RM was born with 4q Deletion Syndrome (4q32.2-terminal), resulting in multiple disabilities. She is a FIGHTER. (Her Dadda & Mama are, too!)
4q Deletion is a missing portion of the long-arm of the 4th chromosome. Humans have 23 pairs of chromosomes that make up their DNA. RM has one normal Chromosome 4, the other of the pair is missing about one-third of the longer section called “q”.
A wonderful organization called Unique – The Rare Chromosome Disorder Support Group has an extensive database and educational materials.
4q Deletion is similar to autism spectrum disorder – if you have met one person with 4q, you have met one person with 4q. Though there are similarities, every individual with a 4q deletion is unique and not all experience the same challenges or to the same degree.
At nine days old, we received RM’s diagnosis of 4q, but we were already aware of her heart defects. She had a very large Atrial Septal Defect (ASD), a Ventricular Septal Defect (VSD), and Patent Ductus Arteriosis (PDA).
RM’s first year was the toughest. Upon receiving her diagnosis of 4q in the geneticist’s office at 9 days old, we made the decision to immediately admit her to the children’s hospital. There was no question at this point that she was going to need intensive care to get her through this critical time.
A nasogastric feeding tube was inserted upon arrival. Born at 6 pounds, 8 ounces, she had lost more than a full pound since birth and tired quickly when feeding. Her heart was overwhelmed trying to keep up with supporting her while missing nearly the entire wall between the two upper chambers. Feeding was mechanically challenging, as her recessed chin and tiny mouth made it nearly impossible for her weak oral muscles to successfully suck and swallow – a rhythmic dance of a thousand little movements she just couldn’t coordinate.
At about three weeks old, we made the move to a g-tube. It was a quick surgery and went smoothly. It was one of the best decisions we had made. RM had severe Gastroesophageal Reflux Disease (GERD) so not only had she not been getting enough nutrition to begin with, she had been vomiting nearly constantly since she was born.
With the g-tube, RM began to gain weight slowly but steadily. She was on medication for the GERD – Reglan and Zantac at first. Most of her feeds were being given through the tube. It was amazing that she gained any weight at all considering the volume that was exiting when she threw up seemed far more than was going in.
At around 3 months old, she was in congestive heart failure and put on cardiac meds to reduce the amount of fluid around her heart. She was put on the schedule for surgery to repair the ASD and PDA.
Open-heart surgery at 4 months old was a great success. The ASD was repaired with a Gore-Tex patch and the PDA was clipped. Her recovery was miraculous – she was home on the fifth day following surgery and there were no complications. Her VSD was left in hopes it would eventually close on its own.*
Over the next several months, RM continued to gain weight. The GERD was still challenging and though her newly strengthened heart was now sufficient to support her efforts to feed, her oral motor coordination was still quite compromised.
Because of all of the time spent lying on her back, RM had severe plagiocephaly (flattened-head) and we chose to do a cranial orthotic helmet. With her growing so well at this point post-heart-surgery, she only needed to be in the helmet for three months. It was pretty darn cute, too.
Developmentally, she was slowly catching up. She sat up at 8 months, crawled soon after and officially walked at 16 months. Her gross motor and fine motor were severely impaired but RM was a hard worker and determined to keep up the steady progress.
We used Signing Time videos to teach sign language to RM from the beginning. She loved them, loved the music and was a natural with sign. She spoke her first word at 18 months – an approximation of ‘flower’.
Around two years old, she began to eat small amounts of solid food and the GERD was improving slightly. She was beginning to run awkwardly and laugh. Through it all, she has always been a very happy child.
As speech was slow to come and we began to question her hearing, we had her tested and followed up with an ENT who recommended ear tubes. At 23 months, RM had tubes put in and her adenoids and tonsils removed. She had suffered several bouts of strep throat and the ENT confirmed after surgery that her tonsils were “shredded” and she was now clear of “glue ear” (when the ears have been filled with fluid for so long, the fluid becomes the consistency of glue and hearing is affected). The adenoid removal was to help give her more room for breathing and feeding. She also had her third endoscopy while under anesthesia – we tried as often as possible to coordinate as many procedures simultaneously as we could.
Around 30 months old, RM landed in the hospital once more with a severe case of Rotavirus that nearly took her from us. It was one of the most terrifying times with her. She had constant diarrhea for nearly a month. Her hair had fallen out and the vomiting was wearing out her little body. She had lost seven of her barely 31 pounds. After all of the hard work to get her this far, it felt like this was going to be the time God took her home. One morning during rounds, an older doctor happened by and stopped to listen in on RM’s case. He heard the part about her hair falling out and simply interjected, “Zinc. That’s what they give the cancer patients.” We never did find out who that doctor was. But after less than 24 hours of RM receiving zinc, she was out of the woods and on her way to coming home. She would continue on the zinc supplement and in the next three weeks would gain back three pounds and GROW an inch and a half. This was our major turning point with RM. For her, zinc was an amazing remedy that gave her appetite, a taste for new foods and would ultimately end the need for her feeding tube. (I researched zinc to find that it is considered a valid treatment for anorexia as an appetite stimulant and that some studies had shown it was helpful in the treatment of failure to thrive in infants.)
Born with optic nerve hypoplasia, RM’s eyesight was of major concern. Every six months from birth she was seen by a pediatric ophthalmologist. By the age of three, her doctor was quite confident that though her optic nerves were ‘small’, there appeared to be no loss of vision.
It was around RM’s third birthday that we began to notice signs of autism. We had just settled into a groove and her medical health had finally seemed to plateau. We chose to wait it out for a while and see if her behaviors would improve. It was difficult to determine if the signs pointing toward autism were a result of developmental delay related to her medical traumas and setbacks, or truly something more. We were aware that autism was a possibility based strictly on RM’s genetic syndrome, so we cautiously took note but secretly hoped that it was just a matter of ‘catching up’.
In the meantime at 38 months, RM had minor vaginal adhesions removed by a urologist while also having a routine endoscopy that year. The adhesions were not an issue at the time, but we were advised that they could eventually block urine flow if they were not removed. The urologist also did a hysteroscopy to rule out any genital abnormalities sometimes present in genetic syndromes. RM is genetically and anatomically all girl.
After a lack of progression in special education preschool and continued ‘stimming’ behaviors, RM was diagnosed with PDD-NOS/Autism Spectrum Disorder in February of 2010 at the age of 42 months. It was more of a shock than it probably should have been, but I do honestly believe it was a blessing.
It was only a month or so later that RM had her first noticeable ‘absence seizure‘. We were in the ER for a stomach virus and thankfully the nurse witnessed the event so that I was sure of what I saw. She had no fever, just some diarrhea and had vomited a couple of times. The only reason I had even made the trek to the hospital was because after a few days of the bug I was becoming concerned that she was getting dehydrated. An Electroencephalography (EEG) done a month later would show normal activity. But SGM and I witnessed one other brief absence seizure at the dinner table a year later. None since, so we are hoping they were isolated incidences and continue to follow up with neurology four times a year.
After 14 months of fighting our school district, RM was placed April of 2011 in an outplacement autism program and so far it has been incredible.
Her feeding tube was removed at 46 months old. Though she continues taking Prevacid for severe GERD and has yearly endoscopies to monitor her eosinophilic esophagitis (EE), she is healthy. We will be starting an elimination diet in the future to determine the allergic cause of her ‘EE’.
RM also had a second set of ear tubes placed recently at 58 months, again, during her annual endoscopy.
In November of 2011, at a yearly eye appointment, RM was prescribed glasses for slight farsightedness. We agreed to glasses because her autism program does involve a large amount of desk time up close. It took several months to get her to wear them with some consistency, but she’s pretty darn beautiful in them:
*[At six years old, her VSD has closed from 4mm to 2mm. Her latest cardiology visit suggests possibly an outpatient procedure next year to glue the hole in her heart shut. Yes, glue.]
RM’s 4q complex medical/developmental history:
Failure to thrive; micrognatha; low-set cupped ears; absent primary teeth; absent fifth digit interphalangeal joint with hooked nail; bilateral overlapping fourth and fifth toes; optic nerve hypoplasia; hypotonia; kyphosis; feeding tube from 9 days old; ASD and PDA repair at 4 months old; Severe GERD; cranial orthotic helmet at 9 months old to treat positional plagiocephaly; myringotomy tubes/ adenoidectomy/ tonsillectomy at 23 mos. with 2nd set of tubes at 58 months; vaginal adhesions; eosinophilic esophagitis; developmental dispraxia; apraxia of speech; sensory integration disorder; absence seizures; PDD-NOS/Autism Spectrum Disorder at 42 months; and eyeglasses for slight farsightedness at five years old.
[Editor's note: Related links within this page are intended for informational purposes only, to be a starting point for learning definitions, etc., NOT intended as medical advice, diagnosis, or treatment, nor an endorsement of any kind. Be informed. Pursue further information with your child's pediatrician.]
The Bloggess
July 23rd, 2011 at 4:51 pm
Thank you so much for sharing all of this personal information with the world. I know that reading this story will bring solace to so many who are walking a similar path. I know that I will be sharing your story with someone I know who is beating similar odds. Thank you. :)
July 23rd, 2011 at 10:58 pm
lila has a very small deletion in her 2d 3d chromosome. the genetic councilor thought it was weird and had no idea what the outcome of that is. we have to get bubba tested to see if he has it too.
July 24th, 2011 at 6:50 pm
Keep me posted if you have the testing – that would be interesting to find out the results.
xo
July 23rd, 2011 at 10:59 pm
also, have you looked into the acid reflux surgery for RM? my dad had it, and he hasn’t had it since.
July 24th, 2011 at 6:49 pm
Thanks, Jennie – we declined a fundoplication from the beginning. It wouldn’t really have addressed RM’s issues entirely, so we chose not to go that route. I am so glad to hear it worked for your Dad!
July 24th, 2011 at 11:31 am
I remember when she looked like that baby picture!
My favorite RM story is after her ENT surgery when they said she had to stay in the hospital until she was back to herself enough to drink, and you said “why, she has a G tube?” and went home right away.
July 24th, 2011 at 6:41 pm
Dr. Jeff – this made my day. I hope you realize what a difference you made for the SGM and I those first few weeks. It was the difference between terror and hope. It was a great gift to RM and to us as a family.
Thank you.
July 24th, 2011 at 8:49 pm
Thanks for the kind words.
She’s lucky to have been born into such a wonderful family.
September 1st, 2011 at 8:35 am
Thank you for sharing your story! I’ve learned a lot and I am glad that RM is now healthy. She is so cute!!
September 1st, 2011 at 9:24 am
Your patience, persistence, and love for your daughter is truly astounding. Thank you for sharing this experience. It is not only an inspiration but an incredible resource for others looking to learn more about the 4q deletion sydrome.
September 1st, 2011 at 10:09 am
Hi,
I am medical student at Tufts. Our professor told us that you generously allowed her to use your child’s picture for a practice case study.
Thank you so much for sharing and giving us the opportunity to learn more about 4q deletion syndrome.
Best,
Mina
September 14th, 2011 at 3:21 pm
Thank you so much for sharing your inspirational story!
September 17th, 2011 at 8:16 pm
Hello,
i’m a student at tufts medical school. as part of our course study we completed a simulated case of which our professor told us that you had selflessly allowed her to use your baby’s picture.
thanks you for sharing a part of your family and giving us the opportunity to put a face to the 4q deletion syndrome we’ve learned about.
i wish you all the best and many blessings on your family.
regard,
lori
September 18th, 2011 at 11:05 am
Thank you for sharing your family’s journey. Your daughter is beautiful
September 19th, 2011 at 8:34 pm
I would like to thank the community at Tufts for taking the time to learn about my amazing daughter. Your thoughtful comments are much appreciated.
For those of you pursuing a profession in medicine – bless you – your work will be demanding, tiring, at times disheartening. Keep the faith! Please remember our story and remember that compassionate care is the standard not just a goal. Do your best. BE your best. Care for each patient as if they were family and you can always be proud.
Best of luck to you!
September 20th, 2011 at 10:29 pm
Thank you very much for sharing the story of your daughter and your family!
September 21st, 2011 at 8:52 pm
Thank you for generously sharing RM’s story with we Tufts med students. Your story puts a (beautiful!) face to learning about human genetics and genetic medicine. All the best to you and your lovely family. Thank you.
September 23rd, 2011 at 8:30 pm
Thank you so much for sharing RM’s and your family’s story with us. It adds so much value to what we are learning in the classroom. You are inspirational.
September 24th, 2011 at 3:42 am
Thank you so much for sharing your story. At times it is easy to forget that there are real faces and stories behind the conditions we learn about in class. I wish you and your family the best of whatever lies ahead. Thank you.
September 24th, 2011 at 3:54 pm
Thank you for letting us, here at Tufts School of Medicine, put a face on a story. It makes such an impact on our learning. I appreciate your openness and wish you and your family a wonderful future!
April 5th, 2012 at 10:42 pm
You and your family are amazing individuals! Thank you for sharing your journey with the world. I don’t know you personally,but you are an inspiration to the world. I wish the best for you all. I am going to share your site with my friend Jill Bryant Mitchell, who also has a child with Autism.
Thanks
Katina
April 15th, 2012 at 8:53 pm
Hello,
I also am a parent to a child with 4q syndrome. My child has a lot of the same issues as yours hypoplastic pinky with hooked nail that wraps around, EE, GERD, g tube, autism, hypotonia, sensory integration disorder , multiple food allergies and more. This has been such a journey I am sure you know. Amazingly our little ones are such troopers and always happy!
Thanks for sharing,
TJ
September 14th, 2012 at 10:09 pm
Thank you for graciously sharing this information.
September 16th, 2012 at 7:48 pm
I just wanted to thank you for sharing your story with us. As part of the Tufts School of Medicine, your daughter’s journey has helped us on our educational journey. She’s a beautiful little girl, and I will certainly remember her story. Again, thank you and best wishes to your wonderful family.
September 17th, 2012 at 4:08 pm
Thank you so much for sharing your story. Your openness and strength has helped teach us all here at Tufts School of Medicine.
September 19th, 2012 at 6:57 pm
Thank you so much for sharing everything your family has been through. Very happy to hear RM is healthy and wish you all the very best!
September 19th, 2012 at 6:58 pm
I was really interested to read about your journey. My ds is 7-1/2 and we just received our diagnosis of 4q Deletion Syndrome today. I am so grateful to finally have a dagnosis and interested to read about the different ways is which it manifests. If you could pm me, I’d appreciate being able to talk to another parent.
September 20th, 2012 at 9:50 pm
Stories like these inspire courage and adoration. Thank you for sharing such an intimate and difficult journey with us. I wish the very best for RM and the rest of the family.
September 26th, 2012 at 9:06 pm
Another big Thanks from Tufts School of Medicine. Your family’s story has put a reality to our learning that will be unforgettable and invaluable for us as future health care providers. I wish RM and your family the best.
September 26th, 2012 at 10:11 pm
Thank you for sharing your story to the students at Tufts School of Medicine. A real life example is priceless as it helped me understand the material more clearly. Best wishes to RM and your family.
September 28th, 2012 at 12:08 pm
Once again, as this new semester begins, I would like to thank the community at Tufts for taking the time to learn about my amazing daughter. Your thoughtful comments are much appreciated.
For those of you pursuing a profession in medicine – bless you – your work will be demanding, tiring, at times disheartening. Keep the faith!
Please remember our story and remember that compassionate care is the standard not just a goal. Do your best. BE your best. Care for each patient as if they were family and you can always be proud.
Best of luck to you!
Rachel
January 25th, 2013 at 2:49 pm
Thank you so much for sharing your story!
I have a 16 month old with many little issues and currently no answers. Recently, her genome testing came back with a deletion of 4q13.2. The report as well as our geneticist here and neurologist, said this may be of no concern. I am a little confused with information on 4q deletion syndrome. Does one have to be missing a single portion, as in my daughter’s case? Or do they have to be missing several? I wanted to ask before I bother the geneticist with yet another of my theories. We have a 2 yr old with mitochondrial disease and nothing he presents with is typical.
January 29th, 2013 at 8:47 am
April, (first off, I am sorry I hadn’t been online for a few days, so just seeing this), that is the enigma of genetics… RM is missing a large portion of 4q – from 32.2 to the end. And though she has had many medical and developmental challenges, I feel hers are not as severe as others I have seen with small deletions or duplications. The understanding I have is that because we’re talking a change to one chromosome of a pair, there is just no way of knowing when or why these changes may or may not affect a process in the body. Being mindful that the other of the pair is in tact.
I do recommend keeping a journal of these kinds of questions and more so that when you have one of those hard-to-get appointments with the geneticist, you have a list ready to go and can fire off all of your questions and take notes on the answers.
The most wonderful thing the geneticist said to us at our first appointment when RM was nine days old was this: “Your daughter is exactly who she was meant to be.” Meaning, love her, enjoy her, help her in any way you can, but don’t grieve something so perfectly meant to be your baby.
My best to you and please email me if you have any other questions. Also, there is a facebook group called “Distal 4q Deletions” if you’d like to join the community there. :0)
April 26th, 2013 at 1:29 pm
I have 4q deletion. I find having an Anti Inflammatory Diet helps alot.
April 26th, 2013 at 2:27 pm
Thanks for sharing, Lisa!