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.

A bit behind

I haven't posted for a while. Sorry for the silence. Any opportunities I have had I haven't been able to get my thoughts together.

I'll go back to where I left off. Jelly Beans - Diabetes Camp. It was great. All the girls had a great time. They made friends and hung out. Miss C even started swapping clothes with her new friends! She is not even 8yo yet. I am glad that they had a such good time. They spent a bit of time fascinated by who had diabetes and who didn't and then it wasn't even an issue. Miss E who turned 4 yo last week has said to me a few times since camp "Some of the kids had pumps."  I was worried that DH wouldn't enjoy camp but he met lots of other parents and learned a few things too. I met some lovely people and got to touch base with other I had met before, including a mum I "met" on the Munted Pancreas forum. It is great to talk to people who "get" diabetes.

For being surrounded by children with Diabetes (CWD) I saw very little testing and no injections. I know that some were using Multiple Injections a Day (MID) but I didn't see any sign of it. I saw a few pump controllers out for boluses, particularly when the Freddo frogs were handed out during Diabetes bingo. The girls loved all their prizes.

The sessions for parents were good. It wasn't all so new like last year but I felt guilty that we don't have to struggle daily to keep Miss F's BGL in range. As long as we test and dose with her glibenclamide her BGL should be good. I want everyone to have our miracle.

During one of the session I did have an opportunity to present information about Neonatal Diabetes and other forms of Monogenic diabetes. I really liked to be able to talk to a group of interested individuals about this new diagnosis of KNCJ11 - R201H. Most of these families know other CWD and other PWD so getting the word out may lead to some others having their T1 diagosis changed or at least investigated further. Getting to do this session reinforced my decision to try and become a Diabetes educator. I sent e-mail out today to the UK Diabetes Genes group looking for some advice on the process.

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.

Meeting Awesome people - Diabetes Blog Week

Today topic is to focus on the good things diabetes has brought us.  What awesome thing have you (or your child) done BECAUSE of diabetes? 

An awesome thing I have done because my child has diabetes is meet some great people (both in real life and online) whose lives have been touched by diabetes. People with diabetes, parents of children with diabetes, spouses of people with diabetes, doctors (yeah, I’m glad I have met a couple of them). I have met a whole bunch of great people that I would not have met otherwise.

My DD and I went to Camp Diabetes with some great educators, nurses, parents and children with diabetes 3 months after diagnosis. I learnt a lot and for the first time met others dealing with this thing- diabetes. I found it amazing how there is a bond with people you have just met because of the shared experience. We may not have had exactly the same things happen but we all know about the shock of diagnosis, the ups and downs of BGLs & the ups and downs of diabetes. We know the fear of hospitalisations, the fear of bad lows (is there a good kind?) and the dread of diabetes complications long term. Through our hospital I met Julie (her son is one month younger than my DD) check her blog over at Bittersweet - Our baby & Type 1 diabetes is has been great to chat to someone with a child of similar age. Not many children are still being breast feed when they are diagnosed. :)

Reading others blogs and participating on boards helps with tips, ideas and generally knowing you aren’t alone. I sit nodding in agreement, crying in the pain shared and strangely comforted by others need to vent.

I am usually shy about meeting new people but the desire to better help my daughter has meant that I have made contact with people on the other side of the world to help my daughter. Thanks to the Kovler Diabetes Center in Chicago, US and the Diabetesgenes.org in Exeter UK for their information and the support to make contact with other patients. I have called strangers whose children have the same rare Neonatal Diabetes, just to hear that they understand and have been there. I have met awesome people (Hey, Christy) who have inspired me to educate others about Neonatal Diabetes.

If I can get the word out that not everyone diagnosed as an infant has type 1 diabetes but they may have Neonatal diabetes and be able transfer off insulin and get better BGL control and long term health because of us. That would be awesome too.

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)

First diaversary - One year on from diagnosis

It is one year today since our family changed in an unexpected way. Last year DD#4 F was diagnosed with diabetes. After months of worrying, wondering and wandering (between doctors) we were given an answer to why our little one had "failed to thrive" as the doctors put it.

It turned out to not be a straight forward diagnosis of Type 1 but a very rare form of Monogenic diabetes. Neonatal Diabetes was her new diagnosis after genetic testing. Particularly as mutation of the Kir6.2 or KCNJ11 gene - R201H. We found out in September and I promptly started blogging away. Partly because I couldn't find much online about babies with diabetes when Miss F was initially diagnosed.

It's not a club I would haven't picked for Miss F (& our family) to join but I have met some some great people through this journey. I'm sure we will meet many more. The DOC (Diabetes Online Community) has been great ask questions and find out how others cope with different things. Those in real life have been equally important to us getting through this first year.

Thanks for you encouragement, support and prayers as we have made our way. I am thankful that God lightens the load as we share with others.

First Words

This makes me sad. DD#4 F has diabetes and that means testing her BGL at least 4 times every day. That makes me sad enough.
She is 20 months old and not really talking. She has a few words that she says sometimes. Mama, Dada, Nana (Banana, not her Nana) and Ella (a family friend). Last night she said "inger". Now the only reason I know it was susposed to mean something is that she had just crawled up into her highchair, put on the table and then stuck out her pointer finger and said "inger" because she knows she has to get tested before she gets her dinner.
Now I am making myself cry. I know we have it a lot better than others with diabetes because it is Neonatal diabetes rather than Type 1 and she has responded to oral medication and some mutations don't but I really didn't want one of my little girls first words to be about testing her BGL.
Another friend whose little boy has diabetes too posted about him being able to say "test" and now DD#4 is nearly able to do the same.

Hitting new lows??

DD#3 F, otherwise know as our little miss with diabetes, likes to keep things interesting.
We have been cruising along since changing to oral medication as far as her BGLs go and her last HbA1C was great.

Today I got her up from her nap at 2pm for a late lunch. I wiped and dried her hands as I usually do. The the reading was 2.8 (50), I checked again 16.6 (299). They couldn't both be right. Yikes. So I tested again and again 3.7 & 3.5 (67 & 63).
So she was low. Not too low. But the difference between the first 2 readings threw me.
I don't know if she put her finger on or in something when my back was turned between tests but it was weird the other 2 tests were on her other hands.

F hasn't had heaps of lows, which I am very thankful. Even when on multiple injection of insulin every day we only had a few real hypo incidents. If it wasn't under 3 (54) I just gave her extra food and/or reduced her dose of insulin.

Now I am wondering about what causes the slight lows she has had while on sulphonylureas. Does the specific mutation make a difference in how likely lows or highs are? F has the KCNJ11 - R201H mutation one of the most common to cause Neonatal diabetes.

The lowest BGL reading F has had have been after high carb meals. Today 2 small bananas at morning tea. I have been wondering if it is her body overshooting with insulin to conteract the sugar in her system. End result a bit low with the BGLs. Any ideas? Fellow science brains?

Finding out more.

Over the last couple of days I have been trying to find out more about Transient Neonatal diabetes. As F as Permanent Neonatal diabetes most of my investigations so far have been about this type. I have lots of journal articles and some websites.

We have increased her dosage slightly since her endo visit two weeks ago and her BGLs have been more even. As things have started to settle down slightly with F I am keen to find out about the other types of monogentic diabetes.

I have also tried to contact another Australian family whose daughter has the same mutation KCNJ11 - R201H. I hope to hear back soon. I have really appreciated the contact I have with families in the USA. It would be good to make contact with more of the families here and have a small network in Australia.

Diabetes clinic

As I said in my last post F had a Diabetes clinic appointment on Friday. I had downloaded her BGLs from the Xceed monitor to the CoPilot software to be able to show the doctor just how her levels were going. I went armed with print outs But I was most looking for to finding out her HbA1C.
This is the value which tells the doctors what the blood sugar control has been like over the past 3 months. It tests how much sugar has stuck to the haemaglobin cells. These cells live for about 3 months.
Three months is also how long since F transferred over to the sulfonylurea (Glybenclamide or Glyburide in the US).
All the articles I have read have about KCNJ11 mutations said that patients can get HbA1C levels of about 6 or lower on the oral medication. So going on F's averages I was hoping for 6.2.
It was over 16 at diagnosis, 9.8 after 2 months on insulin, 7.8 in September 2010 and 8.3 when admitted for the transition in November.
It was 5.5 on Friday. I was so excited. It's almost "normal". It may go up and down a bit as she grows and we change doses but it means that the drug is working. Her blood test the previous week was to check her C-peptide levels. C-peptide is what is left over after the body makes insulin from proinsulin. We also got the results for that it was 0.7. I'm not sure of the units but the doctor said it was normal levels.
The glybenclamide is helping her body to produce insulin.


I am so thankful that God has provided us with our own little miracle. I am thankful for the endo team at the Mater. I am thankful for Professors Frances Ashcroft and Andrew Hattersley for working it out.

Welcome to Holland

Late last year I took DD#3 to a birthday party at a play centre. While I was there I got chatting to a father of a boy with Down Syndrome. I asked him how they were dealing with things and one of the things he said was this little story "Welcome to Holland".
I was struck by how much it reflected my feelings about F being diagnosed with diabetes. It just wasn't what I thought signed up for. Once difference is I have never been asked what it is like to parent I child with a disability. Diabetes isn't a disability but it can be all consuming on the same way.

Celebrating Holland - I'm Home This decribes a bit of how it feels as you get used to the diagnosis and meet others who have had to take the same detour.

Since F has started on the new treatment of Sulfonylureas it kind of feels like we have been allowed to leave Holland to visit Italy as planned.  But for these outings are for really short periods of time and Holland is still the place we keep going back to.

Recording medical history

As with any type of history it is most probably better to record it as you go. But I am currently trying to reconstruct the path to F being diagnosed with diabetes. And then finding out about her rare type of diabetes.

I had certainly never heard of Neonatal Diabetes but I remember asking one of the diabetes educators 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. If she was born and diagnosed 6 years earlier we would have never known. The discovery was only made in 2004/2005.
I so glad we sought answers and that the answer was KCNJ11 - R201H. And being treated with sulfonylureas instead of insulin.

More than half her life.

F has now had 9 months and 3 days since diagnosis and just under nine months before diagnosis. Each day is another of diabetes but also another day to thank God she is still with us.

Since she actually has neonatal diabetes she has had it since she was conceived. Insulin in a growth hormaone in the womb, which explain why she was only 2.6kg at birth. DDs 1, 2 and 3 ranged between 3.3 & 3.65kg.

I look forward to the day when she has been on oral medication longer than she was on insulin.

Hello again.

Well don't really know where to begin. So much has happened. We have had a lovely holiday at Caloundra (Sunshine Coast).
We came back to a very wet Brisbane, that only got wetter. There has been major flooding to our suburb and allow we weren't directly affected it has been a stressful time watching and waiting to see where the water would stop.
As we were away for more than I week we need to use tablets for F. These were crushed and added to food, usually apple puree which she loves. Thankfully we were given more tablets than we actually needed. This meant we actually had enough medication to cover the time we couldn't get to the hospital because of flooding. Even if we could have got there the fact her medication needs to kept cold would have been had with no electricity for 4 days.
F was also sick in the last week, just a cold, but her BGLs were only slightly higher. Yay.

Things going well

It is now 3 weeks since I went into hospital with DD#4. F's treatment is continuing to go well. Her blood glucose levels have been great. I no longer have to starve her to keep her levels in check. It been great to not have to worry if she grabs a piece of fruit herself.
I'm having to get used to not needing to have her BGL at 7 or more at bed time. It is not going to go down during the night like when she was treated with insulin.

When F was diagnosed I couldn't work out what good God could have in His plan for us with years of diabetes ahead. But we have had our own miracle in this new treatment and I am so thankful. I just want everyone who could benefit from this treatment to find out about it.
Even the support we have received from our church has really shown God's love for our family.

Out of Hospital

F has successfully made the transition to oral medication. Glibenclamide is a drug usually used in treatment of Type 2 diabetes. But for the past 6 years they have been using it for patients with some forms of Neonatal Diabetes.
F hasn't had a needle since Thursday evening and I'm so excited. It really wasn't nice to have to give her needles even though it was keeping her alive.
I am so thankful that our prayers for a smooth transition were answered. I was quite anxious for a while in the lead up.

Off to Hospital

Monday is admission for F.
It is the day for assessments by doctors and OT. The actaul transition of medication starts first thing on Tuesday. We are hoping and praying it works and all goes smoothly.
I asked that she have a continous glucose monitor because I have no idea when she is low or high by behaviour or signals from F. I hope that it will make things safer.
All prayer for a successful transition are appreciated.
Hopefully no more insulin soon.

Making contact

I have been finally able to make contact with some other families with children with the exact same mutation. One of them has already replied answering lots of my questions about them starting oral drugs. Such a blessing to have someone who has actually gone through it with their child to ask questions. Not just doctors who don't have a personal stake in things.