Thursday, 2 June 2016

Nick Smith, A Little Man With A Giant Heart

Nick Smith is 34 inches tall which is the average size of a 2 year old toddler and he weighs 28Ibs which is 2st.

Nick maybe small due to "Majewski Osteodysplactic Primordial Dwarfism" otherwise known as MOPD 11 but he has a giant heart.

Nick's mother Shelly Smith kindly agreed to an interview with me so as to help raise awareness of Nick's condition.




An Interview With Shelly Smith:

What is your name and age?
Shelly Smith and I am 52 years old.

Did you have a normal pregnancy or were there complications?
I had some early complications and then as the pregnancy progressed we could tell his growth was slowing down.
At 28 weeks the doctors knew there were problems.
They wanted to do tests.
One of those tests caused ruptured membranes and I was put in the hospital until he was delivered at 33 weeks weighing 2lb 2oz.

Did you have a normal labour or were there complications?
I never went into labour.
The doctors felt once he was delivered he would grow.
I was given steroid shots weekly and they would test the amniotic fluids for a certain hormone the lungs produce when they are ready.
Once his lungs were developed he was delivered by C Section.
Not because of his size and health but because he was breach.

What is your son's name and age?
Nick Smith and he is 24 years old.

What type of dwarfism does he have?
MOPD II (Majewski Osteodysplactic Primordial Dwarfism. Type 2)

When was he diagnosed?
In the 90's very little was even know about this type of dwarfism.
I was told one diagnosis when he was 6 months.
I started to do my own research and saw photos of other children that I felt were more common features.
Then it wasn't until almost 10 years later we meet other families from other states and other countries.

How was a diagnosis made?
In early 2000 about 40 families took part in submitting our medical records such as birth history, growth charts, medical records that we could provide to Doctor Judith Hall.
She and other Genetic Doctors such as  Charles Scott and Dr Pauli to name a few compiled their findings and were able to publish one of the first know medical reference for MOPD.
I am proud to have taken part in a study that in the Doctor's opinion has helped increase knowledge that up til that point we didn't have.
I was able to give a copy to Nick's doctors to help with his care plan.

Did he / does he have any health concerns, if so please explain?
He had to be tube feed thru a G-tube medically placed in his belly from 6 months until he was 4 years.
We have and still do struggle with eating. Other issues are that his type of dwarfism can have bone changes.
Nick had surgery on his hip when he was 15 for a condition know as coxa vera. Then in 2005 he had surgery on his back for scoliosis.
At the age of 18 he developed kidney infections and high blood pressure.
Tests were done and several brain aneurysms were found.
He has had 3 surgeries to correct them. The last surgery was March 2016.
We are so blessed he is doing well.
We see several specialist throughout the year to help with his care.
He is stable but in 4th stage kidney failure.
He takes medication to control his high blood pressure.
Also, yearly MRI of his brain to hopefully catch and fix anymore aneurysms.  

What is his height and weight?
He is 34 inches tall
He weighs 28 pounds.

Does the dwarfism affect his mental abilities?
I wouldn't say that the dwarfism is what affected his mental abilities.
I feel being premature and medical complications did limit his abilities to some extent.
Nick may function lower than some of his primordial friends.
He can't read or write but that doesn't stop him from trying to fit in with everyone else.
He is, in his mind a child that will still grow up.
He can't always remember his correct age when you ask him but he will be quick to warm your heart with his innocence and love of the simple things in life that make him happy like spongebob square pants and super hero's and all the fun gadgets he stuffs in his pockets to surprise those who stop to say hi.
Then in the next sentence telling you he shaves and has 5 girlfriends.

Does the dwarfism affect his life span?
Sadly yes it could.
One big question we parents had in our earlier years, was we didn't know of a lot of adults.
Sadly as we have gotten older we lost many friends like Nick along the way.
In some ways it brought awareness to possible concern for Nick and the doctor has monitored his health to try and correct or address medical issues the best we can.
I am thankful that we have amazing doctors over the years who have been willing to listen to me and reach out to other experts when needed.
I pray that knowledge and continued medical technology can change this and, we will see Nick and all others into the golden years.

How is his condition managed?
I really worry about Nick's care in an emergency situation.
By law where we live, Nick's age prevents him being treated at a children's hospital and he really doesn't fit into the care of an adult, causing us to have to travel out of state to seek the care he currently needs.
We drive 6 hours several times a year to meet with Dr. Ricardo Hanel at Baptist Hospital, In Jacksonville Florida.
Dr Hanel did Nick's recent surgery in March.
The next follow-up visit is scheduled for the end of June.

Please explain in detail what the "potentials foundation" is?
Potentials foundation is a non profitable organization that was started by families and medical staff wanting to help enrich lives of those with MOPD II, I/III, Meier Gorlin, and remarkably similar but not otherwise specified primordial dwarfism by facilitating opportunities for families to meet together and provide information related to known health concerns and specialty care,  and furthering research efforts.
Research remains a primary focus and has resulted in amazing progress leading to diagnosis and proactive medical care.
Nick's participation in this organization has greatly increased his quality of care not just medically but socially.
The friends he has made are his life.
I am thankful to be apart of a group that lets me know WE are not alone and we are all here for each other.


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