Congenital Hyperinsulinism International

HIstories: Aleigha’s Story (told by her mother)

stories from people with congenital hyperinsulinismAleigha was born June 8, 2006 at a maternity ward in Augusta Maine. However it was an unusual labor. I had a stress test on her due date and was sent home by the nurse after some difficulty to get a response from her. Once the doctor saw the results, I was called back to the hospital immediately. A slight drop in Aleigha’s heart rate occurred every time there was a contraction. Dr. Lucas informed me that the little ones were the ones to worry about and I was to be induced at once. The induction brought on sporadic and intense labor. After seven emotional hours, a gorgeous, dark haired, pink skinned, eight pound baby girl made her way into this world. And she was hungry from the start. I breastfed my son for a year and wanted to do the same with my daughter. For some reason Aleigha had a hard time latching on. I worked endlessly with the lactation consultants until we knew she was getting enough. But she could never seem to get quite enough. I was sent home once Aleigha was given a clean bill of health by the pediatricians.

Aleigha never really slept well and she was always hungry once she was home. After three months of breast feeding, I was no longer producing milk because of her excessive drinking. The switch to formula earmarks the beginning of my awareness that something just was not quite right. Aleigha never slept through the night. She would feed one sometimes two times a night and would be extremely ill tempered. There were times when it looked like she saw through you and never really looked at you. She rolled over once at two months old and never did again. She could grasp at things at four months but never able to hold them for a length of time. Everyone thought I was paranoid and she was fine. I brought her into the doctors and they would ask me what was wrong. My only response was “something’s just not right. It’s not normal/typical behavior.” There was one time I can remember that her eyes were staring to the left and I could not get her to look at me no matter how hard I tried. Yet, every time the doctors would look at her she would just lay and smile and kick her feet. I would be told there was nothing wrong and just go home. I stopped calling the doctors for a while until something happened December 8, 2006.

The baby was hungry and fussing for a bottle. She looked kind of dazed so I removed the bottle from her mouth. But Aleigha’s mouth didn’t stop moving. I had a really bad feeling that something was wrong, therefore once again I picked up the phone and called the doctors. “I don’t know if I should just ignore it again” I said “I’ve been calling for months and I’m not trying to be annoying but her mouth keeps moving after the bottle is removed.” Dr. Kammerer asked if I could meet him at the office in fifteen minutes, which was closed during that time. I rushed in as fast as I could legally go, and maybe a little faster. Dr. Kammerer took Aleigha in the back and performed some initial evaluations. He pulled her toe and when Aleigha only whimpered, she didn’t cry or pull her foot back in response, the doctor pronounced her catatonic and lethargic. His next response was “Will you meet me at the ER?”

My heart sank at the words. I spent so much time trying to fool myself that everything was ok for so long. Now someone else saw what I saw over and over again and all of a sudden it’s an emergency! I was calm and collected on the outside, but inside I was hysterical. The emergency room was waiting for us when we arrived. Dr. Kammerer came soon after and started ordering different tests. Tests that the lab technicians never heard of. I was impressed with his efficiency and attention to detail. After some time, he told me Aleigha’s blood sugar was 30 mg/dl (1.6 mmol/l) which meant it was severely low. He explained normal sugars range from 80-100 mg/dl (4.4-5.5) and even 70-120 mg/dl (3.8-6.6 mmol/l) was ok, but below 50 mg/dl (2.7) she was hypoglycemic. We fed Aleigha, waited twenty minutes but the sugars would only stay around 50 mg/dl (2.7 mmol/l) and no higher. Dr. Kammerer spoke with the Director of the Barbara Bush Children’s Hospital in Portland Maine and they decided that Aleigha should be seen there. It was a Friday night so we had to wait till the next morning to see the director who took Aleigha’s case, personally. Meanwhile an IV was given of dextrose 10% to keep her “stable.” I had no idea what to expect in the days to follow.

The next day I saw a geneticist. “Assuming Aleigha didn’t consume alcohol, the most likely reason for her to be hypoglycemia is a metabolic disorder that doesn’t allow her body to break her food down into glucose.” She informed me. There was a blood test that would tell us if that was indeed what was causing her symptoms, however the results would not be in until the next Tuesday, 12/12/06. On Sunday I was told that chances were she had the metabolic disorder and I could go home to wait for the test results. I felt inside that for some reason they were wrong. I told the hospital staff I was uneasy with the idea of her sugars being only 30 mg/dl (1.6 mmol/l) two days prior and I wanted Aleigha to be observed until we had a plan to manage them. The hospital did not fight me and we were allowed to stay. Tuesday came and the test results came back negative. Aleigha did not have the metabolic disorder, so the director called in an endocrinologist, Dr. Allen Morris. I met with him that Wednesday and he said there were two possibilities for the hypoglycemia. One was a rare hormonal disorder and the other was another rare disorder called congenital hyperinsulinism (HI) . Although they were both rare, testing for HI was his first choice. He wanted it to be started that night and read the following morning.

real stories about people with congenital hyperinsulinismThe test was a fasting test where Aleigha was allowed nothing but water for eighteen hours. After six hours they would test her sugar levels and ketone levels. Ketones are produced when a body is “starving” or fasting too long and the body begins to pull sugar that is stored in the liver. If her sugars dropped below 50 within the eighteen hours, a medicine called glucagon would be administered. The glucagon releases stores of sugar in the liver to dramatically increase sugar levels. If Aleigha produced ketones, lasted over fifteen hours, and had no response to the glucagon then she did not have the disorder. The IV was removed and the test began. Aleigha failed the test at ten hours with sugars 45 and once the glucagon was given, her sugars rose to 280. Aleigha was diagnosed with HI.

Throughout our hospital stay, I rarely left Aleigha more than twenty minutes other than to eat or smoke. My son stayed with my mother who brought him often. When you spend more and more time at a hospital, days turn into nights without notice. The lights never go out and Aleigha didn’t sleep well still. Needless to say I got to know the night staff really well and was thankful for all of the wonderful nurses at Barbara Bush. They helped me more than they could ever imagine. I felt like I was just going through the motions without really feeling what was happening. I stayed in the moment and did what needed to be done. The nurses let me take over Aleigha’s care as much as possible. I checked her sugars, reset IV pumps, followed the monitors and knew what every squiggle meant. I even charted her diaper weight for the nurse staff to make sure she was eating and drinking enough. The following two weeks were spent trying to stabilize Aleigha.

First treatment offered was It is an oral medicine given two times daily. Aleigha hated it. She would spit up and get sick. We were forcing it down her throat, I hated doing it, but I had to. Her sugars did start to stabilize, however not for long. Just as they were about to release Aleigha, hypoglycemia reared its ugly head. They placed her on the maximum dose and when that failed they gave her a few days to get the medicine out of her system. The second treatment that was tried was called octreotide. It is an injection medication that they wanted her to have twice daily. At this point I refused to give her the shot myself. I had hurt her so many times already and I didn’t want to do it until I knew it was going to work. I still monitored her sugars, but left the medicine to the nurses. At this point Aleigha was having a hard time keeping an IV in. Her veins were all used and one day it took eleven hours and seven different people trying before an IV stuck. The doctors decided to try a PICC line (a long IV in the leg but also can be in the upper arm). When it was discovered Aleigha’s veins were too small, a central line was placed in her chest. Both procedures required Aleigha to be put under anesthesia. The central line was the hardest because after the surgeon brought her out, he waited five minutes, ordered an x-ray, and found out is moved. Aleigha was immediately placed under anesthesia again. She finally had a semi-permanent IV where dextrose concentration could be at 30% giving her less fluid with it which helped her eat.

Similarly to the diazoxide, the octreotide started and then failed to help. In addition, the injection cause alopecia and Aleigha began to lose clumps of hair. Once that medicine failed, Dr. Morris decided there was no alternative but surgery. HI is caused by abnormal cells in the pancreas secreting more insulin than necessary. There are two types: diffuse (all pancreatic cells are affected) and focal (a group of cells which is called a focal lesion). Depending on the type would result in how much of the pancreas was to be removed. Luckily one of the specialists from Dr. Morris’ office did his residency at the Children’s Hospital of Philadelphia’s (CHOP) Hyperinsulinism Center and kept in contact with them concerning Aleigha’s case. The only way to know which type of HI my daughter had was to send her to the HI center at CHOP for a special PET scan. After it was decided she should go there, it was time to convince the insurance there was no alternative. Even the surgeon that performed Aleigha’s central line wanted to know why he couldn’t be the one doing the pacreatectomy. But there was no way for him to know if it was focal or diffuse and that would have meant my daughter having more of her pancreas removed then was necessary which could result in diabetes or more hypoglycemia. Next it was just waiting for approval which took more than a week.

During the wait, Aleigha spent her first Christmas at Barbara Bush. Child Life (a program for development) sponsored many activities. The Boston Red Socks came to visit, Miss Maine and Teen Maine, Santa came twice, the State Police came with with large donations, the Portland Pirates Hockey Team, Nascar, and other great people showered the hospital patients with gifts. In addition, my congregation at St. Joseph’s held many fundraisers for Aleigha totaling more than $3,500. A prayer chain was started by my family and stretched the entire US for Aleigha. The hospital tried to send as many families as they could home for Christmas so the staff moved us into a single room for privacy. Blessings were pouring in left and right. I knew that it was all happening for a reason. No matter how hard it was to have my almost seven month old face surgery, I didn’t want to think of going home forcing those hard medicines on her everyday until she may “eventually grow out of it.”

The most difficult day of the entire experience occurred the day after Christmas. All doctors were on vacation and there was only a resident doctor on site. Aleigha would not wake up. I couldn’t get any response even to eat. As panic set in, I could see worry on the resident’s face and I yelled, “Glucagon!” He agreed, so he gave her the shot and within ten minutes she was awake in my arms. It was the first day I let it all get to me. I was not only scared to death of Aleigha going into a coma, but frustrated that we were there almost a month at that point and things were still that bad. On January 3, 2007, Aleigha and I boarded a leer jet with two paramedics, a travel nurse sent from CHOP, and two flight nurses bound for Philadelphia.

Once we arrived, we were immediately placed into an ambulance headed for CHOP. Then it was a waiting game. I was offered a room at the Ronald McDonald House in Philly, but still opted to stay with Aleigha. They wanted to redo the fasting test to make sure they witnessed how she could go hypoglycemic. I was irritated at this because she had been through so much and her specialists in Maine kept such careful records, but if they needed proof and they got it. This time she lasted almost 13 hours (oddly, since her sugars were notated as all over the place) but it did reassure that her diagnosis was accurate. That meant surgery was on. At CHOP we had our own room directly in front of the nurses’ station on the endocrine floor (eighth floor above the ER entrance). They said that all HI babies are placed there for monitoring. I felt a little more at ease there. Everyone was acquainted with the disorder. In Maine, Aleigha was the case all the residents were interested in because it was so rare but at CHOP it seemed to be common knowledge. It was reassuring, especially since they had a video ready for me to watch giving more information on the disorder and getting me familiar with the doctors involved in the research. Dr. Stanley (head of research) personally introduced himself. He explained the PET scan Aleigha needed and directed me to Susan Becker, nurse coordinator.

Susan set up the PET scan and walked us from CHOP to University Hospital through a tunnel underground where the test was done. Aleigha was sedated and injected with a special dye called F16DOPA that would light up on the scan anywhere there is extra insulin secretion. It has a half life of two hours and was developed specifically for Aleigha. Her size, weight, and other factors went into its creation. As a result, we found that Aleigha had a focal lesion in the head of the pancreas. Now Dr. Adzick, the surgeon (only surgeon HI center uses), had an idea of where to look for the lesion. If the surgery had taken place in Maine, chances are Aleigha would’ve had up to 98% of the pancreas removed leaving only the head (which is where Aleigha’s lesion was) leaving her still hypoglycemic. The surgery was performed January 17, 2007. I was told the surgery would be a few hours, it lasted over four. I was sick with worry, however when the surgeon came and spoke with me, he said it took so long because he had a hard time finding the lesion. It was tucked up under the head of the pancreas and very “impressive” for being really small. There was a good chance he was going to have to cut the intestines as well, but luckily the lesion was small enough and that meant easier recovery for Aleigha. Although her appendix was in the way and removed.

Next was to wait for her body to adjust before they could redo the fast test. We were stuck in the NICU (new born intensive care unit) for over a week because all the rooms on the endocrine floor were taken. I was thankful because Aleigha had a one-on-one nurse and I got to get some rest. My Mom came to visit as did my brother from Tennessee. I was lonely and being so far away from everyone I knew and playing advocate against a hard nursing system at CHOP, I was warn out. Having my mother around gave me the emotional support I needed. We were hoping to fly back together but Aleigha took a little longer than expected. They waited a week for the test. This time she lasted 15 hours, produced ketones, but still reacted to the glucagon. It was very atypical. Generally a person will only go hypoglycemic after all the stores in the liver were used, however Aleigha used some stores but not all. She jumped 40 still after she failed the test. The team decided she was safe enough to go home, but not yet pronounced cured.
During the stay at CHOP, Aleigha developed an aversion to formula. An NG (through the nose) feeding tube was used to feed her. I met with the nutritionist on starting solids after her surgery. She would eat veggies but refused formula because of all the forced feeding over the past two months. Shortly after returning home, she again began taking the bottle again. It was difficult feeding her that way, but at least she got what she needed. The money donated by the church was our plane ride home. Once we were discharged, it was up to me to get back from Philly. Things worked out in miraculous ways. After returning home, February 2, 2007, I had to wait four months before we could redo the fasting test one last time. This time we went back to Barbara Bush with instructions from CHOP. On June 15, 2007, seven days after her first birthday, my little Aleigha was pronounced cured! After maintenance for about six months, I was told I no longer needed to check blood sugars. I know Aleigha and I both are so very lucky for the way everything turned out. Things could have gone in so many different directions. I was blessed that she had the focal type, that it was removed, that the medication didn’t work, and that she had great doctors and many people praying for her.

Our journey was far from over. As a result of the prolonged hypoglycemia, Aleigha crawled at nine months old, but was walking by thirteen months. She has suffered numerous night terrors and sleep disturbances. I was concerned by some of her behavior. Aleigha began hurting herself by banging her head and biting her hand. She could get extremely excited and yell constantly. She would stuff her mouth and not know when she was full, and couldn’t handle too many people or noises (especially afraid of animals). I called CDS (children’s developmental services) and they came and screened her. They told me most of my concerns were in the sensory processing area and that she should be next evaluated by an occupational therapist. Aleigha scored more than two standard deviations away from the mean in eight out of ten sensory avoidant/seeking areas. Under early intervention Aleigha received OT until her third birthday. Once she was three services turned into special education and I was told that since Aleigha developed gross/fine motor skills and speech on target, then there were not enough persistent problems to continue her funding for OT. The use of melatonin helped me get her on a sleeping schedule. I studied all sensory interventions and continued therapy at home by myself.

Since then, the past two years, Aleigha has made incredible strides. She now sleeps through the night (as long as she has no nap), and her meltdowns are kept at a minimum. She used to have multiple fits a day and now maybe one a week. She is still really intense and sometimes loud, however, her vocal ability allows her to use words instead of actions to vent her frustrations and joys. Looking at her, you would never guess what she has been through in her short time on this earth. She is a miracle in every sense of the word. She endured more in her first year of life than others have to in a lifetime. I hope other children dealing with this disorder have the same chances she was given: a chance of a life without hypoglycemia.

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