Heather and Joe Monica loved having a huge family! Their dreams were all about having lots of kids. In 1999, they prepared for a beautiful baby girl, Kylie. They had 3 births already under their belt and were ready! As soon as she was born, she was whisked away and panic set in for the Monicas. Something was wrong. Here are a list of some of his personal symptoms and a brief version of the path he took to get a final diagnosis.
Some of the symptoms he showed over time:
- Kylie was born with a very low birth weight for a full-term baby, only 5 lbs.
- She was born with a bone missing in her right thumb and a cleft pallet. The roof of her mouth wasn’t there. – the doctors ran a 22 Deletion Syndrome Test to see if she had any part of her 22nd chromosome missing which can cause developmental delays. The test came back negative leaving them all to wonder what happened.
- Turned blue, eyes rolled back into head and she turned blue as soon as Heather started to breast feed her.- the doctors put her into the neonatal unit and continued running tests.
- Kylie struggled and gasped to breathe daily. She was so unstable. The parents prepared to deal with her death. – doctors determined she had a ASD, Atrial Septal Defect which is basically a whole in the heart. She needed to be 10 lbs to have surgery.
- Doctors informed parents they could do the same thing for Kylie at home as they were doing at the hospital. She was discharged. She continued to get sicker each day. Her breathing was horrible. She as just deteriorating.
- At 10 months old, her monitor was alarming. Heather rushed her to the hospital and Kylie was admitted to pediatric ICU.- the doctors couldn’t stabilize her and took her to the operating room to give her a tracheotomy. The doctor came out and informed the parents that Kylie had congestive heart failure and her heart was not pumping enough blood to her heart causing a build up of fluid in the lungs making it impossible to breathe. They didn’t think she would make it through the night.
- By morning, she looked better and her lungs looked clearer.
- A doctor who specialized in genetics looked at Kylie and believed the parents needed to see a hematologist doctor, Jeffery M. Lipton, MD, PhD, who specialized in blood. – Kylie was transferred to Cohen Children’s Medical Center in NY.
- Dr. Lipton did a bone marrow biopsy. – the results showed there were no red blood cells. That with the the abnormalities made it clear to Dr. Lipton.
Final Diagnosis:
- DBA, Diamond Blackfan Anemia- in healthy people, bone marrow produces red blood cells that carry oxygen to different parts of our body. In Kylie, a genetic mutation caused her marrow to malfunction and not produce enough red blood cells.
What is ahead for her:
- All defects are a direct result of DBA, including the hole in her heart.
- Transfusions were given every 3 weeks and she continued to get them for 18 months.
- Once strong enough, she was given corrective surgery for her thumb, cleft pallet and the hole in her heart.
- She was still weak from the transfusions and needed a bone marrow transplant. She needed an exact match sibling. No one matched.
- They got pregnant and the baby, Jordan, was the perfect match. She saved Kylie’s life.
- Only 20 to 50 kids are born each year with this disease in North America.
Kylie is now healthy and happy. She dreams of one day growing up to be a nurse. She hopes to be able to help others, although she is already helping her family by being a true inspiration and hero.