Category Archives: PTEN

Cowden syndrome 

My daughters genetic results came back and she has cowden syndrome.  I’m devastated for her, I just don’t have words for it.

I’ve still been getting to the gym. Its just about the only time I don’t feel like crying. I’m so glad I have a programme so I can be there on my own and not have to communicate with people, that stupid “how are you?” “oh I’m good” because no one actually wants to know that my heart hurts so fucking much I could physically throw up. 

The actual programme is 3 days with the option of a 4th

Day one :-Strict press 

                    upright row

                    triceps dips

                    bicep curls 

Day two:- deadlifts 

                     front squats

                     walking lunges

                     air squats

Day three :- back squat

                        stiff leg deadlift

                         hanging knee raises

                         plank 4 x for up to 90 sec

Day four :- same as day one but push press

Today was day two, the early part of the week was appointments. It was the right thing to go today, to physically move but God I wish I had the equipment at home, I just can’t face other humans when I feel like my heart is breaking 

Crossfit and university 

I missed three weeks of crossfit when I went back to uni,  the kids all caught back to school virus, I had a number of classes and one to one’s to teach. Then my dad ended up in hospital and throw university on top everything went pear shaped. University itself is going well and I got back to the box this week, one session last week and three this week. My PT is writing me a programme so I can go when suits me, they have many classes including early morning and mid morning ones but on my own week days I have too much child responsibly. Thankfully where there is a will there is a way and my own programme will work great. Truthfully with the Pten gene thing going on with my daughter I don’t really want to be in a group of people, all that “how are you?” followed by a polite “I’m fine”or” good and you”. I’m not fine, my heart physically hurts, but we don’t talk about stuff like that in group settings. So for a little while drawing in works for me.

Today in songs

I think in songs, I always have done. These are the three going round my mind today :-

Andy Black – We don’t have to dance.

It’s the “this is hell literal hell” line that’s stuck in my mind

Twenty one pilots – Stressed out

“wish I could turn back time to the good old days”

Yup I would give anything to have her back to a carefree tot without all these awful worries

Don’t Give Up – Peter Gabriel & Kate Bush

Because we can’t give up

All three pretty much stuck on a loop today.

I’m heartbroken¬†

My daughters PTEN test came back positive “you will be interested to know that we have identified an abnormality in the Pten gene in (daughters) sample. Interestingly, it would appear that this abnormality is only present in a proportion of her cells and this may mean it is less likely it is relevant to other members of the family” 

“interesting”? “interestingly”

Strange choice of words.

As she has already had thyroid cancer and has the Pten abnormality I’m guessing this means cowden syndrome. As Pten is a tumour suppressant gene it certainly means a greater risk of cancer throughout her life.

We have an appointment in a couple of weeks that came with the letter to discuss it.