Gard was born on July 9, 1993. Weighing in at 6lbs. and 12 oz., and was 19 1/2
ins. long. But her story started about 9 mos. earlier.
The day I found out I was expecting again was joyous. I told my 13 mo. old son that he was about to be a big brother. I knew he didn`t understand what that meant, but he seemed happy anyway. My husband was just as excited as I was. Everything was perfect. We had a beautiful healthy little boy who was the center of our world. He was sunshine squared. So happy, so healthy, so perfect in everyway. He slept through the night at 2 weeks of age, he learned to walk at 10mos., he learned to talk early and very clear, making sentences a two year old would have difficulty with. It is no wonder we wanted another child. God had certainly blessed us above and beyond.
Everything went pretty will after I found out I was pregnant. I was more tired then I remembered being with my son, but I thought it was because I had a 13 mo. old to chase. One day I started spotting and I called the Doctor. The Dr. wanted me to have a sonogram run. I was eight weeks pregnant at the time. The Dr. told me the baby was very small and it was hard to tell if anything was wrong, but everything appeared to be normal. The Dr. told me to stay off my feet as much as possible and we would run another sonogram in a few months.
The spotting wasn`t heavy and it wasn`t everyday, but still it was hard staying down with my son to look after. At Sixteen weeks along the Dr. ran another sonogram. I was told the baby was still very small but appeared very healthy and should be born full term and healthy. The Dr. then gave me a hormone shot and in a few days the spotting stopped. The rest of the pregnancy went well other then the fact I was still very tired.
When I was pregnant with my son I somehow knew he was going to be a boy. I guess it was that same intuition that told me something was not right with the baby I was now carrying. (I also knew she was a girl) I prayed every night of my pregnancy for a healthy and normal baby, but I was ready to except what the Lord gave us, or so I thought.
The labor pains started a few days before my due date, so I called the Dr. to let her know. The pains were pretty regular, about 20 mins. apart for 36 hrs., but not close enough the Dr. wanted me to come to the hospital. The pains started on Wednesday and by Friday I was exhausted. The Dr. finally told me to come in on Friday morning and she would get things started. The Dr. broke my water at 12:30 pm and by 2:45 pm we had our girl.
When I saw her my first thought was something is wrong. She was sickly and skinny looking, like those babies you see on T.V. who are malnourished. But I put the thought out of my head. When I feed her for the first time she took right off and ate real well. Not at all like my son, he had to be trained.
Later when I changed her first diaper, her bowel movement looked stranged. I questioned the nurse who took a look and said sometimes they look like that, but it didn`t look right to me. Her bowels were black and tarry looking, nothing like other newborns I had seen.
After we went home Mikaela wouldn`t settle into a routine like my son had. She would cry most of the time and didn`t eat as well as she had in the hospital. I just figured we needed time to adjust. As time went by though it wasn`t getting any better. When she would eat she seemed real restless and tossed her head back and forth. Her bowel movements were still not normal in my book. I called the Dr. to ask about this and she said not to worry that girls were different from boys and I shouldn`t compare her to my son.
At Mikaela`s 2 mo. check up she had only gained 2 lbs. and the Dr. wasn`t pleased. Again I asked her about the bowel movements, but she was more concerned with why she hadn`t gained any weight and dismissed my concerns. She suggested supplementing with formula. I was hurt and confussed as to why I couldn`t provide for my daughter the way I had for my son. The formula was a trick to get down Mikaela, because she wouldn`t take a bottle, so I stopped trying.
At Mikaela`s 4 mo. check up she still hadn`t gained any weight and the Dr. asked if I had been supplementing. I told her she wouldn`t take a bottle and she said I had to find a way to get the formula in. At home I still couldn`t get Mikaela to take the bottle so I decided I would try some infant cereal. She took the cereal well but would gag at it, so I made it real thin and then she just spit it at me. I kept trying the bottle and finally my Mom suggested trying a cup. A cup with a four month old, sounded crazy to me, but it worked, Mikaela took the cup and really went to town.
By six mos. of age she had gained only 4 lbs. from birth. She wasn`t wanting the breast anymore, so I weaned her and kept the formula. After I stopped nursing her she started vomiting at the 3 am feeding. I called the Dr. and asked her about it and she said since I was feeding her out of a cup she was getting too much too fast and I should try to slow her down. That proved fruitless because Mikaela wanted it and she wanted it now. Mikaela wanted something to drink all the time and I couldn`t understand this let alone try and explain it to the doctor. The vomiting got worse and started happening every morning. At noon though Mikaela seemed to do better. The Dr. had a hard time figuring out why she would, what she called spit up, every morning but then be fine in the afternoons. I tried to tell her it was more then spitting up it was projectile vomiting. The Dr. finally sent us to a Pediatrian, because she wanted a second opinion on why Mikaela wasn`t gaining weight. The Pediatrian looked her all over and concluded she was perfectly normal and healthy, just a petite girl. I once again asked about her bowel movements, and was told to give her juice. That was a joke, she didn`t want nothing to do with juice. She spit it back at me. Needless to say we were getting pretty frustrated by now.
One weekend when Mikaela was 8 mos. old she started vomiting everything that went in. Bless her heart she kept trying but nothing would stay down. We finally took her to the emergency room and were told she had stomach flu. We were told to give her pedialite for 24 hrs. She wasn`t keeping that down either so we called the Dr. again and they suggested jello water. She didn`t keep that down either. By Sunday evening Mikaela was vomiting up blood. We took her back to the ER where we sat for 2 hours waiting to be seen. Finally I got mad and went and found someone and told them my baby wasn`t doing well. She was waking up long enough to vomit blood and then would be in a comatose state till the next episode. She had also stopped having bowel movements on the Wednesday before. Obviously they didn`t know she was in such bad shape. They got started with an IV immediately and admitted her to the hospital. The next morning the Dr. came in and found a lump in her abdomen. He briefly explained she had a condition called intussusception. Her bowel had retracted back inside itself due to all the straining she had been doing trying to have a bowel movement. They took her to surgery immediately. After what seemed like an eternity, the Dr. came and told us they were able to fix the problem without removing any of the bowel. After a week in the hospital we went home.
For two weeks Mikaela was a healthy little girl. She ate and drank well. But then the vomiting started once again and I called the Dr. and they told me once again she was just a spitter. The vomiting continued and the fight with the Drs. was on. I was being told I worried too much, she was just a spitter, to go home and everything would work itself out. We tried numerous Drs. Finally two months later we found one that put Mikaela in the hospital for overnight observation, with a diagnoses of "failure to thrive." They run some tests and found she had Fanconi Syndrome and Rickets. The Drs. told us the Fanconi Syndrome was just a symptom of a bigger issue and they felt better sending Mikaela to a Childrens hospital. So on the 28th day of April 1994 we started our journey to Riley Hospital for Children, two hours from home and our son. The Drs. at Riley`s started medications to corrected the Rickets and Fanconi Syndrome, but had a hard time keeping them down her because she would vomit them right back up. The Drs. ran serveral tests and ruled out just about everything they could think of. Finally one Dr. said they thought it looked a lot like Cystinosis. They explained that Cystinosis was a metabolic disorder and told us currently there was no cure, but there was an experimental drug, Cysteamine, that we could use. They would have to perform a special blood draw and send it to San Diego California to get the results. We had been in the hospital for two weeks at that time. The Drs. said it would take a while for the results to come back, but that we could go home if Mikaela could keep her meds. down. The Dr. wanted to preform a Nissian and g-tube placement on Mikaela, so they explained the procedure to us and thinking we had no other options, agreed. The Dr. promised us a new baby after surgery, one who would eat and take meds without vomiting. Sounded good to us, but Mikaela wouldn`t eat anything, just water, that is all she would take by mouth. So her meds and pediasure started going in the g-tube.
Finally the diagnoses came back, it was indeed Cystinosis. After a month in the hospital we were on our way home to start a new journey into a strange and foreign world. The adjustment was unlike anything we had ever known. Nothing at all like they said it would be, "A perfect child who would eat and thrive." She was ten months old and weighed 10 lbs. 4 oz. and was 24 in. At fourteen months we started the cysteamine along with all the other meds. for the fanconi syndrome and rickets. Mikaela gagged constantly and didn`t do well at all. We made trips to the hospital on a monthly basis, we feared the worst with each trip. We started her in Physical therapy and occupational therapy to help her crawl and walk and eat. She had what they called sensory problems, she didn`t like certain textures of food or objects. Finally at 20 mos. of age she started walking and graduated from PT. OT, however, took a bit longer. She refused to eat anything or to do the exercises they gave us to do. We kept trying and she would make small gains, finally the OT told us they had done all they could. It would be a waiting game. Our Dr. told us about the Cystinosis Foundation, and they sent us a welcome packet. We read all we could find on Cystinosis and how to help our daughter thrive in this new world. We were contacted by Joan Hohl of Iowa and she invited us to join the Midwest families. We found there a warm and compassionate group that knew exactly what we were going through. We had love, understanding, and for the first time since diagnoses, Hope.
We slowly adjusted and the meds. slowly began to help. Mikaela felt so much better. By the end of her second year she was finally a happy, adjusted child. Although she still refused to eat. We gave her pediasure by g-tube and tried everything we could think of to get her to eat. We bribed, coaxed, tricked, and consulted every specialist we could find. The frustration was overwelming, the Drs. were at loose ends, they had run every test available and told us there is no medical reason she can`t eat. The conclusion was it was psychological, due to all the vomiting in infancy.
We were fortunate enough to attend a national conference of the Cystinosis Foundation in 1998. There we met and talked to Dr. Wolfe from Germany. He told us we should just set food in front of Mikaela and let it be her choice wether to eat it or not. As long as she is getting enough from her pediasure, he told us she would be ok. This was a hard adjustment for us because we wanted her to eat so desperately, but we gave it a shot. She of course didn`t touch a thing on her plate, but she did sit there with us while we ate.
When Mikaela was 5 1/2 yrs. old she started saying things like, "I`m hungry, I want something to eat." We were overjoyed. She would only lick or nibble but it was a start. Then during the summer of her 6th yr. she started eating a little more, actually taking bites of food and chewing and swallowing. She now eats a little something at every meal except breakfast. Mornings have always been rough on Mikaela and they still are. She will drink her pediasure by mouth, but her meds. that are not pills, still go in the g-tube.
Her bowel movements are still messed up. In the fall of 1998 she was hospitalized with another bowel problem called pneumatosis, a condition that causes air bubbles to form inside the wall of the bowel. She was admitted and put on an IV, everything was taken away by mouth, including water. That was the hardest thing to go through, because she loves water. They put her on oxygen because one Dr. read where it had helped in patients with this condition before. After a week in the hospital we got to take her home.
In May of 1998 Mikaela had broken her leg. She came home from pre-school and said her leg hurt. She kept complaining about her leg so we took her to the Dr. He looked it over and pushed on it and said it was a deep bruise. After a few weeks she was still complaining so we took her back to the Dr., again he pushed on it and told us it was fine, he couldn`t see any reason for her to be limping. A few more weeks and no improvement so we took her to a different Dr. who x-rayed and said it was fractured. He told us it was not a bad fracture and that we didn`t need to do anything it would heal on its own. Finally she stopped walking on it so the Dr. sent us to an Orthopedist who x-rayed her leg and said the bone was seperating and put her in a cast. It had been 3 1/2 mos. since she first mentioned her leg bothering her. After 5 weeks in the cast we went back to check it and the Dr. said it was not healing as fast as it should, he left the cast on. We got worried and took her to the Childrens hospital that had diagnosed her Cystinosis and found a Dr. there who took a look at it and told us it should have been in a cast 4mos. ago. She was in a cast for 5 mos. and finally it healed up. Now occassionally she will have pain in that leg, but tylenol seems to take care of it.
In Feb. 1999 she was again admitted to the hospital with another round of pneumatosis. The Drs. were especially concerned she had gotten this a second time and started testing to see why this had happened again. They put her on an IV and oxygen again and took everything away by mouth. They discovered one of her medications, Indomethacin, was causing the problem. She had been put on this medication to slow down her urine output so she could be potty trained. The medication worked and she was potty trained at this time so they were more then comfortable in discontinuing the Indomethacin. Since taking her off the Indomethacin she has had no more trouble with the pneumatiosis.
Today, Mikaela is in the 2nd grade and is doing very well. She has some delays in Math and Reading but is keeping up with her class and is making A`s and B`s. She still has a lot of tummy trouble in the mornings, but drinks her pediasure and is better in about and hour. She is now showing signs of flat feet, so will be seeing the Dr. soon for that. She is still on pediasure, she drinks 3 1/2 cans by mouth during the day and gets a night pump of 8 oz. She eats minimal food, but consistentlly. She is happy most of the time. She loves life to the fullest and has taught her parents how to take life one day at a time. You would not know today to look at her that her life has been filled with pain, hospitals, Drs., tests and struggles. She is amazing to us, she handles this disease with grace. She is almost 8 yrs. old and weighs 48 lbs. and is 41 3/4 ins. tall. She has constant diarrhea, but it does not effect her life, it is normal to her. She has been potty trained both day and night since age 4 yrs. Her favorite things are playing with Barbies, babies (both toy and live), picking on her brother, Nikolaus 9yrs., swimming, fishing, swinging, and singing. She wants to learn to play the piano, our next project. With every passing day Mikaela`s future is looking brighter thanks to the many individuals who give of their time and money to do reserach.
This was written by both Eric and Dena Gard, Mikaela`s parents.