SPREADING THE WORD ON GROWTH AND ENDOCRINE DISORDERS

BY MARY ANDREWS.

I remember walking into the shoe store and the look of shock on the salesman's face. My son wore his shoes out before he grew out of them, again. At that time, a specific manufacturer guaranteed a new pair of shoes if they wore out before the child grew out of them. It would have been nice if there were a manufacturer of boys clothing that did the same!

My son, Deno, did not outgrow his clothing or shoes for several years. Any hand-me-downs from relatives with younger children were always too big on him. I did have concerns about his growth but was told that he will grow in his own time and not to worry.

Deno's baby sister, Dianne, was born exactly two years after her brother. My first clue and concern about his growth was when Dianne, almost one year old at the time, began walking. She did not appear that much smaller than Deno. Compared to cousins his age he appeared to be at least two years younger. But at each doctors visit I continued to express my concerns. His measurements were not plotted on a growth chart therefore his growth failure was not documented.

At the end of the second year, Deno had in fact grown almost three inches. He was nearly 5'5". Then I was told that it was Deno's decision if he wanted to go on for one more year… That was difficult for me. The question was asked. I was to my son's back, as not to give him any signs. His response caused tears in my eyes as I heard him say, "Hey Doc, what's one more year for the rest of my life?"

Several attempts were made to convince the doctor that something was wrong. Now at the age of four and his baby sister two, they stood the same height. Everyone complimented me on the cute pair of "twins" I had. It was almost embarrassing to tell them he was two years older for they would gasp in front of Deno and comment how small he was. It took two more years before I was finally referred to a pediatric endocrinologist. I couldn't even pronounce this specialty doctor let alone know how to spell it! At that time Dianne stood over three inches taller than Deno.

VISIT TO THE PEDIATRIC ENDOCRINOLOGIST

Our first visit to the pediatric endocrinologist was overwhelming, for the doctor was using terminology I had never heard before. I had no background in medicine in any way and I was so confused when he was talking about the pituitary gland, the tests they needed to perform, the percentiles on the growth chart and much more. Plus, it is so disheartening to know that something was evidently wrong, for he was not even on the growth chart. One of the first tests they wanted to perform was a "bone age" and it was not until I found out it was a simple x-ray of the hand and wrist did I become a little more relaxed. The first blood draw scared me more than Deno for it is so hard to see your child go through these types of tests. Being I am going back many years ago, the tests performed and the results took much longer than today's visits for growth failure. Now, at the age of almost seven, some results showed Deno as thyroid deficient. He was started on thyroid medication immediately and did start to grow slightly, but then we found out that his growth was not substantial enough and there had to be another underlying condition for his lack of growth. So back we went for more tests.

At the conclusion of the next visit to the endocrinologist I was in tears. Thyroid deficiency was something I could understand and after a few trips to the library (pre-internet years) I was feeling more comfortable with his diagnosis of thyroid deficiency. Now, realizing there was more going on, the terminology thrown at me was more frightening than I could ever imagine. They wanted to test Deno for Growth Hormone Deficiency (GHD). What in the world was Growth Hormone? What was this stimulation test they were talking about?

I ran back to the library. I tried desperately to find information on GHD and could find nothing. I called a friend who had access to a medical library and she was able to get some articles for me. I was not able to get through one paragraph and understand what they were talking about. All the medical terminology was impossi ble to comprehend. I had no one to talk to, no one that understood my concerns and I felt so alone in the world. What was wrong with my son? Why did this have to happen to him? What could I do to better understand this whole process of growth failure? Did I do something wrong that caused this?

Total shock, you can even call it near heart failure, when I was told that I was going to be trained to give the growth hormone "injections." No way. I was not going to stick a needle in my kid three times a week!

The stimulation test took several hours. The test measures Deno's output of Growth Hormone to determine if he has sufficient growth hormone in his system to grow normally. Unfortunately, Deno's level of Growth Hormone was extremely low. Now they had their diagnosis and we finally knew why Deno wasn't growing.

Hypopituitary Dwarfism was his diagnosis. You can imagine my terrified look at the doctors when they gave me the medical diagnosis. He was not a dwarf. Yes, he was small, but he did not have the characteristics of a dwarf, so why were they calling his disorder Hypopituitary Dwarfism? That's what it is called was the answer I was given. So now back to the library to understand as much as I could.

But do you think I found anything on Hypopituitary Dwarfism? You guessed it… literally nothing! Back to my friend for more articles from the medical library.

On the next visit back to the pediatric endocrinologist, after diagnosis, they told me Deno would qualify for Growth Hormone therapy. I guess I was excited, for there was something they could do for him, but I was told that there are no guarantees that he will grow. They told me they were ordering the drug (GH) and that I should return when it arrives and they will teach me how to administer the drug. That made no sense to me so I asked what educational process I needed to administer GH. I assumed it was a pill. Total shock, you can even call it near heart failure, when I was advised that I was going to be trained to give the GH "injections". No way. I was not going to stick a needle in my kid three times a week! I left a nervous wreck. I did not know what to do. There had to be a solution but the doctor's office told me that it would be impossible for me to return three times per week for someone there to give the injection.

The wheels were turning, almost worn out, as I tried to assess the whole situation. I had some great neighbors that were both nurses and I knew I could count on them to help me. I decided not to worry any longer for I would figure it out every other day.

Nervous as ever I went to the appointment I was dreading all along. When I arrived, they brought the GH into the room with other vials, syringes, alcohol swabs, and some written direction. The nurse told me she would have me prepare an injection with sterilized water and she would teach me how to give the injection. I told her to just show me and I could do it. I tried to act very confident so she would believe me. Some how, I'll never know how, she believed me and simply showed me how to do it. Little did I know until many, many years later that I was her first parent of a child to take GH and she admitted she should have never let me leave without the training.

I took the bundle of GH and all that went with the injection process and went home. That night was to be the first injection. Deno did not seem to be bothered and was preparing for it like a champ. After everything was on the kitchen counter and ready to mix, I called my neighbor and asked her to come over and help me. She came right over but told me that I had to do this on my own for she would not always be available when I needed her. I was not happy and called the other neighbor. I guess to no surprise I got the same response. Now I wish I had paid better attention to the directions the nurse showed me. She did give me her She did give me her home phone number in case I had any questions but I was too embarrassed to call her. My husband was in the kitchen with me when I sat to read the directions again. I mixed the vial with the sterile water and prepared the syringe. Mind you this was back in late 1978 and the syringe was much, much larger than what they use today. Instead of a sub Q injection (under the skin) it used to be muscular injections, deep into the muscle.

Deno was measured with a stadiometer. I waited patiently in the exam room. When they came back in the room the doctor told me that Deno had grown almost 1 inch. After several years he was growing!

I called Deno and he stood there in front of me like a champ. I knew this type of injection was not easy and I knew it had to hurt, but he was a trooper. We were told to rotate injections between thighs and arms and Deno wanted the first to be in his arm. I was trembling. My hand was shaking so bad I did not know how I would accomplish this injection. All I wanted to do was burst into tears but I didn't want my son to see me so scared. I tried hard to remember some comments by the nurse regarding the "art" of giving injections. If this was art, I knew that ability in me was nowhere to be found! I did remember the words "pinch the skin and jab quickly". So I did. I jabbed so quickly that the needle went in and came right back out. Deno looked up at me with such a sweet innocent smile and said, "See, it wasn't that bad." I ran into the bathroom. I did not want Deno to see me crying. I was still shaking and so nervous. What was I supposed to do now that I messed up so severely?

Let me explain a little about Jim, my husband, for he enters the situation now with much enthusiasm. Jim is a hard worker, a great husband and a great father. His life is always wrapped around his fam ily. Due to his many hours of work each day I was more involved in the day-today decisions of the children and was more involved in the education process of Deno's growth disorder. Even though we would discuss what I had learned, or the news from our latest visit to the endocrinologist, he always stood behind the decisions I made for Deno and supported all the decisions—except one. Injections! Not taking them, but giving them. I asked Jim to consider doing this for me. His quick, thoughtless response was, "Fathers work to support their families and Mothers learn to give injections when needed." That was the worst comment he could have made to me at that time. He was, plain and simple, more scared than I was but didn't want to admit it.

So while I'm still crying in the bathroom, Jim enters. He looks at me with a challenging face. He tells me to "grow up" and get out there and complete the injection. I explained to Deno that the injection did not go right and the precious kid was so willing to do it again! I only wish I was as willing as he was. I prepared another syringe and to make a long story short I finally did it. It was devastating for me and what made me feel even worse was that Deno took it all better than I did.

That whole first three months were brutal. I could not get over all the anxiety every time I had to give an injection. We had a follow-up appointment three months after our first injection and I kept thinking that I cannot possibly continue like this for several years. But our next visit to the endocrinologist proved to be a major turning point in not only my attitude toward injections, but the future of my son.

Deno was measured with a stadiometer. This is an accurate measuring device used by growth specialists. I waited patiently in the exam room while they measured him. It seemed like an eternity. When they came back in the room the doctor told me that Deno had grown almost 1 inch. I cannot tell you what that meant for me and even more for Deno. After several years he was growing! I asked them to measure him one more time to make sure, but they told me they checked it three times and it was true. The smile on Deno's face was worth a million dollars to me. He so desperately wanted to grow and it was finally happening.

Our children's growth is a blessing. We take advantage of so much that sometimes we do not realize the important of so many things around us. Deno's childhood was not considered normal. We did everything we could to make it as normal as ever, but you would be surprised how cruel children and adults alike can be. I've learned more than I ever expected from Deno and credit my accomplishments from the learning curve I experienced during his growing years.

Imagine going to the grocery store, or any other store, and trying to ignore people for you knew what would happen if you didn't. One time I was at the grocery store with Deno. I always let my kids pick out their cereal for the week. Deno stood next to me in the aisle filled with cereals stacked up very high on the shelf. As he stared at the variety, he then looked at me and said, "I really don't know which one I would prefer this week." Standing the size of a four year old, but actually seven at the time, and with a great vocabulary for a youngster, this mother next to him immediately took a double take at Deno and said to me, "Boy is he smart!" I simple looked at her, said, "I know" and took Deno's hand and went around to the next aisle. Deno and I were both laughing and Deno said, "Thanks, Mom." Realistically we both knew that if I told that other mother that he was seven years old the next comment out of her mouth would have been how small he was. We experienced that so much that it was easier for us to walk away.

School was difficult, and as we all know kids can be verbally abusive. We had good days and we had bad days. It was like a double education in learning how to handle so many difficult situations. I spent each new year explaining to his teachers about his growth disorder and how difficult it was to treat him by his age and not his size. Of course, until reality hit me hard, I was guilty of doing that myself

A MEASURE OF HAPPINESS: Deno (right) and sister Dianne; "Our children's growth is a blessing. Deno's childhood was not considered normal. I've learned more than I ever expected from Deno and credit my accomplishments from the learning curve I experienced during his growing years."

KINDERGARTEN

I remember Deno's first day in kindergarten. There was a separate entrance for the kindergarteners. We both so proudly walked up to the door together and when the teacher greeted us at the door she immediately put her hand on my shoulder and explained to me that pre-school was across the street and I was in the wrong location. I guess I wasn't ready for that and immediately, with attitude, told her he was five. Her answer was, "You're kidding!"

Deno became the class toy. He was like the baby in the group and all the other kids would help him with his coat, lift him up to the drinking fountain, reach up in his locker for him and more. Deno kind of thought this was cute for everyone was paying attention to him. It would not be until almost two years later that all the testing would begin, to determine why Deno wasn't growing, so the first and second grade years remained very difficult for him. It was fun getting attention in kindergarten, but other situations now were not so enlightening. On crying because no one would play with him. I was spoiling Deno and did not realize it. My family saw it and often made mention of the fact that I must learn to let him do things on his own. I did not appreciate their input for I felt they did not realize what Deno was going through and had no compassion for his daily problems. During the course of several years, situations would arise that made me see the light. I was spoiling him and allowing him to get away with much, and turning the tables was not an easy task.

I was spoiling Deno and did not realize it. I quickly realized that Deno was extremely smart and now using his short stature for his benefit. Was he in for a surprise when he got home from school that day!

One of these altering situations was when I was approached by one of his teachers while I was volunteering time at the school. She very sympathetically kept telling me that she felt sorry for Deno and me. I knew she was going to talk about his stature but I was going to force her to say it. Instead she commented on his hands. That confused me for I did not know what she was talking about. She kept telling me, "You know," but I had no idea. Finally, she told me that each and every day when she collects homework Deno only turns in half of his homework. When questioned why, Deno would look sadly down at his hands and respond, "My little hands got so tired that I could only finish half of my homework." 

And she believed him! I had to laugh at her for she actually thought that the size of his hands for his age could prevent Deno from completing all of his homework. I quickly realized that Deno was extremely smart and now using his short stature for his benefit. Was he in for a surprise when he got home from school that day! The one comment back from Deno is one I need to share with you. He told me, "If they were dumb enough to fall for it, I was smart enough to pull it off!"

Gymnastics was probably one of the most difficult times for Deno. One day when he came home crying and explained to me what happened in gym class that day, I lost my cool and took Deno and went immediately back to the school. Unfortunate for the gym teacher, for he was still in the building. That day the students were crossing the stall bars and Deno, in front of the whole class, was told to go sit in the corner that he was too small to do that. Not only did he insult him, but punished him for being small by sending him to the corner. I explained to the teacher what he had done, though he never saw it that way. I told him Deno just wanted to be like the other kids and do what they do, even though it may be more difficult for him. No child's feet touch the ground, crossing the stall bars so why should this be any different for Deno. The challenge was completed the next day. Even though Deno did not make it all the way across, he was proud to show his classmates that he can do things they do.

CATCHING UP SOMEWHAT

The years went by. Deno continued to grow. I know he was catching up somewhat, but the process seemed slow. Deno's attitude was very positive for he knew he was still growing. Our beginning years on growth hormone were from the National Pituitary Agency. The hormone was extracted from cadavers and purified. Because there was such a limited supply, only the worst case scenarios were approved for therapy. Deno's original diagnosis was never to see four feet tall, based upon his rate of growth and amount of growth hormone his body was producing. We were one of the approved cases but that did not mean that shortages wouldn't stop our supply every now and then. I remember the first three to four months we had to go without growth hormone. It is so devastating to see your child finally growing well only to be cut off and see no growth for a few months. We found some European sources for growth hormone and, on several occasions, we purchased the hormone from overseas so we did not have to stop. This was costly and you had to pay cash up front. But we did what we had to do.

There was talk about synthetic growth hormone in the future. This would enable any child in need to have the drug. I heard about "Genentech", the pioneers in Research and tried to keep abreast of what was going on. In the meantime, Deno continued to grow but was also entering puberty. Little did I know, at the time, what an important role puberty played in his growing years. It was like the educational process would never end.

On our next visit to the endocrinologist I was thrown for a loop. He explained to me that Deno was well into puberty and that his bones would fuse in the very near future. At the time Deno stood 4' 11" tall. He spoke about discontinuing his growth hormone treatment for they felt he had little growth left. I cannot tell you how heartbreaking this news was to Deno and me. I was on the verge of tears and rage combined. We'd had come so far. He was 11 inches taller than they ever expected but I could not imagine him only being 4' 11" for the rest of his life. My anger and gut instinct took over immediately. I asked where I could go and what I could do to help my son growth taller. There were no answers. I asked again and again and was told that I was being unrealistic and I had to face the fact that Deno had reached his adult height and I had to learn to live with those results. I just wouldn't accept their words and I became further agitated. The second endocrinologist on Deno's case entered when he heard our argument. He confirmed that there was nothing more we could do. I stood up, blocked the doorway, and told them they were not leaving the room until they could tell me where to go or what to do.

To delay his puberty Deno was given a drug to suppress sex hormones. This required daily injections, but if this could delay his bones from fusing, we could ultimately get another year or two of growth.

I was told I was unrealistic and could not accept the inevitable. These words meant nothing to me. All I wanted to hear was what I could do for my child. And after 20 minutes, which sparked my anger even more, I was told to call this endocrinologist from another state, which may have a program starting to delay puberty and continue growth hormone. I could not believe what I was hearing. I had an alternative. Yet they were willing to let me walk away without ever mentioning this possibility. I was outraged at this point.

DELAYING PUBERTY

I called this new endocrinologist immediately upon arriving at home. I left a message and was surprised when I received a call back within an hour. My anger was my new force of action. The endocrinologists told me that Deno appeared to be very qualified for this new research. He also stated that the protocol was not set as yet but we had very little time to waste. We made plans to fly out a few days later to meet with this doctor and discuss Deno's participation.

The doctor had reviewed Deno's file and determined that he would qualify. I was also told that Deno needed to switch to the new synthetic growth hormone, which had not been approved as yet by the FDA, but was part of the study protocol. I had been trying my hardest to keep up with Genentech's research and asked the doctor for his opinion as well. When he told me he would put his child on it, that he felt it was a safe product, I decided to move ahead. I believe Deno was one of the first, if not the first, to participate in this research study.

To delay his puberty Deno was given a drug to suppress sex hormones, trying to delay his puberty, which would delay his bones from fusing. This required a daily injection and a daily injection of growth hor mone. If this could delay his bones from fusing, we could ultimately get another year or two of growth. No one had any idea of how these results would turn out. Sometimes I would lay in bed at night asking myself what I was doing. Was it the right thing? Will this work for him? Yet, as some time passed, I noticed that Deno's underarm hair was diminishing, his darkened shadow of a mustache was now lighter and it appeared that some of the hair on his legs was not as coarse as before. Could this be working? Could we get another inch or two for Deno?

We made about three visits the first year, traveling to Virginia from Chicago. It appeared the therapy was working but you never knew from day-to-day when things would change. Deno grew about another 2.5 inches since we delayed puberty. This was great news as Deno now stood over five feet. I prayed this would continue for him and maybe get another two inches in the following year.

At the end of the second year, Deno had in fact grown almost three inches. He was nearly 5'5". Then I was told that it was Deno's decision if he wanted to go on for one more year. I believe the protocol was for two years, but they were willing to extend it further. I had no say so in this. That was difficult for me. The question was asked. I was to my son's back, as not to give him any signs. His response caused tears in my eyes as I heard him say, "Hey Doc, what's one more year for the rest of my life?" At the end of the third year, Deno stood 5'6 ¾ ". We say 5' 7" when anyone asks, a far cry from 4' 11".

Was the battle worth it? You bet it was. In between these growing years I was fortunate to meet some other families of children with growth disorders. By most part it was my doctor introducing me to someone or giving someone my name and number.

End result of meeting others lead to the formation of The MAGIC Foundation (Major Aspects of Growth in Children). We all suffered the lack of networking with others, educational materials regarding our children's disorders, and just knowing there were others out there like us. Even though I was a stay-at-home mom, I was enthused about starting a foundation that could provide others what so many of us missed out on. The corporate and business worlds were new to me, especially when I needed to fill out the forms for tax-exemption. I thought learning about growth disorders was a tough job. The IRS met their match when I walked into their office for help. They tried desperately to laugh me right back out the door, but I would not accept that offer. In less than 6 months MAGIC was a tax-exempt, non-profit corporation and ready to provide support.

In April 1999, Deno married his high school sweetheart, Allison. All the years of injections, doctors appointments, worry, and anticipation were going through my head as I watched him as happy as ever.

WE WERE OFFICIAL

I knew nothing about support groups, tax forms, registration forms, state forms and so on, that were all an integral part of running a foundation. I had no idea how to run computers, set up databases, spreadsheets, financial records, etc. I can honestly say I was scared but I wanted to do this for others so badly that I kept telling myself, "If someone else can do it so can I." I set up an office in one of my bedrooms. My husband provided funds for a computer and a toll-free number. Our first brochure on Growth Hormone Deficiency made us feel so "official". We may have only had 15 families in our database, but we were official. How we would grow was a concern to me but quickly it began to happen. Over the years we grew to thousands in our database, covered eight to 10 different types of growth disorders, had a national networking system in place and had some money in the bank to expand our support services.

The next few years brought about much more normalcy than our family was used to. No more doctors visits, no more injections, no more wondering about growth. I was busy with MAGIC, but how different to listen to others going through similar situations and being able to tell them that I understood and it would be okay.

In April, 1999, I sat in church, with tears of joy, as I watched Deno marry his high school sweetheart, Allison. All the years of injections, doctors appointments, worry, anticipation and more were going through my head as I watched him as happy as ever. I knew I had taken the right steps to give his life some normalcy and happiness.

It was three years later that the tears of happiness struck again. Deno called and told us they were coming over to BBQ and not to prepare anything. His wife's parents came over as well and I cannot tell you the joy that hit us all when they announced we were going to be grandparents. Our precious Sophia was born in March of 2001, a perfectly happy and healthy baby. And, in July of 2006, our second grandchild, James, from Deno and Allison was born.

Let's backtrack several years from 2006 for the story was not totally complete. After Deno completed his growth hormone therapy, we did begin to see changes in him during the next couple of years. He started to gain weight and sleeping many more hours than usual. He appeared to be lethargic at times. I was following many articles about adult GHD and all the research they were conducting. I continued my aggressive attempts for Deno to read up on adult GHD, but he was not interested. After about 30 pounds of weight gain, sleeping about 12-14 hours a day and feeling very sluggish, he finally told me he was going back to the endocrinologist to find out about this adult GHD. He was retested and his growth hormone levels were extremely low. He began adult replacement therapy soon after and the changes were amazing! Needless to say, MAGIC now added adult GHD to our support services as we realized how many adults affected had no where to go as well. Deno has provided much support to many of our families in MAGIC. He participates in our Annual National Convention each year and works with the children and parents. He has become a mentor for many of the kids.

I often wonder what my life would be like today if Deno were not affected with GHD. I was this typical stay-athome mother and how life takes its course is quite interesting. I am looking forward to retirement in a few more years and wonder if I can actually walk away from these many years of "growth." I will try, but I do not see myself staying too far away. In fact, I can see the staff at MAGIC telling me to go home when I plan to visit (probably every day)! •

ABOUT THE AUTHOR:

Mary Andrews is the parent of a son, Deno, now an adult, who was diagnosed with Growth Hormone Deficiency (GHD) when he was a child. Due to her son's growth failure and difficult problems with information many years ago, Mary cofounded the MAGIC Foundation, based in Warrenville, IL, which is today the largest non-profit for children with growth and endocrine disorders. The organization is more concerned about spreading the word on growth, as growth failure is a major sign of overall health in children. Visit: magicfoundation.org