Grace for Rett » Grace's Life with Rett Syndrome

Ditching formula & going back to real food

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Grace got her feeding tube 5 years ago yesterday. It was the best decision ever. Not only can we get medications into her without fighting, we can keep her hydrated and fed when she isn’t feeling well. And of course, she hasn’t had aspiration pneumonia since we did it.

With the tube comes a monthly supply of liquid formula delivered to our door (thank you NHS!) and for the last 5 years we’ve been using nothing but that. I mean….it’s so eeeeeeasy. So why not? But recently I started feeling like I was just being lazy. I work so hard feeding the rest of my family but Grace just gets the easy stuff. So anyway, my first attempt can be seen below. It’s a journey we’re on. Weekdays are hardest while she’s at school. I don’t know if we’ll ever be 100% off the formula, but if we can cut it back by half I’ll be happy.

[…] Ditching formula & going back to real food […]

Epilepsy Mumbojumbo: Refractory or Intractable Epilepsy

I’m so absolutely wiped today so this post won’t be full of the witty smartassy brilliance I know you love (eye roll) I’m just popping by to share some new words I learned today (tadaa!)

Grace had her neurology appointment today and the Dr said something to the effect of: “…Grace’s intractable epilepsy…”


So here’s the lowdown: I guess 70% of epileptics can be controlled and made to be “seizure free”. When I asked what was the threshold for being seizure free, she said it’s 2 years without a seizure. It never crossed my mind that this was even a goal – that there are people with epilepsy who can achieve going for years without a fit. We can hardly go 2 weeks (or sometimes days) let alone 2 years. So Grace is in the 30% of epileptics with “intractable” or “refractory” epilepsy meaning it can’t be controlled.

She was referred to the clinic for information on starting her on a ketogenic diet. Cannabis could also be an option, but not in the UK.

So there you have it. And now I must crash…ZZZZZZZ

Deck the halls with broken femurs

“I have little bones” -Dolly Parton

From our family to yours, a few ideas for holiday activities:

  • Decorate cookies
  • Ice skating
  • Caroling
  • Family game nights
  • Watch your daughter suffer the most excruciating pain possible for a week before finding out she’s broken both femurs

Ya you heard that right. Grace broke both femurs during a seizure on the 22nd and because she can’t talk, we didn’t figure it out until the 28th.

I’m home after 3 days in the hospital with Grace and my eyes burn with exhaustion so I’ll give you the quick version:

On the 22nd, during a nappy change, Grace was hit suddenly with a “tonic clonic” seizure which her dad didn’t see coming. Her legs shot up in the air and (we now know) while the legs went one direction, the hamstrings pulled another and the strength of the muscle contractions snapped both of her femurs in the same place just above the knee. All the way through the bone.

Long story short, she’s in two very heavy casts for what could be as long as 8 weeks. Her legs are sticking straight out and so until we can modify her wheelchair and find the best place for her recovery, she’s on her back in a hospital bed. Our little English house, although beautiful and equipped for her normal life, isn’t equipped for the level of care she will need through this recovery. I don’t think our wheelchair accessible van will fit her in this situation so wherever she ends up next, she will need to be ambulanced there.

This new challenge has brought to light the fact that she has osteoporosis which is to be expected in a non-ambulant person like Grace and often, it’s the first big break which brings that diagnosis to light. So this will forever change how Grace is manually handled and cared for. No more clothes which are difficult to get on. No more changing her nappies/diapers like we have always done. Right now, it takes 4 people to change her and when she is out of her casts, it will still require two.

You may remember last December she experience a tiny break in her hip and a few days later, got her first bedsores (more on that here). Well those sores are still being managed a year later and so in addition to all this, we’re keeping on top of keeping her heels from touching the bed.

So with all of the specifics out of the way, some moanings from me…

It’s been said (and confirmed by Google) that breaking one’s femur (the longest, thickest bone in the body) is “more painful than childbirth”. I’ve heard men say that about all manner of testical related phenomena but I’ve read many’a woman verify that they have done both and, indeed, the “femoral fracture” was far more painful than childbirth.

So imagine that happens to you on both legs. And you can’t talk. And it remains for a whole week (for reasons I can’t explain at this time but some day I may get to tell you all about it. It’s a very sad story) and on top of it all, your parents think you just have soft tissue damage and so they keep trying to exercise your legs, get you dressed, move you around like it’s no biggie.

This scenario keeps playing in my mind and my stomach drops, I start sweating, get near to vomiting at the pain I feel when I imagine the pain my baby girl was in all that time.

So over Christmas, she did what any body under such strain would do…she shut down. Grace checked out of reality for 6 whole days. She slept about 23 hours a day. She shook. Moaned. Sweated. Ground her teeth. Curled up like she was bracing herself constantly. We thought she had the virus which had been going around so we gave her simple pain relief and monitored her temperature. Bloodwork showed that she didn’t have markers for infection and so we can only conclude that this was her body responding to excruciating pain. Fun fact: did you know the word excruciate was invented just to describe the torment and pain of death by crucifixion? I think it’s an appropriate word in this case.

She learned that week that anyone coming near her meant pain and so when people walk in the hospital room she begins to shake with fear that they will cause her pain. She will slowly need to learn that the worst is over and that the painful part is done. She has cracked half of a smile today for the first time, but anyone who knows Grace knows how out of character she is right now and sometimes I fear that this will have forever changed her.

The boys seem to be taking this like just another day in Rettland, but Steven & I are utterly reeling. I just don’t know how much one couple are supposed to be able to survive. But even moreso, this has been torment for our little darling girl and nothing -NOTHING- is worse than watching your child suffer while you are helpless to fix it.

Does it get easier?

“Does it get easier?”

“No. You just get better at it.” -The Good Wife

I spoke with a new Rett mum the other day. When Grace was first diagnosed, no one told me the things I needed to know. I was instantly sucked in by the charities and was only promised a cure, hit up for money, put to work, told that family support was useless and the only thing to focus on was research for a cure. (if that’s bitterness you sense in my words, you would be right…I’m not impressed that this goes on in the lives of newly grieving parents). This stunted my grief and many parents I know say the same. The process of grief which could have taken a few years has taken us twice as long.

Instead, I told this mom things I wish I’d been told:

  • That social services won’t tell her she’s entitled to direct payments to pay for help taking care of her daughter, but she can make it happen (and I told her how)
  • Giving her meds to achieve things many parents can achieve without them doesn’t make you a failure. That just because most kids can be soothed to sleep by their mummies singing and ours need tranquillisers, we are not bad parents.
  • God didn’t see fit to give us special kids. There’s nothing special about us and we are not equipped with some superhuman powers. We need a team to help us raise these girls and there is NOTHING wrong with making use of all of the financial and practical help available to you. No one is meant to have to handle things like this. This level of disability isn’t normal. It’s not doable alone and it’s not supposed to be. And it’s ok to have a tantrum once in a while.

These are things I needed someone to tell me. The practical help I needed. I learned most of this fighting the system and learning the hard way. Grace was denied disability living allowance THREE TIMES before they realised that Rett syndrome is, indeed, rather debilitating.

When I tell people Grace has Rett they say “the swearing thing?” To that, I say, “Not tourettes. Rett. Rett makes the parents swear.” Rett syndrome is bullshit. No, you’re not imaging it…this wasn’t supposed to happen to you. It’s ok to feel sorry for yourself. Rett syndrome doesn’t get easier. You just get better at it. And it’s a painful realisation, but one that can be the start of healing. Or, at least…fortifying.

If you’re the mom who gave birth to that kiddo, remember how you thought somewhere in the middle of those contractions that you were gonna die. That there is no way a whole human being can come out of you but what did you do? Steel yourself. Breathe. Push. Claw someone’s hand. Accept help (drugs!) and you did it. The superhuman part is over. Now, we just have to raise ’em.


Memory lane (how we told folks that Grace had Rett)

Facebook has that great “on this day” thing where it reminds you of things you posted on that day in previous years. Sometimes I laugh, sometimes I think “wow I used to be such an a-hole”. About this time 7 years ago, Grace was going through her sudden Rett regression and we were in the hospital, waiting for answers, having tests.

This blogsite didn’t exist back then so I guess I was blogging about it over on our little site where I kept our family up to date with life in the UK. But thanks to Facebook, I found some old posts. So here are some excerpts from posts about how we told y’all that Grace was sick:

November 13, 2009

Everyone has been asking exactly what happened to Gracie so here I am finally coming out and writing it so everyone will know. We’ve been concerned about her for quite a while, but never came open with everyone because we were waiting for answers. But then something happened and it turned from a ‘concern’ into a mysterious and unknown illness.

Grace was born on the 24th November (she’s almost 1)! She laughed for the first time at 2 months on my birthday (1st milestone). Then when she was 5 months old, she rolled over for the first time. After that, nothing. She never sat up on her own, never held a bottle, crawled, said a word or waved ‘bye-bye’. We thought she was just a lazy third child, always carried around and had brothers running circles around her. She always seemed very cuddly with her head on your chest.

7webWe gave her time to catch up and never had any other kids around us her same age to compare her to so we didn’t think anything of it. Then last week, I had an 8 month old baby in my photo studio who was walking around, sitting up and engaging in ways which Grace never has. It really was a wake-up call and I suddenly saw things in Grace which I never saw before. 2 days later, we went to the Dr. and he said that she is clearly very ‘delayed’ and has missed all of her milestones ‘by far’.

In the meantime, Steven had been away in Africa for 2 weeks and when he came back, he saw quite a big difference in her, having been away and coming back gave him a different perspective than I had.

Last Monday, she began crossing her eyes and would bring them back if we clapped our hands or surprised her. On Tuesday, she was cross-eyed for most of the day and couldn’t straighten them. She started looking at her hands strangely, as if the was discovering them for the first time. When she ate biscuits, she choked on the bits rather than chewing and swallowing them. We took her to the hospital that night and said that although she’d always been delayed, we were suddenly seeing changes in her quickly. She stayed overnight and the next day, she had blood tests, EEG and a urine test. The EEG was normal (no seizures). The bloods and urines will take up to 2 weeks to come back because they are testing many detailed things like looking her her genes, metabolic panel, etc. They will be doing detailed tests on her chromosomes.

We went home after 24 hours and the next day (yesterday) she woke after 12 hours of sleep with a heavy head and promptly fell back asleep on my shoulder which she did twice in the day. She has never EVER fallen asleep on me like that before. Also yesterday, she was unable to roll over like she could before. She did so a couple of times, but not without 5 or 6 tries to get over. Also yesterday, she started playing with her tongue more than usual – chewing on it, thrusting her food out a lot and when she lays on her back, it seems to be falling towards the back of her throat. So last night for bed, we put her to sleep on her tummy and tucked her in real tight so she couldn’t roll onto her back and choke on her tongue.

A positive development is that in the hospital, she seemed to begin asking for her ‘baba’ when she saw her bottle and yesterday, while we were having a cuddle in bed, she turned her head towards Steven and whispered ‘dadda’. It was beautiful. Today, she is rolling over. Also today, she started having a strangely clawed hand which she gets fixated on bringing infront of her eyes and looking at. It is her left hand and also the left eye is the one that turns in the most.

In herself, she is happy – giggly, smiley and not in any discomfort and for that we are so so thankful.

After 4-5 days of steady decline, she is having a really good day today and we are encouraged that a healing has begun.

We’re trying hard to hurry along the process of hiring a nanny to help us. Being that I have a business and we home educate the boys and Grace will need to start therapy soon, we just can’t do this on our own and stay healthy and stable for the kids.

Remember to send her happy wishes on her birthday in only 11 days! She will be 1🙂I will be keeping any cards, well wishes or blessings you send to her for her to keep forever and ever to know how much everyone loved her in her time of need.

God bless and keep checking back for good reports about our girl.

December 19, 2009 (D-Day)

6webWe were summoned to the hospital where we met the specialists who have been caring for Grace who sat me down. It was kind of like a movie – me on one side, them on the other. They very plainly just said “Grace has Rett Syndrome” and then we proceeded to talk about all that it entails and about her particular gene mutations which are special in her.

Girls with Rett can have it as a result of a single mutation or a mutation of two genes. She has the single gene. We now have to decide if we’re going to be tested to see if we are carriers. There is only a 5% chance that she got it from one of us and a 95% chance that it was a completely new gene developed out of the blue only in her.

The Drs said that the syndrome started up earlier than usual in Grace (around 6 months they predict) so they don’t know if they can predict the things we can expect in the future.

We’re meeting a geneticist who will look at her genes in detail to tell us more about her particular mutation and what it means for her future. It’s all very early days there are lots more tests to go. She has some symptoms which aren’t typical for Rett and she has to complete her neurological tests (including MRI of brain and spine as well as a possible spinal fluid test) to see if she has another condition in addition to Rett.

Because Rett is a neuro-muscular condition and she has a delicate immune system, the whole family will be getting swine flu and seasonal flu shots.

There will be no problem traveling to Florida (hopefully in February) and we’ll be traveling with letters to explain her condition should she need medical care or special considerations on the flight, etc etc.

Last night, I said ‘buh-bye’ and she copied me. It was the first time I’ve ever heard her voice it was beautiful. They said she is probably at the end of her regression period and will just continue gaining skills from here. The Dr. said that one of her 2 1/2 yo’s who got her retts at 16 months has just learned to walk. We are hopeful.

January 21, 2010

It’s been a while! Some bullet points to keep you updated:

  • Grace has started her MDA (multiple disciplinary assessment) which is two weeks with occupational, physical and speech therapists and then in two weeks, we will have a feedback meeting which will include the therapists and her doctors. This is where they all tell us their ‘findings’ as a panel and tell us their plans and recommendations for her therapy/treatment.
  • MRI tomorrow.
  • Grace makes great strides every day. Yesterday and today, she is happy and engaged with us. She is screaming to get our attention (an ear piercing, yet very good sign). She is engaging in the eating process (making eye contact with her food and working with her mouth to get it off the spoon).
  • She has become attached to a couple of toys which she hasn’t ever done before now.

I’m sure there’s more that I’m forgetting. Will write more after the MRI.

Feb 17, 2010

Wow it’s been a while.

Let me see…updates. Oh, yes…we decided to put the boys in school (!!) It’s not the life I’d planned, but then again I didn’t plan Rett Syndrome either so I’m just going with the flow.

2smlrGrace’s 3 weeks MDA (multiple disciplinary assessment) is over now and the verdict? She’s floppy. No joke. So now she’s been officially recommended speech, occupational and physical therapies and portage service. We’re also waiting for equipment for her. A special chair and a standing frame which looks a lot like a torture device to strap her into a standing position for a certain amount of time per day.

Her MRI came back normal so they’re just putting her ‘extreme hypotonia’ (floppiness) down to the fact that her Rett began at the extremely young age. Her Dr hasn’t ever had a patient whose Rett began as early as did Grace’s so she finds this all quite interesting.

Grace has been crying for 3 hours every night starting at 1am for 5 nights now. Inconsolable crying. I’m soooo tired.

F a c e b o o k