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.

Missing in action.

I have even more busy than usual for the past month or two. We have had two birthday's and have organised a kitchen reno on top of the normal things to keep a family of six running.

We have taken some progress photos of the kitchen, so I will share those soon. I need to get them on the computer first. Actually getting the kitchen put in seems to be easier than picking all the appliances and features. There are endless choices (some are out of the reach of our budget) for cupboards, colours, benchtops, drawers, taps, sinks. You get the idea.

One of the things that has happened in the last month is on the diabetes front. Something that added just a bit extra stress each week was heading to the hospital to get DD#4 F's oral medication. We get a suspension for the ease of given an accurate dose and being able to change the dose easily as she grows. The hospital will only give the suspension a shelf life of 1 week as they don't have test data for for any longer. My local pharmacy starting compounding a month or two ago so I thought I would see if they could make it for us. Long story short. They can and have. We are on to week 4 of our first bottle and all seems to be going fine with her BGLs. They only problem is the cost. I put in claim to our private health insurance this week but I don't know if it will be covered. It costs more than 10 times the hospital phamacy price to get it from the local phamacy BUT it very convenient. The jury is still out if we will be able to continue to get it locally long term.

DH has just gotten back from his bible study and he wants me to tell you all how special he is. DH is special.

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.

Jelly beans - Friday Fun

Well. I do love jelly beans but the best bit about today's jelly beans is that it is Camp Diabetes - Making a difference for kids with diabetes.

I have almost finished packing for our weekend away. I still need to check my list but I think I am almost done. Packing for 6 is quite an exercise. But I am really looking forward to the weekend of meeting other families dealing with diabetes. And sharing our story of Miss F's rare form of diabetes and her new treatment. Our story of Neonatal Diabetes might not make a direct difference to anyone on camp but hopefully it will help spread the word to even more people of this rare form of diabetes.

Everyone is looking forward to the weekend away.  Have a good weekend.

Not quite what I was expecting

After a busy end to last week I thought this week was going to be slower. The school fete went well. To me that means that most of the things I baked sold before lunch time. It makes me happy that the effort I putting into baking was appreciated. I had fun baking, decorating and packaging up, unfortunately I also had a really late night. As a consequence was so tired the next day I thought I might go to sleep standing up at one stage. I didn't manage to get any photos but they did look nice.

On Monday I only spent 1 hour at home from school drop off to school pick up time. I went from school to the hospital (didn't actually get the medicine) to home for 5 minutes (I didn't get the girls out of the car) to get lunch for Miss E for daycare. I then picked up a friends child to take them to daycare as well. I then went straight to a (rescheduled to an earlier time) physio appointment, taking literally a minute to drop Miss F at a friends house first. Back to friends to collect Miss F and a quick game of UNO before heading to the hospital again to actually get the medicine this time. Finding a car park at the hospital is hard if you don't want to pay a large amount of money for the privilege. I found a 2 hour on street meter and was glad.

Parking at the hospital is really that bad. It's just that I have to do it every week for Miss F's medication.

I then came home briefly for Miss to sleep and then it was back to school for pick up.

Then rest of the week has been a bit quieter. Plenty of washing and meals to be made but that's normal.  Today, I took Miss E & F to the library for story time. Miss F only bolted once. Thankfully Miss E noticed and averted any incident.

Tonight I am packing for Jelly Beans Camp. It is the diabetes camp that Miss F and I went to last year. It was great to meet other D parents and learn soem more about D. This year we are all going. Miss E has been telling people about it all week. The older girls are really excited so I had better get back to the packing so we can actually leave on time tomorrow.

Fun Friday - Coco

Disney has announced a new character, Coco the Monkey with Diabetes.

Coco is going to be part of a series of books, starting with "Coco and Goofy's Goofy Day". It a collaboration between Disney and Lilly Diabetes. Coco is newly diagnosed and still learning about BGL checks, insulin and eating well. And her friends are learning she is still one of thema nd can do the things they do.

It sounds like a great move to educate and entertain.

National Diabetes Week 10-16 July

This week is  National Diabetes Week here in Australia.

A quote from the Diabetes Australia web page "Each year Diabetes Australia celebrates National Diabetes Week to raise awareness about diabetes in Australia. The campaign aims to educate Australia of the risk factors for type 2 diabetes and how type 2 can be prevented."

It makes me mad on behalf of people with Type 1 Diabetes that the focus is so fully on Type 2. Prevention is great but Type 1's need a cure and not more people telling them that they should have looked after themselves to avoid the disease and that they can't eat that.
Another focus of National Diabetes Week is Eye health and getting your eyes checked which is important for anyone with Diabetes. I can't argue with that. Diabetic Retinopathy is a real danger when living with D over time.

As a mum of a CWD who isn't Type 1 or 2 I get annoyed with the lack of information about Monogenic forms of Diabetes. I know it is rare but an accurate diagnosis has changed our life.
Most sources of information about Diabetes only include Type 1 & 2 and somtimes Gestational. Some forms of Monogenic Diabetes can be treated with oral drugs - glibenclamide (like our Miss F), some don't really any treatment and some still need insulin but knowing can help get better treatment and outcomes.

Rant over.

Any ideas on how to make a difference?

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.

Insulin for Life and more fridge space

Yesterday I finally posted off our extra insulin. I have kept 4 vials of Novorapid but the rest of the Novorapid, the Levemir and Protophane are now on the way to helping someone else.

As I showed in the photos during Diabetes Blog Week we don't need all the supplies that we used to since DD#4 F transitioned to glibenclamide (glyburide). Sending the supplies to Insulin for Life Australia has been on my to do list since January. I finally get to cross it off the list. And I get some space back in my fridge and pantry (the diabetes supply shelf is less crowded now.) I also sent off some pens, needles, lancets and lancing devices that we don't use.

I posted a while back about the need for insulin and other diabetes supplies both in developing countries and after disasters in first world countries. I'm glad that our surplus can help someone in need.

Endo appointment

I spent a couple of hours last night trying to download the reading from DD#4's Optium Xceed meter. The Copilot works great to give an overall view of what the BGLs are doing. But the meter didn't what to talk to the PC and I had to reinstall thedriver software. I finally got some lovely printouts (graphs, pie charts, etc) to show the doctor.

Well I was expecting good things from today's appointment. I wasn't disappointed, thankfully. Hb A1C 5.3 yay:) I feel like I have passed a test but really all it is is the appropriate treatment for my daughters rare condition is working effectively. We have tweaked the glibenclamide (glyburide) dosages a little since last appointment to 2.75mg breakfast, 3.75mg lunch and 2.75mg dinner. The increased dose at lunch seems to cover lunch and afternoon tea better than the 3 equal doses we had previously being using.

It seems so weird to be thankful that F has a rare genetic disease one little Arginine peptide changed to a Histidine at the 201 codon but it has made the management of her Neonatal diabetes easier.

I also found out that DD#3 thought that her sister didn't have diabetes anymore. The new treatment certainly isn't a cure but is a miracle. Still praying for a cure for Type1 and the monogentic forms of the disease.

Fun Friday

I felt a bit blogged out after Diabetes Blog Week. I have decided to try a few theme days to help me get things going again.

So here we are on "Fun Friday".

I visited a blog recently and saw this great case that their daughter had been given.

http://myabetic.com/lovebug.php

I am seriously tempted to buy one. It is such a cute testing kit.

What I've learned - Diabetes Blog Week

Topic: What have you learned from other blogs - either this week or since finding the D-OC?  What has your experience of blogging the DBlog Week topics with other participants been like?  What has finding the D-OC done for you?  If you'd like, you can even look ahead and tell us what you think the future holds!

This week has has reminded me how many great blogs there are out there. I have visited a few this week I haven't been to for a while and been blown away by how well others express themselves. I have visited many others for the first time and and am happy to have found them.

Finding the DOC has been a mental life saver for me. When I have needed to know others are going through the same things the DOC has been there and I appreciate more than I can express. The same, same feeling that I get as I read is a comfort, as well as wishing that others didn't have to go through it.

I know my DD will grow into a strong confident women because I can see those that have gone before and succeeded. Both because and despite of Diabetes.

Saturday Snapshots - Diabetes Blog week

 

Our supplies while DD was on insulin

Insulin - Levermir, NovoRapid and Protophane

3 Insulin pens

box of Needles

Large sharps bin

Small sharps bin

Glucogon and Syringes

2 Optium Xceed meters

Glucose Strips for meter

Blood Ketone Strips for meter

Multiclix Lancer

Lancer drums

Diabete-Ezy Test-Wipes

Basket and bag to store it all in the pantry

Our supplies on glibenclamide (glyburide)

Glibenclamide drops (shelf life 7 days- stored in fridge)

Oral drops syringes

Optium Xceed Meter

Glucose Strips for meter

Multiclix Lancer

Lancer drums

Spare Glibenclamide tablets

3in1 tablet cutter/grinder/storer

Apple puree to mix in tablets.

The tablets are a back up. We had power blackouts for 4 days when Brisbane flooded January 2011.

We need to be prepared for that type of situation. 

Our back up supplies

Insulin - NovoRapid

1 Insulin pen

10 Needles

Small sharps bin

Glucogon and Syringes

Extra Optium Xceed meter

Blood Ketone Strips for meter

Basket to store it all in the pantry

 
We have these supplies just in case DD's BGL goes so out of range insulin or glucogon is necessary.  As time goes on and we are more confident on how she responds to different sicknesses we might not keep all these things but at the moment I like to be prepared.

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.

Diabetes Bloopers - Diabetes blog week

Today’s topic for Diabetes Blog Week is Diabetes bloopers. Things can and will go wrong and sometimes they are funny.

When packing for our 7 day summer holiday I carefully calculated how many strips we would need and then added a few more for good measure. I added extra cartridges for the Multiclix finger pricker and some blood ketone strips just in case. I packed DD’s medication separately as the solution needs to be kept cold. We packed the car and headed on our way. We stopped for lunch on the other side of town just so we could actually get going and start our holiday. When we stopped for lunch I discovered that I had left the carefully prepared testing supplies at home. I was able to use the spare test kit that I had remembered for lunch but is only had a few strips and I really don’t like using the spare Easy touch pricker.
There was no way DH was going to turn around and go home for the testing kit so it was off to the nearest chemist. I went inside and found that it wasn’t a NDSS (National Diabetes Services Scheme- Australia subsidy scheme for Diabetes) pharmacy which meant I would have to pay full price for the strips and new Multiclix.

That was an expensive oops.

I could also tell you about the time DH and I both thought that the other had given our DD her insulin at breakfast, so by lunch time her BGL was HI but hey things happen to the best of us.

Admiring our differences - Diabetes Blog Week

I am a mum of D child. But I feel different in the PWD blogging world. Yes, I mum of a CWD (child with diabetes) but it is rare form. When my baby was diagnosed I felt very alone.

So I started out by reading blogs of other D-mums (& moms). But I didn't find any one in the same situation. Reading blogs usually leads to reading more blogs so...That led me to blogs of PWD. I have learnt so much. What it feels like to have a hypo or when you are HI. I can’t know that because I’m not one of you in the D world for myself. I found out ideas for hypo treatments, recipe ideas & supplies to make D life easier and brighter. I admire those that are coping with D by themselves, those that are there for their children, those who there for their D spouse or partner. So I have been admiring the differences. Nearly everyone in the DOC is in a different situation to me.

I have since found others who like us are dealing with a rare form of Diabetes. There are only just over a dozen D patients being treated orally for Neonatal Diabetes in Australia. It can make you feel quite on your own when you know there isn’t anybody else in your state (Queensland is pretty big) with the same condition. But it is great knowing that there are others in the DOC which get it because their child has the same rare diabetes and even though they are in the US we are connected. http://www.babieswithdiabetes.com/ We are both passionate about finding others who could benefit from this relatively new discovery. Our children were diagnosed young (very young) usually before 6 months of age, no autoimmune antibodies and low birth weight. They have a single DNA mutation which causes there body to not produce insulin.

I am still learning so much reading blogs and hopefully I can share a bit of our journey as well.

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.