You Received a Diagnosis, Now What?

BY JENNA GINES

You received a diagnosis? CONGRATULATIONS MOMMA!!! 

You just hit the jackpot!!

And you’re thinking… wait, what? My child has a diagnosis. How is that winning the jackpot?

You’ll see…

I know you were headed to Italy but that’s not where you landed. Welcome to Holland Momma! I know you’ve never been here & it’s a new place. I know you don’t know what to expect & that can be scary. I know how frustrating it can be when your plans get changed. 

But it’s so beautiful here. You’ll meet people you never would have met. You’ll join communities you never would have joined. You’ll learn & grow in ways you never would have.

This baby (or child) was sent to you for a reason. God knows you’ve got this!

Let go of the stigma, let go of the fear, let go of all the unknowns… 

I know there’s plenty.

And look around. It’s beautiful here. You. Your baby. This life. It’s beautiful.

I want you to breathe. I want you to cry. I want you to mourn the life you thought you had. I want you to mourn the child you thought you had.

And then I want you to accept it. Accept this new life. Accept that your child is their own, unique person, on their own timeline and it’s perfectly okay.

It’s okay to be different. 

It’s more then okay. 

It’s great.

Different teaches us diversity. Different teaches us how to love unconditionally. Different teaches us a lot.

So unpack those bags Momma & make yourself at home.

This is your new home & it’s so good & so beautiful. It’s just different. 

And that is okay.

You just hit the jackpot!

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Driving across Europe- Budapest

A couple of days relaxing in Croatia was a must before heading on over to Hungary because we knew there was going to be so much to see and do over the next few days! It took approximately 6 hours to drive from Croatia to Budapest which is where we stayed in Hungary.

We stayed in Budapest for 3 days but we could have easily stayed for more! We could not believe how much there was to see and do, we barely had enough time to eat or drink. Budapest is a great place for families, you can access mostly everything easily with pushchairs. The only attraction that was slightly difficult with a pushchair was the castle because there was quite a few steps with not many ramps!

Buda Castle:

Fisherman’s Bastion is a terrace in neo-Gothic and neo-Romanesque style situated on the Buda bank of the Danube on the hill around Matthias Church:

Széchenyi Chain Bridge is a suspension bridge that spans the River Danube between Buda and Pest:

Matthias Church is a Roman Catholic church located in Budapest, in front of the Fisherman’s Bastion at the heart of Buda’s Castle:

The Hungarian Parliament Building:

Danube Promenade is one of themost iconic symbols of Budapest which has a touching memorial to Jewish victims- with iron shoes. 

Margaret Island is in the Danube River, between Buda and Pest. This is where you will be able to find the Margaret Island’s Water Tower and Margitsziget Water Park:

Margaret Island’s Water Tower:

Magitsziget Water Park:

We know one of the main things to do in Budapest is visit one of their hot baths but we had our 3 year old with us so decided to go to Margitsziget Water Park at Margaret Island instead which was way more fun any way. We found Margitsziget which is a spacious water park which has lots of space for lounging around, many slides, swimming pools and even hot baths- you can easily spend a day here alone!

Is a Stay At Home Parent a Real Job?

When I was growing up, I always thought that I would be one of those mothers that would have it all figured out. I would graduate, get a job, get married and then have children. The truth is my life didn’t happen that way. I fell pregnant at 19 and didn’t it half take me by surprise.

I can’t lie and tell you all that everything in my life has planned out exactly as it would have done if I hadn’t of fell pregnant. But I am glad. I am glad that I am a mother. I am glad that I mean so much to someone so little and vulnerable.

I have been choosing GCSE’s, A-Levels and Degrees accordingly, since I was 16, to pursue my career choice as being a special needs teacher. Falling pregnant at 19 did not stop me, I finished university and I even went on to do my Masters in the Theory of Education.

We as a family have been through so much over this last 3 years. We have a little boy with a rare chromosomal abnormality that has a huge impact on our life. They barely know anything about it and sometimes it feels like they are using our son as a guinea pig. I struggle to hold a job down because of the amount of hospital and doctor’s appointments we have every month for our son. I have been battling with depression over everything that has been going on and I have recently been diagnosed with Fibromyalgia.

Things out of my control have stopped me from working. I am a driven person and I would love to be out working but at the moment, it is virtually impossible. To be honest, I do not need an explanation as to why I am not working because its our choice. People are quick to judge stay-at-home parents for being too lazy but working parents too have a lot of judgement for leaving their children all day with childminders. You can’t do right for doing wrong. So my advice would be to do what makes you happy.

Quite a lot of people think that being a stay-at-home parent is an easy option for parents that can’t be bothered too work. And i’ll be honest, so did I before I had a child. Being a stay-at-home parent is many things but easy isn’t one of them. It is the most rewarding job in the world but it can be frustrating, challenging and even hard work. Yes I said work. Just remember being a full-time parent is a job. It’s the same as being a childminder, nursery nurse, or even a teacher. We too are helping children develop and grow and be the best they can be- just in the comfort of our own home with our own children. So yes I am living my dream job after all. I am a teacher to my own child every single day.  

Are Doctors Advising That We Shouldn’t Have Another Child?

Our son as you know has XQ28 Duplicated Syndrome which is a rare chromosomal abnormality. At birth, our son was in Neo-natal for his low birth weight, temperature and sugars. During his time in neo-natal, they noticed that his head conference was small. Cut a long story short, this led to the diagnosis of his XQ28 Duplicated Syndrome. 

Since then, we have had a meeting every year with a genetic specialist which supposedly is someone for parents to talk to and feel comfortable sharing their experiences and feelings with.

As mentioned in my last blog, in our first meeting we were told that our son will never be able to sit, crawl, walk and talk. Our son proved doctors wrong and has overcome every milestone to date. We have had quite a few obstacles along the way but that’s what makes our life so interesting! Apart from that we have a happy and healthy growing 3 year old.

Our previous appointment, which was a few months ago, was what really left us speechless. I had so many amazing things to tell the specialist about how much he has already achieved but the specialist didn’t show any sort of interest. He didn’t look at him. He didn’t play with him. He didn’t even ask how he was doing.

The first thing the specialist said was:

“I gather you don’t want another child like Joshua, so I suggest you have no more children. If you do fall pregnant, I will make sure you are able to have an abortion immediately.”

I remember just staring for about 10 minutes in pure devastation at what just come out of his mouth. Not only had our son been rejected from a childminder for having ‘too much challenging needs’ but our own specialist was not even accepting.

Firstly, what exactly does he mean ‘Like Joshua’? If he is referring to the XQ28 then that is just a small part of what he is about. It doesn’t define who he is. His personality is so much more than that. He is loving, compassionate and hilarious. We get the privilege to see these special traits every single day!

I only had one thing to say to that specialist and that was:

“I wish I could tell you it was nice to meet you, but I would be lying. No need to book another appointment in because we won’t be seeing you again. You should be ashamed of yourself”.

I decided from that moment, that we most certainly do not need any appointments that are going to judge our son on what he can and can’t do. We are going to celebrate all the things he can do and nothing else matters. Our society needs to start understanding that every child is different that’s what makes us unique. Wouldn’t it be boring if all of us were the same?

I have been deliberating for weeks now about posting this because I didn’t know whether I felt embarrassed or ashamed. The truth is, I actually feel proud. I feel proud that our son is unique. And I most certainly would be delighted if I had another child like him. Perfect is a very strong word. And that’s exactly the word I am going to use. Our son is perfect. 

Living with Multiple Sclerosis: The Story of my Mum

‘To the world you are a mother, but to your family, you are the world’

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March 2014 mum had us all frantic after being rushed to hospital after losing sensation in the left side of her body, dangerously high blood pressure and intense headaches, all causing her to have dizziness and slurred speech. Mum was either crying in pain with her head between her knees or trying to communicate with us without stuttering.

Mum was emitted onto the stroke unit for a suspected mini stroke. She was sent for an emergency CAT scan to find out the damage the stroke had caused. The doctors explained that the CAT scan showed lesions on the brain. Lesions on the brain refers to any type of abnormal tissue in or on the brain tissue. The doctors were unsure on the cause of the lesions so she was sent for an emergency MRI scan for more answers.

Months later, 1st August 2014 to be exact, is a day I will never forget, it was the day my mum was diagnosed with the dreaded relapsing remitting Multiple Sclerosis (RRMS). We were heartbroken. As, for my mum, she was distraught. Absolutely broken inside. She thought her life was over. We had been living up North for 6 years by this point and she loved it but after the diagnosis all she wanted to do was run as far away as possible. She didn’t want to live here anymore. She didn’t want to be near a hospital that had given her such terrifying and devastating news. So she moved away, my mum and sister moved back down South. I missed her like crazy. I just wanted her close to us so we could support her but when my mum’s heart is set on something, she will do it. We saw her all the time though. If we weren’t visiting her, she would be up North visiting us.

It didn’t take long. Just under a year later, she told us she felt lonely down South on her own and she was moving back home where she belonged. There was something different about her. That smile and positivity that we all know and love was back. She didn’t lose strength by choosing to live closer to family. That decision made her strong. In fact, the strongest women that I had ever met. She made us all proud. She began to accept that a person can still be strong even if they do need a little helping hand from time to time. Having her family around became everything to her. Her family has always been the most important thing to her but we needed her just as much as she needed us.

In a local cafe we like to go, my mum treated us to hot chocolate and a cake. As my mum walked over towards me with the tray of drinks, she looked unsteady on her feet. She accidentally walked into a table and her hand was shaking so much the drinks were spilling, so I got up and helped her. Two old women were shouting “it’s not the place to bring a drunk woman”. I was absolutely disgusted that people could be so rude. What a way to shatter someones confidence.

It didn’t knock my mums confidence though and i managed to persuaded her to come to a threatre show with me. She was unsteady on her feet already so couldn’t manage the flights of stairs to the toilets,  she decided to use the disabled toilets. Some woman in a wheelchair behind her turned around and said “these are the disabled toilets, the normal women’s are up the stairs”. I mean how rude. Just because she isn’t in a wheelchair does not mean she doesn’t have a disability.

My mum has suffered with almost all the symptoms of MS. She’s had optical neuritis, fatigue, numbness and tingling, muscle spasms, stiffness and weakness, mobility problems, problems with thinking, learning and planning, anxiety, bladder problems, bowel problems and speech and swallowing difficulties. Some days are worse than others. Every day is different. MS is unpredictable. My mum always says the key to good health is happiness and positivity. And that she is.

My mum even now attends an MS society and has joined many MS online groups. We never thought she would join anything like these so that’s an achievement in its self. She was sceptical at first but she will now openly admit how much they help. She said that she no longer feels alone and there are many people she can speak to of all different ages going through the same.

No one of our family fully understand MS, but we are all willing to learn. My mum is learning what it is like living with MS. The rest of us, we are learning how to understand MS. Like I said, MS is unpredictable and we have to take each day as it comes.

MS doesn’t define my mum. It is just a disease that is a small part of what she is about.

Every day is a learning day. But, my mum’s confidence just improves day after day. Of course, she has many knocks along the way but she just overcomes everything that she is faced with. She is the best nanny to my little boy and the best mother to the four of us. She is our inspiration. The best mum we could have wished for.

XQ28 Duplicated Syndrome: Our Story

When the neo-natal unit took our babies bloods before he left the ward, we thought nothing of it. We were just so excited to finally bring our little boy home with us and start our new life together as a family of three.

At 7 weeks old, just a few days later from his bronchiolitis recovery, we received a phone call from a genetic specialist trying to arrange an appointment to see us. We tried to carry on but the appointment was always at the back of our minds. We knew our son had his bloods taken, so we did not know what might possibly show up. We thought maybe they just want to review our son after his recent discharge from hospital. You always find yourself thinking about the worst case scenario though. But we just didn’t know what could be wrong. We spent the days leading up to the appointment thinking the worst. It just felt like one thing after another. Hasn’t he been through enough in his little life already?

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At the appointment, the genetic specialist told us that we needed to listen very carefully as it is all a lot to take in.

The genetic specialist explained that our son’s blood tests were sent off for genetic testing for a suspected chromosomal abnormality because of his small head circumference. The results found that he has a rare chromosomal abnormality called Chromosome XQ28 Duplicated Syndrome. We had no idea what he was talking about. It felt like he was just throwing letters and numbers at us. It was the most daunting experience of our lives. He told us that it is extremely rare and there is no cure or medication. All they could do for us is offer support and yearly observations to watch Joshua’s development.

As if we hadn’t already been told enough bad news, the genetic specialist told us that it is likely that he will never be able to sit, crawl, walk or talk. He suggested that we prepared ourselves for the worse. One specialist even told us that the life expectancy for Chromosomal XQ28 Duplicated Syndrome is 12 years old. Our hearts shattered into a thousand pieces and we did not understand how life could be so cruel to our Joshua.

The genetic specialist told us that Chromosome XQ28 Duplicated Syndrome affects mainly men as it is the X chromosome affected. The reasons for this is because females have two X chromosomes so the non-faulty X chromosome takes control. Therefore, females usually become just a carrier. As males only have one X chromosome, boys will usually be effected.

Our son currently has asthma, absent seizures, irregular fits, traits of ASD and Autism.

Our son has overcome many milestones that specialist told us he would never.

We were over the moon when he turned over for the first time at just 5 months old…

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He continuously amazes us every day and at 7 months old, he even sat up for the first time…

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He crawled for the first time at 10 months old whilst following his daddy into the bedroom. We couldn’t believe it…

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Tears strolled down our eyes when he walked for the first time at 15 month old…

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We still don’t know what his diagnosis is fully going to mean for his future, but we do know that our son is the most sensitive, caring, compassionate and loving little boy in the world. He could not be more perfect in our eyes. I can guarantee that we are going to have many more obstacles thrown in our way. But we are ready to face them as a family when the time comes.