About Rachel Margaret

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RM was born with 4q Deletion Syndrome (4q32.2-terminal), resulting in multiple disabilities. She is a FIGHTER.

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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.

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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.

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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.)

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Born with optic nerve hypoplasia (ONH), 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’.

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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).

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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:

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In Spring 2013, we upgraded to a richer prescription for farsightedness (+3.00 in each eye) and a referral to Endocrinology for some testing.  Because RM was born with ONH, her Ophthalmologist wanted her Pituitary tested because of the close relationship between the two.

At Endocrinology in August 2013, she was tested for levels of various Pituitary hormones, specifically Cortisol, as she was due for surgery the following week.  Cortisol is important in regulating blood pressure, and in stressful situations (like a major surgery) a low level of cortisol can be fatal.  Angels were watching over RM as the Endocrinologist alerted the surgical team only hours prior that she would need protective doses of hydrocortisone during the surgery.  RM underwent an ACTH Stimulation Test to determine whether her cortisol deficiency is due to a Pituitary or Adrenal issue and the results came back normal.  We will be following up regularly with Endo for future additional testing.

August 16, 2013, RM underwent a Sphincter Pharyngoplasty to repair her velopharyngeal insufficiency.  In really less ridiculous language, she had surgery to create a flap in the back of her throat so that when she talks, she is able to completely close off the air that was escaping through her nose.  So now it is much easier for her to speak, it takes much less effort because she doesn’t run out of breath so quickly and she is learning that it is also much easier to make consonant sounds, too.  She will continue with her speech therapy, but this was life-changing, friends. LIFE. CHANGING.

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During the Pharyngoplasty, she also had a third set of ear tubes placed. Both tubes fell out on their own during the winter of 2013 and at the time, we agreed with ENT not to pursue an immediate replacement.

Summer 2014, RM was given a hearing test and found to have moderate hearing loss in both ears. So, she is set to have new tubes placed this August and another subsequent hearing evaluation to see if the hearing loss is mitigated.

RM had a craniofacial surgical consult for otoplasty (ear pinning) in June. Her ears protrude 32mm and 33mm. “Normal” ear protrusion is around 8mm to 12mm. She is currently on the surgical schedule for November, but of course, TRICARE has denied coverage and I will be appealing. For RM, this is not a cosmetic procedure. She has low-set cupped ears which means that her eyeglasses weigh almost entirely on a very small area above each ear – rather than any weight being born by the bridge of her nose. This results in sores at the tops of where her ears meet her skull.  Also, the protrusion is so considerable that there simply is no way that consideration can be overlooked in the realm of psychological benefit.

Also in June 2014, RM was released from her pediatric dentist and is now a patient of a surgical/clinical practice that has privileges at her children’s hospital. Knowing that RM has dental anomalies like many chromosome kids, it was time to begin crafting a comprehensive dental plan going forward, including surgeries and the ability for anesthesia during dental procedures that are simply not possible for autistics to endure while awake. During this first visit, RM was found to have congenitally soft teeth and multiple cavities below the gum line. While RM has been receiving excellent dental care and regular cleanings, thanks mostly to the desensitization program at her outplacement school, the best of hygiene simply cannot compete with this type of thin or absent enamel. After upcoming xrays, a surgical intervention and orthodontic plan will be put together by an entire team.

In recent months, RM has been complaining of pain in her heels and ankles. She has increased considerably in her toe-walking, which she hasn’t really done with any considerable consistency in years now. I have taken to stretching her out a few times a day while playing and will add a new visit to orthopedics as time allows and once we have been allowed to breathe from all of this new stuff!

*[At seven years old, her VSD had closed from 4mm to 2mm. Her last cardiology visit suggested possibly an outpatient procedure next year to glue the hole in her heart shut. Yes, glue.]

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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 months with 2nd set of ear 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; eyeglasses for farsightedness at five years old; velopharyngeal insufficiency; 3rd set of ear tubes at seven years old; congenital enamel hypoplasia.

[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.]

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