syndrome is a condition most often diagnosed at birth. It is sometimes genetic. Pierre-Robin Syndrome occures in 1 in 33,000 births. It presents with a small mandible and a cleft palate occasionally with a cleft lip as well. The childs tongue is normal sized but falls backwards and causes the child to stop breathing.

Symptoms:
Inability to eat/bottle feed normally. Breathing difficulties

Testing/Diagnosis:
Visual diagnosis for Pierre-Robin Syndrome and culture testing for MRSA

Treatment:
Cleft palate repair, jaw distractions, tongue lip adhesion surgery, g-tube placement, possible tracheostomy, special bottles, therapy

Resources:
Unknown

Personal Story:
This is the story of our warrior that stole my heart the second she was born. My entire pregnancy with our daughter was strange. I couldnt keep down anything including water up until the day I delivered. I actually lost 35 pounds while I was pregnant. When I was about 25 weeks pregnant we had a 3-d ultrasound done. My husband and I were both concerned with how our daughters face looked. Her chin and her neck were literally running together. We questioned the Dr who assured us that she was totally fine. He said some babies just have small jaws. Our daughter was delivered at 39 weeks and 6 days. I will never forget the look on my husbands face. The only thing he kept saying was dont look down. My husband is my rock and I have never seen sheer terror in his eyes like I did that day. Our daughter was stuggling so hard to breathe that she was almost black. A few minutes later she finally started to breath. Once we were in our room with her she continued to have episodes where she would completely stop breathing. The nurses at first said she was fine but after a few hours took her to the nursery to put her on an O2 monitor just in case. She was desating into the 40s. Three days and one google search later we found out that she had Pierre-Robin Syndrome. Her Dr had never seen it before. Our daughter was kept in PICU for two weeks and then transferred by ambulance to a differnt hospital 4 hours away that would hopefully be able to help her. She had a tongue-lip adhesion to try to improve her breathing. It was unsuccessful and she was air lifted to a hospital in NC that would hopefully be able to help her. She had her first internal jaw distraction when she was about six weeks old. Her heart rate was at almost 200 her entire hospital stay. After numerous rounds of pain meds the nurses chalked it up to maybe that was her norm. We found out the next year that her heart rate was up so high because she contracted MRSA in the hospital after her jaw distraction. The MRSA ate the entire right side of her jaw including her jaw hinge. The pressure built up in her face so much that it blew all the nerves on the right side of her face. Our daughter had a rib graft put in a few years ago to make up for her missing bone. That has since gone horribly wrong. The graft started growing exactly like a rib. It turned her jaw sideways turning her teeth with it. Due to all her jaw surgeries her jaw is also in a fixed position making it very difficult for her to talk and eat. She has had 22 surgeries about 90% of which have been on her jaw with at least 2 more years of surgery to follow. Our daughter is truly one in a million. Through it all she has dance parties in her hospital room and rides a tricycle around her hospital unit for hours. We have never met another child even remotely like her. She is our mir-RARE-cle.



Contributed by MOM Jessica Thomas

Toriello-Carey Syndrome

Overview:
Extremely rare, as of fall 2012 I was told there are only 46 world wide, living. Global delays, oral defensive, short stature, immunosuppression, cardio-facial anomalies.

Symptoms:
As above. Heart involvement, my son has repaired coarctation of the aorta, ASD, VSD, bicuspid aortic valve. Missing teeth. Agents is of the corpus callosum. Pachyderm gyri, tracheal and bronchial malacia, parychimal malacia, feeding problems, frequent infections, short stature.

Testing/Diagnosis:
None Diagnosed by symptoms

Treatment:
Early childhood interventions. Treat symptoms as they appear. Treat infections as they present. Testing as needed for new symptoms. Mostly maintainance.

Resources:
None known to me.

Personal Story:
Patrick was adopted at age 18 mos. he had a trach, g-tube, vent dependent, trach dependent. He was happy, and still is. Very tiny, weighing 12 lbs. we sought out doctors as needed, with the PCP, pulmonogoligist, and GI docs already on board. His delays became prominent as he grew. He crawled at 2yrs 8 mos. sat at 2 yrs 6 mos. walked at 4yrs 3 mos. he spoke his first word at 9 yrs. he has a fairly decent receptive language, but a very small communication language. He has a small amount of ASL that remains garbled due to his under developed fine motor skills. He has a mild to moderate hearing loss. He was home schooled through elementary school, and now attends school 2 days a week for 4 hours a day. Illness and exposure keep him from further school, and he has very low endurance. I knew from the moment I met him at age 4 months that he was my son from another mother. He smiled at me, his first ever smile, according to his nurse. He was supposed to die at or before age 1, but our God and great physician has chosen to keep him here, and this year on July 4 he will reach 20 years old. We were told that he was blind and deaf, but he sees well with glasses, and can hear us, and others if they are near him. He had cataracts removed when he was 6, and had victrectomies at age 8. He is truly a happy lovable miracle who has little trouble getting his point across. I have been unable to make contact with other families dealing with this syndrome.

Contributed by MOM Barbara