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.
Petite yet fierce - Ramblings of a pathologically information hungry mother about hypochondroplasia, about rearing 3 girls in a foreign country and about all the random thoughts my sleep deprived and over-stimulated brain can come up with.
Showing posts with label Growth Hormone treatment. Show all posts
Showing posts with label Growth Hormone treatment. Show all posts
Sunday, February 24, 2019
Sunday, November 23, 2014
New article on growth hormone
The long awaited article has been published. Here is the abstract. I have the full published study if anyone is interested, just e-mail me for details.
Why was this study so awaited?
- First ever study for GH treatment for hypochondroplasia where adult height results have been achieved.
- Comparison between treated and untreated cohort
- A growth curve has been modeled (this is the usual catch for hypo as there are no growth charts).
Are the results different from other publications?
-Not really, no safety issues have been highlighted
- And it states as previous studies that treatment results very greatly by person
Why is it relevant then?
- Modeled growth chart
- Adult height results
-One of the longest studis
Tuesday, October 2, 2012
The price...
A very good friend of mine is an Australian GP who is in charge of a feeding mission in Manila. 2 of the kids in her program died today of malnutrition, they were too late starting to feed them. This world is a place of injustice and misplaced priorities, billions of euros/dollars are being spent on aid and not much seems to be changing. Those children needed the very basics of the Maslow hierarchy: they needed food, clean water, sanitation, a home, parents with an education and a job rather than being second generation on the feeding program...
At the same time we are about to embark on the journey of growth hormone treatment, the cost of which would be astronomical if we had to pay for it ourselves, I think it would be close to about 40,000 EUR a year. What would be the cost of 1 cm of growth, I don't even dare to calculate it... What would be the impact of being - 2 SD on the average height charts growing up as opposed to -3 SD, not expressible in monetary values...
At the same time we are about to embark on the journey of growth hormone treatment, the cost of which would be astronomical if we had to pay for it ourselves, I think it would be close to about 40,000 EUR a year. What would be the cost of 1 cm of growth, I don't even dare to calculate it... What would be the impact of being - 2 SD on the average height charts growing up as opposed to -3 SD, not expressible in monetary values...
Saturday, September 22, 2012
Looking through our window
Fi's favorite spot in our house is to stand in front of our bedroom window. We have huge floor to ceiling windows with a little step-out balcony - pretty silly for the Irish weather, I would have said 2 years ago, the wind blows through the double glazed windows and we freeze to death in the winter (and the autumn and the spring)...
She loves to stand there, she cruises endlessly from one end to the other, it's a good 20-30 steps for her. She loves licking the glass and drawing with her hands on it. She watches the cars at the round-about, the birds, the trees , the dogs, the babies. She watches life.
Not so long ago we would stare through the same window at night, waking up each night, not being able to go back to sleep, worried if our not yet born baby would live. Worried if she would live and have a horrible life, worried how our other children would be impacted. Then once we had the diagnosis, I would lay there at night, trying not to wake my husband thinking if Fi would have seizures, if she would ever speak, if she would have cognitive problems.
And here she stands, chattering away like any other child, but her normality bringing so much more joy to us.
We are back from France, what a whirlwind bizarre day it was. We took the business flights, first one out, last one back. Took the metro, did the whole wining and dining bit... even made it to a park to play - we actually had a fun day...
Meeting with the professor whose pet research interest has been treating Fi's exact HCH mutation since the 90s was equally weird. There I was sitting across him with my child who has a rare condition that can't be treated and he goes on to tell me how he has been treating children since the 90s and how the GH treatment can help with some growth and with some of the disproportion. He says that since he published in the Journal of Pediatrics, he now sees a new HCH family every week.
Fi can get the treatment if we want to, it's only for us to decide if we go down this route, if we seek a second opinion and a third one (knowing myself).
I am astonished by humans' adaptability, I was raised up to believe that the worst thing that can happen to you, is to have a sick child. Here I am, a year later, and I have hope for my daughter and I am actually happy... We are weird creatures, throw us on a desert island and we will thrive, unfreakingbelievable... And the mothers I have met in this year. We should run countries, the world would sure be a better place if people who have this much energy and compassion for others would be in charge...
She loves to stand there, she cruises endlessly from one end to the other, it's a good 20-30 steps for her. She loves licking the glass and drawing with her hands on it. She watches the cars at the round-about, the birds, the trees , the dogs, the babies. She watches life.
Not so long ago we would stare through the same window at night, waking up each night, not being able to go back to sleep, worried if our not yet born baby would live. Worried if she would live and have a horrible life, worried how our other children would be impacted. Then once we had the diagnosis, I would lay there at night, trying not to wake my husband thinking if Fi would have seizures, if she would ever speak, if she would have cognitive problems.
And here she stands, chattering away like any other child, but her normality bringing so much more joy to us.
We are back from France, what a whirlwind bizarre day it was. We took the business flights, first one out, last one back. Took the metro, did the whole wining and dining bit... even made it to a park to play - we actually had a fun day...
Meeting with the professor whose pet research interest has been treating Fi's exact HCH mutation since the 90s was equally weird. There I was sitting across him with my child who has a rare condition that can't be treated and he goes on to tell me how he has been treating children since the 90s and how the GH treatment can help with some growth and with some of the disproportion. He says that since he published in the Journal of Pediatrics, he now sees a new HCH family every week.
Fi can get the treatment if we want to, it's only for us to decide if we go down this route, if we seek a second opinion and a third one (knowing myself).
I am astonished by humans' adaptability, I was raised up to believe that the worst thing that can happen to you, is to have a sick child. Here I am, a year later, and I have hope for my daughter and I am actually happy... We are weird creatures, throw us on a desert island and we will thrive, unfreakingbelievable... And the mothers I have met in this year. We should run countries, the world would sure be a better place if people who have this much energy and compassion for others would be in charge...
Wednesday, August 29, 2012
The methodology
We are in the thick of it now: school is starting tomorrow for Tara and Monday for Lia. I am still doing my old job and the new one and have a very interesting project that I am running at work as well... And we have 5 doctors apts between now and oct, 2 trips abroad, countless playdates and event... But I am not neglecting my reading about GH treatment for hypochondroplasia...
So here is what I have been doing, my mind is about to explode:
- Understand GH treatment, the history, how it is used for non- GH deficient children
- Understand the history and findings of GH treatment for children with hypochondroplasia
- Because I am the most risk averse person on the planet, I have read lots of studies on the safety of GH in general: including the infamous original French SAGHE study - if anyone wants it, let me know I have it from the Journal of Endocrinology, and the Belgian/Danish study and the critiques of the French study
- Then I have read about any potential adverse reactions for HCH/ACH
So now, I will just have to find the time to summarize my thoughts, share the links and then formulate my questions for the visit with the French professor...
So here is what I have been doing, my mind is about to explode:
- Understand GH treatment, the history, how it is used for non- GH deficient children
- Understand the history and findings of GH treatment for children with hypochondroplasia
- Because I am the most risk averse person on the planet, I have read lots of studies on the safety of GH in general: including the infamous original French SAGHE study - if anyone wants it, let me know I have it from the Journal of Endocrinology, and the Belgian/Danish study and the critiques of the French study
- Then I have read about any potential adverse reactions for HCH/ACH
So now, I will just have to find the time to summarize my thoughts, share the links and then formulate my questions for the visit with the French professor...
Thursday, August 16, 2012
Another study update about GH treatment
Thanks to our Belgian correspondent, here is an update of the larger scale study that's happening:
http://www.shortstature-forum.com/Research/Research-Update-4-ESPE-2011.html?print=1&tmpl=component
I will submit my final assignment for the summer on Monday and will then do nothing else (hahaha) until mid Sep than organize all my articles, thoughts about GH treatment.
http://www.shortstature-forum.com/Research/Research-Update-4-ESPE-2011.html?print=1&tmpl=component
I will submit my final assignment for the summer on Monday and will then do nothing else (hahaha) until mid Sep than organize all my articles, thoughts about GH treatment.
Wednesday, June 20, 2012
HGH treatment for hypochondroplasia - watch this place!!!!
It took me a lot of time to address my silent readers and I am so glad I did. One of them, we will call her B. has written to me and shared with me a study that I wasn't aware of before. It is fairly new, it was published in the Journal of Pediatrics last October. And I am too excited not to share it straight away.
The abstract is here: http://www.ncbi.nlm.nih.gov/pubmed/22137367
For 4 USD you can read the whole article on Deepdyve...
It is a small study, involved 6 children, BUT:
- it is specific to one of the most common mutations of HCH: the N540K mutation, (c.1620C>A)
- It is the longest study to my knowledge, it published 7 years into it
- will go on to monitor adult height until 2020
If you do take the time to read the whole study, I strongly recommend that you look at the references as well and look them up as it is pretty exhaustive. Pay special attention to the Katsumata study...
Perhaps even more importantly, B's daughter has started treatment with one of the author's of the study and we are discussing what the best way would be to get their experiences shared, stay tuned... - No pressure, B... :-)))
The abstract is here: http://www.ncbi.nlm.nih.gov/pubmed/22137367
For 4 USD you can read the whole article on Deepdyve...
It is a small study, involved 6 children, BUT:
- it is specific to one of the most common mutations of HCH: the N540K mutation, (c.1620C>A)
- It is the longest study to my knowledge, it published 7 years into it
- will go on to monitor adult height until 2020
If you do take the time to read the whole study, I strongly recommend that you look at the references as well and look them up as it is pretty exhaustive. Pay special attention to the Katsumata study...
Perhaps even more importantly, B's daughter has started treatment with one of the author's of the study and we are discussing what the best way would be to get their experiences shared, stay tuned... - No pressure, B... :-)))
Tuesday, March 20, 2012
Growth hormone...
I have started writing lots of different posts, but my mind is really not on them... I am thinking about meeting with a pediatric endocrinologist. Our pediatrician asks me every time if I would like to. I have been putting it off, but it's time I think.
I have tried to review all the different conflicting studies that are out there... Here are the conclusions I can draw:
- HGH seems to be more effective for children with HCH than ACH
- The typical outcome is like this: first year significant growth velocity change, second and third year still significant change, and then it seems to tail off... Or they haven't really done longer term studies.
- It could make the disproportion worse, eg. elongate torso as opposed to legs.
- According to one study if started around the age of 2 it is a lot more effective than if started later...
What do I think: I am scared to death about the whole thing:
- The whole daily administration, the needles, the mixing of the thing, the dosing.
- The whole discussion with the kids about the daily injections, I don't want anyone to think that Fi is sick, she has a medical condition, but not sick
- The whole side effect, cancer, increased intracranial pressure... etc... thing...
- I watched the easypod video and that makes me feel even sicker than the thought of the needles... this is why I didn't become a doctor...
Why would I still consider giving it a go...: well because I am quite certain that Fi's torso is also shorter not just her legs, so this could help with her adult height. It could also help her keep up with her peers before ELL becomes an option... Also it would be easily available in Ireland in terms of funding.
I think I will ask for a referral, it should take about 4 months to get an appointment, that will give me even more time to read and think and then the endo will properly measure Fi and we can have a chat, there is no harm in that, is there...
I have tried to review all the different conflicting studies that are out there... Here are the conclusions I can draw:
- HGH seems to be more effective for children with HCH than ACH
- The typical outcome is like this: first year significant growth velocity change, second and third year still significant change, and then it seems to tail off... Or they haven't really done longer term studies.
- It could make the disproportion worse, eg. elongate torso as opposed to legs.
- According to one study if started around the age of 2 it is a lot more effective than if started later...
What do I think: I am scared to death about the whole thing:
- The whole daily administration, the needles, the mixing of the thing, the dosing.
- The whole discussion with the kids about the daily injections, I don't want anyone to think that Fi is sick, she has a medical condition, but not sick
- The whole side effect, cancer, increased intracranial pressure... etc... thing...
- I watched the easypod video and that makes me feel even sicker than the thought of the needles... this is why I didn't become a doctor...
Why would I still consider giving it a go...: well because I am quite certain that Fi's torso is also shorter not just her legs, so this could help with her adult height. It could also help her keep up with her peers before ELL becomes an option... Also it would be easily available in Ireland in terms of funding.
I think I will ask for a referral, it should take about 4 months to get an appointment, that will give me even more time to read and think and then the endo will properly measure Fi and we can have a chat, there is no harm in that, is there...
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