Rare Genetic Disorder
Today’s Micro Preemie Monday story is a little different. Not only did this sweet preemie have to fight to survive an early birth, and all the complications that come with that, but it is now known that he is also fighting a rare genetic disorder.
His mother, Jenevieve, reached out to me in order to share her son Matthew’s story. It is such a rare genetic disorder that spreading awareness is so very important. Not only might it help Matthew, but any others out there that might have this disorder. It is very hard to diagnose, so we’re hoping this will help others who are struggling.
Please meet Matthew, as told by his Mother, Jenevieve.
Matthew
Matthew was born March 15, 2016, in Louisville KY. At 28 weeks gestation, weighing only 1 lb 2 oz (500 g) and 10 1/2 inches long. He was severely IUGR.
During Matthew’s 98 day NICU stay, we had a lot of up and downs. A lot of close calls and bad days. We lost count of blood transfusions needed. He had seven hour surgery at only two pounds. Matthew never gave up, and he kept fighting.
But, the hospital could not figure out why they could not get Matthew to grow as expected. They ran test after test and lab after lab. His diet needs were changed to a very high calorie diet, but he was still very far behind.
He took his first bottle at two pounds. In a big boy bed at two pounds, he was finally able to take baths. Doctors were not sure what was going on. Even though they were very nervous to send Matthew home under 3 lbs in a car bed, they knew it was the best choice for Matthew because of what they found.
Before our discharge, they told us that Matthew’s brain had quit growing and Matthew would not be expected to live very long and with ” no value of life”. Matthew was having non-clinical seizures in his brain. We were crushed and could not understand. Our baby was doing everything he should have, but he was just small! How would we tell his two older brothers!!
Discharge and a Diagnosis
Upon discharge, the doctors had a children’s hospice group contact us to be there for us with our child. We were ready to make our shortened time with our son the best. We would not know that when we went to sleep, if my son would still be with us in the morning.
Two and half LONG months, we finally received a phone call regarding one of Matthew’s tests that just came in. We had a diagnosis!!!
Matthew was diagnosed with MOPDII, a very rare form of Primordial Dwarfism. This rare genetic disorder is only to be known to affect 50 children/adults in the world.
We could not believe we had some type of news, but it left us with a lot of questions. Of course Google didn’t have much with such a rare disorder. Our doctors here in KY immediately requested we go to Delaware to see a doctor that founded the name and group for these children and adults.
Finally, More Answers
With Matthew at six months old, we were finally going to learn about our baby. We really knew nothing about him. We went to Delaware for a week, found a lot of interesting information on Matthew, but at the same time got terrible news once again.
Matthew had already had 3 strokes that showed on his brain. This meant that Matthew desperately needed to go to California. He had the start of a really rare brain diagnosis called Moya Moya disease. This means the blood vessels in his head that go to his brain are narrowing and closing off. This causes lack of blood flow to the brain, which in turn causes strokes. The only doctor in the United States that can perform the life-saving surgery Matthew needs is at Stanford University.
We have his surgeries scheduled in October and then another the first week of November. His father and I are missing a lot of work due to travel to provide Matthew with his only options and life saving medical care. Matthew is almost 7 months now weighing 3 lbs 11 oz and 15 inches long. He is mistaken for a baby doll everyday.
You can continue to follow along on Matthew’s Journey on his FB page by clicking HERE. His family has also set up a Go Fund Me Page to help with Travel and Medical Expenses, which can be found HERE.
I will also continue to update you on his progress, here on the blog.
Thank you so much to Jenevieve for sharing precious Matthew with us. Please leave any supportive comments for him and his entire family below.
Wow – thank you for sharing this family’s powerful story. I haven’t heard of this before either. Will definitely be following the progress of how Matthew is doing
Thank you for following. Yes it has been a stressful and amazing journey were just getting started
Sweet little man! Keep fighting little guy!
I’ve never heard of that before. Thank you for bringing awareness! Such a precious little guy and I pray strength for him as he keeps fighting the good fight.
Wow! What a fighter. I admire his mom’s courage. This can’t be easy on her or her family. Praying for them all.
No it has not been easy at all, but Matthew has never stopped fighting thank you for the prayers
With Only 50 children/ adults diagnosed Im sure many people don’t know about this disease, myself included. I’m glad you are sharing this story to raise awareness! My prayers go out to this family.
Thank you for sharing your family’s story!
Very welcome
Oh man, I know what that’s like: finally a diagnosis! Fortunately, we didn’t have to wait that long, but the waiting for the diagnosis and then to see if he would survive surgery. Argh. Prayers for this family. This is so stressful.
Thank you for the prayers. It seemed like forever for something about Matthew, he has been one of quickest diagnosis for this syndrome because it just got its name 2008. Which is hard for us as parents and scary to know that doctors are still learning we are hanging on and standing tall. Follow his journey
What an absolutely incredible story. I’m honored to share a birthday with this amazing little man!
Thank you very much !!!
What a precious little guy! Praying for this sweet family.
Ughhhhh What a story!!! On the upside it must be nice to know what’s finally going on. Keep on fighting little one.
I must say I love your blog. On a bad day when I’m feeling very woe is me, I read your amazing stories of families with real problems and the struggles to overcome. Keep posting. It makes me a better person.
Awe. Thank you so much Elizabeth. I appreciate that.
Such a sweet little fighter! Sending positive thoughts for the upcoming surgeries.
This is something I’d never heard of and so glad you’re sharing the awareness of it. Kia kaha (stay strong) lil man
I am glad you got some answers for this cute little boy. I know there are still mountains to climb. Wishing you the best!
Prays to this family! Keep up the fight!
I’m glad they found this sweet boy a diagnosis. Every time I read your articles, my eyes are opened to all the challenges and miracles that happen in the story of life. Bless this little soul. Keeping his family in my prayers.
Thank you very much
It is wonderful that you are sharing this families story and bringing awareness to Matthews rare condition! Way to go mama!
Aw what a sweet little guy he is! So glad he beat the odds!
I have been following this series for sometime and every time it forms a knot in my heart. I think I have become more sensitive after becoming a mother.
Mathew is in my prayers. I wish the parents strength and peace
He is such a miracle. Thank you for sharing his story!