I have a 11 week old little girl, who at birth was diagnosed with Chromosome 4q deletion syndrome. She has had MRI's, ultrasounds and ct's done which showed excess fluid in/around her brain. She was also diagnosed with Diffuse Brain Atrophy (which they say will lead to developmental delays), Persistent Fetal Vascular Syndrome (blindness), Atrial Septal Defect, Peripheral pulmonic stenosis (both involve her heart ASD is a hole and PPS is a murmur), microcephaly and failure to thrive. I was just wondering if anyone else's child/ren have any of these other issues or if they had any issues at all as they have grown up. The doctors are all saying everything is unknown. Any help would be greatly appreciated.

Our child is 7 months old and has a 4q deletion as well. Unfortunately, I feel very much the same. It seems like there are always many unanswered questions because every case is so different. Our genetics clinic basically referred us to the Unique website. I think every day will be a learning process from here on out.

There are tons of variations in 4q. Have you seen UNIQUE's resources and the files in the 4q deletion group on Yahoo groups? Most 4q-ties have issues with growth early on, because they're lousy at eating. Delayed myelenization in some kids means a lot of things that are a problem in the first six months get easier, later. Most kids with 4q deletions have learning delays. Language acquisition is a huge problem, although for my little one, once we got her on supplements (CoQ10 and R-lipoic acid especially), her language went from virtually nonexistent to present, but very delayed. DO make sure they check her for metabolic issues, and I mean *in depth* for metabolic issues. There are a lot of places on 4q that code for mitochondrial resources, and some of that is treatable. The earlier you treat, the better for language. What is your kiddo's exact deletion? Because that matters.

I recently found out that I also have the same deletion as my daughter. Since I have it and I am normal they don't believe her deletion has anything to do with the rest of her issues. Her deletion is 4q 21.1.21. I have asked them CoQ10 and other meds but the neurologist don't believe that they will help, so they have put her on Neurontin to help her have a more normal way of living, altho it isn't helping. I have asked her primary about metabolic issues and they don't believe that she has them just from looking. They wont and dont want to run any more tests on her until she is 6 months (which is 2.5 months away). I haven't heard of the Unique website but I will check it out. Thanks for the advice.

4q21 is EXACTLY where the CoQ2 gene is located. Shiny's issues are 4q21.1-21.3 CoQ10 is one of those "can't hurt, might help" things. It may not help her physical defects, but it may well help her development and certainly her growth. Shiny put on 3 pounds in 3 weeks when we started her on CoQ10. You need a form that does NOT have citrates or citric acid in it, as some of the kids have issues with citric acid. Especially if she's on formula, extra citric acid may be problematic. With a baby that age, poking a hole in a softgel and putting the paste in her cheek might work. If she's little, she won't need much, 50 mg, 30 even. I taste tested all of them before giving them to Shiny. Most of the softgel types taste mild, like weak tea, but some of them are very stinging and taste vomity. CoQ10... there are very few, if any side effects to supplementation, and the amount you have to eat in order to get to toxic levels is closer to pounds. I don't even know if there is an official "toxic" level, it's that innocuous. Shiny's bloodwork and skin biopsy showed "normal" levels of CoQ10, however, they suspect that her muscles or nerve tissues may have a specific deficiency (which we're not willing to biopsy for) because her response is so clear. If she goes off of CoQ10 for longer than a couple days, she loses language and goes lethargic. She responded to treatment within *days*. When we switched to a form with better absorption, she went from using a few words and able to remember more vocabulary to actually singing. We got some results from the CoQ10 we bought from costco, Trunature brand maybe? Our best results have been from Vitaline's Smart Q10 chewables. I did a lot of reading about CoQ10, and put Shiny on with the blessings of researchers into CoQ10 deficiency (they thought she should be on a much higher dose than she ended up needing. At 40 pounds, she's getting 200 mg per day... by their math she would have been on 400 mg per day. But they look at people who are missing two genes for CoQ2, Shiny is only missing one.)

Update: Arika is now 6 months old. She got a Mic-Key button the day before Thanksgiving 2010 and also had the Nessen fundoplication surgery the same day. She is on continuous feeds at the moment. She has since had two eye surgeries (one on each eye). They found cataracts and glaucoma in both eyes, so they removed the lens and jelly in each eye. She also has been diagnosed with Viscular Hyperalgesia, which basically means she has a very high sensitivity to anything and everything that passes in or around or even the outside of her stomach. They also have come up with a name for her deletion called Shroom 3. She has been put on an apnea machine 24/7 and has had frequent episodes. We also have a suction machine bc her secretions has become dangerous to her breathing, which is now monitored 24/7 by the o2 machine and on oxygen most of the day. We think her hearing is also gone, but her actual test isn't for another week. We have been in the hospital many times and even have our usual room and nurses now. Neuro has also put in for a plastic surgery consult bc her head isn't growing correctly, what very little bit it has grown. Hopefully things will start turning for the better one of these days. We are still waiting on a night nurse so maybe one of these weeks I can get some sleep. We also got approved for ADA housing, I just home we don't PCS (Change of station) before we can move in. Any other updates on anybody else's kid?