Tuesday, January 26, 2010

Riley and Rachel's Congenital CMV Story

We learned that I was pregnant early in January of 2003 and had an early ultrasound to verify how far along I was. We learned at this 7 week ultrasound that we were expecting twins! We cried the whole way home and worried about how we would manage to handle our son, who was 16 months old, and 2 infants.

My pregnancy was immediately categorized as high-risk and I routinely saw my obstetrician as well as a perinatologist (an OB who specializes in high-risk pregnancies and deliveries). I received ultrasounds on a regular basis to chart the twins growth, and we found out at 11 weeks that we were expecting girls!

At one of my ultrasounds at about 18 weeks, brain abnormalities were noticed on "twin B" (Rachel) and excess fluid was building up within her ventricles, causing them to be enlarged. This was cause for immediate concern and I received an amniocentisis. My amnio ruled out any genetic causes but I was still advised to terminate the pregnancy. We elected to continue the pregnancy, measuring the fluid and monitoring Rachel's growth.

After being on bedrest since 21 weeks, I went to the hospital on the evening of August 8th. I was dilated to 4cm and was monitored overnight. The next morning, my OB decided to help me along and induce. My bloodwork was completed, IV inserted, epidural given, and then my water broke on its own. I was given pitocin when labor did not progress and then, upon examination, we found more water bags...my OB broke them and then things moved very fast. I dilated quickly to 10cm and, at 6pm that evening, I was wheeled into the surgery room in case of C-section.

My OB looked at the girls on ultrasound and discovered that Riley was engaged at +1, and that Rachel had gone breech. I began pushing at 6:25pm and Riley arrived quickly with a few pushes at 6:27pm. She let out a few cries and Daddy actually got to cut the REAL cord! My OB checked on ultrasound to see if Rachel had changed position and she was immediately engaged and coming down. She came four minutes after her sister, with minimal pushing, at 6:31pm.

Both girls were doing fine and were eventually breathing on their own and crying. Riley spent 6 hours in the NICU getting stabilized and spent her first night snuggled with me in the hospital bed. Rachel remained in the NICU and was taken off of IV fluid on her second day and began taking a bottle, working on getting her suction motion down. She was eventually able to stabilize her body temperature and drink a bottle well, and was discharged from the NICU at 3 pounds 13 ounces, on August 16th, a week after she was born.

While in the NICU, Rachel was observed to have Microcephaly, meaning "small head/small brain", and had an immediate MRI. Her MRI showed severe brain damage and a virus called CMV was suspected as the cause. Labwork was performed on Rachel and the following Tuesday, we learned that Rachel tested positive for CMV exposure in utero, which meant she was born with congenital CMV and that I had contracted the virus early in my pregnancy. We were told by the Neonatologist that there was a 90 percent chance that Rachel would be severely retarded or die. We were destroyed and came to learn that we knew NOTHING about this new word that was about to rule our life. We were told that we would have to keep Rachel separate from Riley and Garrett, that Rachel and Riley couldn't share towels, burp rags, pacifiers, etc. After further consultation with an Infectious Disease specialist, this advice was deemed unfounded and we were excited to learn that our girls could interact together safely, and with the rest of our family.

On the day of Rachel's discharge from the NICU, we were excited and went in to have our transition meetings. When we arrived, we were told that Riley's earlier test results showed that she, too, had been exposed to CMV in utero and they ordered an immediate CAT scan. Again, we were terrified because we had hoped to have at least one healthy twin.

Riley's scans showed calcifications/scar tissues in her brain that were charateristic of the CMV virus. We were told that Riley would most likely have a more positive outcome than Rachel but would also be at risk for the same problems, namely deafness, blindness, physical and mental retardation, cerebral palsy, and even death. Needless to say, that was the worst week of our life. Our family decided THAT DAY that our main concern was to give the twins (and our son, of course) everything that we could for however long we may have them and to love them for whatever and whoever they are, not what they aren't.

We were advised by our pediatrician and other Infectious Disease specialists to not use Gancyclovir on the girls after birth but still wanted to investigate further and find out our options. We spent a day at the ID department at UCLA with a doctor there who provided us very little reassuring information and seemed to not know very much about Gancyclovir which didn't really give us much confidence. When we asked if both girls should receive infusion or if just one of them (and which one), she had no answer. We elected not to do Gancyclovir and ended up having positive viral load draws when the girls were 3 months old so while we did not go the conventional route, we feel that things still went VERY well given the initial outcome.

The girls turned 6 in August of 2009 and, in many ways, we have two little girls with very different CMV outcomes but noted to be severe by their specialists.

Riley has calcifications on her brain and also has cerebral palsy. She is spastic quadriplegic, has received numerous botox injections and had muscle lengthening surgery for her hamstrings and inner thighs. She has found her ability to roll, prop herself up and tolerates positioning well. When we got her first gait trainer a couple of years ago, she immediately bolted for the front door and then to my purse. Many cylinders are firing on Riley, but we still have setbacks. Riley is profoundly deaf to 120 db, doesn't test well with hearing aids, was declined for a cochlear implant but has no vision impairment. Riley feeds herself from a bottle or sippy cup and has grown to tolerate more table foods. This last summer, I was able to make great progress in potty training Riley and she probably could stop wearing diapers if I trusted her just a little more. She is a hit both in her SH classroom and at playgroups and has many "healthy" friends her age who love to include her in play.

Rachel is my more severely impacted twin. Rachel has profound microcephaly and cerebral palsy as well. She is also spastic quadriplegic and had a dual hip resectioning performed in November of 2006, two weeks before I gave birth to her little brother. Rachel was also diagnosed in December of 2008 with Osteopinnia and needs to be measured regularly to detect possible fractures. Rachel is globally delayed and tests at about a 3 month level. She is also profoundly deaf to 120 db and has vision impairment, but has very cute glasses that she loves to wear. She is G-tube fed and had nissen fundoplication performed in the spring of 2008 but recently broke through it and continues vomitting. Rachel has fortunately fought off pneumonias in the past but has incredible difficulty in breathing. She has seizure disorder which has been well controlled and monitored over the years. Like her sister, Rachel has also developed quite a following in our community and has many little friends who love to visit, "pet" her and give her kisses.

Given Rachel's severe medical condition over the years, we made the difficult decision to place her outside of our home back in 2005. She had been in a state of medical decline for many months and we were feeling immense pressure to do our best for her and find solutions to these problems. Her specialists became uncooperative and frustrated by her symptoms and her pediatrician asked for us to remove him from her case. A wonderful teacher at the girls' special education preschool recommended to me that we place Rachel out of our home but retain all parental rights. We met with a couple of residential homes in our area that were in normal neighborhoods, run by families and nursing staff. The second one that we visited had a huge impact on me and made me feel the lightest and calmest that I had felt in months. The owner and I became immediate friends and Rachel began living there full-time in December of 2005. She shares a downstairs bedroom with another disabled little girl and they enjoy a full view of their lush, green backyard and occassionally get licked by the owner's golden retrievers. It has been the best and most wonderful arrangement for our family and I feel so blessed by having met this family and allowing them into our lives and into Rachel's life. They are so patient and gentle with her and are extremely supportive to us and our other children.

I have been so challenged but so blessed to have these sweet precious girls in my life. They have taught me so much and have humbled me far more than I ever could have imagined. While I initially wanted to eradicate the world of CMV and cause a firestorm to elicit change and raise awareness, at one point I had to be at peace with the diagnosis and my limited power in controlling what happened and what will happen from here. But I love every single day and thank God for every moment that I have with them.

2 comments:

  1. I love you Janelle and your girls! We've never met "in real life" but I think of you often! You are one of my heroes. (Don't be an asshole and argue with me, just smile and say thank you.)

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