Zellweger Baby Support Network

MEET MAKENZIE LEONHARDT

BORN December 21, 2004 an ANGEL on July 13, 2005

My name is Christy Leonhardt. My husband James and I live in Spearfish, SD, a small town in the Black Hills. We had tried for nearly two years before I finally got pregnant with our daughter Makenzie. The pregnancy went quite well... I didnТt get sick... I felt pretty good. I read all the books and did everything right. At about 35 weeks my doctor said I was measuring small, so we scheduled an ultrasound for the following week to check for growth. The ultrasound estimated that she would be about 7 ╜ lbs at birth, on the small end of normal, but still within the normal range, so no real cause for concern. I carried her full term, she was born December 21, 2004. The birth went really well, I wasnТt even sure I was in labor until my doctor checked me at my regularly scheduled appointment. I was already at 7 cm at 10:45 AM. Makenzie was born at 3:42 PM that day, with no pain relief!

Right after she came out, my doctor tried to hand her too me, but the cord was too short. Then he noticed that she was very limp, so he decided to cut the cord and get her to the warming table to get her stimulated. The nurse noticed that she had twitched a few times, like maybe she had a seizure. Her vitals were stable, but she was so limp. I kept looking around the room hoping someone would tell me that everything was OK, but no one could. They called in a doctor to check her, her heart beat was strong, she was breathing OK and after they had messed with her for a while she finally let out a weak cry. She had five fingers, five toes, but something just wasnТt quite right. She only weighed 5 lbs 15 oz and was 20 ╜ in. The doctor really didnТt tell us much, his only real concern seemed to be that they thought she had a seizure. He decided to consult with a neonatologist in Rapid City, about an hour away. The neonatologist, Dr. Benn, suggested that they transfer her there so they could monitor her. I checked myself out of the hospital (about 5 hours after giving birth) and James and I drove to Rapid City to be with our daughter. When we got to the NICU, Dr. Benn met us in the waiting room. He started asking us questions that I had never anticipated, like did you do any drugs... any family history of ...what was the pregnancy like... I felt like my daughter was sick because of something I had done. Then he said that he suspected something genetic. Genetic??

In the NICU they started her on some antibiotics, just in case it was some sort of infection. They said they would do some blood tests that would take three days and by then the antibiotics should be done. I was in complete denial. I totally thought that we would take her home by Christmas. The antibiotics would take care of whatever she had and she would be fine...

Christmas Eve (which is also JamesТ birthday) Dr. Benn reminded us that he suspected something genetic, and it had a name...Zellweger Syndrome. What?? I had never heard of such a thing. He said that it is FATAL. That wasnТt even close to what I had envisioned the worst case scenario to be. He told us that they had done many tests, MRIТs, CAT scans, ultrasounds, etc. She had an enlarged liver, renal (kidney) cysts, cyst in her brain, underdeveloped brain, large fontanel, high forehead, two septal defects in her heart, double crease in her eyelids, asymetrical ears, narrow ribcage, calcification in the patellas...The list was so long. How could so much be wrong with such a sweet, beautiful, little baby? He said they would send a blood sample to the Mayo Clinic for a very long chain fatty acid test to confirm the diagnosis. We just sat there and cried.

Makenzie was in the NICU for 10 days. We spent every day with her, driving an hour each way, back and forth. The nursing staff there was great. They let us be as involved as we wanted to in her care there. I had a great lactation consultant that was very supportive and helpful in working with Makenzie and I. She had some scary apnea spells while she was there. We had become so dependant on the monitors. She had to be in just the right position for her to breath okay. One of the nurses finally talked to us about her experience, she had lost a baby to some genetic disorder. She told us that for them, it was best to take the baby home so that he could die with his family. We definitely didnТt want her to spend her entire life in the hospital. We hoped every day that she would make enough progress to be stable enough to come home. After a few screw-ups, we finally got the results of the VLCFA test. It definitely indicated ZS. We wanted nothing more than to just go home. The nursing staff said they we should try rooming in with her in the hospital to make sure that we were comfortable with caring for her. They said that if she goes home and we needed to bring her back, she couldnТt go back to the NICU. She would have to go to the pediatric ward, which isnТt as sterile, so we needed to be sure. When Dr. Benn found out that we wanted to go home, he said he would support whatever we wanted to do. He discharged her that day. A nurse taught us how to insert her NG tube and got us set up with a few supplies. On December 31, 2004 we finally got to go home as a family. I couldnТt think of a better way to spend New YearТs Eve.

We had many struggles. Every day I wondered if it would be her last. I couldnТt sleep unless I could hear her breathing. Some nights I would just lay there with her sleeping on my chest.

Makenzie had good days and bad. On the good days she would have no seizures, or mabye just a few small ones and would seem almost happy. She made a face just like another mother had described as the Happy Face. Her eyebrows would go really high with her eyes wide open and her mouth in an o shape. Her legs would then start kicking (we called that the Happy Dance). I miss that. On the bad days it would seem like the seizures never stopped. She had times when she would scream, and I mean SCREAM. One doctor told me that ZS babies don't feel pain--I don't believe it for a minute. She seemed to get more and more alert and active until about 4 1/2 to 5 months. She even started getting better at sucking and she would tell me she was hungry. I worked with her at every feeding. I even went back to work part time, and brought her to work with me. I work in the office at a family business, my mom was there to help me. She spent most of the time on my lap at my desk.

Then it was a pretty gradual decline. I started getting more and more anxious as she approached 6 months--mainly because the doctors had told us she probably wouldn't make it that long. At about 2AM on the day she died (July 13, 2005), she started having some intestinal bleeding. I knew that was the beginning of the end, but I wasn't sure how long she had--hours, days? She peacefully took her last breath at 10:30 AM that day. We had made arrangements with the coroner's office and the funeral home before her death, that helped us a lot, just knowing what to do. We just gave a letter from her doctor to the coroner (who happened to be the same person as the funeral director), so when she died we just had to make one phone call to the coroner's office. Since they knew about Makenzie ahead of time, we got to skip the formal standard investigation.

We chose not to give her any supplementation. I pumped breast milk for her every three hours from the day after she was born until the day she died. We felt that breast milk was the best thing we could give her. We weren't interested in anything that was designed to prolong her life. We were more concerned with quality than quantity. We did finally give her phenobarbital for the seizures at about 5 months. The seizures were starting to make her cry a lot more. I'm convinced the phenobarbital was too hard on her liver and respiratory system.

I had become obsessed with protecting her from infection. These babies are so prone to pneumonia and such. They never really fully recover from such infections, it's hard enough for them to breath as it is. I would wash my hands literally 20-25 times a day. I wouldn't let anyone in the house unless they washed their hands with soap for at least 30 seconds. Makenzie never got a respiratory infection. It's especially important during the cold and flu season!

Makenzie was our only child, we do have a golden retriever that gets treated like a child. I miss being a mom. I miss the sounds she used to make. I miss her kicking legs. I miss the way she smelled. I miss holding her. I even miss changing her diapers. I donТt miss pumping, though. I donТt regret it... IТd do it again in a heart beat, but I certainly donТt miss it. I miss her belly button, it looked like a cinnamon bun! I miss her long hair. I miss her cute little hands and feet. I miss they way she would suck (she really liked daddy's little finger, but hated pacifiers). I miss my daughter.

We love you Makenzie!