Our Diagnosis Story

Hi everyone! Welcome back. I thought I’d tell about how we discovered the world of PCD.

We have 5 kids. That brings a certain amount of experience and knowledge. (And chaos, but that’s another blog post altogether…)

I had a difficult pregnancy with U5. Emotionally, I felt quite strange. I felt lost and hopeless. It was as if there was a constant dark cloud hanging over me, a feeling of emptiness and sadness. These feelings went away after the birth of my son.

The whole 9 or so months, I had a constant and inexplicable hacking cough, which ‘miraculously’ disappeared as soon as my baby was born. I now feel, given the situation, that it was nature’s way of giving me a taster of what life would be like for my son…

As a parent of two children with PCD, I’m constantly aware of their condition. When I look at them, I feel a squeeze in my heart – a strange mix of fear of the future, pride at their strength and resilience.

That’s not to say that we haven’t had a few sad moments. Or scary moments. Or plain frustrating moments.

Sad – Like the time U5 was diagnosed with new, different antibiotics (again) to take alongside his normal prophylaxis. He’s not good with ‘new’. He said some profound things for a seven year old, that haunt me.

‘When will I stop having PCD? I’m tired now. I don’t want to have these medicines all the time. I just want it to go away.’

I’m lucky enough to have an extended family around. Everyone soothed him and pampered him and helped him through his little breakdown, so thankfully he had his medication, and also perked up a bit when he got some presents. It’s the little things, eh?

Scary – when we took him into the hospital at three days old and his oxygen saturation was 85%. The nurses rush to put him on oxygen and frantic call to the doctor for help. Scary.

Frustrating – the explanation I had to give EVERY single time I asked for swabs to be sent in for cultures. This has to be done once in four to six weeks – and yet, every single time I had to go through a lengthy explanation about PCD and why I needed these tests done. I finally snapped, and asked them pointedly why all this information wasn’t already recorded in the patient database.

I’m extremely grateful for our early diagnosis. U5, who is 9 at the time of writing this post, was diagnosed at 3 days old – possibly the youngest patient to be diagnosed with PCD at that time. U3, who is now 16, was diagnosed at the same time at age 7.

With her, we knew something was up but just didn’t know WHAT. I’d even taken her to the GP just two months before U5 was born, but all we got told was that her chest is clear and there’s nothing that can overtly seen to be the matter. We were sent off with a nasal steroid spray. How wrong was the GP! If he had had any awareness of the symptoms of PCD, he would have taken me seriously when I said that my child has had a wet cough since birth, and always has a runny nose. Those two symptoms alone are enough for a test to confirm PCD. But of course we didn’t know this then, and neither did the GP.

The GP can’t be blamed. PCD is so rare that it’s not on the radar for the most part. And this is why raising awareness is so important. Amazing people have been working on this years. Fiona Copeland is one – find her on instagram and Twitter @pcdmum

Hers is one of the first stories we encounter on the PCD Family Support Group – the first stop on the internet for all the newly diagnosed patients and their carers.

This early diagnosis was a lucky string of coincidences. I was in a state of mild depression due to the difficulty of this pregnancy. I had a gut feeling that something wasn’t right. I just didn’t know what! All the ultra sound scans were clear. They didn’t pick up on a really important clue (more on that later). All I knew was that I was having another little boy.

U5 was born at term. He arrived on a Friday, quickly, without incident. He was wiped, wrapped and handed to me – the most adorable little bundle – all doe-eyed and cute. Then, he did an odd thing for a newborn. He coughed. That may not seem so odd. Babies cough and sneeze. But do they sound like they have a chest infection 5 minutes after being born? Odd…

We were discharged, and happily went home with our little bundle. But for 2 days my husband and I wondered at this little baby. Didn’t his breathing seem a bit quick, and shallow?

On Sunday, the midwife arrived for the 3 day check up. I asked her to check the baby’s breathing. She was an older lady, very comforting and grandmotherly. She counted his breaths per minute and decided to send us to the hospital. Not because she was worried, she said – but just for reassurance. Hers and ours.

At the hospital, the nurse was chatting casually as she checked him over. She then attached an oxygen meter to his finger to check his oxygen levels. The machine registered 85%. She said that the reading must be incorrect because that’s too low. Or the machine was faulty. ‘Not to worry – we will try another machine.’

85%. Again. And again.

The nurse went into panic mode. She immediately alerted a doctor. There was pandemonium for a few minutes. My baby was immediately hooked up to an oxygen mask. The doctor blasted oxygen into him and monitored his levels on the machine. His oxygen levels thankfully went up to 95%.

An x ray machine was ordered. The technician came to the room, rolling the machine in front of him because the baby couldn’t be moved and taken to an x ray room. An X Ray was taken. There were now two doctors and two nurses administering to my son.

I was in a panic. What was happening? What was wrong? This is when the doctors told me that 85% oxygen saturation in the blood is extremely, dangerously low. They needed to get to the bottom of what was causing this. They were debating on whether or not to admit us, depending on what showed up on the chest x Ray.

And what showed up on the x Ray was a shock to our family. My son’s heart was on the right side of his body! All his internal organs were reversed.

‘He has situs inversus,’ said the doctor. ‘I would advise you not to google anything at this point.’

(Situs inversus? I googled like mad as soon as she left us. It turned out that all of U5’s internal organs are reversed. And thankfully all work fine. It’s miraculous. And yet – none of this was picked up during any of my pregnancy scans. Why? I have no answer.)

‘We have decided to admit you. We will have to start a course of intra venous antibiotics as a precaution. We will take some blood samples and test them to see if there are any signs of infection. We need to conduct investigations to get to the bottom of this.’

We spent 10 days in hospital. For the first 24 hours, U5 was not allowed milk except for 100 ml every 4 hours. because of his high heart rate. The doctors were investigating, and told me the risks of the baby having fluid in his stomach. It was quite hard to watch my baby cry with unsatisfied hunger and not be able to feed him. He had a cannula in his little hand, an oxygen mask over his face and an NG tube in his nose.

On our second day in hospital, we met the wonderful Professor Chris O’Callahan, Professor of Respiratory & Paediatric Medicine, UCL Great Ormond Street Institute of Child Health. At the time Professor O’Callahan led the PCD diagnostic service at Leicester Royal Infirmary, one of only four nationally commissioned PCD centres in the UK.

Prof did a nasal brushing on U5. He explained everything that he was going to do and why he was doing it. He told me something that I will never forget, and that gave me immense comfort then, and every day since.

‘If it turns our that your son has PCD, then he is in the best place on earth for diagnosis and treatment of PCD.’

Well, my son’s nasal brushing showed abnormal cilia. We were looking at a certain diagnosis of PCD. And I was surrounded by experts! We met the lovely Alison Claydon, Cystic Fibrosis Specialist Nurse at the time (and now PCD specialist nurse) – who armed me with information and with a paediatric adjunct for airway clearance for my son. We started physiotherapy. She told me that it was actually good for my son to cry because it would help him clear his secretions by making him take in deep breaths.

I now knew for sure that PCD was what my daughter (U3) also had. I asked Professor O’Callahan why my daughter didn’t have the same uneasy breathing as a little baby that my son had. He explained that baby boys actually have smaller airways than baby girls, and that my son’s smaller airways were actually blocked with excess secretions, while my daughter’s airways would probably not have been completely blocked.

I was overcome with retrospective guilt. Why didn’t I do more to help my daughter reach a conclusive diagnosis? I thought back to her first few days. She had also had a cough at 3 days old, and a runny nose. Why hadn’t I visited the doctor instead of endlessly wondering what was wrong?

‘PCD is what I have. It’s not who I am.’

I remember reading this on the first PCD Family Support Group newsletter that I read when we discovered that we are a family with not one, but TWO children who have PCD. I can’t remember exactly who said it, but the sentiment has stuck with me. I hope to pass this on to my PCDers. After all, they are the ones bravely living with and dealing with this condition.

And it IS a ‘condition’. We use words like ‘rare disease’ (which I think frankly sounds contagious!), yet disease isn’t the right term.

PCD is NOT contagious. It’s something that my kids live with. Deal with. Contend with. Like Prof O’Callahan said to me, ‘This is normal for her. She hasn’t known anything different.’

PCD is one part of them. They have other parts of their lives too. U3 likes to read. She loves to draw, and paint, and bake. And she has to do physio twice a day. It’s just another part of the routine.

I’ve tried to make it as normal as possible. It’s part of the daily routine and rhythm. Sure, we have difficult days, but on the whole I think we are getting there. We can’t allow this condition to define us completely.

One physiotherapist mentioned something ever so useful. She said positivity plays a huge role in mental well-being. She said thinking of the glass as half full instead of half empty can hugely impact attitudes. Makes perfect sense to me.

(One thing I’ve tried to do is to make them ‘own’ their routines. Each child has a pretty little tin with all the paraphernalia that might be needed for a physio session – adjunct, tissues, hand sanitizer (this was way before covid-19 days!), small nappy bags to hold used tissues and a toy which encourages blowing. Also, they have what I like to call the ‘landline’ and the ‘mobile’ – a tin that stays home, and a tin that travels. U3 has a girly bag, and U5 has a cute backpack that carries all the ‘mobile’ stuff. That way, we always have everything we might need for an impromptu physio session. This tip was given to us by Rajinder Kang, physiotherapist extraordinaire. (Thank you, R!) She suggested always having tissues, and a bag to dispose of used tissues, to hand at all times when travelling. So we took it one further and made ourselves ‘physio packs’. )

We have so many amazing people who have helped and continue to help us along in this journey of ours. We are grateful. And as a mum, I’m very proud of my #pcdheroes.

Thanks if you’ve stuck it out and read this post to the end 🙂

Visit https://pcdsupport.org.uk for more info on PCD.

What do Mothers Of children with special needs wish we knew?

I’m a mother of 5 children, 2 of them with special needs. I didn’t think I was different from other mothers. It took a text from my daughter’s school to make me realise that maybe I was a bit.

We’ve all had those texts or letters. The warning kind. Succinct. To the point. Blunt even. Bulk SMS.

‘Your attendance percentage for the month of December was 66% which is below the required amount. Your average attendance for the year so far is 93%. Please ensure there is an improvement in your attendance.’

I received just such a message for my PCD teen. I was fine until I read the last line. ‘Please ensure there is an improvement in your attendance.’

I cried tears of sadness, frustration and eventually anger. I was sad when I remembered how U3, my PCD teen, lay in bed, feverish and weak. Unable to move or even eat  properly for a week. That was the week she missed school. I was frustrated when I remembered that I had filled a form and specifically mentioned her medical condition, and the fact she might miss days of tuition due to illness. How could they forget?! And I was angry at what I perceived to be a callous statement at the end of an unfeeling text message. How could she ‘ensure’ an improvement in attendance? How could she ‘ensure’ she would not have another infection that would knock her for six?

I immediately sent back a text stating my grievances. The school was contrite. They’d meant no harm. They apologised. And they said they would do better. They would remember that we are a special case.

To be honest I was a bit surprised at my own vehement reactions to a simple text. Turns out, I am sensitive to some things.

I wondered then at what other things mums who have special children are sensitive about. I communicated with three mums, and amalgamated their responses. It’s sobering reading.  


1. The first thing the mums said was that they wished everyone would acknowledge their child. A child may be non-verbal, or in a wheelchair, or both! A simple hello is fine. The mums felt hurt when people walked by the child as if the child didn’t exist.  Yet just simply acknowledging the child is a very easy thing to do. Make eye contact, smile and say a simple greeting and the child’s name. This child exists. They have a place in this world. The least we can do is acknowledge that. We may forget that a child has a disability especially if it’s a hidden disability. But the parent does not have that ‘luxury’. They always remember, naturally. And they always worry. That’s not to say that parents of able children do not worry about their kids, but we have to try to empathise with the different level of fears that the parents of special kids are dealing with.


2. 
The second thing mums said to me was that they disliked it when their child was excluded, be it from play with other kids or invites to parties and gatherings. Calleen Petersen from anordinarymom.site made a very powerful statement. ‘A child with disabilities often spends hours being taught how to interact with others. But why don’t we spend time teaching those without disabilities how to interact with them?’

It is our duty to educate our children to be inclusive and kind. We must teach them not to point and whisper. We must teach them to invite to play those who they see alone. We must teach them to speak up when they hear cruel words being directed to a disabled person. All this builds a sense of community. Lend your voice to the voiceless. Stand in solidarity with those who may not even be able to verbally thank you.

3. Be courteous. Give up your place in the queue to a person who is in a wheelchair or who has a child in a wheelchair. Don’t tut when others give up their place in the queue and now you’re two spaces behind instead of one. And never EVER park in a disabled parking spot if you’re not disabled. Those spaces are wider to make space for loading and unloading a wheelchair and they are closer to the doors or entrances.

4. If you’re inviting a person with a wheelchair to a gathering at your house, ensure there is a safe space to place the wheelchair. If possible, make available a spot for parking that is close to the entrance so that there is ease afforded to the wheelchair users. If possible, provide a private place for changing nappies. And make sure that you do extend invitations. Don’t assume that those with children in wheelchairs will not attend. Give them the option. Conversely, if you do extend invitations and the parents and children with special needs aren’t able to attend, don’t take offence. There may be several reasons why they can’t attend your gathering. It’s not personal. Small courtesies are highly appreciated.


5.  
The mums I spoke to told me that they didn’t mind being asked genuine questions about their children. But they did say that there is a time and a place for such questions. If there is a social gathering and there are lots of people around chatting – that’s not the right place for personal questions. Also, unless you’re a medical expert, don’t be nosy and ask probing questions that delve into the medical conditions a child might have! A parent will share what they are comfortable with sharing. Don’t push for more.


6. 
Parents with children who have special needs have a completely different routine. Sometimes they have no routine. They are up at all hours caring for their children. They might catch a quick nap at 10 am when their child is at rest. It doesn’t help when you say things like, ‘Oh you’re still asleep? I’ve been up for ages.’ Parents may also be quiet and withdrawn because they are worried or tired. They may not want to chat much or meet up or attend social gatherings. It’s nothing personal and shouldn’t be taken as such.


7.  
Another grave concern that parents of children with special needs have is infection control. Some children have weakened immune systems, and a simple common cold that you and I could fight off without the need for antibiotics might lead the immune-compromised child to be very poorly or even hospitalised. If we are sick, it is common sense that we should not visit the home of an unwell child. Germs spread very easily. If a parent of a child tells us something as simple as – ‘Please wash your hands.’ Or ‘Please remove your shoes before you enter the house.’ – then we should comply with the request. These are not attacks, rather they are genuine fears from parents who have to deal with the aftermath of negligence – an extremely sick child. We should respect these concerns and know that none of them are personal. And it goes without saying that we should never smoke in the home of such a child. This doesn’t even need to be mentioned!


8.
If we have special children in our family then it’s imperative that we are involved in their lives. Grandparents should go to school meeting and fun days. Other family members can offer help in different ways. The best bet is to just ask the parents – what can I do? They may not need anything, but the fact you asked is enough sometimes.

9. The biggest thing is to remember that we should never underestimate a child with special needs just because they are different from us. They are worthy of love. They are a gift to their parents. We should celebrate them, accept them and love them. It’s their world too. 

If you made it this far, thank you for reading! Please consider sharing this post on your media platforms. This post was part of a talk I gave for Rare Diseases Day 2020. #rarediseasesday #shareyourrare

MomOfFive

A few tips for younger PCDers. By MumOfFive.

Hello!

Over the past few years, after talking to the experts (doctors, physiotherapists, nurses and other PCDers) regarding PCD and its care, I have garnered some tips for my two PCDers 🙂

Offically, we are five years into our PCD journey. We are still learning, and any other tips and ideas we get will be added on to this list :

1. Physiotherapy – this is THE most important thing. Consultants, doctors, professors, veteran PCDers, nurses – all of them stress this.

There are many ways to get the twice daily dose of physio. I won’t pretend it’s easy, but it’s definitely worth it. Adjuncts, blowing games, tickling, trampolining – all of this counts.

Crying…because they’re filling their lungs to bawl their eyes out – counts  as physiotherapy. I am not recommending MAKING the kid cry – but hey, if they’re already crying anyway, make a session of it … remind them to HUFF and cough up and spit out.

Of course I would rather they laugh than cry – I met a lady who was diagnosed at age 25. She gave me the best tip ever – laughter therapy! Her words – a good laughing session with my friends is the best physio. I like the sound of that 🙂

Include other kids and make a mini competition out of the physio session. I have purchased several toys that allow blowing games. Things like flutes, whistles, harmonicas, straws, bubbles, pipes, ping pong balls, even just a huge tub of water with a bit of dish-soap in it – there is no end of ideas you could incorporate into your care regime. Strangely, U4 feels left out of the physio sessions – so I involve him too! He can huff like a pro now, and even though he has no need for chest physio, I figure it can’t harm him, and the competing element allows for more blowing for U5, who does need it! Win-win!

Lots of physical activity – U5 runs about all over the house, bouncing off the furniture and the walls like a mini-tornado – and we let him. Also, any opportunity to get in a walk, we take it. Of course, we could be doing more – and that’s something to aim for. More physical activities.

Swimming! This is not only fun for the kids but makes them expand their chest as well, which helps expand their lungs and allows them to shift the secretions. U3 was learning to be a rookie lifeguard, and just the number of laps she had to do made ME feel tired by watching… Need to start that up again, for sure.

Team sports – like basketball and swimming tag teams. I noticed that having someone to compete against boosted performance, which is always a good thing. Look for local clubs and join up. Your local council website usually is a good place to start looking.

Trampolining is always fun, no matter your age. My brother bought us a huge trampoline when he heard how it helps with physio (Thank you!). Of course, you must be sensible and safe – one person on at a time, etc – BUT a ten minute jumping session is enough as one physio session. Remind the kids to ‘huff, cough and evacuate!’

The flutter/acepella device is what we use everyday.

http://www.pcdsupport.org.uk/index.php/what_is_pcd/general_physiotherapy_information/using_adjuncts_for_physiotherapy/

The routine should ideally take 10-12 minutes for U3 (ten cycles of 10 puffs, five huffs and three coughs followed by spitting out the secretions into a tissue). U5 does 5 cycles. We stopped having ‘special’ physio cartoons or toys because I found that physio took much longer because of the kids being distracted.

Using fun vocabulary helps immensely. This tip was from a physiotherapist. For example, while teaching the kids to huff, tell them to imagine how they would feel if an elephant sat on their tummy. (All the air will be squashed out of them!) U5 tells U3 not to ‘fat’ her cheeks while blowing the acapella – he means that she should not blow them out like balloons while puffing on the acapella. (This one always makes me laugh!)

A lot of information is available on the PCD family support group website. http://www.pcdsupport.org.uk

Singing! There is a recommendation for a singing CD on the Pcd website. , which I bought. This is actually great fun when all the family joins in – you could play the CD in the car or at home and have a good laugh while doing the singing exercises. Everyone could do with learning how to breathe properly…

Buy here : https://rbhcharity.org/product/singing-for-breathing-cd/

2. Have a PCD care pack always ready to go. U5 has a little backpack and U3 has a pretty floral vanity case. We try to take these everywhere we go. There’s nothing worse than needing a tissue and not having one! We have learnt this the hard way. I have been known to use a scrunched up till receipt as a tissue… (Once, I had nothing but a piece of tinfoil…don’t even ask.)

The fact that all this paraphernalia is stored in pretty or ‘cool’ tins and bags helps the kids take ownership of their care items and eventually (I’m hoping) their care regime.

Our care packs contain:

tissues (always needed to clean noses or cough up into discreetly)

nappy sacks to put used tissues into

hand sanitiser to clean hands and kill germs after any activity that needs it, e.g. Blowing noses or touching dirt (boys – noise with dirt on it…)

a small adjunct for physiotherapy on the go, in case we left the house without getting Morning physio in or if they feel bunged up and need a short session of blowing cycles

a saline nasal spray, to ease blocked noses while out and about

paracetamol in age-appropriate doses (tablets for U3 and sachets for U5)

a small mirror to check for stray ‘bogeys’…

3. Saline nasal rinses. This has been  one of the best recommendations made to us by the ENT doctor. We do the rinse once a day, and it has made a huge difference in how clear their sinuses and nasal passages stay over the day. I would recommend EVERY PCDer to do this if they aren’t already, even the little ones. U5 started when he was 3, and I know of a kid who started when he was 2! The perks are plain to see – clear noses, less sinus-related headaches and less chest infections too. The germs that reside at the top of the nasal passages are cleared out daily. Of course, as with everything, cleanliness and hygiene are of the utmost importance. Information can be found here :

http://www.neilmed.com/uk/

4. Have a good relationship with your pharmacist. In case you ever need any medication out of hours or urgently, they should be able to get it to you. Explain the situation to them so that they too are aware of your requirements.

5. Good posture will help immensely with allowing the lungs to fill to maximum capacity possible.

6. Change toothbrushes frequently as they do harbour germs.

7. Lastly, talk with the kids. Having PCD is not the easiest thing, but it is part of them and they don’t know any other ‘normal’. Everything related to their condition – be it physio or taking medications – should be incorporated into their daily schedule so that when they have to take over their own care eventually,  it will be second nature to them.

This isn’t an exhaustive list, and we will be adding to it if we think of anything else. Leave us a comment if YOU have any tips for US 🙂

Disclaimer – we are not associated with any company or website.

Hilarious Origin of Names of Towns and Locations in Kenya

Kenyan History

Kenya is home to many trading centers and towns some with very interesting names, but have you ever thought of how the name of your town or village came about? Some of the names came about by what we can term as sheer coincidence and twists which are funny.

Dagoretti Corner: The place was originally known as “The Great Corner” and the Africans could not pronounce it correctly and the corrupted version became Dagoretti Corner which was directly from The Great Corner which has stuck to this day. The Great Corner was the site of the first airfield in Kenya; a patchy grass runway around the present Meteorological Department.

Image

Rumuruti: Rumuruti is a town in Laikipia County about 40km north of Nyahururu. How did it get its’ name? The town was on the route from Nyahururu to Mararal which was commonly used by white settlers. They referred to the…

View original post 659 more words