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Caroline’s story ends up being one of the best outcomes a child diagnosed with PHHI can have. There exists such cases and because they are cured early in life they often go unnoticed. Caroline’s parents wanted to contribute to our website by sharing her story, especially with the newly diagnosed so that they would not only know about the difficult persistent forms but also about those that can be cured. We asked Lisa and Mike to answer some questions recounting the events that led from Caroline’s diagnosis to her cure.
How and when was Caroline diagnosed with HI?
Caroline initially had low blood sugar at birth but was monitored for 24 hours (during which time she nursed well) and had adequate blood sugar levels. On day 2 of life, she was pronounced healthy and we were discharged from the hospital. Mike loaded the car with everything except Caroline (we were waiting to take some pictures before leaving) and I asked a nurse to remove the security bracelet from Caroline’s ankle so that I could dress her to go home. Our car was parked at the front door of the hospital! As Nurse Barb struggled to remove the security bracelet (the 1st machine didn’t work and she had to leave the room to hunt down another), she told me that Caroline seemed a bit cold and lethargic and she took her back to the nursery to warm her up. Only moments before we were headed out the door for home…..now Caroline was whisked away, leaving us sitting in the hospital room staring at an empty car seat. It seemed surreal. Nurse Barb told us later she just didn’t “feel” right.
Within 20 minutes we were told that Caroline was in the NICU receiving a glucose IV and a spinal tap. Her blood sugar was 12. Nurse Barb literally saved Caroline’s life by acting on her feeling! I don’t think I met a doctor (from three hospitals) who did not emphasis that point. The doctor’s assumed that I had undiagnosed gestational diabetes and that Caroline had a transient form of HI. There was some mention of a “tumor in the pancreas that could over-produce insulin” but we were told that was very rare and that they had never seen a baby with this condition at this hospital. After 9 days in the NICU at that hospital, the doctor’s were not sure why Caroline was unable to maintain normal blood sugar levels without the glucose iv and transferred Caroline to the NICU at University of Kentucky hospital under the care of two pediatric endocrinologists. She underwent many, many tests to rule out other concerns. All of those tests came back negative. We found this to be a double edged sword. We were relieved that Caroline did not have any of the issues they tested for but we were left with the mystery of Caroline’s low blood sugar levels and how to help her and keep her safe.
After nearly 2 weeks at UK, Caroline was still unable to maintain normal blood sugar levels and the endocrinologist’s began consulting with Laura Wanner at CHOP by telephone. Laura gave them guidelines for medical treatment. When diazoxide and octreotide failed to help Caroline she was transferred to CHOP as a surgical candidate.
Did she respond to any medication?
Caroline initially seemed to respond to diazoxide but it ultimately failed to keep her sugar levels normal. They also tried a combination of diazoxide, octreotide and a steroid. At first, medical treatment seemed promising (her sugars seemed to be higher with them) but ultimately her blood sugar always dropped dramatically toward the end of the glucose iv weaning process. It seemed like a roller coaster ride and was extremely frustrating.
When and why was it decided to do a Petscan?
Mike and I both had been reading the CHOP website, the SUR1 website and anything else we could find on the internet regarding HI. When we spoke to Laura Wanner on the phone, prior to arriving at CHOP, she explained the importance of the pet scan both as a tool in diagnosing Caroline’s HI (focal vs diffuse) and as a research tool. We were grateful for this technology as opposed to the ASVS procedure used in the past as it would have been so much harder on Caroline. Before transfer to CHOP we understood that Caroline would have a cat scan, pet scan and then surgery unless the doctor’s at CHOP were able to get Caroline to respond medically which seemed very unlikely.
How were the PETscan results interpreted?
We were extremely disappointed when Laura reported that nothing on Caroline’s pet scan “stood out like a light bulb.” We had been told that focal lesions had stood out in this way on the pet scan in the past but Laura did say that the pet scan was a research protocol and therefore they would not know for sure until the biopsies had been completed during surgery. Laura and Dr. Stanley told us there was a “suspect area” in the tail of her pancreas (it was dimly lit in the pet scan) which Dr. Adzick would explore first but the general consensus was that Caroline had a diffuse diagnosis rather than focal. We were extremely disappointed.
How did the Petscan help decide the type of intervention Caroline had?
Dr. Adzick told us he would first explore the suspect area in the tail of Caroline’s pancreas that showed on the Pet scan but we expected from the Pet scan that Caroline had a diffuse diagnosis. The pet scan enabled Dr. Adzick to look at that area first.
Did you, as parents, have choices to make?
We really had no choice. Caroline had to have surgery. She was unable to control her blood sugars medically. We expected that Caroline would have most of her pancreas removed during surgery and that she possibly might have to have a second surgery. We expected post surgery that she would either be on medication to raise her blood sugar or would have insulin dependant diabetes. We thought she would have a G tube and that she possibly would need glucose through the tube at night. We weren’t sure what to expect and finally came to understand that we just had to wait and see how Caroline responded.
How much pancreas was taken out and which part?
Caroline had an excellent outcome to her surgery. Much to our surprise, the suspect area in the tail of Caroline’s pancreas was indeed a focal lesion. Caroline had approximately 5% of her pancreas removed from the tail. I remember that Dr. Adzick told us he had “extraordinarily good news” and that it was the “best possible outcome from the surgery”.
How were Caroline’s blood sugars after surgery?
Caroline did very well post-op. As expected, her blood sugars were high initially, but quickly returned to normal and she began eating full feeds much faster than expected. We had been told that her sugars might bounce around, be very low or very high, but she maintained very consistent blood sugars in the normal range.
Have the Drs given their position about the possibilities of Caroline becoming diabetic in the future?
Immediately following surgery the doctor’s felt that Caroline would be fully cured. After successfully passing the fasting study she was pronounced cured and we were told to “throw away the glucometer”. We have checked Caroline’s blood sugar once since that time (at one year of age) when she had a stomach virus and wasn’t keeping much of anything down. The doctor’s did not tell us we needed to do that…it was just for our peace of mind. Her sugars were normal !
Did you feel that you were given all the necessary information at the time or could things have been explained better?
I could not imagine being more fully informed than we were. EVERYONE at CHOP was very forthcoming and patient. Laura (and everyone else) did an outstanding job of fully explaining HI in a way that we could understand. We did our best to be good students and asked lots of questions until we were sure we understood. I know she was very busy but it felt like she had all the time in the world to help us understand the entire process. We felt included in Caroline’s care 100% every step of the way. Everyone on the HI team answered all of our questions and they were all extremely available to us. In addition to the expert advice from CHOP, the SUR1 website and Yahoo HI message board were very valuable to our understanding of the disease and helped us prepare our questions for the clinicians every step along the way.
Have you been given good after care from the HI team or do you feel that you are pretty much on your own?
Because Caroline was pronounced cured we have not had to have any follow up care from the HI team. However, we have enjoyed a few chats with members of the team just to let them know how well Caroline is doing and how grateful we are to them. We also just received a copy of the HI dvd produced by CHOP which contains footage of Caroline’s surgery and also of Dr. Adzick giving us the wonderful news immediately following Caroline’s surgery.
Throughout all this, how did you feel?
At first, when we thought Caroline had transient HI, I was just anxious to get her home. We have a 10 year old son and I could hardly wait to be together as a family. We had prayed to be blessed with a second child but as nearly 8 years had passed between pregnancies we finally relinquished that dream and cleared the attic of all my son’s baby things. Two weeks later I found out I was pregnant. There was a lot of excitement during my pregnancy. When she was born and pronounced by our pediatrician as “just perfect”, I was so relieved and happy. After all the build up, I was so disappointed not to have a normal homecoming for Caroline and four days in the NICU (initial projection by the doctors) seemed like an eternity. Little did I know!
My father was visiting for a week and I was very disappointed not to share this special time with him. After that we focused our hope that Caroline would be home in time for a planned visit from Mike’s parents the following week. Then Caroline had seizures as a result of her low sugars and things seemed very bleak. Still, we were told worst case scenario would be 14 days in the NICU while she sorted out her sugars…..at that point I just wanted her to be ok and I quit focusing on the length of time she might have to be in the hospital. When we were told by the doctors that they didn’t know how to help Caroline and that we would have to leave for the second hospital…that was horrible. Mike said it was the worst time for him because she was supposed to leave the hospital and come home…not be transferred to another hospital. As Caroline failed each weaning process from the glucose iv time and time again, we became very frightened. It seemed like no one knew what to do to help her.
When we first began reading about HI on the internet I was terrified. At first, Mike wouldn’t let me read any of the information but while he was gone one day I read it and just cried and cried. I felt very helpless and also quite hopeless. I wondered if Caroline had suffered brain damage. I wondered if she even knew I was her mother. We were with Caroline almost all day every day but the nurses were giving her most of her care and there were some days that we were not allowed to hold her at all. At the time, Mike and I were both self-employed. I wondered how we would support ourselves if Caroline required intensive on-going care. I was angry…angry that we had finally been blessed with a second child and now this….it seemed very cruel. My son was thrilled to finally have a sibling. I hated it that instead of being home enjoying the new baby, he was shuttling back and forth between family and friends and was separated from us most of the time.
One night I walked up to the very top of the UK hospital parking garage well after midnight. It was the only place at the hospital that was quiet and semi-private. I could see the roofs of the houses in our neighbourhood…that’s how close we were to home. I could see all the landmarks of our neighbourhood but I felt like home might as well be a million miles away. I just stood up there on top of the garage and screamed at the top of my lungs! I felt like we would never be able to take our baby girl home. And, if we ever did get to take her home, what would home life be like and could I handle it? When I did rush home to grab clean clothes, I would not open the door to Caroline’s room that was ready and waiting for her.
We didn’t want to go to a third hospital but by the time we arrived at CHOP I was so grateful to be there. We knew we were dealing with HI by then and we knew we were in the right place. Everyone, from Dr. Stanley, Dr. Adzick, Laura Wanner and the rest of team right down to each and every NICU nurse knew exactly what to do to help Caroline. We didn’t wish this for Caroline and we didn’t like being so far from home but we were so glad to be in a place where they knew how to help her. We felt very confident in the care Caroline was receiving at CHOP. We could return to Ronald McDonald house at night and rest knowing that she was being well cared for and was safe.
Does this Hyperins group help you at all especially at the beginning?
I have to admit, I was very depressed by what I read at first. But, that said, everyone was very sympathetic and so very helpful in sharing information and hope. The group was especially helpful to Mike. It felt like I had more of an outlet through my friends than Mike did and I was grateful he had somewhere to turn and somewhere to focus his energies. He spent a lot of time on the computer reading all the previous postings trying to garner as much information as possible. It was helpful to have a place to turn to vent and ask questions.
I specifically wanted to do this interview because I remember crying on Mike’s shoulder after reading the posts on the board. Everyone who was posting was having such a battle! I know you do what you have to do but at the time, I wasn’t sure how I would handle it. Mike said to me “Only the people still struggling are posting. There have to be others with better outcomes who aren’t posting anymore.” It’s very unfortunate when that happens because it is important to share ALL our stories but after Caroline had surgery and was pronounced cured, we felt uncomfortable returning to the board. It felt difficult to be a part of the community while not having to deal with the issues that other families are dealing with. We wanted to reach out to others dealing with HI but we weren’t sure how to do so. We understand HI from our perspective but we can only imagine the ramifications of outcomes different from Caroline’s. I hope that Caroline’s story will bring hope to another family.
Alexandria
Hello! My name is Alex and I live in Brisbane, Australia. I was born with PHHI in 1983. I had four pancreatectomies when I was a baby and now need to take insulin. Here is what I actually remember but first, here is mum’s side of the story from when I was a baby:
I presented with severe hypoglycemia at birth, and even with a glucose drip, my blood sugar would rarely rise about 2.0mmol. I was treated with diazoxide and chlorothiazide, and would not feed. Mum said that it was absolutely terrible – I would scream, arch my back and bring up any little bit of milk that mum had managed to feed me. I first went to surgery at 28 days old. During the first lot of surgery, the surgeons removed what they then thought was an adenoma in the tail of the pancreas. Two days after the surgery however, my blood sugars fell again, and were just as bad as before surgery. I was taken to theatre again and had a 95% pancreatectomy when I was a month old. I was put on diazoxide again as my blood sugars were still low, except that this time I had severe side effects and ended up in intensive care with severe fluid retention and an electrolyte imbalance. That was the end of diazoxide for me!! I was still in hospital on a drip, cornstarch, a low leucine (low protein) high carbohydrate diet and frequent feeds by nasogastric tube when were required. I still wouldn’t eat and was still vomiting frequently. At six months of age the blood sugars were out of control again and I had my third pancreatectomy. This time, my blood sugar was high after surgery and I was on insulin during the days following the surgery. The blood sugars came down gradually with the insulin and the insulin was stopped. After a month my blood sugars were in the normal range and I ate really well. Six weeks later, I was getting the occasional low blood sugar and the feeding problems were returning. Frequent feeds around the clock were back on the agenda again, as was the cornstarch and the low leucine, high carbohydrate diet. Eight months later (I was 14 months old at the time), my blood sugars were again very hard to manage and so I went off to surgery again for the fourth pancreatectomy (another 95 % of the remainder). This time my blood sugars were high after surgery and everyone knew that insulin was going to become a part of my life.
It goes without saying that I can’t remember what happened to me when I was a baby, at the time of my surgery. However, I still do have quite an impressive scar, which I am pleased to say is still a longer scar than my brother (who broke his arm when he was 14 years old) has’ to show off! I can’t remember much from primary school, except that mum used to come and do blood sugar tests at lunchtime and used to worry that I would have a hypo at school.
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These days…I am about to start my second year of Property Economics and I working part time for Colliers International. I live at home with a horse, a cat and my two dogs (and a brother, mother and father). Our house is always full of friends and there is hardly ever only my family at home, so I lead a fairly busy life. I have plenty of friends and most of them accept my diabetes as part of me. I am still on four injections a day and I take my insulin to work and to university as well as when I go out with friends (my close friends always look out for me when I am out with them and they are always concerned what my blood sugar is and if I am feeling alright). As for future…
Well..I would like a career in the property industry after I finish my university degree and see what happens after that.
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Catherine
| I am Isabel, mother of Catherine; we are from Quebec, Canada. Catherine was born in 1993, was treated with continuous feedings, diazoxide and octreotide. She had a pancreatectomy and a gastrostomy and had severe feeding problems. Here is her story…. Catherine is my first child, and during the first 34 hours of her life, it seemed I had given birth to a perfectly normal baby girl. She was born on my 36 th week of gestation and weighed 7lbs6oz (3k300g). That should have been the first sign that there could be trouble. She was a bit big for her gestational age. But no special measures where taken then. |
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At 34 hours of life, Catherine let out a strong cry, stopped breathing and became stiff (thank God she was in the nursery!). Her Blood Sugar Level (BSL) was tested and she had 1,5 mmol/l. Doctors put her on a dextrose drip for a short period. Her BSls normalized and we were sent home with no special instructions.
At about 4 weeks old, Catherine was having periods of very loud cries, becoming stiff and with a strange look in her eyes. To a new mom it appeared like colic. She could also sleep through the night without feeding. My mother kept telling me something was wrong but I thought she was being overly “grandma”. I finally took an appointment to see a paediatrician. On that morning, my neighbour was baby-sitting Catherine. When I went to pick her up she commented that Catherine was impossible to wake up for her drink and that she had strange movements of her right arm and leg. In other terms, she had had a seizure; that I did not know then. When the paediatrician asked me to take her to the hospital for observation, she looked absolutely fine, but her BSL upon admission came out at 1,3 mmol/l. It was then that she was sent to another hospital. Tests were done and she was diagnosed with PHHI at 6 weeks old.
We spent 6 weeks in hospital. When we came back home, Catherine was on continuous feedings through NG-tube and on diazoxide. We were told that everything should come back to normal by the time she was six months. I had been breast-feeding Catherine since birth. But in hospital, with the dextrose drip, and then the continuous feedings, she started to refuse my milk.
That was a very painful experience for me. When my baby was crying I wanted to offer her my breast for comfort. She would happily take it for the first seconds before milk was expressed. Then, looking as she had been betrayed by this no good pacifier, she started to cry again and there was nothing more I could do. My mother would take her and comfort her like a grandma knows how to do.
Since I was told that everything would come back to normal by the time Catherine would be 6 months old, I decided to express my milk so that I could go back to breast-feeding afterwards. No need to say, after 6 months things did not come back to normal and I abandoned the dream to breast-feed.
Instead of breastfeeding I was inserting Ng-tubes down her nose. My husband would help hold her, but for more than one year, he refused to insert the tube himself. I was the only one doing it. On top of that my daughter would not feel comforted when I held her in my arms afterwards. I was being a nurse much more than a mother.
We kept that up for one year. The continuous feedings and the diazoxide were making her hairy like a little bear. But despite all the treatments she had frequent BSLS below 2,5 mmol/l. Doctors decided to investigate more by doing a Portal Venous Sampling (PVS). This technique was supposed to determine if Catherine had a focal lesion on her pancreas that was producing all the excessive insulin. The results were analysed by the endocrinology team and they convinced us that there was probably a focal lesion on the tail of the pancreas. So at 14 months old, Catherine had 75% of her pancreas removed. This allowed us to space out time between feedings and to stop the diazoxide, but only for a short period. We were actually let out of hospital believing Catherine was cured. But the low BSLs came back less then a month after surgery and she was put back on diazoxide.
One year later, with persisting low BSLs, Catherine was put on Octreotide. We first gave the octreotide through injections 3 times and day. Since that did not work, we put her on a continuous infusion of octreotide. That did the trick. That and feedings every 3½ hours. It was also then that we decided it was best for Catherine to get rid of her NG-tubes. Since tube feeding was still necessary, she had surgery to have a gastrostomy.
When we first started the octreotide, doctors wanted to continue with the diazoxide. Even though we kept telling them the diazoxide was doing no good other then making her hairy, they did not want to remove it. We decided to stop the diazoxide without telling them. Our BSL report one moth later proved that nothing had changed. But that got us kicked out of the hospital and into an other.
At the new hospital, the use of cornstarch was a known treatment for low BSLs. Large amounts of cornstarch were added to Catherine’s feedings which helped a lot with maintaining good BSLs. Since the day she was diagnosed, Catherine had been exclusively tube fed. It was becoming obvious we were going to have trouble with oral feeding, and we still do! With a complete lack of appetite and the need to eat every 3½ hours feeding issues can become a very big problem! Catherine had gone through feeding therapy and mom and dad through counsellor’s help to learn to relieve stress during meals.
At 8½ years old, Catherine’s gastrostomy was closed. She was still eating only purées but we no longer needed the tube to feed her. It was also then that we started a new medication called Megace which was intended to increase appetite. Not only did it increase appetite, but it also increased her BSLs allowing us to stop her octreotide. Catherine now eats all types of foods and the nightmares of feeding issues are behind us. With her endo’s approval, we continued with the Megace until 2005. A recent test showed that the Megace was interfering with normal eastradiol production. The endo thus recommended that we stop this medication leaving us with the only choice of going back on octreotide. Because of the known effect of octreotide on Catherine’s growth hormone secretion, Catherine is now also taking growth hormone. Catherine’s BSLs still need to be controlled and she might occasionally go low but the management of her disease is much easier than when she was a baby.
Ashlee
My name is Dina, mother to Ashlee, 4 years old. We are from North Branch, Michigan. Ashlee was born in 2000 and has been diagnosed with Hyperinsulinism-Hyperammonemia (HI-HA). She is treated with Diazoxide and a protein restricted diet in our endeavors to maintain her blood sugar levels (BSL). She’s currently on a very high dose of Diazoxide. Here is Ashlee’s story…
Ashlee was born full term (39.5 weeks) and seemed healthy upon delivery. She was very, very small for gestational age weighing in at a tiny 5lbs and 3 oz. This should have been our first indicator that perhaps something wasn’t quite right. Ashlee was very vocal from the get go and cried a lot. She did not take well to breast feeding and after a few weeks of trying exclusively to breast feed, I did begin to bottle feed as well, breast feeding when I could and when she would, which wasn’t very often. We weren’t even having luck with bottle feeding as we spent months searching for bottles she would actually take. She would take only 2 ounces of food at a time and we were convinced it was the bottles. However, now we realize, maybe not. Once we got the feeding okay (2 ounces every 2 hours) we dealt with some sleeping and crying issues. We took her from paediatricians to emergency rooms, telling them how she cried all the time, was very “active” (her hands and feet would move in constant little circles) and wasn’t a good sleeper. We were sent home repeatedly with the diagnosis of colic. We never quite agreed with this as mother’s intuition told me that there was something more.
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At about 8 months she was eating baby food, although not much, she never did become a good eater. One day, when she was 9 months old, she woke up from a nap screaming, which was not normal for her. I went in, picked her up, and she was as limp as a rag doll. I watched her for a second and realized she was, in fact, having a seizure. She was limp, her eyes were rolling, and she was whimpering. I grabbed my coat and a bottle and ran out the door. Not sure where I was going, I headed to the closest Doctor’s office and ran in with her yelling, “please help my baby.” They took her in, calmed us all down and examined Ashlee. She seemed upset, yet didn’t have signs consistent with a seizure. I went home and called her paediatrician, we talked and agreed next time, to take her to ER. About a month went by and all seemed okay, until it happened again one day. Although my husband believed me about the previous incident, I think a few people doubted what I’d said I’d seen. Well, this time, my husband was there and we drove right to the ER. They looked at her, said she looked fine (she was calmer and more normal by the time we got there) and sent us home. This happened on 2 other occasions, each time we got sent home. By now, the seizures were happening daily and I could barely function. I didn’t know what was wrong with my baby, but I knew it wasn’t normal.
Then, one day, in the ER, she began to have a seizure and I ran out, grabbed a Doctor and made him watch it. They immediately drew blood and her sugar levels were under 30. The put her on a dextrose drip and transferred us to a bigger and better equipped hospital. Once there, all that was done, was put her on a drip and stabilize her, and then they sent us home, despite my protests. We were back the next day. At this time, they did every test on her from epilepsy to reflux and nothing came back positive. We were in there for 3 weeks and finally I asked them to take her off her drip and we would see what happened. We did and boy did they see. Her routine consisted of waking up, breakfast, seizing, sleeping, waking up, eating, seizing, and on and on. About 10 seizures a day was the norm during this time. I sat helpless, praying and begging that someone, anyone, would recognize what was wrong with my baby and help her. I just held her as much as I could, reassured her, sang to her, and cried for her. I thought I was losing my child. I honestly didn’t expect her to live; after all, no one could tell me what was wrong with her or what was happening to her. The last seizure Ashlee had was in that hospital. The Dr. was in observing her and she began to have a seizure; he watched her for about 4 minutes as I was frantically trying to get her to eat or drink something. Suddenly, she became unresponsive and they administered glucagon, which she responded to. At this time, they put her on Diazoxide and she was admitted to NICU. They transferred her to yet another hospital for more tests. Well, this hospital didn’t seem to think this was necessary and wanted to do nothing but try to take Ashlee off the meds that were keeping her stable.
During this time, my husband and I were online doing our own research, as we weren’t happy with the lack of progress in any of the hospitals. During our research we found a lot of information on Hyperinsulinism, which we thought sounded a lot like what Ashlee had. We started a journal of everything that happened; every time Ashlee ate, drank, went to the bathroom, every blood sugar taken, etc. This journal helped us see that Ashlee seemed to have seizures after she had eaten. The hospitals literally thought we were crazy and sent us home. Ashlee, being on a very low dose of Diazoxide, was not having seizures, but was far from stable.
With all the research we were doing, the Children’s Hospital of Philadelphia came up many, many times in association with blood sugar diseases. After finding the yahoo support group on Hyperinsulinism and posting my story, many directed me to CHOP. I contacted them immediately and the nurse practicioner listened to every last detail of my story, even though it went on till after 6pm, surely when she should have gone home. We scheduled a visit there to have Ashlee evaluated by Dr. Stanley and his Endocrine team. This was their specialty, they were the experts. We went to Philadelphia fully expecting surgery and a concrete diagnosis. Upon testing, however, her results went a different way. Ashlee ended up having HIHA, which is a form of HI in which the child is leucine sensitive. Leucine is an amino acid in protein foods. Ashlee’s HI was triggered not just automatically, but also whenver she would eat a protein food. Her reaction was remarkable, with sugars going from 90 to 35 in a matter of 15 minutes after eating protein. This would explain why, in our journals at home, we noticed that her worse moments came directly after eating. This “theory” of ours that the Doctor’s in Michigan thought was crazy, was in fact, something very important.
Our hopes of surgery and a cure were whisked from under us as we learned that surgery cannot help children with HIHA. Ashlee’s condition was pretty severe, requiring us to increase her meds to the highest possible amount and restrict all snacks and meals to equal a very low 30 grams of protein a day. As you can imagine, pasta and veggies took this amount and meat was not a part of her diet. She began to get used to it, though, and after increasing her meds, we noticed an amazing turn around in Ashlee. She was now 18 months. She began walking and talking and smiling, playing and calming down, in general. She was a different baby than we’d ever seen before. We would sometimes just sit back, watch her and cry; this is what it’s like (she is our first together). In a series of follow-ups, we added some protein back into her diet because the Diazoxide works so well. We spent the next 1.5 years looking for a good Endo. in Michigan, which we now have. We have our bad days with low sugars for no apparent reason, but we work through them and try to remain calm. To this day, CHOP and it’s members in the Endocrine Department, are our angels. We wouldn’t be at this point without them.
In retrospect, I see her first 9 months as being signs that weren’t detected; how miserable she must have been. Wanting to help her, I’d feed her (eggs, peanut butter, anything) not knowing I was hurting her more. Knowing what I know now, I would have treated her in a different manner. I’ve come to realize that I am my child’s greatest advocate and taking all other things into consideration, I will do whatever and all I can do keep her healthy. I would often see other children her age, bouncing around and so happy and go home with Ashlee and cry, wondering why she wasn’t happy or bouncing around. I blamed myself, blamed my husband, blamed Dr.’s and hospitals, blamed everyone. I now blame the disease. It’s rare, Dr.’s are still learning about it every day.
Now, Ashlee is a bright-eyed, curious, well-spoken 4 year old. She’s got a mind of her own and an independent streak to go with it. She’ll stand up for herself and what she wants, but give you the biggest hug of your life if she sees you upset. She bravely goes to the Dr.’s and announces she knows it’s good for her. She’ll wail as they draw her blood and then kiss them goodbye. She’s the most forgiving, good natured, well mannered, happy, funny, little girl you will meet. She’s an angel, a brave angel. My husband and I call her an “old soul” as she appears wise in so many ways and has been through more than a lot of older people have. She’s wise beyond her years, yet as playful and sweet as a young child should be. That’s our Ashlee Rose.
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Jessica
Hi I am Adrienne, I live in Bromley, Kent, England. I am the mother of Jessica who was born on 2 April 2000 (she missed April Fools Day by 37 minutes!)
Jessica is my first and so far only child. Her father and myself separated whilst I was pregnant, he still sees Jessica on a weekly basis.
My labour was absolutely fine, no pain at all, I just had a bit of a backache. Naturally I thought this is easy, why does everyone say it hurts so much. Then of course things started to go wrong and I had to have an emergency Caesarean; luckily my mum was with me. Jessica was beautiful. We had a room to ourselves and family visited all day. I remember that her hands and feet were shaking uncontrollably and my aunt, a nurse, kept telling the midwife in charge of me. All the midwife said was that she was cold and wrapped loads of blankets around her. Bearing in mind I was a new mother I accepted what she said. After visiting hours and alone with my baby in my arms, Jessica started shaking and then stopped. I called the midwife who took her from me and said she was cold and it was normal. I knew something was wrong; this happened three times. Jessica would not feed at all and hadn’t fed since she was born. I waited until shift change and a new midwife listened to me and Jessica ‘fitted’ in her arms. They checked her blood sugar level (BSL) and it was 0.3. They took her away to the special care unit and fitted a glucose drip immediately; I called her father he came back to join me.
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At this time nobody had any idea of what was going on, doctors included. After three days they contacted Great Ormond Street Hospital and we were taken by ambulance. We stayed there until Jessica was three months old. Jessica was fitted with a central line (Hickman line) for the glucose and drawing of blood. Our Professor, Prof Aynsley-Green was fantastic. Jessica’s father was with me and we wanted to know everything and the truth about what was happening. All medications were tried, Diazoxide, Octreotide etc and nothing worked at all. All this time I was not allowed to breast feed. I was desperate to do so but they had to know exactly how much liquid she was being given through an NG tube. I therefore expressed milk for 11 weeks. |
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Finally Jessica had a PVS performed. (Portal Venus Sampling) This was a nightmare. I had to hold Jessica whilst they gave her a general anaesthetic, she went very floppy in my arms. This determined that she was focal and not diffuse. Jolly good I thought, one operation and all over!!
No such luck.
A date was fixed for surgery to remove 60% of her pancreas. Two days before this she caught a line infection and a blood clot was found. I could see it on the scan passing in and out of her heart valve. The doctors decided she could not have her pancreatectomy until the blood clot was dealt with. By this time Jessica’s father was back at work and I was alone throughout the day. My mother travelled 2 ½ hours every evening to visit me after work. The Prof talked to me about open heart surgery to remove the line or just ‘pulling it’ out. The risks were enormous as it could have blocked her heart and she would die (the prof’s words). We had no choice and agreed to ‘pulling it’. That 20 minute operation was the worst operation I had to sit and wait for. It worked, we think, and she had another line put in it’s place. The clot was never found and they presumed it came out with the line.
The pancreatectomy was rescheduled and she was operated on the week after. Unfortunately it did not work and she was back on a glucose drip again. Once more all the medications were tried and once more none worked. After inspecting the 60% of pancreas removed we were told that the PVS had not worked and she was in fact severely diffuse. Apparently it was one of the worse diffuse cases the Prof had seen, at that time. Therefore a second operation was performed three days after the first and a further 35% of the pancreas was removed.
I felt awful just seeing my little baby lying there with morphine drips attached and whimpering in pain. The morphine was up to it’s highest but was not hitting the right spots, just another thing that went wrong!!!
The 95% worked. No more glucose. Only now her BSL’s were getting higher and higher. Insulin. That was a word I dreaded, I knew nothing about diabetes but I did know there was the chance she could be diabetic. She was and insulin injections started. The dose was minute, 0.0025 of a unit. (one unit looks like about 1 mm)
During the next ten days Jessica’s nappies started taking on a strange colour and after a scan it was decided her bile duct was blocked due to the two pancreatectomies. My poor little girl had to have a further operation, through the same wound, for a bile duct bypass. Once more, more morphine (which worked this time) and more whimpering. Jessica had had seven general anaesthetics by this time, I had held her each time as I felt she needed me to but I have to admit it was an awful feeling. Her ‘moved’ bile duct now worked properly but Jessica was now not digesting food properly. We knew this because of the colour, consistency and smell of her nappies. She was therefore put on Pancrex V which are pancreatic enzymes to aid digestion. They themselves stank! The capsules were opened and mixed with milk and syringed into Jessica’s mouth. They made her breath smell of cats’ wee and her nappies took on a most unusual foul stench. It was enough to clear a room very quickly.
I was still expressing milk and only producing about 1 fl oz a time. After 11 weeks of being attached to a pump I gave up. I rather think the doctors and nurses were pleased as they could talk to me normally now instead of me with a see-through pump attached to my breast!!!!
Jessica could come home. Brilliant! Firstly we got transferred to our local hospital so they could train me on insulin injections and testing BSL’s. The diabetic nurse introduced herself and gave me a BSL kit. I didn’t like it and she ended up letting me try about four until I found the perfect one for Jessica. I refused to come home with Jessica’s NG tube in place and as she had been feeding normally anyway by this time, it was removed. Injections I could eventually deal with but I could not bear the thought of inserting an NG tube. At the beginning of July 2000 I brought Jessica home.
Over the next year I had to take Jessica many times to our local hospital as she was running high temperatures. This is just one of the many things I have to think about as she could have an internal infection due to the bile duct bypass. We have been to hospital five times this year and stayed for a week each time; each time it has just been a childhood virus but it was better to be safe than sorry.
Insulin in young babies and toddlers is extremely difficult to manage. I was not aware and did not comprehend the difficulties that would occur. Until the child reaches school age they are changing dramatically all the time which means insulins and dosage have to be changed and you never get it quite right. Periods can go by where Jessica has been ‘hypo’ two or three times a day for a week and so we change yet again. In the end I just get used to it.
Today : Jessica is 20 months old and is the most delightful, happy, ‘normal’ looking toddler you could wish for. She thinks nothing of three insulin injections a day and BSL testing every 1 ½ to 2 hourly every day. She even holds out her fingers for me and points on her leg to where I should give the insulin injection. She is now on Creon 10000, another pancreatic enzyme which I mix with fruit before each meal. Luckily these don’t smell as much as the previous ones but they are not without their own unique smell. Still Jessica doesn’t moan, she just eats it up.
How I feel : My mum is my mainstay and is there if I need her. I know that this condition is for life (Jessica’s life) and she will not get better from PHHI. It is quite frightening but I have become hardened to it; it is a normal life for me, getting up at 3 am most nights to check BSL’s is not a problem. I get extremely tired, but don’t most mothers!! I would not under any circumstances change Jessica or her condition. I believe from the bottom of my heart that her lovely, happy character is partly due to her condition and I love her dearly.
From age 20 months to 5 years.
I wrote the first part of this story in December 2002, it is now April 2005 and a great deal of things have happened.
I have managed to keep Jessica out of hospital except for yearly ‘MOT’s’ at Great Ormond Street. These MOT’s just assess how she is doing on her insulin and digestive enzymes.
Over the last couple of years Jessica has been through many different insulins. One in particular worked for over a year, Novomix 30, with only two injections a day. Her blood sugar readings were not perfect but in mine and our doctors’ view, the best we could hope for. Then last December (2003) the Novomix just stopped working effectively enough. I changed to an old insulin, Mixtard 30, that I happened to have in my fridge! This was slightly better but not that good.
So in February 2004 we went to stay at GOSH for three days. They attached a CGMS to Jessica. This is a Continuous Glucose Monitoring System. Jessica thought it was great as she had a computer attached to her. She had to have a pager size monitor tucked in her trousers for up to 5 days which measured Jessica’s blood sugars every 5 minutes for 24 hours a day. I removed it after only 3 days and once we had the results back it showed that it had only worked for a total of 24 hours. It did show us that Jessica was going hypo overnight without me realising. This particular night she had dropped from a high reading (17.4) to a very low reading (3.2) by the early hours. This was not good.
I immediately changed back to the Novomix 30 insulin. Even though this was not working as effectively as it used to, it did not seem as dangerous as the Mixtard 30.
We waited for a free bed in Great Ormond Street. One came up in May 2004 and off we went for another weeks stay. This time we changed to a relatively new insulin, Lantus Glargene. This was new to us and also new to GOSH. It meant a whole new way of thinking with regards insulin injections and how many and Jessica’s general diet.
For the first few weeks Jessica’s readings were all over the place. The new Lantus is a constant insulin requiring one injection at the same time every day. We opted for 5 pm. It was like a background insulin running in her with only very slight peaks and troughs, not like other insulins which can rise and dip all over the place. In addition to the Lantus, Jessica would also need quick acting insulin to cover her mealtimes. Originally I tried to just give Jessica only two other injections making a total of three (including the Lantus). She had an injection of quick acting insulin at tea time and one at breakfast. I hoped the breakfast insulin would cover her lunch.
It became clear this was not going to happen and Jessica had to go up to four injections per day; one of Lantus (which we had to change to 8.30 am) and one injection of quick acting (Novorapid) after each main meal.
I received lots of advice from a couple of other parents on the internet whose children were on Lantus and quick acting. I have learnt very quickly to adjust the dose of Novorapid to the amount of carbohydrates eaten per meal. Jessica can now eat a normal diet. I then calculate the amount of insulin she needs to be given based on the amount of carbs that she has had. It is really complicated and I often misjudge. I have generally kept Jessica on the same eating plan as before, based around carbs and for Jessica pasta works best which fortunately is her favourite food. She still does not have any sweets at all but does have the occasional chocolate and ice-cream so that makes her happy.
As a result of this regime I now feel I have the best control of Jessica’s blood sugars than ever before. The majority are lower rather higher. I can now sometimes even tell when Jessica is too high as her behaviour is different. Before I could never see the difference as she was generally always too high.
Jessica still does not show any symptoms when hypo, so I still have to test her fingers every 1 ½ to 2 hours. I still have to stay up late at night to test to make sure she is safe overnight and then it is up reasonably early every morning for the 8.30 am Lantus injection.
At 5 years old Jessica is very aware of her condition. She can nearly do her finger testing herself and loads all the insulin pens herself. I still do the injections though. She is very good when it comes to parties and sweets. If anyone ever offers her a sweet, she either just says no or asks me. She is just great. Only once has Jessica ever said to me ‘I don’t want to be diabetic, I want sugar’ but that passed extremely quickly when I told her that she was special.
Unfortunately the wind has not stopped. She can still clear a room within 5 seconds! I have to say though that it is not as often. I am trying to teach Jessica in that little girls go to the toilet to ‘pop off’.
Jessica started school in January 2005. It was a frightening time for me. There were numerous meetings with the school and the local PCT (Primary Care Trust) and after a few hiccups Jessica is now settled into a routine. She has two carers to watch her constantly (one for the morning and lunchtime and one for the afternoon). There is a care plan in place and a community nurse gives Jessica her lunchtime insulin injection. The carers have been trained to test Jessica’s fingers and deal with hypos, which they have had to do a few times already. They also administer the Creon and make sure Jessica eats all her snacks and all her packed lunch. The school is fantastic, everyone has been involved and I am overwhelmed by the help and support that Jessica has received. Without this help from the school and the PCT Jessica would not be attending school.
The other major event in the life of Jessica disturbed me more than anything and left me with little faith in my local authority. I was informed that Jessica would qualify for a Blue Badge (the disabled parking permit). Most of the HI children in the USA have the equivalent, the same for the Irish families I know and also the English families. I applied to my local council and was refused. The criteria is so shaky that different councils interpret them in different ways. I fought for nearly two years for a badge. If Jessica collapses with a hypo whilst we are out then she cannot walk for sometimes hours afterwards. I then have to carry her, her medical equipment and any shopping we have. I need to be able to get her to the car as quickly as possible.
Jessica and I appeared on the front page of our local newspaper but still to no avail, our council were not budging. I spoke to the Department for Transport who agreed that Jessica did qualify under the discretionary criteria, this did not help me either.
Today : Jessica is an extremely happy, intelligent, well adjusted 5 year old girl. She is into all things pink and girly. She does ballet and swimming loves going to school. Her reading and writing is brilliant and she learns very quickly. She loves life and lives it to the full.
How I feel : I feel the same as I did when I wrote the first ‘how I feel’. My mum is still my mainstay and I do not know what I would do without her and my Auntie Linda. They are a tremendous support for me. I love Jessica more than ever and still would not change her, although a couple of ‘lie ins’ in the morning would be nice!! She is a delight to take out and quite happily amuses herself when I have to work at home. I am sure I will update this again in a couple of years and I often wonder what will happen next in our lives.back to top
Ellie and Tate
I am Julia, married to Darren and mother of Ellie and Tate; we are from Essex, England. Ellie was born in 1996 and has had two pancreatectomies, she is now an insulin-dependant diabetic and on pancreatic enzymes. Tate was born in 1999 and has had one pancreatectomy; he is also an insulin-dependant diabetic and on pancreatic enzymes.
Here is their story.....
Ellie was born full term, weighing 8lbs7oz, she seemed perfectly healthy. At home I was breast feeding, but I found I was unable to keep up with Ellie's demands - every two hours, day and night - so I started bottle-feeding as well as breast in an attempt to satisfy her appetite. This went on for a few weeks and my husband, Darren, and I were starting to feel the strain of constantly feeding, but whenever we spoke to a Health Visitor about the two-hourly feeds, they just advised us to try spacing the feeds out. Darren and I would leave the clinic laughing - space Ellie out, no chance! On two occasions, we found Ellie twitching in her cot and her eyes rolling, we thought this was wind and gave her colic drops, the twitching stopped. Then one day I went shopping, Ellie screamed out from her pram, when I took her out she had gone floppy and not responding. Thankfully, a restaurant employee telephoned for an ambulance. In the hospital Ellie had several more fits (seizures) over a period of 2 days, before they realised it was her blood sugars which was causing them. It took another two weeks before they told us she had Nesidioblastosis and we were transferred to Great Ormond Street Hospital; Ellie was 10 weeks old. During the two week wait at our local hospital, we were also told that Ellie had brain damage, we were absolutely devastated. On further investigation it was found that she had had a subdural haemorrhage, they were unsure how she had got this and not sure how this will effect her only time will tell; i.e. reaching her milestones. While in Great Ormond Street Hospital (GOSH), Ellie was put on diazoxide, this made little impact and they were unable to reduce the glucose IV or the continuous feeds of milk and maxijul. The decision had been made by all of us, to have a 95% pancreatectomy (the only option left). We finally went home with Ellie, medication free. This only lasted for a month, steadily Ellie's blood sugars got lower and lower. After several stays in GOSH for true bloods and fasting studies, Ellie went in again to try diazoxide and this time with Nifidepine. It started off well but over 2 weeks, the dose went up and the blood sugars went down. Ellie had to have another pancreatectomy, this time the whole lot was coming out. She finally came home at 8 months old an insulin-dependant diabetic on pancreatic enzyme supplements. |
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While in GOSH, we were told the likeliness of having another PHHI child, was thousands to one, they felt that Ellie was just sporadic. So 2 years later we went ahead and I became pregnant with our second child. During my pregnancy, I started to have low blood sugars and got quite concerned, I contacted several people, and all of them informed me it was probably nothing and my midwife told me to put the machine away, I was neurotic. Towards the end of the pregnancy, I had to have regular scans (not for PHHI, but for Anti-D problems), every scan the radiographer would comment on how big the baby was - I did not want to hear this, but still kept optimistic. Tate was induced 3 weeks early (because of Anti-D problems) and weighed 9lbs13ozs, I knew straight away, Darren insisted on a blood sugar being done, he was 1.6. So I then fed him, 15 mins later his blood sugar was 0.6. He went straight to intensive care. He stayed there for 5 days, before he was transferred to GOSH, until then our local hospital still did not believe he had PHHI.
While in GOSH, they put Tate on diazoxide, to no avail. They then added Nifidepine - nothing and finally they added Octreotide (Somatostatin) and glucagon, his blood sugars rose slightly but nothing significant. After three weeks, the only option left was a 95% pancreatectomy. When Tate came out of surgery, we were told that his bile duct had been pierced and so he had to have this section cut out and his bile duct replumbed (Prof Spitz's wording). It was horrendous, watching Tate recover, he became very jaundiced and it seemed they might have to go back in, as the bile duct was obstructed. Thankfully over a couple of days, the swelling went down and he recovered well. He went home at five weeks old an insulin-dependant diabetic and on pancreatic enzymes.
Ellie and Tate are the first recorded case in the UK of two PHHI children in a family.
Latest update:
Ellie is now 8 years old; she is still on insulin injections twice a day and takes Creon with every meal. Her subdural haemorrhage has now dispersed and she has reached all her milestones. We are finding she is struggling with numeracy and so we pay for a Tutor to come once a week to help Ellie. Once a week is not enough, unfortunately it is all we can afford, but it does help.
Tate is now 6 years old and is also on two insulin injections per day and takes Creon with every meal. In 2004, Tate had two seizures and we are unsure if they are due to epilepsy or not. We are just keeping an eye on him to see if he has any more. At the beginning of 2005, Tate’s teacher spoke to us regarding her concerns with Tate as she feels he may have A.D.D. Attention Deficit Disorder, which does not surprise us. So we are now going through the long process to get him assessed.
Despite this bad start to their lives, both are thriving and living life to the full.back to top
David
David entered our world in April 1998, at the John Hunter Hospital, Newcastle. His diagnostic process was lengthy during which BSLs were not maintained above 2.5. If BSL's are maintained below 2.5 (40) for more than four hours then organ damage can occur. Predicting neurological outcome at the best of times is difficult, so adding hypoglycaemia into the equation makes it twice as difficult. However, David has tangible proof of damage, which is a cataract in his left eye. He also has complications with his left leg, due to a blood clotting in a vein while on glucose infusions. David's BSLs were controlled with diazoxide, but now he is maintained by feeding only. Although his appetite was very good when young it has deteriorated in the past year.
My pregnancy was uneventful, I felt terrific throughout and had no morning sickness. In the last few weeks I had toxaemia (pre-eclampsia) and also an insatiable appetite. The toxaemia was symptomless, and I reached the stage where my Doctor wanted me to rest completely and threatened hospital admission to ensure my compliance. After one visit to the doctor (where David was progressing fine during contractions), he told me to contact him anytime day or night, for any reason whatsoever, no matter how minimal it was. A pain under my rib cage kept me awake all night, so the next day I met him. The monitor showed that David was stressed during contractions and my blood pressure had risen again, affecting cord pressure rates, so I was admitted to hospital. David was born by C-section, and although surprised at how small he was, 5lbs 10 oz - 2.75kg, (I was amazed that he seemed so perfect). The midwife, when she handed him to me after he was delivered and had been weighed and measured, said "He is one ounce over the minimum mandatory testing weight for blood sugar levels." At the time I thought "Why tell me if it is of no consequence?"
He displayed jitteriness at birth, but as no-one paid attention
to it, I assumed that it was normal. At 1400, he breastfed very
well in recovery, earning the nickname of "gummy shark".
Later on the nurses came in and woke him up to get him to feed.
I was wondering why they were so interested in waking a sleeping
baby! I had intended not to feed him until he woke, and cried
for a feed. David wouldn't take the breast and he just cried and
cried while they tried to make him, and then returned to sleeping;
they left him for another few hours. Again he didn't want to feed;
the nurse commented that he was shaking, which meant he had low
blood sugar, so she had to get some food into him. She promptly
cup-fed him 10mls of formula. Twenty minutes later he promptly
brought it back up again. Another nurse on the next shift came
in at about 2330 and again David refused the breast, so she attempted
to bottle feed, without success, even after changing teats. She
commented that "The poor wee thing is too small to have developed
a suck reflex". Upon being informed that he had a very good
suck reflex in recovery, she said "Oh. I will just go and
test his BSL". She returned a few minutes later without him
and calmly informed me that "his BSL was "a wee bit
low, so I have taken him to Intensive Care". I became somewhat
alarmed upon hearing this but my husband and I were informed that
it was quite normal for babies who were stressed during labour
to have low BSL's, and that all they needed was a run through
of a bag of glucose over night and they would be as "right
as rain" the next day. The next morning we both went up to
NICU, expecting that we would be able to take him back with us.
"No", we were informed, "he hadn't quite responded
the way we had expected so we are running through more glucose".
That night David was admitted to the highest level of NICU care
and long lines were inserted in his legs to deliver a higher concentration
of glucose than can be delivered through the standard IV. Unfortunately,
the line in his left leg became clotted, cutting off circulation
to the leg, so that it swelled up to several times its original
size, and turned an amazing shade of blue. While it was swollen
it was immobile, and that immobility for several weeks was to
cause other problems later on. After many tests, and continuing
amounts of glucose having being delivered at increasingly higher
rates, a provisional diagnosis of Hyperinsulinism was made. During
this time his BSL's were maintained in accordance with the hospital
protocols, which were unfortunately set at below 2.5 (40).
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Then a fasting test was conducted on David. We then learned another lesson of HI - if a routine is taking effect, don't adjust all the components of it at once! David crashed on his fasting test, so he was back on the diazoxide, along with the full breast/bottle/formula feeding routine. This took 2 ½ hours to complete, and David was on a three hour feeding schedule. He passed his next fasting test, and also the glucagon test! He was finally discharged from NICU 4 weeks after he was born, just 24 hours before my husband Michael left to go overseas, so we were all able to travel together. Until then, David and I were going to have to remain behind in Australia for a three month monitoring period on David before joining Michael. I did have concerns about whether I was doing the right thing, travelling to a foreign country with such a small baby, but I knew that there would be a support network there, as I was involved in the initial establishment of one for military families when living in NC during the 80's. I was concerned about what level of medical support would be available, but when we arrived in the USA, the Endo had made contact with another Endo at UAB Children's hospital. We saw her within a couple of days, and she was treating other children with HI, so I knew that we had come to the right place.
On arrival, the Endo increased David's diazoxide to 30mg/day. Tests also showed liver disfunction, cause unknown, but it wasn't overly serious, and it was closely monitored. He already had signs of the hair growth, even at 4 weeks, so it increased rapidly. He was maintained on his 4 hourly feeding schedule for a very long time. Also, I was having trouble producing the right amount of breast milk, which was a surprise to me as I come from a long line of good "milkers". David also wanted to sleep through the night from an early age, about 6 weeks; having to wake a sleeping baby to feed him went against every baby rearing principle I had decided on!J One night it took over 1 ½ hours to wake him, as he was so soundly asleep! Unfortunately the support network I had envisaged was not available, so it was a very, very difficult time for us; especially when Michael was deployed during our time there. However we struggled through, and all of us survived.
David's growth rates brought him up to the 50% on the charts by age 5 months. His BSL's remained stable for the whole time. At his 6 months Paed check up I remember leaving the office, and thinking that we had made it to 6 months, and none of the dire predictions about his BSL's and HI had actually happened. I thought that I might then be allowed to keep this baby. He also had sudden growth between 5 ½ and 6 months, going to the 90% for height and 98% for weight. His diazoxide dose remained unchanged, so as he started to outgrow it, the hair growth slowed down. He did have gorgeous Elvis sideburns, but the hairy legs and knuckles were a bit different. I was waiting for the chest hair, as I was going to take a photo, so that he could boast at a later stage, that he had chest hair while in nappies! J
At 7 months the Endo decided that we could try to stretch his feeding out for one of his overnight feeds, but to do that we had to test his BSL at the 4 hourly mark and if it was fine, then we could wait until the 5 hour mark, test him again and feed him. Once we had over a months worth of data and he was stable we could move that feed out to five hours, and then start collecting data for the next feed time. After another couple of months, we were able to push out that feed to six hours, then seven, then eight. That was absolute bliss. Then at the 11 months check up we were able to reduce his diazoxide by one third, by missing out the daytime dose. Throughout all this his HBA1c remained in the good range, and increased at some stages. His liver function returned to normal at 8 months, by which time his diazoxide was less than 3mg/kg/day. At 13 months, his HbA1c showed an increase, and the Endo advised that we could cease the diazoxide as it was no longer an effective dose. David's BSL's remained stable, and he continued to grow.
He always had a healthy appetite, until about 2 1/2. Then his appetite dropped by about 2/3, and his growth rate slowed. At 3 his appetite decreased even further, and we went through the nightmare of his not eating. It would take 2 hours to feed each meal, as he just wouldn't eat. Eventually we reached the stage where he was taking up to three hours to eat breakfast, so the Endo advised to just let him eat what he wanted when he wanted, and test him more frequently. This was because food would be so crucial to him for his whole life, that he would need to develop the proper cues of hunger, feeling full and feeling empty.
David's leg problem from the clotting with the IV line created all kinds of problems, which influenced his walking, and could have been avoided had therapy had been prescribed earlier. I raised the issue of his leg mobility at each appointment was told that it would resolve itself and not to worry. It was not until David failed a developmental milestone (jumping and hopping on one leg) that anyone began to take action. We were then referred to a physiotherapist. The physio prescribed therapy to do at home on him for a half hour a day. After a couple of months he was fitted for an Ankle/Foot orthotic, and therapy was increased to an hour a day. This has had a great rate of progress, and he may be able to have an increased range of movement. He has jumped using both feet once, but only the once. Still it is a start, and his range of movement with that foot has increased.
David's cataract presented itself as a "lazy eye" at about 10 months of age. However, none of the doctors listened to my concerns at 10, 12 18 month checkups. At the 2 year checkup his eyes were noticeably drifting, so it was decided to refer him to a specialist. As it was considered "only" a lazy eye, the waiting time to get in was 6 months. The specialist dilated the eye and discovered the cataract. We commenced patching, which was very, very difficult, as David was blind when patched. However, we persisted and he has got used to the patch. We moved house and changed Paediatric Ophthalmologists, and the new Ophthalmologist prescribed some vision therapy exercises for David which he should do at home with my assistance. That has now been increased to 2 hours of therapy a day, and it has paid off. David's vision has gone from blind to 6/9 (20/40) in his cataract eye. As the cataract hasn't grown, and is not obscuring his sight, then it will be left alone, as the surgery would carry more problems than it will overcome.
David has had only two hospital admissions since discharge from NICU, once for rotavirus, where his BSL's just crashed from vomiting, so he was admitted, and then the rotavirus presented. Then two weeks later he was admitted for appendicitis. He has been back on diazoxide once when he had gastro which stopped him eating very much, and also a mystery virus, which also stopped him eating and had exceptionally high temperatures. We prefer to monitor him at home and keep him at home for as long as possible, rather than take him to hospital. However once he reaches the low levels, we don't mess around, as he can crash quite quickly once he reaches the lower BSL's.
This tale does sound as though David has had a bit of a rough
start in life, but through all of it, he has rarely failed to
be a happy outgoing, loving child. He is full of the joys of life,
does all the standard little boy things, and while not really
liking having his BSL's done, he has tolerated all the other things
done to him in the name of good health, without losing his sense
of humour. He is a very sunny child, who also sleeps like a brick,
and wakes up happy and eager to start each day. As he has got
older management of HI has changed and become less intense, and
he leads a relatively "normal" life. However, I am not
complacent about this condition, since it is not known when it
will leap up and "bite".
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Lisamarie
My name is Lisamarie and I was born with Hypoglycaemia with Islet-Cell Hyperplasia Hyperinsulinism. This form is Leucine-Sensitivity. I was born in 1971 and am now 33 years old.
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I am the second youngest of 6 children. All my siblings are healthy. I was put on many different types of medication while growing up. Some of them are Phenobarbital, Depakene and Diazoxide. I was in and out of hospitals. I was about 3 months old when my parents took me to the hospital in Alaska because I was having seizures and staring spells . The hospital had me hooked up to lots of machines. They told my parents that I would probably be a vegetable for the rest of my life. My parents got upset and took me 3000 miles to a hospital in Minnesota. That is where
Dr. Richard A. Ulstrom
finally diagnosed me. They surgically removed 2/3 of my pancreas thinking that would solve the problem. I was put on Diazoxide after the surgery and stayed on it until around third grade.
Between the ages of 1 to 5 years of age I was back and forth to the hospital.
My mother said she then stopped the Diazoxide as it did not seem to be working, I was still having seizures. When I reached about 14 years old my mother put me back on Diazoxide to see if it would start working again. It did not so I came off it again. I was on a low protein diet at the time. I could not eat seafood, fish, or dairy products . When I reached the age of 26 I went back on Diazoxide. When I fell pregnant I took myself off it as the doctors told me it could harm my baby. After I had my two children, I was having so many seizures, that I tried the Diazoxide one more time but it still was not helping to keep my blood sugars up.
In 2004 after my mother had passed away, I was doing research on my computer and came across the doctor who originally diagnosed me. Amazingly, although he was about 80 years old and long since retired, he remembered me and recommended other doctors who could help me. I eventually came to The Children's Hospital of Philadelphia (CHOP). I made arrangements to go and see Dr Stanley, the specialist. They ran lots of tests on me. I was in the hospital for 5 days. I was put on oral Diazoxide with an increased dose.
After a few days on the oral Diazoxide I started getting migraines. I did some more research on Diazoxide and found Diazoxide Capsules in Canada. I ordered them and they have been working wonderfully. My blood sugar levels are now between 68 mg/dl to 159 mg/dl (3.8 mmol/l to 8.9 mmol/l). Before, my blood sugar level went as low as 14 mg/dl (0.8 mmol/l) and no higher than usually 60 mg/dl (3.4 mmol/l). My body had adjusted to having such low blood sugar levels that I would not ‘get the shakes’ until it was down to around approximately 20 mg/dl (1.1 mmol/l). My doctor in Alaska had told me that if an individual's blood sugar level goes that low, then they would be in a coma.
Dr Stanley diagnosed me with a genetic form of hyperinsulinism due to a mutation of the glutamate dehydrogenase gene. This genetic disorder is also known as hyperinsulinism/hyperamonemia (HI/HA) syndrome. Due to this condition and all the seizures I have had, I now have three areas on my brain that are affected, causing brain damage.
Growing up with this condition was not very easy for me. I had a very hard time in school. I went to Kindergarten twice, first grade twice, fourth grade twice and seventh grade twice, the other years I managed to do just the once. I quit school in the ninth grade. I was always so tired in school that I just could not concentrate at all. I had a very tough time. I had speech therapy whilst at grade school. I had many petite and grand mal seizures growing up but for the most part I had a pretty normal life, it just took me longer to learn things. I could not participate in PE because it wore my body out. Instead I got to help the teachers copy papers and help with school activities. I had to get up at 4.54 am every morning to get ready for school. It was a 45 minute bus ride to school. I would sleep on the bus on the way there and again on the way back home. When I got home, I would lay on the couch and sleep for hours because I was so tired. As I had such a hard time in school, I didn't graduate with my class. I found out later on that stress and anxiety can also cause my seizures.
I got married in 1991 (and divorced in 1994). In between that I had two healthy sons and normal pregnancies although I did have to take many vitamins, as I could not have any protein products (this was the same for when I was a child). While I was in labour with my first pregnancy, my blood sugar level dropped rapidly. My first son was born in Ohio. I don't remember much at all. I just know that I was 9 months pregnant and went to hospital. I was told I blacked out for 3 days, so that by the time I got to hold my son he was 3 days old. I don't remember, but that is what I was told. The hospital knew I had low blood sugar levels. I did not actually see a doctor while I was pregnant. My husband was military at the time and I did not like the military doctors and I could not see a regular doctor so I just did not see one. As the hospital had not seen me before they did not know about my condition. They were told by my husband that I had low blood sugars, that was all. My second pregnancy seemed harder to me. I was 9 months pregnant and I went to the hospital. I was induced and in labour for about 10 to 11 hours, I was exhausted. I was in the hospital for 3 or 4 days after having my son, so they could monitor me. Neither one of my boys seem to have the condition.
I have tried working in the past but I have never succeeded. When I was a dishwasher in a cafe, I had a seizure. When I worked in a daycare, I was always so tired that I would sleep for long times. I applied for Social Security Disability and was turned down because they said that I had not had enough seizures in a year.
I have brain damage from the seizures due to the hypoglycaemia. I have a very hard time remembering things and I am slow at learning. I have long-term and short-term memory problems. I can be told something, depending on what it is, and within 2 to 3 minutes I will forget it. I can visit a building many times and every time I will forget how to get there. I have to write things down to remember them a lot of the time and sometimes I either forget to write them down or I forget where I put the paper that I wrote it down on. My memory is just awful and it does make life hard but thanks to my family and their wonderful support, I manage.
I thank God and my parents that I am still alive. I live an almost normal life I just have some added complications. Somehow I managed to deal with everything that was thrown at me as I grew up.
Later in my life when both of my sons were about 1 year and 2 ½ years old, I joined Job Corps. Unfortunately I was medically terminated due to my condition.
Generally I do lead a pretty good life. I actually feel blessed that I have the condition I do rather than something else which could have been far worse. I love my life. , I am grateful to my fiancé Allan who helped me with my condition and I thank God for everything that I can do and that I have achieved.back to top