Matthew is the youngest of our three boys. He has been diagnosed with Mitochondrial Disorder Complex I and III, Chronic Intestinal Pseudo Obstruction, FTT and Glucose Intolerance. He has been through countless tests and procedures in the past 8 years . We do not know what the future holds for him, but we are going to do our best to cherish every day with him. Stay strong little man.
Sunday, February 23, 2014
It's the end of Winter break for Matthew. Back to school for him tomorrow. It was a low key break we didn't do a whole lot as the weather wasn't the best. We did go see the Ice Castle in Saranac Lake and then did some shopping in Lake Placid. The theme for this year's Castle was Celtic.
Matthew attended a one hour archery class this week. Our town Rec Dept held classes at Gander Mountain and had an instructor come teach the proper way to shoot a bow. Matthew had a good time, his bow had to be adjusted to the lowest settings but with some extra help he was able to draw it back and pop a few balloons.
Matthew gave us quite a scare on Thursday as he snuck a Reeses Peanut Butter heart from one of his brother's room. Matthew has a nut allergy (not necessarily Peanut Butter) and he told us right away what happened because he was having trouble swallowing and his stomach was hurting. At no time did he have any swelling, hives or trouble breathing so we didn't have to use his Epi-Pen. We gave him Benadryl and syringed the candy from his stomach (Gtube really came in handy there). Terry brought him to the Emergency Room as a precaution. He was checked out and everything was ok. Terry was told that since we reacted so quickly that we probably avoided a more serious reaction. We had to watch him closely for the next few hours just to be on the safe side. It was a close call but he is fine.
Matthew was able to go outside twice and play in the snow for the first time this winter. It's been too cold for him, many days we've had negative temperatures as our high temps for the day. He built a snowman complete with Gtube and an ostomy (his ideas but my muscles lol) . He named him Super Snowman Sam. Even though he was outside for a short time and bundled up, Matthew didn't do well being outside. Both times , he came in shaky and dizzy. It took a lot out of him but he enjoyed playing in the snow.
On the medical side we went to Boston and saw Matthew's Metabolic doctor on the 13th. Steven was also seen because of his issues that he had in the fall. Steven had some labs drawn and we should get the results sometime this week.
We saw a Fellow who is a Pediatric Neurologist who is training in Metabolism/Genetics with an interest in Mitochondrial Disorders.He examined Matthew first and then Matthew's doctor, Dr. B. came in. He was pleased with how Matthew was doing with his feeds and then we talked some about the testing we are waiting to come back and what to do next if the testing doesn't show anything. He has been trying to determine if there is a genetic cause for Matthew's condition.
We got an email from the NP that works with Dr. B that they may have found something in his bloodwork from 2010. Matthew has a deletion in one of his chromosomes, 3q29. What this means is part of this chromosome is missing. At the time they didn't think it was important because Terry has the same deletion(we were both tested). However, the Fellow found that there is a type of specific type of Mitochondrial Disease associated with this chromosome being defective called Optic Atrophy 1. Since Matthew has the known abnormality in this chromosome and has many of the symptoms this could, I'm stressing could, be the cause of his illness. There are two copies of each chromosome in your body. They need to test the second copy of the 3q29 chromosome to see if has any mutations or deletions. If it does then this is the likely cause of Matthew's Mitochondrial disease. That means Matthew was born with these abnormalities and didn't get it from an illness which can sometimes cause Mito disorders. If this is confirmed we were told that at this point it wouldn't change Matthew's treatment. However, this could lead to a new treatment or medicine.
Posted by nyveggie at Sunday, February 23, 2014
Sunday, February 2, 2014
Matthew had a very busy weekend.
- Friday night he saw his favorite band, Glengarry Bhoys perform at Olive Ridleys. His friend Lily and her brother Jack were also there. He danced, sang and hung out with his friends. http://youtu.be/6MXraHwNWok
-Saturday, Matthew attended Snowball: A Celebration of Winter in the North Country .He caught the "golden snowball" (a gold soft ball) thrown by our city Mayor. He was not a fan of being outside in the cold, but was a trooper about it. We didn't stay long, but at 35 degrees, I believe the rest of the community was thinking it was a heat wave.
Matthew also had a photo session done by a local photographer, Ken Brodeur. He approached us a few weeks back at the Make a Wish Bridal show and asked if we minded if he did a photo shoot of Matthew at his studio. Matthew loves to have his picture taken, so we agreed. He did a wonderful job. You can check out the proofs here: http://www.kenbrodeur.com/matthew
Since yesterday afternoon, Matthew has been on the couch just relaxing and recharging.
Check out some of the new video links and pictures I have added.
http://youtu.be/7uxXs3BZvog Matthew talking about how his doll "Pancakes" broke his leg
http://youtu.be/HngTiAw3Y1M Matthew singing
Posted by nyveggie at Sunday, February 02, 2014