Lowe Syndrome Association

A Funny Thing Happened On My Way to the Rose Garden

by Kaye McSpadden, Founder, Lowe Syndrome Association, Inc.

Any of you who have ever been around parents of handicapped children know that we love to tell our stories. We love to talk about our children and our experiences with doctors, hospitals and schools. There is a reason for this phenomenon of course: for most of us, having a child with a condition like Lowe syndrome totally turns our world upside-down, leaving a permanent and profound effect on every aspect of our lives.

The moment any parent receives the diagnosis of a disease or a disabling condition in their child is a terrible one indeed. The subsequent months of coping and adjusting are also very difficult.

The problems can be compounded, however, when the condition is a very rare one like Lowe syndrome, for two main reasons. First, information on the condition in the medical literature may be sparse or inaccurate. Doctors who are unfamiliar with the condition may have difficulty making the diagnosis and knowing about the latest treatments. Second, parents may feel very isolated and alone since they are unlikely to meet other families who have been affected by the disease.

We found these things to be true in our early experiences with our son. I would like to tell you a little bit about those experiences, not because our story is unique but because it was the birth of our son and his early life that led to the creation of the Lowe Syndrome Association.

Eight and a half years ago our son was born in Kentucky. We already had a two-year old daughter and everything seemed fine. Our little boy was a good baby; he hardly ever cried. When he was a few weeks old, however, we noticed his eyes were starting to cross. Although the pediatrician said he would grow out of it, we took Leland to an ophthalmologist a few weeks later. There, we received the first bombshell. The doctor found cataracts.

As with all parents of children with Lowe syndrome, our lives became completely entwined with hospitals and doctors. Our son was in and out of hospitals with four eye surgeries before he was a year old. Early on, the doctors had ordered some tests to see if anything else was wrong. They ruled out rubella and some other possible causes of the cataracts. It must have been something during pregnancy, they said. We started getting used to the idea of having a child who was seriously visually impaired, but otherwise okay.

When our son was about four months old, the doctors became concerned about his umle tone. Perhaps something else really was wrong. They sent us to a child evaluation center at one of the state university medical centers. There, he was given a CT scan and more blood tests.

After the results were in, we sat down with the doctor and she seemed to be very pleased. For awhile, she said, they thought our son might have Lowe syndrome some rare and very serious disease. Happily, she said, the tests showed that he did not have it. We had never heard of Lowe syndrome before and didn't give it any more thought. (Of course, we now know that some of the hallmark symptoms of Lowe syndrome don't show up in many cases until the child is seven or eight months old.) Yes, the doctor said, our son had cataracts and poor muscle tone. It must have been something during pregnancy. We started getting used to the idea that our little visually-impaired son would never be an athlete, but otherwise was okay.

Our son's last eye surgery was a muscle operation, to try to correct the crossed eyes. This was when he was about seven months old. What should have been an easy and routine procedure turned out to be the worst eye surgery of all. The ophthalmologist thought there was really something wrong with our son's muscles. He wasn't convinced we had gotten to the bottom of the problem. He referred us to yet another university medical center where Leland was seen by a neurologist.

We were admitted for a week-long evaluation during which our son was subjected to almost every painful test imaginable. He had countless blood tests, an EEG, EKG, and EMG. Leland also had a spinal tap and a muscle biopsy, which was major surgery.

What we didn't realize, of course, was that all these tests were ordered to rule out all possible causes of our son's problems. We learned later that these doctors had never treated a case of Lowe syndrome before.

By the end of the week, the only possible cause they had not been able to rule out was Lowe syndrome. Shortly thereafter, the characteristic findings in the urine showed up for the first time. The neurologist sat down with me and explained what Lowe syndrome meant. He told me that it was a serious kidney disorder that usually resulted in death by the age of two. If our son should survive past that age, he said, he would never talk or walk; he would be severely retarded. There was no treatment, nothing that could be done. fie told us to take our son home, love him, and watch him die. Finally, in a kindly but feeble attempt to offer some comfort to this totally wrecked mother, the doctor told me "Nobody ever promised you a rose garden."

I only wish he could see us now. We have certainly come a long way since that bleak day. Of course, I never expected life to be a rose garden, but today, I feel like I'm surely in one. I wish I could have known back then that we would be here with you good friends today.

The long journey that started the day we received the diagnosis and brought us to Indianapolis today actually began with a trip to Indianapolis seven years ago. After our local pediatrician learned about the diagnosis of Lowe syndrome and what we had been told, he went into action. He simply wasn't satisfied. He started calling all over the country to find someone who knew something about Lowe syndrome. He ended up scheduling an appointment for us with Dr. Wappner here at Riley Hospital.

We drove up here when our son was about a year old, with no real hopes, but we thought, what have we got to lose? After all that we'd been through, it was an amazing experience. Cheerful Dr. Wappner came in and took our boy in her lap. She took one look at the lab results and one look at our son and said, yes, he had Lowe syndrome. Then, she started talking about the medication he would need to take and the special education he would need. She said he might not ever balance a checkbook but that he would walk and talk and be fine. As far as lifespan, she was currently treating an affected young man who was in his 20's. We went home in a daze; we weren't sure whether to believe her or not.

A few years went by and our son seemed to be proving Dr. Wappner right. He remained healthy and made progress in most areas of development. We had thought about trying to locate another affected family, but I was reluctant: what would we find?

Finally, Dr. Wappner arranged one of our appointments to be back to back with one of her other-patients with Lowe syndrome. When our boy was about three years old, we met another affected child for the first time. The little 9-year-old boy who walked into the room that day was like a miracle to us - proof of all that Dr. Wappner had told us. He talked with us and told us about his school. We were struck with how cute he was and how much he was like most any other boy.

Was it possible that our little boy could be like that?

As a result of that experience, for the first time, I had the courage to reach out. I wrote a letter to the Exceptional Parent magazine asking to hear from other parents. Before I ever received my copy,of the magazine, I got a telephone call from Patty, who had gotten her copy first. Her phone call was a breath of fresh air. She told me all about her son, who was about ten years old at that time. We talked for a long, long time, and I still remember portions of that conversation vividly.

She told me about her son trying to learn to ride a bicycle. (At that time it seemed to me that Leland was never going to learn to walk, much less do something like ride a bike!) She told me that her boy loved to talk on the telephone. (It seemed to me that our son would never learn to talk!) Most of all, she showed me that having a child with Lowe syndrome is really not the end of the world.

Following that phone call came others, of course, and then letters, and before long we had heard from so many parents we had to start a newsletter just to keep up with all the communication. One thing led to another, and here we are today.

All of the families in the LSA are different, of course. We are from all walks of life and we react differently to some of the same experiences. However, almost all parents we have been able to find are absolutely ecstatic when they learn about the LSA. It has been a life-line for many.

The things we have in common cut right across most of the differences: our experiences with doctors and hospitals, our daily struggles with trying to raise and care for our children, our hopes and our fears for the future - we have all these things in common. I have never met another person who can completely understand what we've been through and what it's done to our lives except for another parent of a handicapped child, and particularly if the child has Lowe I s syndrome. After all, we all speak the same language: how many members of the general population can talk fluently about EUAs, IEPs, OTs, PTs and cc's?

There are differences among our boys, too. In fact, one of the first revelations we got from making contact with other parents was learning how much the symptoms can vary from boy to boy. Furthermore, these children were born with other genes in addition to the one that causes Lowe syndrome, so they are certainly unique human beings.

However, the similarities among our boys are almost uncanny. Most striking of all is their outward appearance. Most of them look so much alike they could be brothers. The similarities go beyond looks, however. As those of us who are on the Board of Directors have gotten to know each other, we have discovered some common behaviors that are very unusual. We have discovered, for instance, that some of the boys have a fascination with furnace pipes and some are obsessed with doors having to be closed. We've also heard about allergies to peanut butter, fear of dogs, and of course, the famous Lowe syndrome tantrum.

At the same time, we've learned that most of our boys are bubbling over with personality. They love to talk; they love to be with people; they love music, and they are lovable. What all this means is that we as parents share day-to-day experiences that are very similar, and not just because of tile medical problems.

Some of these behaviors don't show up, of course, until the boys are a little older, but those of you who have younger children needn't worry. The older boys with Lowe syndrome are planning a seminar to help teach the younger ones all there is to know about being a kid with Lowe syndrome. I happened to see our son's speech as he was working on it. It was titled "Seven Ways To Drive Your Parents Crazy." I'm going to read it to you now.

At all times and in all places do whatever you can to embarrass your parents. An example is when your parents have gotten up the courage to take you to the theater along with the other kids. Don't sit quietly and watch the movie like all the other kids. Turn around and watch the projector light and giggle and sing. This drives them crazy.

Keep your parents confused and perplexed all the time. For example, when the school officials give you a psychological test, be sure and score high in a few areas, and real low in other areas. This way, they never know just what's going on inside your head or what your true potential is. This drives them crazy.

Keep your parents on an emotional roller-coaster. For example, don't make any progress for months and months. They will stop hoping and get used to the idea, for instance, that you're never going to walk. Then all of a sudden one day, take your first step. This drives them crazy.

Make the simplest everyday activities impossible. For example, when your mother takes you to the grocery store, your job is to become obsessed with the electronic beeper at the check-out line, or become frightened by it (take your pick). This drives her crazy.

Don't ever let your parents think they're safe from calamity. Go for several years in perfect health, then all of a sudden have a broken leg. After that, they will feel like they have to watch you like a hawk and they'll practically swallow their tongues every time you stumble. This drives them crazy.

Do everything possible to aggravate your brothers and sisters and in general keep the whole household in an uproar. You may do this by insisting on standing right in front of the TV so that nobody else can see the screen, or tearing up some of their favorite books and toys. This drives them all crazy.

The final and most important rule Rule #7: Turn your parents into emotional misfits. This requires keeping a delicate balance between being an uncivilized little savage and an irresistibly cute and lovable little boy,. This way, they will feel that life with you is almost intolerable but life without you would be unthinkable."

Of course, our boy didn't write these words, but let me assure you he could have. You parents will recognize the truth in these words and you know that one of the most satisfying ways to combat the craziness these kids make us feel is by being together like we are this weekend. Our problems, our hopes, our dreams, our fears - they are all the same. We have all traveled the same journey but we will no longer be traveling it alone.

We parents must avoid becoming so wrapped up in ourselves, however, that we forget who really has Lowe syndrome. Those little guys are not angels nor are they monsters. They're just little boys who were born with a terrible disease that has far reaching effects on everyone in the family. We can never accept this disease. We can cope with it and we will do what we can to make things better for them and try to help prevent future little boys from being born with it. And in the process, we will have some extraordinary experiences and this end will undoubtedly be one of them.

No, no one ever promised us a rose garden, but we can get awfully close. As Frank Libby Stanton said:

	"This world that we're a-livin' in Is mighty hard to beat;
	You get a thorn with every rose, But ain't the roses sweet!"

This speech by LSA founder, Kaye McSpadden, was delivered at the First International Conference on Lowe Syndrome, held June 20-22, 1986 in Indianapolis, Indiana.