Wednesday, August 21, 2013

Thoughts on Diastrophic Dysplasia in our Family

One of the main reasons that I wanted to be married is that I wanted to be a mother. When Bob and I found out that I was expecting the first time, we were both extremely happy. We were like most young couples: young and nearly penniless and in school, but very happy.

Ultrasounds were fairly new and were not given routinely, and so I never had an ultrasound while I was expecting Cathy. I have heard of many parents who despair that something may go wrong, or that their child will be born with something wrong, especially with their first pregnancy.  I never had any of these concerns. I was just happy to know that I would have my own little baby, whether it was a boy or a girl.

During labor and delivery, Cathy was posterior and was not dropping very fast. Ultimately, they needed to use forceps to help extract her.  Since it was after 1 a.m., and since I hadn’t slept much the night before, I was really tired. They worked on her quickly, but I didn’t get to hold and cuddle her, because they hurried her off to I.C.U. The doctor only told me that her legs seemed a little short, but he seemed bright and happy, and I felt fine about everything.

It wasn’t until much later that I found out that Cathy needed to be in I.C.U. because she had swallowed meconium stool. (It wasn’t related to her dwarfism, but everyone seemed so concerned about that, so no one let us know any differently. The obstetrician left the hospital for vacation, and the communication to us as parents was nil until I spoke to him much later.)

Bob went with those who took Cathy to the nursery. When he returned, he just looked like a happy, ecstatic father. When I asked if her legs were too short, he just smiled and said “No.” (In reflection, I am certain that Bob knew there was something skeletally wrong with his daughter, because he had studied sciences; but, to both of us, Cathy was perfect.)

During the night, multiple hospital personnel and medical specialists visited my hospital room. I was tired and wanted to sleep. The pediatrician that we had took it upon himself to call genetic specialists without our knowledge or consent. (I am glad that we did have insurance.) The pediatrician told us quite bluntly that Cathy had a condition called pseudo-diastrophic dwarfism. Whereas, the geneticists were not quick to diagnose, and waited to give her dysplasia a name until after they had shared the x-rays and photographs at three different conventions. The name they attached her condition is diastrophic dysplasia. (We were told that it was a recessive disorder, meaning that Bob and I have a common gene, and that with every pregnancy, there would be a 1:4 chance of having a child with a similar condition. At that time, the gene had not been pinpointed. Since then, it has.) The pediatrician also told us that we wouldn’t know until later if Cathy were retarded or not. We did not like the arrogant manner of this young doctor and changed pediatricians as soon as possible.

We took Cathy to the pediatrician that I had when I was growing up. He also saw us while she was still in the hospital and he was there for his own patients. He asked why Cathy was in Continuing Care. When I said her limbs were a little short, he said, “Oh, like me.” He was a man that was about 5’6”. It is much better to deal with positive people.

While in the hospital, the floor psychologist also came to speak to me. I thought that what she had to say was really weird. She said that she was sure that I was wondering, “Why did this happen to me? Why didn’t I have a perfect baby?” No, I never really did wonder that. But I did think to myself, “What is your problem? Cathy is a perfect baby. What do babies do? They eat, they wet, they sleep, they cry. Yes, she is a perfect baby. She may have some problems in the future, but we will wait and see and deal with them then.” I also remember wondering if she had scoliosis. She did not as a baby, and inwardly I knew that was a good thing.
The psychologist also asked strange questions about my family. My mother did not visit Cathy in the ICU nursery, because she had had some dental work done, or an abscess or something, and she did not want to take infection into that environment of tiny babies. But it was clear that the psychologist was concerned that Cathy wouldn’t be accepted by her grandmother. Nothing could have been further from the truth.

I know that my husband’s and my faith in Jesus Christ and the Plan of Happiness has had a lot to do with our attitude is facing any of life’s challenges. We have never regretted having Cathy as part of our family, and we have truly been blessed by all the many gifts and talents that she brought into our home. I really never have wondered “why me,” but sometimes I have wondered “why her?” I don’t really know why we have the individual challenges we have in this life (other than that we live in an imperfect world), but I know that Cathy has always been super intelligent and coordinated and blessed beyond her years. She is an old, wise soul who has taught all of us very much, and she has navigated life well. I don’t believe that she has ever really thought she is so different than anybody else.

We took Cathy home from the hospital when she was three days old. She had a healthy, happy childhood. She smiled quickly, talked quickly, and learned quickly. I remember when I talked to my sister soon after Cathy was born. I said that I just didn’t want other children making fun of her when she went to school. My sister told me that all moms worry about that with their children, and I have found that to be true. We all have differences, but the things that we have in common always outnumber the differences.

I think that because I was young, I felt that if I fed Cathy well, she could catch up some. Every parent wants the best for their children. I have always had faith that she can be healed, but I know that it will happen in the Lord’s timing. I know that will be an exciting day.

Cathy started communicated in short sentences and recited nursery rhymes between 12 and 18 months. She was an early talker and singer and problem solver, that’s for sure. One of the saddest memories I have is after Cathy’s brother John was born. Soon Cathy realized that John’s fingers worked normally, while some of her finger-joints didn’t bend. One day when we were all in the car, Bob and I heard Cathy say loudly in frustration, “Fingers, bend!” She was 22 or 23 months at the time.

Cathy never really crawled, probably because her arms were short. But, I have never seen a child that could roll across a floor faster than Cathy could. If she wanted a toy, she would find out how to get it. Then she learned to sit on her bottom and shuffle herself quickly across the floor while she was sitting. She began walking at about 14 ½ months and mastered that within a month.

Even though Cathy has never had full dexterity in her fingers according to the norm, she has always found a way to be good at things. She could tie her shoes when she was younger than any other of our other children. She could pump herself on a swing at 4-years-old as well. Her hand-eye coordination is phenomenal, so it is best not to challenge her at computer games. She is also a great pianist.

Cathy had surgery on her right hand just before she turned four. That was a challenging experience for all of us. I don’t believe that the doctor ever described what post-surgery would be like. As a young parent, it was difficult to have to wrap Cathy’s fingers down with Coban, hoping that the joints would become more dexterous and not fuse stiff; but Cathy’s fingers hadn’t healed and it was very painful for her, so she fought having it done. It was very sad, and I didn’t handle it well. It is hard to see a child lose faith that the world is a kind place where you can always trust your parents and other adults when she is only four-years-old.  But we did get past that.

The surgery made her right hand be positioned differently, and I think that it was a help as far as aiding Cathy with writing and such things. But it did not make her joint-spaces all work normally. And we found that she compensated equally well with her left hand and opted to not have surgery done on that hand.

Cathy did have occupational therapy through Easter Seals for a year or so. More than anything, she enjoyed the interaction with another adult. It was almost like pre-school. I know the therapists enjoyed Cathy, too, because she was so intelligent.

At the end of first grade, Cathy’s one knee turned in greatly, and her lower leg turned outwards. Her orthopedist was planning on performing a surgery. As her parent, I really didn’t feel like this was right for Cathy at this time. We exercised faith and prayers and asked for Cathy to receive a special priesthood blessing from a leader in our Church. The surgery became unnecessary, and the orthopedist told us that Cathy was breaking the rules. We all knew it was a gift from God at that time.

Cathy fell off the top of a ladder to a slide while at school in third grade. She broke her collar bone.  Because she was already a patient at an orthopedist clinic right by our home, we took her there. These are normal childhood accidents that can happen to anyone, and Cathy healed from that quite well.

The other surgery that Cathy had was to prevent her scoliosis from getting worse. When she was five or six, Cathy started developing scoliosis. She wore orthopedic braces to help her grow as straight as possible. The doctor said that he should not do the surgery until at least a year after she started menstruating, so that Cathy could reach her full potential height. So at age 13, she had surgery. 

The orthopedist tried first to put a rod in Cathy’s spine, but she immediately lost mobility. So he rapidly took that out, so that there would not be permanent damage. Then he took some bone from her hip to fuse different areas of her spine to hold it from further curvature.  (She later had a surgery to revise the scar between her shoulder blades, but it widened again, due to its location.)

I could write about all of Cathy’s wonderful accomplishments, but that would take a long time. And I don’t think it’s necessary for this book. So I will just list the major ones, so that people will know that having a small stature does not limit one’s possibilities for success.

Cathy graduated as Valedictorian in her 2000 class. She received straight A’s all through middle school and high school. She received a full-tuition scholarship to Brigham Young University in Provo, Utah; plus, she received several lesser scholarships. She graduated Magna Cum Laude from BYU, majoring in German teaching, and minoring in Russian. She then served a full-time 1 ½ mission for the Church of Jesus Christ of Latter-day Saints in the Family History department. She is currently working full-time for the church and is also taking classes part-time to finish her master’s degree in Library Science.  She is an independent young lady. In fact, she has helped family and friends financially when they've needed help.

Cathy had a brother who was also born with diastrophic dysplasia. He did not live long past birth because he also had a condition called Potter’s Syndrome. We know that he returned to his Heavenly Father, but Cathy especially missed getting to know her brother. One day she will, as will the rest of our family.

Cathy also had a brother who had a leg-length discrepancy. It looked like he was developing scoliosis; when, in fact, during his pre-puberty and puberty years, it became quite apparent that his right leg was longer than his left. (He also has an underdeveloped rib.) He had surgery to slow the growth of the longer leg, so the shorter could catch up. Now instead of having a 1 ½ inch discrepancy, there is only ½ inch. (The reason I bring this up, is that the genes that contribute to diastrophic dysplasia have to do with growth plates as well. I haven’t had anyone confirm that his condition could also be an outcome of the same genes or not, but I find it interesting. )

There truly is no pure gene pool in the world today, but we have found that there are many unseen disorders and problems that are far more debilitating than dwarfism. Cathy has brilliantly learned to compensate to make her life’s journey both successful and joyful.

(A post concerning Cathy's youngest brother Robby: