Karyotype: dup & inv 3p25.1-3p26.3; del 3p (26.3pter)
DOB: May 2002
Joseph was born in 2002. (Photo 1 from July 2006; & Photo 2 from May 2012)
The birth was difficult but he was a joyful little bundle.
He was delayed in meeting all his milestones according to everything I read and there were some concerns when his weight gain started dropping off and he wasn’t growing much in height.
I was a Le Leche League member and did co-sleeping and nursing on demand and extended nursing, so even though there were concerns about him not taking to solids, I just continued to nurse and nurse and nurse and nurse and nurse him. We were a TV-less family, so most interaction was one-on-one outdoors and indoors.
He seemed to have this unconscious “breath-holding” condition, where if he got really upset, he would open his mouth crying, but no sound would come out, and he would start to turn blue and pass out, resulting in a petite mal-seizure a couple times. His throat muscles would relax then and he would breathe.
One pediatrician noticed he was floppy at 5 weeks, and wanted to send him to swallowing therapy around 8-9 months, and there was concern about him not walking at the regular developmental timeframe.
He walked at 19 months.
At 2 years of age, we decided to take him for genetic testing. Whereas most of the pediatricians he had been to seemed to think he was fine, just slower in his development, the geneticist immediately recognized some features before they even drew blood.
Those features were/are: loose skin, short stature, far-spaced eyes, spaces between his teeth/small teeth, square face, big cheeks, small nose, and downward-curved corners of his mouth.
Everything that made him extra cute!!!
Because I had nursed him as long as I had, and he was past two years, and finally taking to solid foods, neither gastro-intestinal tube nor feeding tube was needed.
When we got the diagnosis of what I call a Chromosome Difference ( de novo, duplication 3p 25.1-26.3 and inversion, resulting in trisomy–three genes—and deletion at 3p 26.3 to the end, resulting in unisomy—one gene each in this area), we set him up to receive insurance-paid for, conventional therapies involving PT, OT, and Speech therapy. An echo-cardiogram, and cancer-defense gene omission test revealed “normalcy” for concerns in those areas.
ER visits for croup, hospitalizations for pneumonia, and croup, and surgery for a diaphragmatic hernia have been his main medical issues. He is allergic to hay and cats, and some grasses, and we stay away from wheat and dairy. We’ve ruled out any obstruction in his throat by having a bronchoscopy, and we give a small dose of dexamethasone/steroid if we suspect croup, rather than him ending up in ER.
His greatest difficulty seems/seemed to be his speech apraxia. We did a little bit of curative eurhythmy (a movement therapy to help speech) which seemed helpful, but mostly we practice repetition and pronunciation of words.
We just got the WISC I.Q. test results from public school (October 2012) and he is considered around the 0.1 percentile compared to other children his age. The psychologist said the phrase “developmental delays” sometimes give parents false hopes, as Joseph seems to be “cognitively impaired”. I am interested in other types of testing other than the standard I.Q. because I feel he has strengths in other areas not measured.
He seems to be progressing, always to me, but I am still watching year by year to see how much he will progress. He seems developmentally delayed by about 2-4 years. He is very social. He is very disinterested in academics, and academics are very difficult for him. He can write the alphabet letters pretty well and is pretty good at making the sound of the letter, and is working on sight reading. Math is very difficult for him and add-on/count-on counting is still beyond his ability. He is self-correcting more and more to say “I like _____,” rather than “Me like _____.” He has begun Leveled Literacy Intervention at school. I have him “retained” by two years in public school. His gross motor skills are good and his fine motor skills are acceptable. He’s not able to swing from arm to arm on monkey-bars over head as many children do.
I believe environment has a big impact on development and I am not happy with the authoritarian reward/point/punishment (authority allocated consequence) system used in most public schools, nor the over-all environment or methods or pedagogical views in public school, yet that is where he/we are at this time. I like that the public school lets him bring a Matchbox car to school and play with it during recess with another child who is part of the Intensive Learning Center at his school.
Looking at child development and education from a Waldorf pedagogical view, in many ways, and especially wanting that sort of community and environment for my son, and myself, has probably been the most difficult part of accepting what is as is. Yet, I am open to the idea that technology (computers and such) may actually be a beneficial thing for my son (Waldorf views do not encourage media until children are much older, for good reason, yet…). I am always weighing out the pros of public school versus the cons.
With special needs children, and all children, really, I think a combination of conventional-mainstream views and alternative, more holistic views of child-development and intervention are important. Keeping in mind Joseph’s developmental age versus his chronological age is helpful in parentning.
Thank you for reading.