Specialist Consultants

So here it is, the blog about specialist consultants.

I am not too sure at the moment which direction this blog post is going to take. We have been fortunate enough due to the location that we live in, to been seen by some amazing consultants, on the other hand some we have seen have left us questioning why that person would want to do a job they clearly don’t love.

First consultant, this was Livy’s paediatric consultant at our local hospital in Kent. We got the referral from our GP, due to Livy missing all of her milestones. The first appointment was fine, he didn’t dismiss our fears and immediately ordered for Livy to have a blood test done and told us the next steps. He also started Livy’s physiotherapy and occupational therapy referrals (although these did get lost within the system). Once we had the results of the blood test everything changed. That appointment was the worst, he gave us life changing news without any information. From that point on the relationship has been strained, I ask for referrals and it’s a battle, like any doctor he doesn’t know Livy very well, I know her best, but he makes me feel like I’m asking him to do the impossible when I am only asking him to do his job, everything has to be chased, appointments, referrals and even results. Luckily now we have most of Livy’s referrals in process, we should have to see him less and less. **Update-we are no longer under his care, as we no longer needed any referrals but he said he would keep us on his books just incase, did he, no, he discharged us!!!!!**

Secondly, we had a referral to a community paediatrician, they assess children with developmental issues. Our first meeting with him Livy was just one years old, he was brilliant and thorough, as a rule he won’t mark down that your child can do something unless he sees it at the assessment (which can be tricky as Livy doesn’t like new people and can be very shy) but he has another doctor there with him, so there is always someone watching out. At her assessment at a year old, he marked her as 6months old, some areas, she was better in, so socially she does well, but her speech is one of the furthest things she is behind in. At her review at 2 years old, she was marked at 12-15 month old, it’s encouraging to see the improvements that she makes, also that she is increasing at the same rate, it’s not dropping too much behind. That all being said the thing that I love about him, is that he is so thorough, he has the time to go through these checks, but also the time to check other issues, like her heart, that meant we were admitted and we got the secondary diagnosis of 2:1 AV heart block, mobitz type 2, then this time, he could hear my concern about her weight and height, he looked through her notes and made the decision to bump the appointment with her paediatrician so that we could get another test and referral done. He is encouraging but honest, most importantly he is friendly and approachable. The only down side is that he never schedules his appointments on time, I’m still chasing her 3yo review at 3years 4months old.

Other consultants, Livy seeing a Cardiac Consultant and Neurologist from the Evelina Children’s Hospital but at a clinic they run at our local hospital, so the big stuff (EEG, MRI) we have to go to the Evelina, but for the follow up appointment and ECGs can be done here in Kent. Like her community paediatrician, they also take the time to talk to you and listen to your concerns, more importantly they are incredibly friendly and they really put you at ease.

We do see some consults in the Evelina/St Thomas’s building and that is a faff but I’m grateful that I get to see them for free on the NHS when some people would have chosen to see them privately at the Portland Hospital.

It doesn’t matter who we see the things that I struggle with are, firstly having to chase appointments. There is only two departments that I don’t have to do this, with all the other I do, it’s frustrating, it’s a waste of my time, sometimes I do palm it off on Livy’s key worker from the hospital (I’m pretty sure that is her job, and to organise the Team Around the Child meeting). Why in this day and age can’t people have a system in place that when you say see you back here in 3 months you are seen in 3 months!!! WHY DO I ALWAYS HAVE TO CHASE YOU??

Secondly, when I question a consult on something that they have said, why do they need to get offended and put a black mark against my name? I may not be medical but I know my daughter better than you do. I may not know all the acronyms or terminology but I’m trying to learn. I may be asking because I don’t agree and want clarification, but there no need to get so wound up about, it seems non of these consultants are people persons, they have no bed side manner, I’m not trying to belittle you I’m just trying to educate myself.

Whenever I go to an appointment I always ask other 1p36 parents, for their experiences, what medications and doses/tests/treatments did their child have and I take that information with me. I’ll say the consultant I know that for this particular condition/treatment the average is this percentage but actually in 1p36 it’s much higher. They probably have never seen another 1p36 child, they have have never heard of it, sometimes it’s necessary for me to educate them.

So as a recap, we are lucky here in the UK to have the NHS provide us we so many consultants and specialists, but don’t be complacent, if it’s not working for you and your child, change it, you CAN request a change, you can complain to PALS, make sure above everything else that your child comes first.

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My Initial Response

After we had the results from her paediatrician that Livy had 1p36.32 deletion,  we went home,  armed with my microbiologist sister who had taken notes for us,  we began to Google.  One of the first journals she came across was the results by Shapira et al 1997,Heilstedt et al 2003b, Battaglia et al 2008. We started reading it and it said things like: 1p36 deletion syndrome is suggested by the characteristic facial appearance, hypotonia, psychomotor retardation, and poor or absent speech and is confirmed by detection of a deletion of the most distal band of the short arm of chromosome 1 (1p36).* As we were reading I kept thinking,  that’s Livy and that’s Livy and that’s Livy,  she really does have this condition, I was petrified.  It kept mentioning the word abnormalities, it highlighted things like seizures, I was overwhelmed with all the information I was reading,  and then my sister mentioned the words “special school” and I just began to cry.

This was not what I had planned for,  I prayed that God would bless me with a baby and we feel pregnant the 1st month we were trying,  then I prayed that the baby I was carrying would be a girl and I couldn’t believe how blessed I was when at the birth my nameless daughter arrived (I really felt like she was a boy). I had prayed that she would grow up to be healthy and strong,  but this prayer just didn’t seem to be answered.

I had so many expectations and dreams for her life,  I was going to be her mother and raise her right,  when she was an adult we were going to be friends like my mother and me. When reading that she had a 75% chance of not talking,  and even if she was in the 25% who can talk,  it’s mostly just word association and no sentences,  all my dreams were shattered. We were never going to have that relationship I expected us to have,  how could I be the one she comes and talks to when she won’t have any words to say? I always dreamt of the days where we would walk to and from the local primary school, chatting about what she likes and doesn’t like,  this was never to be,  she had a 25% chance she could walk in the future, but even then it would be with a wide gate,  everyone would look at her as she walked down the street and think “what’s wrong with her? Why can’t she walk properly?”. I knew then the reason we chose to live in this village was because then Livy could go to the special school rather than the mainstream school, fine she wouldn’t be walking but I could push her wheelchair there, it was less than a mile from our house.

It was not what I wanted, I wanted her normal to be my normal, I wanted her to be surround by fully abled children who would help her reach a higher potential.

I grieved for the loss of the child I had expected, whilst trying to embrace the child I had been given.

This day was 7 months ago and I’m still grieving. It’s not an easy process, I’ve been seeing a counsellor as everyone around me has just expected me to have accepted what the future now holds. Even family have tried to push me through the process, “oh but you’re fine now” “she is still our Livy” “you’re so brave and strong, I couldn’t do it”. Nothing anyone said was right. My husband and I drifted apart,  me deeper into my grief and him retreating from talking about it. It felt like we weren’t parenting together, I’d find about a new treatment for Livy and he would want to talk about, unlike me who just wanted to  sign her up for it,  he didn’t want to accept it, that she had this disability and our life wasn’t going to be the way we thought it was.

I found it very isolating, the only people I could talk to about how hard it is, was my counsellor, my mum and dad, a list of just 3 people. I felt that because of the pressure to move on and accept I had to outwardly portray that I was happy.

I found this very easy to do with strangers,  harder with friends and unfortunately I’ve found I even have to do it with some family members. Not everyone has to be in the inner circle of trust, to know when life is so hard,  when I find it difficult to see other children,  especially children a year younger than Livy reaching milestones that she is yet to reach/may never reach, to know that sometimes when it gets really difficult trying to raise a non verbal non mobile child that I wish life would end for both of us, free my husband from this burden and free myself from this pain and free Livy from the hard road of unacceptance from society.

I’m extremely fearful for what the future holds for Livy and for us, but all I can do now is love her unconditionally and hope that’s enough.

Diagnosis

I first knew something was different with my daughter was when she was around 7 months old. Like every 1st time Mum I was watching for the milestones, she didn’t hit any of them at the age she was meant to. At 7 months old, she had not rolled, she hated tummy time and she could not sit independently.

The problem was I had some lovely friends/well meaning strangers tell me things like: “oh I know a friend of a friend who’s child didn’t roll until they were 10 months old” “Albert Einstein didn’t talk until he was 4!” etc etc, which made me think everything would be OK in the end if I just gave her more time, however in my gut I knew something wasn’t right, but I thought I could treat “it” myself. A friend recommended a Chiropractor, to help with her stiff next, which was causing her flat head, it did help, but we needed to see her regularly and more and more problems were arising.

So I look Livy to the health visitor for her regular weigh in (she has always been small, tracking on the 2nd percentile). I thought this time I am going to talk to her about Livy’s other issues, she listened and agreed that everything wasn’t quite right, and it was best to see the GP, so I booked an appointment to see the GP, who then referred us to the pediatrician at the hospital. I took 2 months to get an appointment with the paediatrician.

By the time the appointment came around Livy was 9 months old, still unable to sit, to roll, to really support her head. I feel, looking back now, that I was very lucky because he also agreed with my gut feeling that she wasn’t “normal”. He said he would start by taking her bloods and checking for any abnormalities in her genes, he said not to worry, a lot of the population was walking around with something chromosomal wrong with them. The next step would be a brain scan. So we waited. He referred Livy for physiotherapy and occupational therapy. We decided to do some private physio sessions as the wait was too long (later found out this was due to them losing our request across departments).

The physiotherapy made a huge difference, at the age of 10 months old, she rolled over with some assistance, which then progressed into un-facilitated rolling, she was also beginning to tripod sit, which lead into sitting and playing. It made a huge difference to her.

I then began to google, with the knowledge of her issues I started to research, everything I put in led to a diagnosis of Cerebral Palsy. I had even figured out how she came about to be slightly brain damaged. I was ready to see the doctor again and to get the news I was expecting, a brain scan, to see the area that had been damaged by her drop in birth weight and her need for hospitalisation at just 5 days,  I knew it wouldn’t  be able to be confirmed that easily and that I would have to wait a few years for them to confirm the diagnosis. How wrong I was.

Not long after her 1st birthday, we had the community pediatrician appointment, this doctor deals with delays in development and is key to getting a special needs diagnosis. We went along, both me and my husband, Livy’s Dad, the doctors assessed Livy, he watched her play with another doctor, he broke her delays down into different areas: gross motor, fine motor, speech and language, self care and cognitive, she on average was at the stage of a 6 month old, that of half her age. Some areas were worst than others. He told us as she was behind in more than 2 areas she had Global Developmental Delays (GDD), this was huge, I was praying against this, I just wanted her to be delayed physically, not mentally too. But the worst was yet to come.

As he was doing other physical checks, he told us to expect something to come back on the blood results,  something chromosomal was wrong, in his words “she is beautiful but her nose is to small compared to yours and her ears are too low set”. Then he kept going back to check her heart, I knew something wasn’t right, why would he need to keep checking if it was fine. He told us that he heard a slight murmur, and it was best to have an ECG and Echo-cardiogram done of her heart to rule out any issues (I put this mainly down the fact that when I was pregnant they picked up that Livy had pericardial effusion,  but when she was scanned less than 24hours after birth,  they could no longer see the fluid surrounding her heart)

We were transferred across to the main hospital, we waited around all day,  until finally 12 hours after we 1st arrived that morning,  we saw a doctor who told us our daughter was “very interesting” to him,  she had a heart beat that he had only seen once before.  He explained to us her ventricles were missing every other beat! She had a resting heart beat of 60bpm, that’s lower than most adults. As it was an Easter bank holiday weekend we had to wait until the Tuesday before they could perform the 24 hour ECG tape for the Evalina Children’s Hospital. They did the tape on the Tuesday and we were sent to the Evalina the next day to see a specialist. She confirmed that Livy has a 2:1 AV heart block, Mobitz type II,  and that in the future she may need a pacemaker to regulate her heart beat for her.

Whilst we were in hospital for those 6 days we had a few doctors comment on why Livy had this heart problem, it’s uncommon for healthy children to have this issue, a few mentioned to us genetic issues.  So we knew it was now time to push to get the results. I emailed the hospital who had the bloods and I emailed her paediatrician,  we had a response the next day telling us to come in two days later. That’s it,  I thought,  they found something, my idea that it was mild cerebral palsy was shattered,  it’s something genetic.

We went to the appointment with my sister who was a microbiologist,  we arrived and the doctor sat is down and read from a letter.  He told us you daughter is missing part of her chromosome 1, this is the reason for her developmental delays and her hypotonia (low muscle tone). He could also tell us the size of the deletion 2.4mb (million bases). We started to ask questions,  but the response we got was “I don’t know I’m not a geneticist”. Ugh I felt so frustrated, I had a bomb hit me and absolutely no support from our hospital. We were told we would have to wait upto 6 months before we saw the geneticist at Guys hospital in London. Now began another waiting game.