Alexander

Age: 5 years old today!! Happy Birthday Alexander! (Birthdate: March 23rd)
Duplication: 4p16.316.1(x3), 8p23.3p23.1(x1) 
Lives in: Michigan, USA

Alexander Xavier Hintz is our unique, incredible child. He's our inspiration and our hero. Alex will be 5 years old on March 23rd. We are so honored to share his story with everyone.
Our family includes myself/mom (Lisa), dad (Tom), Alex, and our 2 daughters, Hailey (12) & Payton (13). Our girls have been through so much since Alex was born, but they love their little brother and are amazing with him. They are very involved with everything that Alex goes through. They love to brag about him to everyone, and they help to inform and educate people about Alex and other special needs children. We are so proud of them for these things and for how well they've handled everything, especially all the changes and sacrifices that we have to make to accommodate Alex.

Our family doesn't end there. We have a very big, blended family. We have 7 grown children and 12 grandchildren. Alex also has his grandparents and many other family members & friends that are very involved in his life. Everyone is very accepting of Alex, his challenges, and his differences. They all love him and support him. Alex has changed all of our lives in a positive way.

 
Alex was diagnosed with his chromosome disorder at 2 months old. The doctors ordered the genetic testing due to his ears being low set. Alex's karyotype is:
46xy, der(8)t(4;8)(p16.1,p23.1)dn
Also written as:
4p16.3p16.1(x3), 8p23.3p23.1(x1)
But to simplify all of that he has a duplication of chromosome 4 and a partial deletion of chromosome 8 (Or an unbalanced translocation of 4p;8p). There are so many ways to word it and honestly all of the details of the genetics side are still a little confusing to us.
When Alex was diagnosed with his chromosome disorder the doctors couldn't give us any information on his karyotype. We were left in the dark with so many questions and no answers. It was very difficult to understand because at that time he was on track developmentally and his health was good. The doctors told us he could live a normal life, or he may not have a long life expectancy, or every possibility in between. They were no help. That's when we began our search for information and answers.
Eventually I came across the facebook group for 4p+ and it was like a wealth of information was right at our fingertips! We found families whose children have the same karyotype as Alex and families with similar karyotypes. This was the first time we didn't feel alone with Alex. There were other families who understood what we were going through. It's truly been a blessing to be a part of the 4p+ family.

We live in Michigan, and there are a few other families here with 4p+ kids. It's not common to have 4p+ families live so close. Of all of the 4p+ kids there are around 12 or 13 that we know of that have the same exact karyotype as Alex. It's rare to find kids with this exact karyotype. We're so grateful to everyone in our 4p+ family for how much they've helped us through everything, even just helping us get through the tough days! There are so many similarities between all of our children and we go to each other for help and advice, as the doctors don't know much about our kids and are of little help with many of the questions we have. 
Between 6 to 12 months is when we really started noticing Alex's differences. He started to become delayed in all developmental areas and we started on the long journey with physical therapy (PT) & occupational therapy (OT). He also began the early on program through the Intermediate School District, which is for special needs children. He continues there now and we're also waiting to get him into speech therapy (ST.).

Just before Alex turned 1 he was hospitalized for RSV. It was at that time we were finally able to get a doctor to "humor" us and order a sleep study to check for sleep apnea. They didn't believe he had it, but after we pushed for the test for so long they finally gave in. When the results came back the pediatric ENT that ordered it said he wasn't comfortable treating Alex because his obstructive sleep apnea (OSA) was so severe. They sent us to another specialist, who again was no help. We continued our search for doctors who could actually help us and who have dealt with children similar to Alex. Eventually we ended up at the Children's hospital of Michigan, which is where we continue to take Alex for all of his specialists and medical needs. They've helped us so much and we love the care we receive there.
Alex started having partial seizures just before he turned 2. He was diagnosed with epilepsy and was put on meds. The doctors ordered an MRI of his brain for this and for his delayed development, just to make sure there was nothing going on with his brain that we needed to know. The MRI was done on April 20, 2012, just after he turned 2. That's the day our lives were turned upside down. 

That day will always be burned in my mind. Instead of waiting the normal 1-2 weeks for the MRI results, there were about 6 doctors waiting for us in the recovery room after the test. They found a tumor on Alex's skull going into his brain. He was immediately scheduled for a craniotomy (brain surgery). After the agonizing wait for the pathology results, Alex was diagnosed with a malignant tumor, Ewing's Sarcoma.
During his treatment we lived at the hospital nearly the entire time. He went through so much, including chemo, taking numerous meds, dozens of tests, and several surgeries. After 13 long, torturous months he won the battle, against all the odds stacked against him. He beat the monster. Alex has been in remission since May 23, 2013. 

During the time Alex was sick he fell even further behind developmentally. He also stopped eating and had to have a Gtube placed. He was put in feeding therapy along with his OT & PT. He's worked very hard and has made tremendous progress since he's been in remission.
Alex is the only 4p+ child to have had cancer. Between the cancer and his chromosome disorder there are no children known or documented with both, except for Alex. His tumor being located on his skull again put Alex in another rare group, there are few other documented cases of children with Ewing's Sarcoma located in the skull, as young as he was (typically it's found in 10-20 year olds in their legs). 

Alex is a fighter and has been through so much in his 5 years, more than most people go through in their lifetime. He's had 18 surgeries so far. He's also had numerous tests done (almost all under anesthesia) including: dozens of MRIs, CT scans, PET scans, EEGs, ultrasounds, X-rays, heart echoes, EKGs, endoscopy's, colonoscopies, bone marrow biopsies, lumbar punctures (spinal taps), and many more.
Alex has many health conditions. He was diagnosed with the partial seizures (epilepsy) and is almost 2 years seizure free now. He also has the severe obstructive sleep apnea (he sleeps in an oxygen tent), asthma, reflux, eczema (along with extremely sensitive skin), narrow ear canals & nasal passages, mild hearing loss, nutritional deficiencies, hypotonia (low muscle tone), hyper-flexed left foot, and more. He's worn AFOs and night splints (braces on his legs & feet) most of his life. He takes numerous medications every day for his medical conditions. He still has his Gtube, but can now eat and drink orally, so it's mainly used for meds. 

Currently, Alex is developmentally delayed to about 2-3 years in most areas, and speech delayed to approximately 12 months. He also has sensory processing disorder. These things make every day life for Alex very difficult. He knows about 20 signs, and has his own ways to communicate, which helps, but he still gets very frustrated when he can't tell you what he wants or how he feels. 

The doctors try to set limitations on Alex, but he likes to prove them wrong. One example is when they told us he wouldn't walk until 4-5 years old, he started walking at 22 months. They're also not very optimistic about him potty training any time soon, but we continue to try and we know the he'll do it when he's ready. 

Everyday life can be challenging for us to keep up with, but we do our best to give Alex the best life we possibly can. Our days our filled with appointments, therapies, and chaos. But we push forward each and every day because Alex deserves it. We want him to reach his full potential and have the best quality of life possible. He's beat the odds many times, he's our miracle child.
Through it all Alex is a very happy little boy. He's always smiling and he has a laugh that's infectious and can turn anyone's bad day around. He gives the best hugs and kisses and he loves attention. He favorite things are trains, cars, and trucks. He also loves his books and playing outside.

Our goal is to spread awareness about children like Alex. We hope for more compassion, understanding, and acceptance for all those who are different. Many people are quick to judge, are intimidated, or don't have patience when dealing with special needs children. But if you take the time to truly see how amazing these kids are it can change your whole outlook on life.
If you would like to follow Alex's story we have a facebook page for him, Alexander's Battle. Alex has many followers and supporters, he has touched many lives and been an inspiration to so many. Thank you for taking the time to read about our Alex, we're honored to share his story!