We are the Buchholz family and here is how our 22q journey began. We have three children and our youngest daughter is Kristina. She is now twenty-eight years old, currently in college majoring in Psychology, a baton twirling coach (as well as competing herself), and is so blessed for the opportunity to be the Social Media Intern for The 22q Family Foundation. Kristina's siblings don't have much medical background but both deal with asthma and are both very successful and determined individuals, as well as being great supporters for their little sister and encouraging her every step of the way!

Our familiy's world collided with the medical world shortly after she was born and the mysterious illnesses that occurred throughout her childhood left doctors with no answers. Some of those challenges were feeding issues, where she would turn blue in her face, start chocking immediately after eating and unable to breathe.  Finally they were able to find out there was an opening in the back of her throat that thankfully closed itself. Battling various health issues like frequent colds, multiple ear infections, having two sets of tubes put into her ears, and pneumonia a few times, as well as the fact that she wasn't very social, and had learning disabilities specifically in math and reading. Fast forward to age twelve, where things started to take a turn for the worse. Kristina ended up having her first Grand Mal seizure and results from the millions of tests kept resulting in her calcium levels being low.  She was then diagnosed with Hypoparathyroidism and Hypocalcemia.

Everything had finally settled down with Kristina's health and as a family, we were able to go back to our daily routines. Two years later to the exact day Kristina had her second Grand Mal seizure landing us back in the hospital for another week running tests, but no reasoning as to why this seizure happened. When she was fifteen, her third Grand Mal seizure occurred, landing us back in the hospital but, a neonatal doctor on staff at Boca Regional Hospital had said to us "I know she is pretty old to be diagnosed with this but, based on her medical history, I would like to get the FISH study test to see if she by any chance would have DiGeorge Syndrome." Sure enough results came back positive therefore, diagnosing her at age fifteen with 22q11.2 Deletion Syndrome, which the doctors still called DiGeorge Syndrome. I know we are thankful for this doctor because he put a minor end to our confusion but, started a long chaotic road and it was just the beginning.

Today, nearly every system in Kristina's body is affected one way or another, the worst being her kidney's. For the first six years of our families 22q journey, we knew not one other 22q family. Thankfully, God continues to bless us with amazing family and friends, especially our church families who continue to be one of our greatest support systems to this day. They've encouraged us, motivate us, and keep our faith strong with their love, support, and prayers and friendships.  Just being on this journey with our family while blessing us every step of the way means more to us than we could ever express to them and we thank them from the bottom of our hearts! Our family has always had a strong faith, and Kristina's faith alone is very strong. She believes and stands on God's promises both in good and bad times. Leaning on two of her life verses Jeremiah 29:11 "For I know the plans I have for you declares the LORD plans to prosper you and not to harm you, plans to give you a hope and a future." and Philippians 4:13 "I can do all things through Christ who strengthens me." Whenever Kristina shares her story she states "My health is the greatest challenge in my life, but its also the greatest blessing in my life."  We know she would want us to share her statement here too!

The very first time we met another 22q family let us say in agreement it was a LIFE CHANGER! The hope, and inspiration it brought us knowing we truly weren't alone and that there are others out there who "get it" brought us a sense of peace. We have enjoyed connecting with others from around the world, having get togethers, just laughing and sometimes crying, and watching these warriors grow into inspiring adults. We also love the love and support we share throughout this family, our worldwide 22q family, and it means so much to us and we are thankful to be apart of such a amazing family! Today, Kristina is thriving but one of her greatest obstacles she has with 22q is not being able to drive due to her multiple seizure disorders.  It's a difficult reality for her to face on a day to day basis, but collectively as a family we are able to always make things work out and we are very thankful to live in a place with decent public transportation. Praise God for UBER! Kristina's biggest accomplishments would have to be becoming a motivational speaker and traveling the country sharing her journey, as growing up she wasn't very social. We thank you for taking the time to come along the brief version of our 22q journey.

-The Buchholz Family

Email: kristinabuchholz@hotmail.com

Facebook: Kristina Buchholz

Instagram: kristinabuchholz