Zoraiz and Areeba From Virginia
Zoraiz was born in Virginia following an uncomplicated full-term pregnancy and c-section birth. The only notable complication was having jaundice but lots of kids have that after birth, so we didn’t think anything of it. She was drinking fine at first for a few days but stopped drinking her milk on and off, so I took her to the pediatrician. Her jaundice was bad, so she was taken back to the hospital for treatment for a few days. When we went home, she was still struggling to drink as her suction was not strong. She was also sleeping a lot more than usual. After a few weeks I took her to the pediatrician again and told them I thought something was going on. They dismissed me and said I was just a young mom and didn’t know how to raise a child. She was my first child, but I knew that something didn’t seem right. At 45 days old I took her back to the pediatrician because when I woke up in the morning, I lifted her arm, and it just flopped back down. I checked her nose, and it seemed like she was breathing but very shallow; then I noticed her lips were also bluish. The pediatrician told us to go to the hospital, so my dad came to get me, and we took her. At first, they thought she had pneumonia and inserted a breathing tube. She was there for two weeks while they were figuring out what was going on. They did an MRI of her brain and discovered atrophy and big ventricles compared to a normal child, but they still didn’t know what was causing it.
The hospital contacted Children’s in D.C for assistance. She started having seizures at that time as well, so they decided to transfer her. When we arrived at the children’s hospital we met with the genetic team where they asked us all kinds of questions and ran blood tests. She was still on the ventilator and hooked up to electrodes to monitor her seizure activity. It was a very difficult time because we were over an hour bus ride from the hospital. We finally met with the genetic doctors, and they told us she had homocystinuria caused by MTHFR. I had no idea what that was. They explained that it is very rare and only 50 or so people in the world had this disorder. They showed us the MRI and how her brain was shrinking, and her ventricles were getting bigger. They told us it was like a roller coaster that’s going down the hill and they are trying to catch it before it reaches the bottom. That was really hard to hear about your child.
We stated to give her medication through an NG tube, and she started to show slow progress. I remember signing this waiver to take her off the ventilator because she was on it for two months. It stated that she could die if we took her off and that was hard. They asked me if I wanted to send her to a facility to take care of her, but I wanted her home with me. She stayed in the NICU while I learned to place an NG tube and administer her medication. We finally came home with lots of equipment. I never knew so many things existed to help my daughter stay alive. A VP shunt was eventually placed as she had hydrocephalus. They told me her prognosis was around six months and that she could pass away in her sleep or have a stroke. I understood what could happen but knew she would be ok as long as she was with me.
About a year later we had our second daughter, Areeba. My geneticist from Children’s gave me a letter to instruct the doctors to run blood work as soon as she was born. Unfortunately, she had the same gene mutation as her homocysteine level at birth was around 300. They quickly transferred her to the NICU, and she was there for a few weeks while we began medication and lowered her homocysteine levels.
Just like that I came home and had two kids on NG tubes taking the same medications. Areeba did much better, although did still have some delays. She started crawling at 8 months and walking when she was 2. She received OT, PT and early intervention. She was delayed but not as significantly as Zoriaz. Zoraiz started walking at the age of 12 because we never gave up. She also received Speech, OT and PT services.
Zoriaz is now 19 and Areeba is 18. Areeba still doesn’t talk but she has a talker and had an IEP in school. She is developmentally around the age of a 6- or 7-year-old. I see the difference between the two sisters and know that Zoriaz struggles more than Areeba because it took the doctors so long to figure out what was wrong.
I am so grateful for the team of doctors at Children’s who have been so supportive and helpful with my kids on this journey. It’s been difficult this past year as Zoraiz is in a lot of pain and is bedridden. We have been in and out of the hospital every 2-3 weeks for the past year. I just want her to be comfortable. It is amazing that she has fought for 19 years and exceeded every expectation. I couldn’t ask for more from her. She’s a fighter and she taught me to be who I became. I never thought I would be this strong.
