Lauren
by Beth Kurtz
Lauren was diagnosed with SMS at 14 months of age. Although it seemed to me like a long road traveled to finally put a name to some of things she was having difficulty in with development, I know the road we traveled was not as long as others have. I feel fortunate at this time to have had her diagnosed at an early age.
Lauren is a twin and was born 6 weeks early. I didn't get to see her immediately after birth since they took both babies to the NICU for evaluation of their respiratory status. When I finally did see her for the first time I commented to my husband that she reminded me of a Down's baby. She was in the NICU at the hospital where I worked and I never said this to any of my co-workers. I guess in my mind I didn't want someone to confirm my suspicion that something wasn't quite right. Her low muscle tone, tongue thrust, and facial appearance was what made me say that. Every time I questioned the doctors about something, they said "it's a preemie thing". Over the next few months we noticed that Lauren wasn't developing as quickly as her brother and just didn't seem aware of her surroundings like he was. Since birth Lauren's eyes wandered all over the place. The NICU doctors told me this was very common for premature babies and if it didn't correct itself by 5 months of age we should have it checked at that time.
At 4 months of age I noticed that when Lauren looked up, her eyes "jumped up and down". I took her to a pediatric ophthamologist & she was eventually referred for an MRI to r/o a brain tumor. I was petrified. The results of her MRI showed enlarged ventricles and atrophy of the brain. We were then referred to a neurologist who told us that usually kids with atrophy were affected by a viral infection in utero, but that couldn't be the case with Lauren because her brother wasn't affected. I asked for a copy of the report & when it arrived I noticed that they had her age wrong and her head circumference plotted wrong. I called the neurologist and he said this wouldn't make much of a difference, so I took his word for it and started looking up information on causes of atrophy of the brain. At our next visit I kept handing the neurologist articles I collected about atrophy asking if this could be a cause.......or this........or this......or this. I didn't realize that everything I was showing him had a genetic link. He referred us to a geneticist, but told me he really didn't think anything would show up, but he felt it was worth it to just "cross it off our list". I didn't rush to make the appointment because I felt like he was just passing the buck. We were tired of going to different doctors and I didn't want to add another one to our list. We saw the geneticist, had blood work done, and a few weeks later we found our answer.
I wasn't happy with the answer of course. I don't think anyone is happy to find
out their child has a chromosome abnormality. The good news, however, was that
we had an answer. We found out the cause for her delays and were able to now
target areas where she was at risk. We had been fighting to get speech therapy
for Lauren and just got it started a few weeks before her first birthday. Once
we got the diagnosis, we were able to add another day of speech.
It is very difficult reading all the information about Smith Magenis Syndrome when your child is very young. I felt like all my hopes and dreams for my daughter had been shattered. Looking back, I am happy we got the diagnosis when we did because now we are more educated about the types of therapies that work for children with SMS and what to look out for in terms of behavior. We also learned of medical conditions that we needed to rule out. We had several tests done after the diagnosis to rule out malformations/deformities that are common to children with SMS.
I think the most inspirational thing for me is a poem someone posted on the SMS listserv: "Welcome to Holland" by Emily Perl Kingsley. Once in a while I feel myself going through the stages of grief again and taking a ride on an "emotional roller coaster". Having a child with SMS is a challenge, but it also has its rewards. I've learned to slow down in life and try to take one day at a time. This was never an easy thing for me, but it's getting better. Every now and then I have to take two steps back to remind myself of this and look at the progress my daughter has made. This is what keeps me going.
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