For parents with children who have congenital or acquired medical conditions.

Examples could be Heart Children (CHD's and also those acquired such as those from Rhemeutic fever), Chronic Lung Disease, Cleft issues, Cerebal Palsy etc.

For parents of children with diagnosed medical conditions not under the umbrella of other sections .. which may result in development/sensory issues .. such as feeding, physical issues that delay development etc.

Hi, Thanks for starting this up for us 205

My DS1 was born with a cleft lip and a more recently discovered soft palate cleft. He also has mild/moderate hearing loss and has hearing aids. He is also a kidney kid and has an enlarged left kidney/and urinary reflux and a narrowing of the uretha in his right kidney. He has speech difficultys and we are currently getting help from a SLT. He hasnt come as far as they wouldve expected so his treatment is getting abit more intesive now with us having to make noises when we see/play with things - e.g. Look DS theres a cow MooMoo says the cow, Wow and looks at that sheep BaBa says the sheep..... Its gets quite draining and you feel very exausted by the end of the day.

We are waiting on an appt with Genetics cause i think theres just to much going on for one kid, and i know it could just be bad luck but I seem to think (and kinda hope so we have an answer) that he has something going on and once we know we can move on and hopefully theres nothing else major thats going to crop up.

Will be nice to get to know some of you more so we can have some sort of support going on.

Thanks 205

DD2 Has Neurofrbromastosis type 1
Symptoms
Neurofibromatosis causes unchecked growth of tissue along the nerves. This can put pressure on affected nerves and cause pain, severe nerve damage, and loss of function in the area served by the nerve. Problems with sensation or movement can occur, depending on the nerves affected.

The condition can be very different from person to person, even among people in the same family who have the NF1 gene.

The "coffee-with-milk" (café-au-lait) spots are the hallmark symptom of neurofibromatosis. Although many healthy people have 1 or 2 small café-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis. In most people with the condition, these spots may be the only symptom.

Other symptoms may include:

Blindness
Convulsions
Freckles in the underarm or groin
Large, soft tumors called plexiform neurofibromas, which may have a dark color and may spread under the surface of the skin
Pain (from affected peripheral nerves)
Small, rubbery tumors of the skin called nodular neurofibromas

Outlook (Prognosis)
If there are no complications, the life expectancy of people with neurofibromatosis is almost normal. With the right education and job expectations, people with neurofibromatosis can live a normal life.

Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder in a small number of patients. Learning disabilities are a common problem.

Some people are treated differently because they have hundreds of tumors on their skin.

Patients with neurofibromatosis have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.

Possible Complications
Attention deficit hyperactivity disorder (ADHD)
Blindness caused by a tumor in an optic nerve (optic glioma)
Break in the leg bones that does not heal well
Cancerous tumors
Loss of function in nerves that a neurofibroma has put pressure on over the long term
Pheochromocytoma, which causes very high blood pressure
Regrowth of NF tumors
Scoliosis, or curvature of the spine
Tumors of the face, skin, and other exposed areas

just some info and what its about

Welcome Palm and 2littlemonkeys!

We had a full genetic workup for DD a couple of weeks after she was born. She had many "markers" including a hole in her heart, small eyes, high palate, ears still attached to her head at the tops, her pinky fingers are turned in and she has very low tone. Turns out she has a very rare long arm deletion on her 15th chromosome.

We're currently waiting for information (and hopefully a support family) from parent2parent.org.nz

Hi everyone, nice to have this up and running, thanks for all the hard work 205!

Starry - Parent to Parent are awesome, they sent a massive pack of information for my boys, they also matched us with another family with a child who had similar problems, it was great.

2LM - your daughter's condition sounds very scary and painful for her, is this a common condition?

Palm, your wee boy is gorgeous with his hair cut! Good luck with the geneticist, I found they were great at unlocking the puzzle.

I have twin boys, one has mild-moderate cerebral palsy due to being born prematurely, surprisingly he was our big, healthy twin and it came as a huge shock that something was wrong with him. He also has a very rare muscle condition - congenital muscle fibre type disproportion... a real mouthful! It causes his muscles to be weak, he may deteriorate over time, the Drs don't know as it is so rare. We were told there was a 25% chance of another sibling being affected, thankfully Eva is showing no signs of muscle weakness.

The other twin was severely growth retarded and had numerous medical problems, he is also described as having dysmorphic facial features. Geneticists have been unable to make a diagnosis on him, they think there might have been a blip in his DNA due to IVF. He is hyperactive and has challenging behaviour, we are awaiting ADHD assessment, I am 95% sure he has it. We were told he was high risk for learning and behavioural problems due to IUGR and how sick he was after he was born - they were right!

So that's my kids in a nutshell, love them to death but they sure can be hard work with their extra challenges.

hi everyone

Callog 1 in 3000 people have it but alot don't know they have it. I know of 3 people who did not know they had it still they hurt themselves and had an x-ray to find that they had a tumor then with a full check up got told they had it.

We are lucky so far she has the birthmarks (cals) she has heaps 30+ and she has ADHD we will have her go for a MRI to make sure that her brain is tumor free keeping an eye on her legs and spine to make sure they are staying how they should be ,and watching her eye as it looks like it sits out more than the other IYKWIM. My brother found out at 25 that he has a brain tumor that cant be removed I know It gets worse as you get older (puberty age) and when preg something to do with hormones.
DD does say alot that her knee and tummy hurt but the doctors will do nothing about it guess i will just keep on their backs about it I'm sure after a while of me saying they will do something but because she has it it's had to get health cover for her so it's the normal waiting lists etc.

Hi all,

I'm so glad there's a small community of you going here. I hope your shared experiences give you some support through your different journeys.

I have to say I'm amazed by the range and depth of knowledge you have. I imagine it was a really steep learning curve you had to begin with, but you all seem so informed and on to it. Honestly, some of this stuff is like a new language for me, but really inspiring how you've all educated yourselves about it.

Let me know if you ever need anything from me re this forum. Cheers.

Awwww thanks Callog, we think hes looking pretty spunky to I know what you mean about loving the kids to death but them being hard work. Ive got a girls night out planned for the start of December, my first night away solo so will very much enjoy the break. Poor DH though i dont think knows whats coming

2LM, Your DDs condition sounds like alot of hard work. Always checking for changes etc. Is she in pain alot of the time? Is there something wrong with her legs/tummy? Do they ache? Wonder if something like a heat rub would work, Antiflame or something?

Got a phone call from Genetics and the Cleft team today, we are seeing them both next month so im going to start getting some questions together. Any ideas on what I should ask?

We will also find out if and when they are likely to do more surgery on Josh's cleft, i know i want more done to tidy things up abit and also to help his speech with them fixing his palate. But at the same time I dont, i felt so anxious last time he had operation, i couldnt even sign the consent - made DH do it. Anyway I know im just feeling like this because who does want their child to have an operation, even if they know its going to help them.

Palm, are they doing a full genetic sweep? The one we had done is a relatively new test in Wellington called Comparative Genomic Hybridisation which brings a 100-fold increase in resolution to karyotyping by microscopy. (Ok, you got me, I copied that last bit off DD's notes )

They took 15ml of blood each off me and DH and 7ml from DD (and she was only three weeks old at the time) That's a lot of blood! DH nearly fainted lol

The results took a couple of weeks (they run them in batches)

Good luck.

Hi there

Just wanting to introduce myself

.. I have twin boys who were only a little prem born at 34 weeks .. one of whom has Hypoplastic Left Heart Syndrome (essentially only half his heart), along with a few extra bits and pieces with his heart that make his life a bit tougher .. he is on Warfarin currently and had his last major Open Heart Surgery when he was 3 years old .. but has the odd procedure on and off .. A lot of EBB'ers have heard his story .. but he has a blog that I created as a form of therapy for me: Cameron's Journey

.. he is still definitely not out of the woods and while the "heart' stuff is currently semi-under control .. we are now entering a whole new realm of issues with dealing with him being at school (and the school reactions - both over -reactions and ambilavence to his condition) and all that entails largely due to him being unable to keep up physically with others .. luckily he seems to be currently doing well with intellectual things at school ..

We are now also dealing with the psychological effects with him having heightened sensitivities/reactions to "normal" things .. but when a major thing happens (like surgery or a major accident) he is quite calm .. it is sort of like his brain has re-wired and his reactions to things has switched .. not sure if that is written right .. his reaction is to scream like blue murder .. which when the nerves are a bit frayed certainly is very trying ...

He was ng tube fed until he was 10 months old due to having an oral aversion as a result of his tough first few months .. (now I wonder if he knows where his mouth is as he is worse than a 2 year old with food all over his face and doesn't care) .. so never had a bottle and during the ng feeding had severe reflux and with his failing to thrive in the first few years was also on a number of calorised drinks.

His brother has heighten anxiety .. and has been "checked" by the child and adolescent system and has been noted as having heightened sensitivity and anxiety issues. At the moment they do not want to work through with him until later on as feel that with his "brothers" situation and all that his brother went through in his first few years (and him being with us and him during it when he was younger most of the time) they feel the reactions are not out of the ordinary for him having to "cope" with his brothers stuff .. He had Pulmonary Stenosis until he turned 2 when luckily his valve corrected it's flow/pressures on it's own so no surgery was required ..He is also is quite a fair way behind at school and we wonder if he may have a learning disability and are having him re-tested when he is 7 either through SPELD or some other facility.

My little Miss also has a CHD called Aortic Stenosis (which her brother has also) .. they both have bi-cuspid valves and at the moment she is not symptomatic .. which is great .. we were hoping she would be discharged this year from the service .. but unfortunately her valve stenosis has worsened so she is now under more monitoring and will have another echo when she is 4 to see what the plan will be for her heart ..

So that's the kids ... their conditions are only a part of them and they are funny, quirky, empathetic to others, polite and pretty balanced really .. and I try to make their lives as "normal" as I can and not make their conditions them .. because although they have them I feel they are so much more than their heart conditions .. that's not to say I don't promote the cause of Heart Children as much as I can ..

They are unique, whom I love very much .. can be super hard work sometimes .. especially with their anxieties and sensitivities (let alone my own ) .. but wouldn't be without especially after all the time it took for them to come along

They havent said, its our first appt with them so im guessing they will just go through all his conditions etc? What happened at your first appt? When I was talking to the lady on the phone she said that the team we are going to see do the whole of the north island/nz so they are very good.

Hi Twinzplusone. Sounds like you have been through alot with your 3. Must say thats one thing im so grateful for, that DS2 seems so far in good health. Was looking at my calender and have one day each week until xmas that isnt booked with an appt or something, cant imagine what it would be like with 3

Everyone has so many different things to deal with huh? Also such a different range of conditions ..

At the moment we've noticed DS-C has a few issues with his fine motor skills - his pencil grip is really unusual - not just because he is left handed .. and no matter how hard we and the school work with him - he goes back to the same way -- so it must be comfortable for him .. but it sure looks painful .. he is on the waiting list to work with an OT .. but is listed as routine ..

He has quite bad clubbing on his fingers (from having low oxygen sats most of his life) and I wonder if they are also quite sensitive ...

He has major problems with doing up buttons, putting on socks and other little "small" actions .. but is great with gross motor skills esp. ball handling

.. ahhh it's certainly a see-saw situation

Hi twinzplusone

Palm, at our first appointment we went through all of DD's markers - her ears, fingers etc, he did a full body check and had read some of her notes. He also asked about exposure to chemicals during pregnancy, any diseases etc that ran in both sides of the family. He asked how the actual pregnancy had gone - stress, appointments, anything out of the ordinary etc

We talked about what it MIGHT be, but he said he had a few things in mind, but wasn't sure enough to say anything.

hope that helps

Thanks starry.

We are seeing DS1's surgeon tomorrow morning to hopefully get some answers on when more surgery is likely to occur. Then on Friday morning we see Genetics and in the afternoon he goes in to get his grommets and CT done. Im kinda nervous about tomorrow, I just want to go in and yell at them for stuffing up but know that I cant. Athough I will tell them im upset with whats happened, will just say it polietly thats all

You'll be a star!

So just saw the Genetic Dr today, and apart from small hands (they are on the 3% conpared to the rest of him which is 50-75%) theres nothing obvious externally that he can find wrong. His main concern though is his lack of speech and hes said that even with his hearing loss he should not be this delayed. They have taken bloods to do a full chromosone check, we might get them back before xmas but its likely to be next year.

Have you heard anything back yet Palm? I find it's horrible having to wait so long, I get very impatient!

Do you want something to show up? I know I did. I wanted an explanation, so I could tell people why she was different. It kind of backfired though - Jaime's is so rare it's not got a name duh!

Not likely to hear back for awhile, im guessing after Xmas/NY.

OMG!! Just saw your ticker. Huge congrats to you for a stress and trouble free pregnancy

Thanks Palm! I'm rather anxious about the 12 week scan. eh

Will keep everything crossed for you Take it easy aye.

Hows everyone else going? Im starting to get really tired and worn down by all the SLT and other appts. Bring on the holidays so I can have a break from it all.