A day in the life of - distraction phase...

I could make this really funny, or very long, but I won't... just in case you are wondering what a day looks like during a 4 segment lengthening...

- Get up and get ready, breakfast do morning turns and magnet, morning calcium

- Fi had to take paracetamol only 30 minutes prior PT at 8.30 AM

- 9-11 hospital for 2 hours of land therapy - time for mum for a coffee, catch up on work/admin/chores etc. 

- Be back to get ready for pool therapy by 11

- Shower after pool - always took us ages, I would rather let her enjoy a nice shower so we took the 1.15 shuttle home to Ronald McDonald House

- Do second set of turns and magnet 

- Lunch around 2, calcium

- Homework/tutoring 3-4

- Third magnet at 4

- 4-6 - 2 hours of tummy time to stretch hips, meanwhile afternoon home PT and stretches, 

- 6 dinner time, calcium

- 7 activity hour - (4th magnet before if needed)

9 bedtime: 3rd set of turns and 5th magnet if needed, evening stretches if needed.

Repeat Monday to Friday. Saturday-Sunday you have to do more home PT as there is none at hospital.

Limb lengthening - practical things...

I am slightly delayed writing this, a few months after removal, but hopefully I can remember all the practical things that helped us...

- Stay at a Ronald McDonald Hose if you can - the interactions with the staff and volunteers will give your child the much needed variety...
- Set up the home tutoring before discharge, it takes a while to arrange
- See if your child is eligible for free disability transport - in some cities they have a special bus service with a wheelchair lift - super helpful!!!
- Learn how to operate the wheelchair and get your kid used to it before surgery
- Use a backpack - shoulder bags and pushing a wheelchair don't mix well
- Blue medical bed pads ROCK when you have to move a child from a pool to a wheelchair into a shower - who says they are single use - Ours lasted months of showering and pool time
- Noone will tell you this before: your child will need a commode, get one to have ready after discharge
- You may need 2 grown ups to move a child around initially - find out - have a plan
- Push up bars help give your child extra length in their arms as they use their arms to move around
- If your child will have pool therapy every day, get a padlock, keep flipflops, shorts, all bathing things, hair dryer in a locker - will sav you all the carrying around...
- Traveling to the UK: we have a magical thing called 6+ paracetamol/acetaminophen oral suspension- you will want to buy bottles of this stuff, trust me
- Kids need to wear footplates all they long - whatever you do, ALWAYS put the darn velcro in the same spot...

I am sure there is a million other things I can't remember anymore, will come back and add to this

Limb lengthening: distraction phase

You start to lengthen about a week after surgery. Fi was in minimal to know pain, by the time we were out of the hospital she was on Tylenol only.
By the time we started to lengthen, she took daily one dose of tylenol, an hour before physical therapy. She slept through every night, so her pain has been a lot less than expected, except for the last 2 weeks of lengthening and walking/weight bearing, more on that later.

The lengthening phase is quite involved: she has 6 struts on her ex fixes, you turn 2 max at the same time, so you turn 3 times a week based on a colour coded schedule. As with anything it takes a bit of time to figure it out, but I have 0 manual dexterity and I could do it, so anyone can.
The internals you turn using a powerful magnet that you hold over the thigh over the line as marked for you. We have done 3-4-5 times per day, so the max was 8 turns combined. The most important thing is to keep track and write down what you have done. So you can calculate expected bone growth and compare to the x-rays.

Equally important and a lot more time consuming is the physical therapy exercises. Fi had 2 hours land therapy 5 days a week at the hospital + 1 hour of pool therapy most days.

They mainly focus on range of motion of hips, knees, ankles so the soft tissue can help accommodate the bone growth.

Fi's therapists have been absolutely amazing, her main therapist has been doing this all day long every day for nearly a decade, so every day if we had a question, she had an answer and she was always right.

You then also do several sets of exercises and stretches at home that you are taught, it is a lot of hard work, but very rewarding to see the progress.

There is no hospital PT on the weekend, so you get to work a lot harder during the weekend and Monday is typically their hardest, stiffest day.

The therapists take measurements regularly and before each clinic and the surgeon bases their decision to continue to treat and the rate of lengthening on the x-rays at clinic, physical exam and the PT report.

It's fair to say that Fi spent about 130-50 hours exercising/in PT/stretching per month.

The biggest lesson for me during this whole process is that you have to take it one day at the time, I am a planner, so I found that tricky.

The other thing is all the practical things, noone tells you about. Next post will be about that....

Hypochondroplasia - limb lengthening - surgery

The plan for Fi was to have surgery and lengthening on all 4 segments of her lower limbs at the same time, this halves the time spent in wheelchair, hospitalized, out of school, doing daily physio, etc. along with improving the overall proportionality.

Based on the size of her femurs and the lack of angular deformity, we knew she could get the internal fixator, the Precice Nail in her femurs. This means no bulky external fixator, no pin site infections, minimal scarring.

These can't be inserted into tibias of children still growing though, so she had to get externals on her lower legs, Taylor Spatial Frames (TSFs) which also helped with some minimal angular corrections that she needed.

A couple months before the surgery we traveled to meet with the surgeon and his team who discussed the plan with us in detail, we got to ask all our questions. Fi had a number of them as well and they all got addressed.

I think the thought of your child in pain is the most daunting for people. It certainly was for me. I will write about this in detail, but I can say that other than a few bad minutes during therapy she has only taken Tylenol following the surgery, once a day. Slept through every night and has been in a great mood - so all our expectations have been surpassed.

The surgery took nearly 10 hours and Fi's surgeon was able to do everything he planned to do. She had a wonderful anesthesiologist who listened to her tonsillectomy GA story and decided to change his approach and went with the TEVA approach for GA. They also did 4 peripheral nerve blocks at the very end of the surgery to manage pain. She woke up smiling in no pain.

She spent 3 nights in the hospital's pediatric ward, where they have a fantastic group of nurses, who know all about fixators and post op care for ortho patients. Every 12 hours we would get a new nurse and I always felt that nurse was the best nurse I have ever met in my whole life. Wonderful experience throughout.

Once the nerve blocks wore off, she was briefly put on a PCA on day 2, but it was making her super drowsy, so that was promptly stopped, she was given 2 stronger painpills (opioides) but we realised we didn't really need them, so we stopped and we went to our accommodation, the local Ronald McDonald House (more on them later) on Tylenol.

During the hospital stay the biggest things were for us to get used to the fixator, learn about pincare, learn the PT exercises we had to do several times a day from day 1 on and learn to transfer to the wheelchair from the bed and back and to the commode. The inpatient PT and OT came to see us every day and they were full of great advice.

Next chapter.: our experience and helpful hints fr the distraction/lengthening phase.

Hypochndroplasia limb lengthening 0

We tarted researching limb lengthening quite early on, it was something that we spent years talking and reading about, along with meeting with doctors and connecting with families whose children had it done.

I realize it's not something everyone might choose to discuss or consider with their child. I am very respectful abut everyone's beliefs and convictions and I have never engaged or will engage in a discussion abut whether limb lengthening is right or wrong. I respect that it's a personal decision.

The next couple posts will be quite factual about our experience.

I realised quite early on that if we wanted to consider limb lengthening, it would have to be done at a centre of excellence. A place where they do this surgery and treatment all day long, every day. There are 2 centres in the US who have vast expertise for limb lengthening for achondroplasia and hypochndroplasia.

It's a big undertaking, following the surgery when the bone is cut, the fixators are secured, you start to lengthen and can go about 1 mm per day, so to lengthen 5 cm in the femora and tibiae which was our goal would take about 2.5 - 3.5 months. There is no weight bearing during this time, so your child is in a reclining wheelchair with their legs extended in front of them. During this time you have to stay near the hospital to attend the daily physical therapy and regular check ups with the doctor.

This is followed by the consolidation phase which also takes a couple months when you can go home, kids can attend school, things become easier, but you still do therapy every day. After this, the fixator is removed, I am sure you continue PT as well to regain strength and correct gait.

We knew that we wanted to do the first leg surgery as young as possible which was 7.5 for a mature girl which Fi is.

We spent years figuring out the insurance, financials, basically the logistics, taking time off work, what we would do with the other 2 children, etc. I had lists of the lists of things we had to do, have ready etc.

hypochondroplasia GH treatment - our experience

Fi was on GH treatment for 2.5 years. It was not something we took lightly. I read every piece of research that was around both on GH treatment for achon and hypo as well as idiopathic short stature, along with the SAGHE study.

It took us years to find a pediatric endocrinologist  who was willing to do the same. She then spent 2 years monitoring Fi's growth, running relevant tests, etc.

Her IGF1 level was on the low normal side, so we had room to increase it safely, this seems to be a typical finding within the hypo common mutation group and probably the main reason why GH treatment is showing more hope than with achon.

After 2 years we cut a deal with our wonderful, trustworthy, listening, conservative but willing endo that we would do a year trial and extend on a yearly basis, our objective was to double her growth rate, if that wouldn't be the case anymore, we would stop the treatment.

This was a deal I was very happy with, I wanted us to try but I did understand that the growth increase can taper off after a year or two and then there is no point to the treatment.

We chose Zomacton because it comes with a needle free device. Took a few weeks to learn it, but we found it very easy, she probably missed one dose in the entire 2.5 years because I forgot.

She had 0 adverse effects, her bloodwork and bone age x-rays were done every 6 months in a pediatric hospital. First year she doubled her growth velocity to 9 cm, second year she landed at 7, we decided to watch for another 6 moths, and when it didn't pick up, we agreed to discontinue treatment.

She was on a low dose compared to the Polak study 0.025 - 0.033 mg/kg.

Overall we gained 10 extra cms in 2.5 years. I think some might choose to continue and play more with the dose, for us, we wanted to stick to our original plan and we knew we were planning limb lengthening anyway.

If anyone has any questions, feel free to email me. I will update this post with the questions (anonymously) and answers as I know this is a topic of interest.

Hello World!!!

I haven't posted for a few years now, for 2 main reasons, everything has been going really well for Fi and I started a new job and have been very busy.

I can't believe how so many people have been coming here to read, now I feel slightly guilty for not posting.

Over the next few days I plan on posting about a number of topics:
- GH treatment - Fi was on it for 2.5 years
- Limb lengthening - in the process now, so I have a lot to say about this
- School accommodations - hope I will find the time