Good Afternoon! my daughter was also diagnosed with 4q21 deletion syndrome in December 2017. i would love to communicate with you as i have never met anyone with this condition as it is so rare! when she was diagnosed we were told she made #10 in the world to have been diagnosed with such a rare disorder! i would love to compare stories. you can contact me personally as well at bbjpguilbeault.15@gmail.com
I am also very sorry of the passing your son.
I hope you reach out to me as i would like to get more education and resources if you have any and whatever i have to share i will do the same!
Thank you and take care!
Kayla (Rhode Island)
Hello!
I have only been on Global Genes and Unique organizations and their web sites. I'm not sure how I missed Rare Share?!
Anyway- my child is 3+ and was born with 4q21.22 micro deletion. We were told only about 48 cases worldwide! :( Deletion was in du nouvo as both of us parents were tested.
I still hope that there is some medical breakthrough but at this point, I only focus on 'what's next!" We've had him in weekly PT/OT since he was 2 months old, according to the other families I've found on FB, this showed drastic improvement vs their own children.
What's your go-to strategy?
Thanks- Halina (MN)
Hi,
My son is 6.5 years old and has 4q 21.21.21.22 deletion, he looks quite similar to your son I think! are you on the facebook 4q deletion group? thats is where I meet many other parents and the 4q21 kids seem to have very simialr issues and I think look quite simialr!
My daughter, Shiny, has a 4q 21.1-21.3 deletion. We use a lot of supplements with her, and you should look into possibly doing them for your child. I worked up a dosing calculator based on what worked for her at given weights. For an infant, powdered CoQ10 from Epic4health and liquid R-lipoic acid would be extremely important. The amounts would be small, but the potential for help is great, because it can help with energy, coordination, muscle function, etc. https://jenrose.com/shinys-meds/ is the calculator, you can enter weight in pounds to get suggested amounts. With every supplement, I had the following procedure:
1. Research: Is there a risk to giving the supplement? What's the logic behind it? So for example, CoQ10, the rationale is that many kids with deletions on 4q21 have an absent COQ2 gene which can affect CoQ10 production. Sometimes merely having a nearby break can be enough to cause problems, there's also a 4q34 gene involving CoQ10 production. CoQ10 is quite safe, not toxic, with few side effects. We found that the dose was important, too high didn't help any better than just right, too low and symptoms which disappeared at the right dose would come back. If she grew, we would see symptoms come back until we raised the dose appropriately. Another example. R-lipoic acid can cause hyperactivity in some children or at too-high doses, but in the very low doses our kids need, it's very protective and helpful and not toxic. We started with very low doses, and worked up to the recommended dosing on the bottle. Even very low doses had profound benefits, but quality was key. High quality supplements work better and have less side effects. I ONLY recommend Geronova Ka-Rala 10, which is liquid and extremely well absorbed. We saw language increases at 1/5 her eventual dose, within minutes.
2. Trial: Give the supplement. Observe changes. IF no changes, continue for set period of time (1-4 weeks depending on how quickly one would expect to see results. CoQ10 can give results in a few days to a month, if no benefit at that point, check if your brand is recommended.) If side effects (behaviors, mood alterations, etc.) stop the trial or reduce the dose.
3. Withdraw. If the supplement appears to have been beneficial, after 2-3 months on the supplement, withdraw it temporarily. OBSERVE. CoQ10 takes a few days to wear out of the system (but some effects can be seen pretty quickly), you might observe less talking or less energy or a more disordered eating pattern or sleeping pattern.
4. Put the child back on the supplement. See if it helps again. If so, keep them on it.
Not every supplement helps every child. There may be other supplements that may help that didn't work for us and are not on the list. Talking to a metabolics specialist may be helpful (or not). Doctors are often loathe to recommend supplements or treatments which don't have large studies behind them. There aren't enough of our kids for large studies. I only tested and trialed low risk, high potential benefit supplements. Her current regimen includes CoQ10, R-lipoic acid, b-vitamins, magnesium, ascorbic acid (we avoid citrates, so she needs a C supplement. Her issue is with citric acid, not other acids.) Also sunflower lecithin (helps neurotransmitter production and mood), Vitamin D because we live in Oregon, and at bedtime, melatonin. Once she hit puberty we added skullcap and valerian at bedtime for sleep because she wasn't sleeping. Like at all.
Good afternoon my name is Tatyana, my son has a deletion of chromosome 4, please help me get into the Facebook group. I sent a request, but was not added to the group. Thank you in advance!
My profile https://www.facebook.com/profile.php?id=100088982920255