A more accurate diagnosis - Not Type 1 - Neonatal Diabetes

Dealing with diabetes is hard. Looking after a newly diagnosed baby is harder. How much was she drinking at a Breastfeed? I guessed. I had no idea of how she was feeling. I most probably missed lows and highs because I didn't test at exactly the "right" times but we made it through. After Miss F was discharged daily phone calls to the on-call Paed endo and more education session at the hospital were the new "normal". Miss F reduced her number of feeds in weeks after diagnosis so much. From 5 breastfeeds and 3 bottles every day to 3 breastfeeds and a bottle if she was low in a just a month or two.


We gradually reduced the calls to the endocrinologist and started making decisions about insulin dosages ourselves. I worked out how much food she could have for snacks without making her blood sugar spike with her long acting insulin and how much short acting insulin she would need to cover her meals. I tried to keep the times of her breastfeeds fairly constant to make that as predictable as possible in amongst balancing the carbs of her meals and insulin doses. It was quite hard to come up with low or no carb foods suitable for a baby that has just started solids. As I introduced foods I had to worry about how much of it she ate and if she spat some out.

We had to lance her skin at least 5 times a day to test her blood. Usually it was more because if she was low you would need to check again later to check that the apple puree or juice we had used to treat the low had helped bring up her blood sugar. If she wanted to eat something we would need to check her BGL to see if she needed more insulin to cover the food or try to work out if she had enough insulin in her system to cope with extra carbs. Sometimes I would look at her beautiful little legs before I put an insulin pen into her but know I had to do it to keep her alive.

I had certainly never heard of Neonatal Diabetes but I remember asking one of the diabetes educators at the first education session after hospital admission if there are other types of diabetes. Ones not caused by an auto-immune response but with something going wrong in the pathway to producing insulin. Little did I know how close to the truth I was.

When she was diagnosed with diabetes I felt we were given lots of information about managing diabetes in children but not infants. I think there was one page on toddlers in the book we were given. Most of my search for information centred around infants with diabetes. I searched and searched the internet. I came a across a bit of information about Neonatal Diabetes. After looking at some of that info I thought it sounded a lot like Miss F. Low birth weight, Failure to thrive, urination, presentation of symptoms before six months, etc. One things I wasn't sure about was if she tested positive for auto-antibodies at diagnosis.

I wanted to her to get tested immediately but I had to make an extra appointment to see a Dr at the Clinic to be able to discuss doing DNA testing as I didn’t want to be waiting the 3 months to the next appointment to get the ball rolling. I asked about her antibody results. Once the Paed Endo #2 looked at her initial test results and saw that she had no antibodies they were happy to do the tests
At diagnosis one of the younger doctors asked Paed Endo #1 if they would do DNA testing. He said not yet. I didn’t even know why DNA testing would need to be done. So the tests were done and the wait began. I did more searching for information about the various forms of Neonatal Diabetes. It became clear to me that some forms responded to oral medication and other didn't. So I spent a lot of time praying that it would be a type that responds well to oral drugs. The more I read the more I was convinced Miss F would get a positive result I just wasn't sure which type of Neonatal Diabetes it would be.

Breast feeding a baby with diabetes made it a bit harder as she stopped taking each feed. I had to make sure she was getting enough other food so it wouldn’t affect her blood sugar levels.
While we were waiting to the DNA results Miss F had her first birthday and we definitely wanted to celebrate her making it through her first eventful year. At her first birthday party we had to test her BGL and give her more insulin before she could have even a piece of her cake.

Also while we waited Miss F and I went to Camp Diabetes. It was so helpful meet other parents and receive more education. The JDRF peer support person I was assigned encouraged me to go on camp and meet others. It was the best advice I have received.

After I was given the positive DNA results for KCNJ11 (Kir6.2) R201H our next appointment was made for late December. I asked Paed Endo #1 if I would have to wait until then to find out more and he reassured me that they would be in contact before then. I then came home and could focus on the particular mutation Miss F has in my search for information. I found a number of articles about the successful transfer of patients with KCNJ11 mutations (Some with the exact R201H mutation) and also protocols for transitioning patients. When a doctor called they said that transitioning would be discussed at the next appointment (nearly 3 months away). I said that didn’t seem right as I had information on how to transition and knew that patients with the exact mutation had transferred. The next phone call lead to some e-mails back and forth with articles and protocols and selecting a date to transition.

I have had to search for information about Neonatal diabetes myself. The hospital hasn’t given me any information about Neonatal diabetes except to point me to the UK group who discovered the gene mutations. I guess they know that I am an informed adovcate for Miss F but it would have been nice for them to be actively supportive of my search for information.

I have a Bachelors degree in Science and a Graduate Diploma in LIbrary and Inforamtion Studies so my searching for information wasn't just google. I searched medical journals online and anyway I could get access to articles including going to the campus libraries so search myself. The more I found out the more targeted I could be in my search for information.

I contacted the UK group and found out about their Neonatal Diabetes Open day held in August 2009. I have received some information from them. I also asked them for contact details of others with Neonatal Diabetes particularly in Australia. They have been able to give me details of a couple of families in Australia. Privacy rules have been a bit of a pain with this as they had to contact the doctors would had to contact their patients to see if they were happy to to be put into contact with me. I understand privacy and patient confidentitally is important but it sure can slow communication down.
I also contacted the Kovler Diabetes Center in the USA and have joined their study and forum. I have spoken to one of their doctors and he was very helpful explaining things and answering questions. Finally I could ask question directly with someone who had some experience with Neonatal Diabetes.

I have been able to talk to two families here in Australia whose children have Neonatal Diabetes. One of the children has Transient Neonatal Diabetes and doesn't currently require any treatment. The other child is now on oral medication.

Last November Miss F was admitted to hospital to transition to oral medication. We used a CGM to monitor her BGL during the transfer. They gradually decreased her insulin and increased the glibenclamide over a number of days. Her pancreas started making its own insulin. We no longer have to monitor every bite of food Miss F eats but she will require still medication to keep her alive for the rest of her life. We still monitor her BGL 4 times a day.

If she was born and diagnosed even 6 years earlier we would have had to wait for this discovery. The first person to transition from insulin to an oral sulphonylurea only did so in 2004. Miss F’s BGL control has been a lot better since changing over to oral medication. Her HbA1C (measure of glucose on Haemaglobin- which indicates control of past 3 months) has gone from 16% at diagnosis, 7.8% (after 7months on insulin therapy) to 5.3% (after 9 months on glibenclamide). Her BGL is more stable and doesn’t fluctuate so high or low.

Playing with diabetes

Today was full. Today was great. Today my big girls, DD#1, 2 & 3 went to Kids Club in the morning and we brought 2 extra girls home for lunch.
When the other girls had gone home I made a quick decision to join the Diabeanies play date that I had hoped we could go to but hadn't counted on. I had to wake Miss F from her nap. Pile the girls into the car and drive to an unkown part of the city. I did have to stop a number of times to check the street directory. Miss C even commented on the number of times I pulled over to check.  "Are you stopping again mum?" "Yes, I am.". Anyway we got there and I had a great time. Meeting up with other D parents is great. They get it about BGL checks, and Doctors and just "get it". The know where you can get skins for your meter in Australia. Level Living, by the way.
I think the children had a good time too.
A lovely Diabetes Educator that I met on a Camp was there too, it was good to catch up with her and tell her about Miss F and how she is going on glibenclamide (glyburide).
I also had a chance to tell a few others about Felicity's type of diabetes and her treatment. I like to tell as many people as possible hoping that it will make to the right ears eventually and help change another life.

Lows and sickness.

We have various sicknesses in the family over the past couple of weeks. Ranging from the sniffles through to vomiting and diarrhoea but nothing too serious or lasting long enought o warrant a doctor visit.

But the most surprising and worrying thing has been the lows DD#4 Miss F has had. In the last 7 months since transferring to glibenclamide (glyburide) from insulin I have become used to F's BGLs being pretty even. I am still testing at least 4 times a day but the numbers don't move too much. If she is sick they usually go up slightly.

This time is has been different. She has gone low. Not really low but 2.1, 2.6 and 2.4 have been seen over the weekend. So Saturday around midnight found me spooning apple puree into Miss F. She was 3.5 at breakfast which was reasonable I thought. I then halved her dose and got some better numbers for the day.

I have also only given her her suspension after I have seen how much she has eaten as she has been only eating smaller amounts. Yesterday one BGL reading was 10.1, so I have since increased the dosage to 2 thirds her normal dose as long as she has eaten.

In amongst this all I was trying to extend the time we use her bottle of medication last Thrusday and Friday. The pharmacy recommends using each bottle for only a week. I would dearly love not to have to trot off to the hospital each week. So I will have to experiment a lttle bit again when she is well. Now I don't know if the lower numbers I was getting mean that the suspension is fine to use for up to 2 weeks or more or if F's BGLs were lower because she was getting sick.  Back to the drawing board.

The Initial Diagnosis

The start of F's D diagnosis story is here. Failure to Thrive is not what you want to hear about your new baby. As a mum you want your baby to grow and thrive, so to hear that that just isn't happening is a bit crushing. From the 12th October I weighed Felicity each week at the Child Health Clinic. She was so small and her tummy was so big. She seemed to be drinking ‘enough’ but not gaining weight.


Throughout this journey I knew I was right there was something wrong. God gave me confidence to keep pushing the doctors for answers. I now wish I had pushed harder and got answers for my DD sooner but I did what I could.

In November we went to Paed 1 and although she seemed reasonably healthly he agreed she wasn't "thriving". He sent us for a test of her stool. He thought is was most probably a cows’ milk protein allergy as she was put on formula while I was in ICU. The test came back positive for alpha 1 antitrypsin for he said that something was irritating her digestive system. I started her on Neocate LCP formula on 7th November 2009 and excluded dairy and dairy containing products from my diet so I could continue to breast feed as well. She did gain weight a little bit more on this formula but not much. I tried to get to see Paed 1 again before Christmas as I didn’t think she was really responding to it but he didn’t want me to come in again. I decided that we would try annother Paed after Christmas.
In January – I went to Paed 2 as I was still very concerned about her not again weight and having very bloated looking tummy. He referred us to Paedatric Gastroentrologist.

In February - Paed Gastro did Gastroscopy at just over 7 months old. She was so small they couldn’t get the camera through the duodenum so they took pictures and a few samples. Tests came back clear. A friend with diabetes came with me to the hospital that day and actually asked the Paed Gastro if it could be diabetes but he said no. The tests ruled out most digestive problems so we were sent back to the Paed 2 to see what he said.

22nd  February I did a test weigh before and after a feed at the child health clinic just to check she really was getting enough milk. 330g after a 15 minute feed She is definately getting plenty of milk.

By March Felicity was having 5 breastfeeds and 3 formula feeds per day and not really growing consistently. One of the GPs suggested a urine test for diabetes insipida but I was unable to ever get a sample. Nobody actually suggested testing for Diabetes Mellitus.

In March - Went back to Paed 2 - He said she is most probably just a small baby. I insisted on more tests I knew things just weren't right. He gave me a referral for blood tests, and possibly urine and stool samples. He said to introduce gluten containing foods (to check for coeliac disease) and then do the blood test after about 4 weeks. I introduced gluten to her diet and wait about 4 weeks. Then I had cracked nipples and I didn’t want my blood to mess with results.

In the month of waiting I also followed up on Felicity’s urine output which seemed a bit high. I got an email from the child health nurse with details on 19/4/10 I had weighed nappies for a few days prior. Felicity output of 7-10 ml/kg/hr was a bit high. Normal is 2-3ml/kg/hr The Child health nurse said it might be nothing but to mention it at the next doctors appointment. She was very helpful but I don't think she wanted to worry me too much.

I made an appointment with our GP to ask if they thought any other tests were necessary. I just wasn’t confident that Paed 2 would include enough stuff as he didn’t really think tests were necessary.

On 28th April 2010 I finally got to the GP and they rang Paed 2 and asked if separating testing and adding a couple was OK. We got the blood tests done before going home. Blood tests on an alomost 9 month old baby are not easy. F was particularly small for her age as well. I found it pretty distressing. I went home thinking that it would be good to get some answers soon. I was not expecting to hear back too soon though, tests take a couple of days usually.

BUT I got a call that night about 8:30pm from our GP to take Felicity to hospital her BGL was 29. EEK!! I was home alone with 4 sleeping children so I called my DH at work to come home ASAP.
I was surprised it was Diabetes but not that there was something major wrong.

I somehow had the presence of mind to pack a bag for hospital and have a shower before DH got home. I made a couple of calls to our parents. Both sets insisted that they would come and look after they other girls. I thankfully said yes to my mum and DH and I were both able to go the hospital.

F put on more than 1000g in less than 3 weeks after being diagnosed with diabetes. She was no longer starved for food from the inside. Even though it was a huge thing to deal with and lots to learn I was thankful for an answer to our search.

A letter of Thanks - Diabetes Blog Week

This is a much more positive post than the last one. But it is another letter I have been meaning to write for a while. I might even send this one. :)

Dear Professors Ashcroft and Hattersley,

Thank you so much for your work and how it has impacted our lives.
Just over 12 months ago my nine month old daughter was diagnosed with diabetes. Without your research she would still be requiring insulin to keep her alive. Six months ago she transferred to oral treatment with a sulonylurea (glibenclamide or glyburide). Our lives, her life is better because of your individual work and your collaboration.

Professor Frances Ashcroft thank you for your work focusing on ATP-sensitive potassium (K-ATP)channels and how they work in insulin secretion. My daughter DNA mutation means hers don't work as they should.

Professor Andrew Hattersley thank you for leading the genetic team in Exter to identify activating mutations in the Kir6.2 gene causing a form of diabetes.

Even though she was older than the 6 months old usual cut off for Neonatal diabetes diagnosis she had been sick for at least six months. She had no beta-cell autoantibodies detected and had been a low birth weight baby (2.6kg). So she fit a few of the criteria for genetic testing. I am so thankful that we did the DNA test even though getting a blood sample drawn from a small baby is traumatic. The outcome for our family has been great.
I don't think it is very often that parents would be praying for a positive result for a DNA mutation but we are thankful.

She has a R201H mutation of the Kir6.2 or KCNJ11 gene. Her blood glucose levels on the oral treatment are good. And her HbA1C after 3 months on her new treatment was 5.5 down from 7.8 in September.

So, thank you, thank you, thank you.
Basically I can't thank you both and your teams enough.

Best wishes for your future research,
Melissa (a grateful mum)

Letter writing day - Diabetes Blog Week

Dear Doctors/Paediatricians,
I am angry. I am mad. I want to scream at you for not seeing that my daughter was sick. But as today’s topic for Diabetes blog week is to write a letter I will do that instead. The rage I feel thinking about what could have happened to my little girl if blood tests hadn’t finally been done can consume me sometimes. But God is gracious and He kept her in His hand. He protected her when even I couldn’t.
I have wanted to write to you for a while now to tell you of my disappointment with the quality of care my daughter received while your patient (understatement). She was a sick little girl when we came to you but you were dismissive of my concerns. She is my fourth daughter and I knew something wasn’t right. I knew it in my heart. But it to convince doctors like you with a feeling. She was so much smaller than my other girls. It just wasn’t right.
Yes she did start to put on a little bit of weight after she started on the Neocate formula as well as breast feeding. But the gains were smalls and each week as I checked her weight at the health clinic it went up a bit, down a bit and back up a little. Each kg took months and months. She would sweat when she fed like she had run a marathon. Her heart would races. I wondered if there was something wrong with her heart. No.
I told you her number of feeds and that she was weeing a lot. No red flags for diabetes there!! No, she looked to happy to be really ill. I would just have to accept she was going to be much smaller than my other children. You treated me like I was paranoid and only referred me when I insisted on some action.
She had to go through a gastroscopy because maybe she wasn’t digesting her food properly. When I think of putting my 7 months old daughter through that I weep. But I had to try and get some answers. Dr Gastro who said it wasn't diabetes, since when did you specialise in endocrinology? Argh.
I know that some of you wanted to help, you had concerns but you didn't know what to look for. I know you cared.
It makes me so angry to think of my little girl suffering for months and months as we waited for appointments, waited to see if the formula would make a difference, waited for tests. How much longer would she have survived without DKA and worse? When my GP finally rang with the test results and said go to the hospital right now I wasn’t shocked I was relieved we had an answer. One I had searched and fought for 6 long months. I am angry but mostly disappointed that a simple finger prick could have saved so much time and given her health sooner.