Blog 21 – updates, press and Thankyous

Pipers had lots going on with physio lately. We saw Sarah, her physio, a couple of months ago.

At the time Piper was still just crawling and not doing much in terms of walking, so we discussed getting a proper walker for her, a metal framed one – not the cute little wooden one she’s been reluctantly using)

We also spoke about how hyper-mobile she is and how we can’t get supportive boots on her feet because her ankles don’t have enough strength to push them in, so Sarah referred her to be fitted with some Piedro boots.

She also measured her up for a compression waist band that she will wear as much as possible to hold her hips in tighter, with the hope it’ll help with her walking.

We had a couple of appointments following this with Piper trying out different walkers but it was completely unsuccessful. Pipers sleep at night is non existent at the moment, so every appointment we have lately we’re having to try to wake her up for an hour beforehand, she’s in a foul mood and we don’t get anything done.

It was left there, then a couple of weeks ago she was fitted for her boots.

By chance we saw Sarah at the hospital, so she quickly took us into a room to show us the walker they’d got in for Piper.

A few weeks before, Piper suddenly decided to start walking (holding our hands) and pushing herself up with little support.

Sarah couldn’t believe the progress in such a short time.

Pipers growth hormone was increased in this time so maybe that’s why she’s suddenly got more strength?

Piper point blank refused to even touch the walker (which we kinda knew she would hate anyway!) so as she’s now up on her feet, we’re ditching the idea of a walker and she’s been booked in for rebound classes.

These are classes on a trampoline to try to help with her balance and get her working out her muscles and her names also down for sessions on a mechanical horse.

So that’s where we’re at with physio.

Pipers doing amazingly at walking holding our hands, it’s all she wants to do at the moment and it’s something Stevie has really been longing for. He’s been waiting to be able to walk around the school holding her hand for such a long time. And now he can 💙

Her feet often drag behind, but her boots should be made this week or next, so fingers crossed that solves that problem!

Piper and Sarah

Our latest appointment at Moorfields showed no change in Pipers eyes, her glasses prescription is still the same and she doesn’t mind wearing them anymore which is great!

We still can’t tell if they help at all but they’re worth a shot!

At Moorfields

We had Pipers second appointment with the neurodisability sleep doctor last week.

The last time we saw him, she was prescribed a SAD lamp, and while it’s definitely helped with cutting down her naps, it’s done nothing with helping her sleep at night, So she’s being put back on melatonin (despite it not working previously.)

Last time she started on 3mg, this time she’s starting on 1mg and working her way up to 6mg. It’s the only option we have at the moment to try to help with it. I’m not optimistic but we’re willing to give it another go!

Last week we had Pipers 6 monthly check with the neurodisability team – a child psychologist, a registrar and a consultant paediatrician.

Again, Piper had been up ALL night, finally falling asleep on the way to GOSH at 8:30, only for us to have to wake her up at 10:30 ready for her 11:15 appointment.

She was miserable, I ended up having to hide because all she wanted to do was sit on my lap and sleep. Two hours later and we all decided enough was enough and we went home.

They we’re completely unable to do any of the checks they’re supposed to do, so she couldn’t be scored developmentally wise.

Despite all that, they still offered us some great advice for her sleeping, and with stopping Piper breastfeeding, and they’re going to do all the checks again in 6 months time.

In October we went away with the Guide Dogs to Windermere in the Lake District.

It was the nicest weekend away ever!

We stayed in a lovely hotel which fully caters for people with visual impairments and guide dogs, there was Braille everywhere ☺️ and it was set in the most beautiful location! If you haven’t been to the Lake District yet, go! It’s stunning!

They held workshops throughout the 3 days, not only for Piper, but also support groups for us parents too, activities for all the other children and we left with lots of info for when it comes to the time we think about schools for Piper. (Nope, can’t deal with this thought)

All the children thoroughly enjoyed their time there, the Beatrix potter museum was also down the road so we checked that out on our way home.

(Bit creepy 🤣)

It was really enlightening being around so many children with visual impairments, especially seeing the older ones and how they manage day to day life.

Our friend Kazmin also came with her children and her sister Carly. It was just a lovely experience! None of us wanted to leave.

We can’t wait to go back again!

Also just to add, if anyone is struggling in any way with a visual impairment, whether it’s yourself, or someone you know, mentally or physically, or if you’re struggling coming to terms with a diagnosis call the guide dogs! They offer so much emotional support.

Our children always make us proud but our little Pea outdone herself recently.

Months and months ago Bella started ‘Braille club’ with a few of her friends during lunch time at school, then randomly a few weeks ago, she asked me if I think she would be allowed to teach her whole class Braille.

So that morning I went to her teacher, Miss Lauricourt, and explained what Bella wanted to do and why, and she said absolutely yes!

So that night we made everything ready for her ‘lesson’.

Pipers habilitation teacher, Lisa, gave Bella a few ‘crack the code’ Braille books and embossed loads of sheets of paper in Braille for the class to try to work out.

We found medication boxes with Braille on and stuck them to sheets of paper so her friends could feel them and made a large tactile Braille alphabet.

The next morning I emailed the headteacher to compliment Bellas teacher for allowing her to do this and he emailed back saying he had just taken her out of class, where Bella taught him and 5 more of the senior staff Braille, what a credit she is to us and that she would be teaching her class shortly.

We are so proud we could burst!

We also had an exciting visit from the BBC not long ago. They came over and filmed us for their new online educational videos – ‘BBC’s tiny, happy people’

Pipers videos, focussing on activities for VI/SEN children should be out in the new year.

I’m so excited to see them and will share them as soon as they’re available!

Our little superstar!

In a minute I also want to share this email I received.

I started writing and sharing my blog for three reasons.

1. My doctor advised me to write down everything we’re going through as a type of therapy. So we can always look back and see how far we’ve come – it works btw! I often read back on the first few months to remind myself of this. Especially on bad days!

2. To update everyone all at once on how Piper is doing, because it was too painful in the beginning to keep repeating myself,

And 3. To help anyone who might be going through similar.

My brother in law, Alex, told me after sharing it with the family that I should share this publicly for this reason. Thanks Alex, I’m glad I listened ☺️

We didn’t have anyone to turn to in the early days who completely understood what we was going through, so I shared this in the hopes it would reach someone just beginning their journey, who like us, felt lost.

Receiving it meant so much more than just the lovely words written. 💜

Last week I also had the exciting task of shaving my friend Kazmins hair off to raise money for The Great Ormond Street Charity!

Kazmins daughter, Gracie, also has SOD and is under GOSH.

So brave and she raised so much money for them 💜

She still looks beautiful!!

In the last blog I spoke about the article the GOSH charity have done on Piper, it still isn’t out yet, but I’ve been told it’s because they’re asking for extra funding to put behind it and they’re lining it up with a milestone in the new sight and sound department being built on Great Ormond Street.

I’ve had a read of the article that’s waiting to go to publish and it’s great. Hopefully soon it’ll be out for you all to see!

Little snippet of one of the pics in the article.

Pipers doing really well at the moment (apart from sleep obvs).

She’s copying so many words, a couple she even says with meaning, she’s getting more and more mobile, shes eating almost a good amount and she’s using her vision pretty well.

For the first time ever she actually seemed to be studying my face 😭

I can’t even describe how this felt.

She’s also under another new team – Portage, they will come round once a week to develop Pipers play skills and work on specific things we think Piper needs help with.

But most importantly, she’s happy!

Helen, her visual impairment teacher said she may have spotted something from a metre off recently….How amazing?!

And Lisa, her habilitation teacher managed to get Piper to voluntarily touch a variety of objects she would usually turn her nose up to!

(Piper and Lisa)

She’s still loving her sessions with Laurence, her musical therapist too. We’re due to see him tomorrow again 🙂

I know I usually end it there but I’m ending it with something so special.

We’ve had a few people lately who have wanted to do something to help with Pipers GoFundMe.

Earlier this year my sister Jo’s good friends got married – Lou and Elliot.

Instead of asking for gifts for their wedding they decided to ask for donations towards Pipers GoFundMe.

We would like to say the biggest congratulations and biggest thanks ever for the kindest most selfless act!

They raised over a massive £5,000

We are truly humbled and so emotional at their generosity, their kindness and their big hearts.

Karlee, my surrogate sister, has a little boy – Freddie, who is turning one this month. Instead of making party bags for his birthday party, Karlee, Ben and Freddie have decided to ditch the plastic and they’re donating to Pipers page instead!

And another one of my sisters (Angies) friends messaged me the other day after Kazmins head shave for GOSH, saying she too wants to shave off her hair and raise money for Pipers GoFundMe!!

I just cannot believe the bravery, thought and compassion you have all shown for Piper.

We could never thank you enough!

You’re all such special people!

Wishing you all a Merry Christmas and a healthy and happy new year 💗

Blog 20 – Piper is TWO!

It seems we had no big appointments for ages and then they all came at once so I held off writing this until the bulk of them was done with.

We had her appointment a couple of weeks ago with the endocrinology department at Great Ormond Street, I’m not going to lie, I’ve been having panic attacks every day for about 3 weeks leading up to it. I don’t know why, we actually enjoy this appointment the most out of all of them, I always feel so safe going there! but where it’s been such a long time since the last one, where we discussed a port-a-cath for Piper, I think it’s been playing on my mind again.

But I needn’t of worried, the appointment went really well! Pipers grown 6cm since November, her weight has plateaued again but no ones worrying about it, it’s (ironically) likely to be because she’s started her growth hormone.

They also projected that if she were to grow ‘normally’ she should reach 5ft4. The same as me, so that’s the goal.

She needs to go back in to GOSH soon for a blood test, no Port-a-Cath or 24 hour bloods, just a normal draw at their morning clinic to keep an eye on her cortisol and to check whether she may be a little anaemic. Then depending on the results they will decide the next steps for her.

While we waited for Professor Dattani we had a really nice chat with Sally, one of the endocrine nurses. I spoke about how I really struggled with her diagnosis a lot in the beginning and the effects it had on us all and she said they have a psychiatrist there who we can talk to. We don’t think it’s something we need right now but it’s reassuring to know there’s some more help there if we need it in the future.

They’re also planning another SOD meeting soon, we loved the last one so we’re looking forward to this one too!

We went over Pipers health with Professor Dattani and Sally and right at the end I brought up that I could often smell an ‘ill’ smell on Piper, I almost didn’t mention it as i thought it sounded ridiculous but it turns out it’s a real thing!

Sally straight away asked if it smells like pear drops, which it does, and it transpired that it’s something to do with ketones and low blood sugars!

So we’ve been advised to give her a sugary drink if this happens again and they’re referring Piper to a dietician as we don’t think she’s getting all the right nutrients in her tiny diet.

She definitely enjoyed her birthday cake though, thanks Brett & Gem 💗

Professor Dattani also showed us Pipers brain MRI and Sally told us to video him talking about it, it’s actually crazy the difference between Pipers and a normal babies brain.

In the picture below the MRI on the left is a normal brain and on the right is Pipers.

I think all I’m about to tell you is correct 🙈

The red circle on the left you’ll see a bright white dot. That’s the pituitary gland which makes, stores and controls many different hormones, in Pipers red circle it’s barely visible, if there at all. This is why Piper is growth hormone deficient and is borderline adrenal insufficient and why she will have continuous monitoring as they suspect at some point it will fail completely.

In the yellow circle on the left you’ll see a bright white thick rainbow shape, that’s the corpus collosum. The primary function of the corpus callosum is to “integrate motor, sensory, and cognitive performances between the cerebral cortex on one side of the brain to the same region on the other side.

Pipers is extremely thin meaning she could “exhibit a range of behavioral and cognitive outcomes, from severe cognitive deficits to mild learning delays.

The green circle is the optic chaism, it’s where her optic nerves cross over, hers is also extremely thin meaning her optic nerves are small the whole way through, hence being severely sight impaired.

GOSH now have an amazing new system that we can log into to look at all of Pipers appointments, details and results.

It’s just me all over, the one thing I always do is research her condition and want to know exactly what her results are and what they mean. This allows me to obsess over them without bothering anyone else haha.

Pipers sleep has somewhat improved, she now has one nap in the day, which usually lasts 3-4 hours, then on a good day she will go back to sleep around midnight and if I’m lucky she will stay asleep for 4-5 hours. It’s not often she does that, most nights she’s up the whole night but as she’s getting older she can occupy herself so I’m not up and down every hour feeding her. Yes, she’s STILL breastfed!

It’s at the point now that I don’t know how or when she will ever stop breastfeeding, every day she’s still feeding like a newborn, at least 10 times in 24 hours. I think half the time is for hunger and the rest is just for comfort.

We had Pipers appointment at the developmental vision clinic last month, Pipers visual impairment teacher – Helen came along with us and we was also interviewed for the GOSH charity website while we was there. The article should be out this month 🙂

(One of the pics the GOSH charity took)

The appointment went well, they’ve put Piper slightly behind in most areas (against other children her age with a severe visual impairment). To be honest we don’t pay much attention to her delays anymore, we know she will get there eventually, and they only get to see a snippet into what Piper can/can’t do, sometimes she just doesn’t perform on cue.

Pipers habilitation teachers – Mary and Lisa always tell us she’s right where she should be and they see her far more often so we tend to pay a little more attention to their outcomes.

They are currently working on getting her walking. Mary told us to get her a wooden walker and fill it with cement so she can’t topple it over, then a couple of hours later she turned up at the door with one for us to use 🙂

(Pipers baby walker vs A normal one 😂)

A week into it and she’s getting the hang of it already ☺️

I’m not sure were ready for a walking visually impaired baby, it’ll definitely be interesting.

Maybe I could get her a helmet haha!

(I’m not completely joking 😜)

A few weeks ago Stevie and I attended the first DOVES (Developmental Opportunities, Visual Experiences and Support) meeting with Piper. We met a couple of new families whose children have visual impairments. It was so interesting hearing about their different conditions and how it affects them.

Pipers friend Elsie also came along, it was lovely to see them again and to meet Elsie’s dad too.

(Piper and Elsie at the DOVES meeting)

Piper loved all the singing going on, she doesn’t stop singing at home! Her firm favourite still being ‘Happy Birthday to Piper’ or ‘“appy buffday to puppa” as she says 😂

She’s also picked up that when we do her growth hormone we always sing “1,2,3,4,5 once I caught a fish alive”, and a couple of times she’s joined in with us. Sad but also cute. Then at the end she always repeatedly says “all done, all done”.

Whenever I write a blog I always make little notes when we have appointments or how I’m feeling and a few times I’ve written down things we usually take for granted, but then didn’t bother including them, as everything else was so positive I didn’t want to bring it down, but I thought this time I’d just put it in, negative or not.

So, I’ve noticed how easy it is to take small things for granted when you / your child can’t do them. Little things you’d never even think about usually, like eye contact. I’ve never had eye contact from Piper, I don’t know what her face looks like looking straight into my eyes, because she’s never done it! I’ve never seen a reaction from her when I smile at her, like smiling back at me. Her smiles are always from touching or listening to me but never from looking at me smiling at her. We rarely get a photo of her looking at the camera, and if we do it’s just pure luck that the picture was taken as her nystagmus drifted towards and past the camera, and I’m talking a split second, if that, and it would of been her looking away again.

Those photos of her actually freak me out a little to see, because it’s not normal!

We love your little crossed eyes Piper 💗

But to add a positive spin on it, sighted babies now amaze me how far they can see, especially the tiny ones being burped over their parents shoulders, seeing you smile at them from across the room and smiling back! Incredible!

We’ve also be told indirectly that some people feel bad sharing their babies milestones with us, please don’t! We want to know just as much as we would if Piper was where she should be developmentally, we don’t feel sad Piper is behind, we rarely wish she was doing more, we don’t look at other babies and feel any negativity that they’re doing more than Piper at half her age! She’s unique and we embrace that and how much she CAN do.

This week Piper turned TWO! It’s just crazy that 2 years ago we was leaving the hospital with her, but then not crazy as so much has happened in that time!

We had a lovely time away with some of our family to celebrate her birthday. We didn’t do anything last year as it was just such a hectic time and she had just got out of hospital the day before, so it was lovely to make it a bigger celebration this year.

She loves wind hitting her face, she says “lulla breeze” (love the breeze) every time, so there was no better place to be than at the beach, although this was the day after her birthday. On her actual birthday she slept the entire day and decided to party all night.

She wasn’t really 100% herself the whole weekend, she slept most of the day and was awake ALL night every night when it was quiet, then when we got home she was as right as rain again, this really showed us the importance of routine and how important a familiar environment is for Piper!

We think all the new noises around her, the different smells, everything just affected her a little, by the last day she seemed more herself, maybe where she got used it it?

We can’t wait to see what the next year has in store for Piper, walking, sleeping through the night (maybe), eating full meals, more singing and words, we can’t wait for it all!

Happy birthday Pipsqueak.

We love you so so much 💗

Blog 19 – Everything’s going great!

It seems to be agessss since I last updated this. I just haven’t had the motivation, and this is mostly down to Pipers sleep.

Her new awake time seems to be between 1am-9am.

Sometimes I’m lucky and she’ll sleep a few hours in that time but it’s becoming more and more often that she’s staying awake.

We received a letter from the Evalina hospital saying they have our referral and will be in contact soon – 3 months after the referral was sent! So I’m guessing if they have to send a letter saying they’ve received it and we don’t need to do anything, then it’s probably going to be a long wait still!

She’s managing between 6-12 hours of sleep in 24 hours, the average is 11-14 for her age, but hers is never a solid sleep and it’s mostly in little chunks here and there.

Come on appointment!

Pipers been on her growth hormone for around 2 months now. Before starting it she seemed to lose all strength in her legs and wouldn’t bear weight on them, thankfully she’s up again and she’s slowly making progress with being able to stand. Her PT & OT are starting a block of appointments with her to get her on her feet more, they’ll see her every week for 4 weeks, and her habilitation teacher – Lisa, said she’s going to try to come along with us for the appointments too.

(Practising standing and strengthening her core)

The first few weeks of her injections were quite horrible, it was so upsetting how she would cry with them, but now, she barely flinches. It’s still a little hard that this is now her “normal” but we’re grateful they don’t seem to bother her anymore.

In the last blog I explained about the likelihood that Piper will need a port-a-cath as her body can’t tolerate many more PICClines.

Well, the nurses and her professor have decided to completely leave her alone and not do anymore tests on her whatsoever until she’s showing symptoms of changes with her health.

We need to keep a very close eye on her for things like excessive sweating, her face looking grey, excessive weeing and thirst, getting drowsy around the same time each day (they said it’s usually around 3pm they’d show this symptom, but where Pipers circadian rhythm is reversed we basically need to take note of all times she’s not herself), vomiting and nausea.

It’s a lot of pressure to make sure we pick up on absolutely everything but we’re glad our little Pip doesn’t have to endure anymore tests for a while.

Piper was discharged from the feeding team a few weeks ago 😄 her intake is still minimal for her age but it’s enough that they don’t feel the need to see her anymore.

Earlier in the year we had an appointment at Moorfields with her Opthalmologist, Naz.

After all her eye checks (which she hated) they’ve noticed a slight improvement in her vision so she has a new glasses prescription.

(Having all her checks done)

We’ve had a few people asking why she needs glasses if it’s her optic nerves that are affected, to put it as simply as I can…. the glasses don’t help with her optic nerves. If she was a ‘normal’ baby and her optic nerves were fine, she would still have very poor vision and would need glasses to improve it. So basically she has two problems with her eyes, her optic nerves, and her actual eyeballs. The glasses are to help with her eyeballs.

So whatever vision she has going through her teenie tiny nerves, will hopefully be improved when she wears her glasses.

Stevie and I have been very busy lately making Piper her own little sensory space, and this is with massive thanks to everyone who donated to her gofundme, and extra special thanks to Matt, Tyler and Denay & Danny.

She absolutely loves it, so does Alfie, Bella and Mason!

We showed Helen – Pipers VI teacher and she was so impressed, she told us about a student in her school who also has a visual impairment, who wants to be a play therapist, and asked if she could bring her along one day to meet Piper, we obviously said absolutely yes! and Stevie also gave her some wood to take away so her student could make something herself for Pipers room.

Stevie set up an Instagram https://instagram.com/throughpiperseyes?utm_source=ig_profile_share&igshid=1kzh3bxom2kp , and it’s full of little updates about what’s going on with her, as well as lots of pics & videos of her sensory room, and her appointments etc.

Pipers speech is coming along brilliantly, I remember when she was 8 months old a local paediatrician told me her speech was only at 3 months and I was so put out by it, I knew she wasn’t that delayed, so I’m looking forward to her next assessment….and keeping my fingers crossed Piper shows off her skills.

She’s now saying around 15 words with meaning, she’s learning “ta” and she can join in with some of the words and actions to ‘head, shoulders, knees and toes’, ‘the wheels on the bus’ and she even surprised us with her own version of ‘Happy Birthday’, after only hearing it a couple of times!

….We’re still working on getting her to pass and accept things.

Before Christmas I sent Huffington Post a little email and link to my blog to help spread awareness of Pipers condition.

They asked me to write a small piece for their website, and since doing that, they asked me whether I’d like to be one of their UK contributors, so I’ll be writing some more for them soon.

You can read it here:

https://m.huffingtonpost.co.uk/entry/septo-optic-dysplasia_uk_5c362b0ee4b00c33ab5f1524?utm_hp_ref=uk-parents&ncid=other_homepage_tiwdkz83gze&utm_campaign=mw_entry_recirc

Moorfields called me just before Christmas asking if they could give another parent my number, just as they had for me with Kazmin.

We met up with Hayley and her daughter Elsie a few weeks later. Elsie is a year younger than Piper and she too has ONH.

It was so so lovely to meet them both, and they live pretty close to us too which is a bonus!

I’ve said it a million times, but It’s so nice to be around parents going through the same thing, and I love that Piper will have friends just the same as her.

Then a couple of weeks ago, Me, Kazmin and Hayley all got together with our babies.

I feel so lucky to have met these amazing girls 💗

So, everything here is super positive, Pipers doing amazingly well.

So much better than we could have ever imagined!

Forever may that continue 💗

X

Blog 18 – unexpected news

I’m gonna jump straight in with the negative news, we had an unexpected phone call last week from Sally – Pipers endocrine nurse. She called to say that they’ve been going round and round in circles, trying to decide what to do with Piper regarding the difficulty they have cannulating her, and the difficulty they have placing a PICCline in her.

She’s been speaking to the team that place her PICCline, and they’ve said it’s destroying her veins, and they think there’s only two more chances at a PICCline through her jugular.

This leaves us with two options, one – a permanent PICCline, this means no swimming or deep baths, it means a line constantly coming out of her body, and it runs the huge risk of Piper pulling it out… which obviously would have terrible consequences.

I’ve said a categorical no to that. I know I don’t sleep much anyway, but I literally wouldn’t be able to sleep at all knowing she could pull it out.

The second option is something called a port-a-cath. This means a procedure to place it under her skin, and the catheter attached to it will go into the large vein above her heart – where it will permanently stay.

This means everytime she has her bloods taken they will inject through her skin straight into the appliance and draw blood out that way.

It looks horrible and we’ve really struggled with the thought of it, but in the long run it means no more sedating or stress dosing, it should shorten the time we have to stay in GOSH for her blood profiling, and it means should she ever need immediate medical help (they expect her to fully evolve and have all characteristics of SOD including adrenal insufficiency) then they have direct access to her blood stream to administer medication.

(This is how it’ll look from the outside, but hers will be child size so a little smaller.)

It’s been a lot to get our heads around.

We’ve done a lot of research and speaking to others whose child has one and those who have had it themselves, and it’s helped us to see it’s probably more of a positive than negative thing, but it’s still difficult to think about her having one.

We will have a community nurse come over every few weeks to flush it.

A couple of days after the phone call, I emailed Sally to let her know our opinion on the two options, and that we think the port-a-Cath seems to be the best of the two. We should hear back this week with what the decision is.

We saw Prof Dattani a couple of weeks ago, along with Sally & Jess – her nurses, another endocrinologist, and two other medical professionals (he literally has an army follow him around), and he’s concerned that she may have diabetes insipidus, so we are awaiting an appointment to run these tests too.

(The Prof & Piper)

We spoke to the prof about her sleep (or lack of) and he has referred her to Guys Evalina Hospital, who specialise in sleep & sleep medication. Melatonin did nothing to help her, so this is the next step in trying to solve the problem.

(A very rare moment of us sleeping)

Asides from that the team are happy with her, and literally as I was writing this, I received a phone call from Jess, with the good news that her growth hormone has been approved.

They’ve sent the prescription off and contacted the home care team to arrange a date to come over to train us in using it. She may even be starting it this side of Christmas!

Piper is doing much better with feeding. Thinking back to how the other three were with food, I’d say she’s around where a 10 month would be with weaning. She’s still breastfeeding 10-12 times a day, which is still a huge amount, but it’s been reduced from 17/18 feeds a day, so she’s on the right track.

She’s enjoying both puréed and small lumps now – skips still being her fave, and she will even feed herself a skip!!

A month ago, Piper started sitting independently and she started crawling!!

Crawling is a mahoosive milestone, usually visually impaired babies bum shuffle or skip it all together.

It’s so cute, she’s so slow and cautious, and so far she hasn’t bumped into anything! She’s already able to crawl over to a big object & she tries to pull herself up.

(Pulling herself up on Mase…whose looking really grown up and big here! ☺️)

It’s opened up a lot we can do with her with regards to her physio and working out her field of vision. Her visual impairment teacher – Helen, is confident she’s picking up something with her eyes from 50cm away!

(Her biggest supporters)

She has grown in confidence with so many things in the last few weeks.

Those who know Piper, will know how quiet she is. We get comments from medical professionals all the time asking if she’s always so quiet, and the majority of people haven’t heard her speak at all.

She’s now babbling ALL the time! She’s said her first word with meaning…..”head” and touches her head (thanks to dadda for constantly singing “head, shoulders, knees and toes”).

She understands that “water” is her drink, “Num-num” is food, she knows when she’s getting in the bath by hearing it running (she lifts her legs up when you try to place her down on the floor instead of in the bath, and refuses to be put down til she’s in there)….. she loves the bath!

She decides when she wants a feed from me now, by launching herself into a position where she can feed.

She will put her arms up – to signal she wants us to lift her up, she will move herself towards or away from people…. depending on if she wants them or not, and she will shout (at Mason mainly) if something (him kissing her) is annoying her.

We’re still working on her with touching things, which seems to be a big sensory problem for her.

Anything that’s wooden or a hard plastic and she’s fine with it, but anything with a soft texture she won’t touch.

She also hates people holding or touching her hands. She retracts instantly if her palms are touched, so we always rub the back of her hand first, so it isn’t a shock to her when we touch her palms.

This time last year we believed Piper was totally blind, then we got the amazing news that her brain and retina was reacting to flashing lights, and since then she has come on so SO much, it’s actually unbelievable how much has changed in a year.

(Lucky shot of her looking towards the camera, oh…. and her eyes are finally brown!!)

We know her health has somewhat declined in that time, but it’s all completely manageable, and we constantly remain so grateful for the services and help she receives.

We’re at the bittersweet point now where she’s going to be starting long term medication, but we’re so excited to see how she progresses on it!

I look forward to updating this in the new year.

Wishing everyone the happiest Christmas ever!

Love Jade

Blog 17 – A year since Pipers diagnosis.

Piper had a stay at Great Ormond Street again a few weeks ago, for 3 days this time.

This was for the usual blood tests checking her pituitary function (thyroid, cortisol etc) and also a ‘glucagon blood test’, which is a more in depth test to measure her growth hormone, as the last one showed she had a deficiency.

It was a pretty tough stay, she was sedated again – this was the hardest one so far, she really fought it and took a while to go to sleep, but it was also the quickest sedation she’s had.

Her 24h profiling and Synacthen tests were all done by 4pm on the second day, and then we had until 7am with no more blood drawing, but from midnight that night she had to fast.

It was awful, the fasting lasted over 10 hours in total, and apart from the first 3 hours where she slept, she spent the rest of the time wide awake and sobbing where she was so hungry.

It must’ve been so confusing for her.

At 7 they started the glucagon test by injecting her thigh, then she had her bloods taken every 30 minutes for 3.5 hours. On the second to last blood draw I asked the nurse if her blood sugars had been ok, and just as she said yes, Piper took a horrible turn and started puking up bright yellow bile. She went really drowsy and we couldn’t rouse her, it all happened within seconds, so they stopped the test early and gave her some ribena through a syringe as her blood sugars went too low.

She came round enough to be able to drink it from her cup and then really quickly after having the ribena she was back to normal, but we had to stay a little longer than expected.

Enjoying the sensory room with Stevie and Auntie Babis came to visit too ☺️

Piper was also prescribed melatonin while we were staying there to help with her sleep – there’s not much to say about it as it doesn’t work with her.

We were warned it only works with 30-40% of children and Piper typically falls into the group who it doesn’t work with.

I’ve still been giving it to her on a particularly hard night when she just can’t sleep, on the off chance it helps at all.

(How Piper looks most mornings after a night of partying 🙄)

A couple of weeks later one of the endocrine nurses called me to let me know they was bringing forward Pipers next appointment with Professor Dattani.

As expected, she completely failed the glucagon (growth hormone) test.

A few weeks prior to her stay in hospital, we was sent three dvds so we could chose which machine we wanted to administer her growth hormone with.

We decided to go for the ‘EasyPod’ as it looks the most child (Jade) friendly, and the needle is completely concealed.

We was told it may take a while to get the medication, as it isn’t available on the NHS, and Great Ormond street would have to apply for funding for it, but because Pipers levels are so low (the highest-low they accept is 7 and hers was 3 point something) they’ve said she should be accepted straight away.

The nurse also spoke about Pipers cortisol result & how the endocrine team had to have a meeting regarding them, and had to use other SOD patients results to compare, as Pipers were so unique.

Initially they thought the lab may have got the times mixed up on her blood draws, but they looked back at all the cortisol tests she’s had, and where you and I make most cortisol at 8am and least around 4pm, she’s making most at 4pm and least at 8am.

It’s still in an ok range, phew! but they said they suspect she has a circadian rhythm disorder. We will discuss it properly with the Prof but it basically means her sleep and wake times are completely reversed.

It’s been a year now since we was given Pipers diagnosis of Optic Nerve Hypoplasia.

I will never forget the moment the first Ophthalmologist told us about her condition, it was so surreal, and we left so quickly after him telling us that we didn’t have enough time to process anything, or ask any questions relating to it.

If you remember, we was just given a scrap piece of paper with her condition scribbled on it and we was told to google it. I still have that piece of paper in my bag. I don’t know why but I haven’t wanted to throw it.

Its been a hectic year, full of hospital stays and appointments.

If you’d of told me when we first met Piper, that she would of spent so much time in hospitals, on ambulance rides, having countless blood tests, sedations, PICC lines and a brain MRI I would have never believed you – besides being jaundice at birth she seemed so healthy!!

It’s strange to think that for a few weeks at the beginning of her life she was just a normal baby, how we had no worries, and just how quickly that got ripped away from us and how dramatically our lives changed.

Ive noticed over the last year how we have adjusted to, and accepted her condition.

I used to take so many pictures to try to get just one good one of her looking towards the camera with both eyes straight, I didn’t post videos where her eyes were madly shaking side to side, they got deleted and I’d take a new video, I used to obsess over how far other babies her age had come on…. rolling, sleeping, crawling.

But now – we love her little turned in eyes, they’re such an important part in all of our lives, her shaking eyes (nystagmus) is becoming less and less frequent, but when they do really shake – we get excited! as it’s usually when she’s trying to focus on something. Her “whole” smile – the one I doubted was learnt and not inherited…. we don’t care where it came from, it makes us smile right back either way.

Her milestones, her milestones mean SO much more to us than they would’ve if she was a ‘normal’ baby – she’s not crawling, she’s not standing, she can’t sit unassisted, she’s a terrible eater and she’s not walking, but we know one day she will do all of these things and we are so excited for when that day comes.

(Her first aided steps)

She’s taught us to have hope and be optimistic, as far as we knew our baby was totally blind, and that she would never see us. Piper can now turn to us when we’re close enough and she will reach her arms up so we can lift her. She can distinguish between a spoonful of food and her cup (we know this as she turns away from her food but towards her cup for a drink).

There’s also – and obviously, some negatives too.

I live in fear, every single day, that she’s going to get ill. The slightest change in her mood, any different noise she makes, if she sleeps too much, if she’s off food more than usual and I’m instantly in a panic. I don’t just look over at her while she sleeps, I literally study her, especially her chest to watch her breathing & she has a breathing monitor under her mattress for the fear of the worst while I sleep too.

It’s the cortisol side of things that scares me so much, and we know its more than likely that soon she won’t make it herself, and that thought truly petrifies me.

I wish I appreciated my mental health prior to having her a bit more.

Ive had really terrible days and I expect many more. I’m frequently worrying myself into such a state that something’s gonna happen to me, Stevie or one of the kids.

The thoughts I have are just so horrendous, and where once upon a time I could tell myself were all healthy and that bad things wouldn’t happen to us, since Pipers diagnosis, I know bad things can happen to the least deserving of people.

I’ve noticed more and more lately that I also dread new people talking to us.

I always get the same comments of “she looks tired”, “has she just woke up” or “look at her looking around everywhere” (because of her nystagmus).

I just never know whether to go along with she’s tired, tell them she’s visually impaired or just nervously laugh. Usually it’s the latter, a couple of times I’ve walked away after and just cried my eyes out.

But despite the negatives, we wouldn’t change our situation for the world. I mean obviously if we could, we would take this all away from her, but for the most part we’re settled into her diagnosis and live each day as normally as possible.

Piper has bought new friends to our lives, who we probably would never had met if we didn’t have her.

(Kazmin, Steve, Cortney 💗)

We have the biggest support group around her, from the medical professionals, Helen – her visual impairment teacher, our friends,family and even strangers, who have shown so much kindness and generosity. Both our parents who help out wherever possible with Alfie, Bella and Mason so we can both go to every appointment.

Her uncle Matt who set up a go fund me for Piper, to help with anything she needs in her future, and for doing a triathlon in support of this.

…and her cousin Tyler (9) who then decided to do ‘tough mudder’ to raise more funds (and came 20th out of hundreds of 9-14 year olds).

Her brothers and sister – who show her overwhelming amounts of love, and Stevie, for giving so much love and attention to the whole family, for being my safety blanket and for having everyone’s back (because we all needed support one time or another).

It’s been a difficult year to say the least, but a very awarding one.

Piper has exceeded all of our expectations since her initial diagnosis and we can only hope that over the next year she continues to develop at the rate she has so far.

I read a quote once, funnily enough I loved it so much I shared it 6 years ago:

“Why do we close our eyes when we pray, cry, kiss or dream?….Because the most beautiful things in life are not seen, but felt by the heart”.

💗💗💗💗💗💗💗💗💗💗💗💗💗💗💗

Blog 16- Results, Genetic Testing & Development

We’ve had a busy week with Piper and her appointments.

On Saturday we were invited to a SOD support group, run by Professor Dattani and his team at GOSH.

We took all four children with us, and as soon as we got there, the the brilliant play specialists took Alf, Bella and Mason down to a separate room, where loads of activities, arts & crafts and fun games were all set up ready to be played with.

We went back up with Piper, and went into the room where Professor Dattani, Abigail – the nurse specialist (and most helpful person in the world), and a few other professionals were waiting.

Shortly after, quite a few more parents arrived, including our friends Kazmin & Steve and the group began.

We learnt in a lot more detail what SOD is, what it affects, and what research is being done on the condition.

The pictures below show what the hypothalamus and pituitary gland affects, both of which Piper has problems with.

I don’t think I appreciated before now just how important that tiny little gland is!!

Professor Dattani spoke about a current trial going on at the moment called ‘the 100,000 genome project’. It’s really complicated but the extract below basically says what it does.

“The project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.

The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments.”

The trial ends in September, with this week being the last week of recruitment, so we instantly put our names down for it, it’s a once in a lifetime opportunity.

We really enjoyed the meeting, it was good to be around other parents who have a child with the same condition, and finding out more about Pipers condition.

We’re so grateful the endocrine team do things like this, to keep us up to date with everything that’s going on.

Today we was back at GOSH for Pipers results from her 24h blood profiling & short Synacthen test.

Piper has recently been losing weight, but thankfully for the first time in months she’s gained some.

After she was weighed she had her height measured too, same drill as always.

(Piper enjoying a TV for the first time in the waiting room – she was reaching out for it 😊)

Then we got to see The Prof for her results.

Piper isn’t making enough growth hormone herself anymore, we kind of expected this to happen around now, so it was no big surprise. She’s grown just 14cm since birth, whereas the ‘ normal ‘ baby would have grown around 25cm in their first year.

This means Piper will need daily growth hormone injections, up until her teenage years when she has reached a normal adult height.

Piper is being booked in for another PICC line in 6-8 weeks to get a more detailed look at her growth hormone and so they can prescribe her the right amount.

A bit of a blow, but we’re not dwelling on it as the injections do so much good for her whole body. As well as helping her to grow, they are also good for her organs and will increase her muscle tone – walking baby here we come!!!

I’m sure you all know by now Piper is a terrible sleeper, and it’s getting worse week by week.

One of the first questions we was asked was “how is Pipers sleep” and after going through her sleep pattern (or lack of it) the professor has said it would be good to start Piper on melatonin.

Melatonin is a hormone we produce ourselves which makes us sleepy, if you look back up in the diagrams I added, you’ll see the hypothalamus affects sleep, so the prescribed melatonin will just enable her to fall asleep better, as she isn’t good at doing it herself.

Whilst this is something we will definitely look into in the future, right now I’m somehow coping with the lack of sleep, and it just doesn’t feel right to give a baby so young something that makes her go to sleep. It also only works with 30-40% of children too so there’s no guarantees with it.

We will talk about it more when she goes in for her tests in 6-8 weeks though, by then, I’ll probably be begging them for it 😂

After seeing the endocrine team, someone from the 100,000 genome project came to talk to us.

After a detailed explanation of what it does and how the results will be used, we decided to go ahead with it, so Stevie and I had our bloods taken, and Pipers will be taken when she has her PICC line inserted.

We were given the choice whether we wanted to find out if we have any genes that gives us a higher chance of getting certain diseases like breast cancer, bowel cancer etc.

It was a no brainer for us, if it comes back showing we have one of these genes, then it just means we have the opportunity to have earlier screening than the normal person would have, which would possibly lead to earlier detection too. We also consented on behalf of Piper to have these results sent to us about her too.

Straight from the genome test we then had an appointment with the developmental vision clinic with a consultant paediatrician and occupational therapist. We also met someone from the Guide dog association too who happened to be there shadowing the clinic that day.

They did different activities with Piper and assessed her development and her level of functional vision against other children her age with the SAME amount of vision as her.

I say ‘same’ in capitals, as the standard milestones for a baby were thrown out the window long ago for Piper, she’s obviously going to be different!

For her gross motor skills, they put her at 9-11 months, fine motor skills 10-12 months and social skills at 8-10 months.

We are pleased with the outcome.

We had a brief chat with Loretta from the guide dog association, they come in more handy when Piper is becoming a teenager, as it’s the typical age a child usually applies for a guide dog.

Piper saw her musical therapist – Laurence, again last week too. The first hour she was really quiet – it’s something we’ve noticed often with her – she needs time to get used to unfamiliar voices and new surroundings, then the last hour, Piper really interacted and joined in with playing all the instruments and dancing to the music.

That’s about all for now, Piper will have her cortisol (stress hormone) levels checked again when she has the growth hormone test, as The Prof is certain that it will drop too low soon too (although it was slightly higher than her last test – yay!)

Wish me luck, it’s the first day of the summer holidays with this crazy bunch AND we’re moving house in a few weeks too…..I might ask for some of that melatonin for myself 😜

Blog 15 – Piper is ONE!!!

At the moment were sitting in hospital, waiting for Piper to come round from her sedation/PICC line. She’s super tired so I thought I’d use this time to write about what’s been going on, instead of obsessively staring at her monitor – which keeps going off.

Since the last blog Piper has been doing really well, she’s mastered rolling over, she’s good at sitting 90% of the time -(we can’t leave her to do it independently yet as she loves to throw herself backwards but she’s getting there) and she’s getting so much stronger on her feet – she’s able to keep herself up holding on to us or the sofa.

Piper had her first appointment with the swallowing and feeding team last week.

Shes not great with drinking anything so we’ve resorted to using a free flow cup and we have to pour tiny droplets in her mouth or she chokes on it, and with puréed food she was gagging alot, although that has definitely improved over the last few weeks.

Everything other than breastfeeding, she has struggled with but I’m hoping with a little help she will overcome this asap.

It was a nice appointment, the paediatrician and feeding specialist were both really understanding of Pipers condition and made sure all their suggestions works around her.

They told me I may as well give up with trying to give her a bottle…. it’s never gonna happen if it hasn’t already! Oh well, I’m still happy to be breastfeeding her – especially when she’s unwell – it gives me a sense of relief knowing she’s still getting the good stuff to protect against all the nasties.

So to begin with, we’re now introducing the food Piper is about to eat, through her hands again.

This is so she has an idea of what texture is about to go in her mouth rather than it being a surprise – it makes perfect sense but it’s soooo messy!!

Over the last couple of months Piper seems to be losing weight, maybe it’s because she’s becoming a little more mobile but it’s a bit worrying, hopefully it’s nothing serious, and she’s also becoming sensitive to loud noises – so we’re going to get her a cute pair of baby ear defenders.

Piper had another visit from her PT & OT alongside Helen, her VI teacher (who comes fortnightly).

We were fully bragging about how good Piper is at sitting and rolling now, how out of nowhere she just mastered it etc, so we went to show them her amazing skills, and instead of playing ball, she laid flat on her face in a plank position and refused to move, and when we tried to sit her up she just kept falling to the side!

Eventually, after about 20 minutes of planking, she showed them everything she can do, and they were so happy with her progress that they’re not going to visit her for another 3 months ☺️

Helen is really happy with Pipers visual development too, she’s come on leaps and bounds since the first time we met her, and I know she’s going to keep excelling our expectations.

We’re working on getting Piper to move her focus from one toy to another, so when she’s holding one toy we need to try to get her to localise on another, drop the one she’s holding and reach out and grab the new toy.

She hadn’t done this at all in the few days after Helen visiting and then we went to see Babis (Karis) & Alex and without even knowing her new goals, Alex did it and she repeatedly went from one toy to another! Yay!

A couple of days later and we had Pipers 2 night stay at GOSH for her 24hour blood profiling and Synacthen test.

We had to get to the hospital for 7:30am, but we ended up getting in really quickly, so went for a little half hour walk to keep Piper happy (she had to fast from 4:30am and for a baby that feeds every hour, it was a long time to wait for a feed).

She didn’t fall asleep but she wasn’t moaning either, so we went onto Kingfisher ward and within 10 minutes saw the anaesthetist.

He went through a few things, I asked if she could be first on the list as I didn’t want her getting too upset or hungry, and then we took Piper to be weighed as usual.

He then said that Pipers endocrinologist has said she has to be stress dosed for the sedation, this is all to do with her cortisol (stress levels), as sedation can have a negative impact on it all.

She didn’t have this last time she was sedated, but as her cortisol levels are a little low they do it as a prevention measure.

Then at 8:30 we were called down for her to be sedated.

I held Piper as they blew the gas around her mouth/nose but had to look away for the bit where she fell asleep, it’s just not nice. Then we gave her a big kiss and had to wait back in our room, which felt miles away.

It took absolutely ages for us to be called to come and get her, I think it was just over an hour. I haven’t been away from Piper at all since she was born, apart from when she’s been sedated, so it felt like hours and hours she was gone for.

She took a really long time to fully come around and her pulse kept going really low, her monitor was going off every couple of minutes, but once she woke properly after about 3 hours it was all good again.

Stevie stayed til quite late with us (thanks to my mum and dad and Stevies mum for being on babysitting duty) and then I had the worst nights sleep ever with Piper.

She literally slept from 2:45-4:30am and that was it!!! Maybe the steroids she had with her sedation affected things?

Anyway, they decided that 6 hours after her sedation they would start the profiling which meant we may only have to stay in one night instead 😊

The next day our friends Steve, Kazmin and little Gracie were also at gosh, Gracie was also in for the same tests as Piper.

It was so nice to have familiar faces there and such a great coincidence that we had been booked in at the same time.

Piper was discharged around 6pm, we had to wait a little longer than expected as her PICC line really bled, but after the second compression dressing it was all good and off we went.

The dressing had to stay on for 48hours, so, as instructed we kept it on, and 2 days later we took it off.

Before we left GOSH, I asked if there was anything to look out for once we were home, and they said only if there’s excessive bleeding. Well, I had a look once the dressings were off and she had a big blue stitch in her arm!!!

I wasn’t told anything about a stitch at all, and all weekend I had to leave it as the ward was closed til Monday, and no one else could give me any information on it.

So I called them first thing Monday, only to be told it should’ve been removed so I had to go to our GP to have it taken out.

Coming up we have a SOD support group meeting where all the children and adults with ONH/SOD get together at GOSH for the day, we’re awaiting Pipers test results – which should hopefully be in within the next 2weeks, an endocrinology appointment with ‘The Prof’ and we have her first appointment at the developmental clinic.

On Friday our little angel turned one!!!

Happy 1st Birthday to you, beautiful little Pip!

You make us so happy and so proud every single day.

You are the happiest little soul with the most infectious smile, my heart skips a beat every time I look at your perfect little face.

You absolutely complete us, and I’m so honoured that I’m the one you get to call mama, you’ve been through so much already in your little life, but I promise every battle we will face together, and every hurdle I will help you overcome.

Little Pip I hope one day you read this and know just how special you are to us.

You deserve the world and we will give you the world.

Happy birthday little one

💗