Hugo’s diagnosis

It has been 6 months since our beautiful baby boy Hugo fought so strongly to meet us, lovingly brought in to the world by his surrogate, Aunty Rach. Since then, our family has been put in the capable hands of the genetics team in order to help us to find out more about Hugo. This blog post will provide an update on those findings as we understand it. Please understand that I am just a mortal human, not a medical professional, and if you have come across this blog as the result of your own investigations, I strongly suggest discussing your circumstances with a geneticist. Please forgive me if I use an incorrect term here or there – this information is all very fresh and we are yet to receive it all in writing.

Anyway, back to Hugo 🙂

Hugo had (ugh, I hate writing had! He will always be here in my heart, so I’m going to write “has” :))

Hugo has a condition called Nemaline Myopathy. If you google that, it’ll come up with all sorts of information about a whole lot of stuff that does and doesn’t relate to Hugo. Hugo had the most severe, earliest-onset form. Some people with Nemaline Myopathy go on to lead pretty normal lives. Some don’t. Some don’t live at all. Hugo lived for 4 days.

Humans have around 20,000 genes. Hugo’s condition is caused by a mutation in one of these genes. The name of the gene is the ACTA1 gene. The geneticist explained this as being like a spelling error in the body’s instructions. Each gene has a long sequence of DNA. One of the “letters” in this sequence had a spelling mistake.

This happened when Hugo was a single cell – either a sperm or an egg (this part is unknown).

When a sperm and egg are created, they are formed by way of duplication. When things get duplicated in those very first moments of life, it’s kind of like asking someone to copy an encyclopedia word for word. These words contain instructions on how to “build” a human. Sadly, this process isn’t perfect. Sometimes there are “spelling mistakes”, which sometimes is a problem, sometimes it isn’t. Hugo’s instructions (within the ACTA1 gene, in position 440), had a single spelling mistake. This is the first time that a spelling mistake in this particular position has been documented in medical literature. However, Nemaline Myopathy is by no means unique to Hugo – it encompasses a broad range of similar conditions.

Hugo’s instructions should have said “please produce <an amino acid> to make Hugo’s muscles healthy and strong”, but instead, the instructions said to produce a different amino acid, resulting in his condition.

In Hugo’s case, it is (in all likelihood) a spontaneous error that occurred.

It was not inherited from his mum or his dad. We will not develop the condition later in life.

It has nothing to do with the tummy he was grown in, or his mode of conception (IVF).

It has a stupidly low chance of occurring. Think of it like lightning striking. Please address all complaints to the universe with a stamped, self-addressed envelope. I suggest including many swear words, as well as copious amounts of glitter, so when the universe opens your complaint, they are left with a butt-tonne of glitter to vacuum up. F U universe. F. U.

Yes, lightning can strike the same family twice. In 1% of cases like ours, this happens. This is due to a theoretical chance that there is a form of mosaicism in either Hugo’s dad’s testes, or my ovaries – meaning that even though our own DNA tests do not display the mutation, that *somewhere* in our reproductive organs, this error occurs. In *theory*, there’s a 1% chance of this happening. To someone who has gone through the trauma of losing a child, 99% is not high enough to abate the worry.

People with Hugo’s condition are generally mentally well. They can usually see, hear, and feel touch. We feel comforted to know that in all likelihood, Hugo would have heard us, seen us, and felt our touch. He has forever touched our hearts. Fitting perhaps, that the name Hugo means “of strong mind and spirit”.

As to “where to from here”, well, that’s another blog post entirely; but all I can say is, this always has been, and always will be Hugo’s year <3 Our team stands strong as a family, and feels hopeful to have the chance to attempt to add a new member to the fold in the future <3

9 thoughts on “Hugo’s diagnosis

  1. Thanks for helping us to understand Hugo’s condition. It’s heartbreaking that Hugo had the ‘spelling error’ in his code. I’m glad he’s been surrounded with love before, during and after his arrival. You’re an eloquent mummy and part of a tight family unit.

    Buckets of love.đź’•

  2. What an incredible, eloquent woman you are. Thank for sharing what Hugo has – so simple an *error* that has had such a devastating impact on your family. I’m here with you all the way, wherever this journey takes you next xxx

  3. Lots of love and big hugs.
    Thanks for sharing your update on Hugo’s condition.
    I guess it helps with understanding and to think that he heard,felt and k ew he was surrounded by love is a beautiful thing.
    Always thinking of you.

  4. Hi Marian
    I am very sorry that you lost your beautiful baby boy. It is a testament to your strength that you are able to
    Write about what happened and even more amazing to see
    Photos of you and Rachel at the hospital still managing to smile. I cried when I saw your photos partly because it bought back memories of our daughter who we also lost when she was a few days old and partly because I was profoundly sad for what happened to your little boy. Thank you for sharing your story. I was unable to talk about what happened to my beautiful baby Indigo for such a long time. It has been five years and I have only just started to smile again. On a happier note I loved the photos of your cat they were hilarious!
    Sending you lots of love from someone you don’t know but cares all the same
    Xxxx jodi

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