23 hours ago
Saturday, October 25, 2008
Friday, October 24, 2008
Tag I'm It!
10 years ago I....
1. was graduating high school
2. drove a blue 1994 Geo Metro hatchback... oooo so tiny!
3. spent all my money on fun clothes accessories and CD's
4. had been dating my hubby Ian for 2 years
5. was a size 2 and had super long hair
5 things on today's to do list
1. take Akela to her cardiologist appointment for an EKG
2. go grocery shopping, FINALLY!
3. finish sewing Sonya's Halloween costume
4. greet Zoe at the bus stop when she comes home
5. the oh so dreaded ever accumulating laundry pile needs attention!
5 things I would do if I were a millionaire
1. PAY OFF ALL OUR DEBT!
2. buy a hybrid mini van for me and one for hubby -do they make these yet?
3. move out of our cramped 3 small bedroom town home into a single family home with more room
4. take care of my mom's financial situation
5. invest and save for our kid's eduacation and donate to worthy charities
5 places I've lived
1. Doylestown, Bucks County, Pennsylvania, birth place - lived there for my 1st year
2. Dublin, Bucks County, Pennsylvania, hometown - grew up here
3. Quakertown, Bucks County, Pennsylvania - 1st home with my husband and current residence
4. (boring... only lived in three locations... I know...)
5. .........
5 jobs I've had
1. photo technician at CVS pharmacy
2. grocery check out girl at Superfresh
3. waitress at Outback Steakhouse, Olive Garden, Bennigan's, B. Maxwells, Dublin Star Diner, and Applebees (and bartender at Applebee's) Ahhh.. restaurant work...
4. receptionist/secretary at an accountant's office
5. stay at home mommy! hey that is a full time job!
Ok, I'm tagging whoever is left! I think Charmaine and Mandy still have to post?
1. was graduating high school
2. drove a blue 1994 Geo Metro hatchback... oooo so tiny!
3. spent all my money on fun clothes accessories and CD's
4. had been dating my hubby Ian for 2 years
5. was a size 2 and had super long hair
5 things on today's to do list
1. take Akela to her cardiologist appointment for an EKG
2. go grocery shopping, FINALLY!
3. finish sewing Sonya's Halloween costume
4. greet Zoe at the bus stop when she comes home
5. the oh so dreaded ever accumulating laundry pile needs attention!
5 things I would do if I were a millionaire
1. PAY OFF ALL OUR DEBT!
2. buy a hybrid mini van for me and one for hubby -do they make these yet?
3. move out of our cramped 3 small bedroom town home into a single family home with more room
4. take care of my mom's financial situation
5. invest and save for our kid's eduacation and donate to worthy charities
5 places I've lived
1. Doylestown, Bucks County, Pennsylvania, birth place - lived there for my 1st year
2. Dublin, Bucks County, Pennsylvania, hometown - grew up here
3. Quakertown, Bucks County, Pennsylvania - 1st home with my husband and current residence
4. (boring... only lived in three locations... I know...)
5. .........
5 jobs I've had
1. photo technician at CVS pharmacy
2. grocery check out girl at Superfresh
3. waitress at Outback Steakhouse, Olive Garden, Bennigan's, B. Maxwells, Dublin Star Diner, and Applebees (and bartender at Applebee's) Ahhh.. restaurant work...
4. receptionist/secretary at an accountant's office
5. stay at home mommy! hey that is a full time job!
Ok, I'm tagging whoever is left! I think Charmaine and Mandy still have to post?
Wednesday, October 22, 2008
What is Campomelic Dysplasia?
NATURAL HISTORY: CAMPOMELIC DYSPLASIA 4/97
[NOTE:THE FOLLOWING SUMMARY OF THE NATURAL HISTORY OF CAMPOMELIC DYSPLASIA IS NEITHER EXHAUSTIVE NOT CITED. IT IS MEANT TO PROVIDE A GUIDELINE FOR THE KINDS OF PROBLEMS THAT MAY ARISE IN CHILDREN WITH THIS DISORDER, AND PARTICULARLY TO HELP CLINICIANS CARING FOR A RECENTLY DIAGNOSED CHILD. FOR SPECIFIC QUESTIONS OR MORE DETAILED DISCUSSIONS, FEEL FREE TO CONTACT THE MIDWEST REGIONAL BOND DYSPLASIA CLINIC AT THE UNVERSITY OF WISCONSIN – MADISON [ 608-262-9722: FAX – 608-263-3496; EMAIL – PAULI@WAISMAN.WISC.EDU]
MEDICAL ISSUES AND PARENTAL CONCERNS TO BE ANTICIPATED
PROBLEM: SURVIVAL
EXPECTATIONS: Most Infants with this disorder die, apparently secondary to respiratory insufficiency. Various factors contribute to those risks. (SEE BELOW) Many die in the first days of life, some over the course of the first year. Few of those who survive beyond the first year are free of severe sequelae.
MONITORING: Anticipatory guidance and counseling of the family.
INTERVENTION: In depth discussions with the family are essential, including consideration of generation of Advance Directive, copies of which should be placed at all clinics and hospitals where the infant may be cared for.
PROBLEM: RESPIRATORY PROBLEMS
EXPECTATIONS: Many factors contribute to severe respiratory risks. The chest of often markedly constricted. The airways are diminished in size and there may also be severe laryngotracheobronchomalacia. The mandible is often very small and subsequent retroglossia can cause upper airway obstruction. And there may be abnormalities of central respiratory control (central apnea) because of abnormalities of the cranial base. All may contribute to immediate neonatal risk of death and, in survivors, to long term sequelae.
MONITORING: Evaluation in survivors of the neonatal period should include: polysomnography, bronchoscopy in those with apparent sever airway involvement.
INTERVENTION: May include symptomatic management with oxygen supplementation, use of cpap or bipapa, tracheostomy as needed etc. Surgical chest expansion has not been shown to be of any benefit. Airway infections should be aggressively treated. Prophylactic treatment during RSV epidemics should be considered. Immunizations should be given, including Hemophilus and Influenza (using split dose split virus preparations in infant and vaccination of all household contacts.
PROBLEM: ANESTHESIA RISKS
EXPECTATIONS: Many infants may require surgery. Risks include those related to the airway and the cervical sine.
MONITORING: Cervical spine should be assessed for stability with plain lateral xrays. Flexible bronchoscopy should be done prior to intubagtubation.
INTERVENTION: Weaning and extubation need to be carried out cautiously.
PROBLEM: CENTRAL NERVOUS SYSTEM AND DEVELOPMENT
EXPECTATIONS: May have structural anomalies ( most commonly arhinecephaly). With or without structural aberrations survivors may show serious developmental abnormalities, with profound variability from survivor to survivor. It is not clear what contributes to developmental abnormalities (primary vs. secondary to sequlae of hypoxia etc.)
MONITORING: Periodic formal developmental evaluations throughout infancy and early childhood.
INTERVENTION: Infant stimulation should begin early. Other interventions as indicated by period developmental evaluations.
PROBLEM: CHONDROCRANIUM AND CRANIOCERVICAL JUNCTION
EXPECTATIONS: The skull base is clearly small, but little assessment has been documented. Structure suggests that ther may be risk for craniocervial junction compression with secondary hypotonia and/or abnormalities of central respiratory control. There may also be risk for cervical spine instability.
MONITORING: Survivors should have magnetic resonance imaging of the craniocervical junction. Plain xrays of the cervical spine (flexion, neutral and extension lateral views) should be completed in the first six months and, in general, about every 6-12 months thereafter.
INTERVENTION: If craniocervical compression is documented, consider suboccipital decompressive surgery. If there is severe c-spine instability surgical fusion may also be needed.
PROBLEM: TALIPES EQUINOVARUS
EXPECTATIONS: Clubfoot is virtually constant.
MONITORING:
INTERVENTION: Early initiation of passive range of motion and usual surgical intervention.
PROBLEM: SPINE
EXPECTATIONS: Scoliosis and kyphosis exceedingly common in survivors.
MONITORING: Clinical monitoring at each visit. Thoracolumbar spine xray should be obtained of progressive scoliosis or kyphosis is detected clinically.
INTERVENTION: Usual treatment. Note, however, that bracing may be problematic because of effects of respiration.
PROBLEM: HIP DISLOCATION
EXPECTATIONS: Common
MONITORING: AP and frogleg xrays in infancy.
INTERVENTION: Usual, nonsurgical orthopedic treatment is usually effective.
PROBLEM: RADIAL HEAD DISLOCATION
EXPECTATIONS: Exceedingly common. May result in limited elbow movement.
MONITORING: -
INTERVENTION: No treatment indicated.
PROBLEM: HEARING
EXPECTATIONS: This is an underdocumented but serious concern. Likely arises because of combination of structural aberrations of the internal ear and recurrent middle ear dysfunction, particularly in those wth cleft palate. May be significant contributor to speech and language delays in survivors.
MONITORING: Consider brainstem auditory evoked response testing in infancy. Periodic behavioral testing should begin by around 9 months of age.
INTERVENTION: Amplification (aids) should be fitted if structural basis of hearing loss is demonistrated. Middle ear abnormalities (infection, fluid) should be treated aggressively, including having a low threshold for myringotomy and tube placement.
PROBLEM: CLEFT PALATE
EXPECTATIONS: Present in about 1/3 of infants with this disorder.
MONITORING: -
INTERVENTION: Closure at usual time of general health status allows.
PROBLEM: CARDIOVACSULAR ANOMALIES
EXPECATIONS: Present in about ¼ of infants with this disorder.
MONITORING: Echocardiography and cardiologic assessment in infancy.
INTERVENTION: Usual medical management if anomalies discovered.
PROBLEM: RENAL ANOMALIES
EXPECTATIONS: May have congenital anomalies or acquired problems including secondary to vesicoureteral reflux.
MONITORING: Renal ultrasound in infancy, and probably yearly thereafter in survivors.
INTERVENTION: Usual medical management if problems identified.
PROBLEM: GASTROESOPHAGEAL REFLUS
EXPECTATIONS: Present in many.
MONITORING: By Medical history.
Intervention: May complicate feeding. May increase risk for aspiration in pulmonologically fragile infants.
PROBLEM: SEX REVERSAL
EXPECTATIONS: Many phenotypic females are found to be 46 XY. In females who have 46 XY there is a high risk of gonadoblastoma. Some 46 XY males have structural genital abnormalities.
MONITORING: Chromosomal evaluation.
INTERVENTION: Early gonadectomy in all 46 XY females.
GENETICS AND MOLECULAR BIOLOGY
Recently is has been discovered that Campomelic Dysplasia is caused by variably sized deletions ( or other changes) of the long arm of one chromosome 17. Such deletions either include or affect a locus called SOX9 which is crucial in normal sexual differentiation. Chromosomal assessment of the 17q region should be completed in all affected individuals since those with microscopically demonstrable deletions seem to be less severely affected and may have a better chance for long term survival. The SOX9 product also influences cartilage development and so it is conceivable that all of the phenotypic effects in Campomelic Dysplasia arise secondary ot the effects of haploinsufficiency at this single locus.
Recurrence risk is low, estimated to be 5% or less in subsequent pregnancies of couples who have had one affected child. That risk probably arises because of occasional germinal mosaicism in one or the other parent.
[NOTE:THE FOLLOWING SUMMARY OF THE NATURAL HISTORY OF CAMPOMELIC DYSPLASIA IS NEITHER EXHAUSTIVE NOT CITED. IT IS MEANT TO PROVIDE A GUIDELINE FOR THE KINDS OF PROBLEMS THAT MAY ARISE IN CHILDREN WITH THIS DISORDER, AND PARTICULARLY TO HELP CLINICIANS CARING FOR A RECENTLY DIAGNOSED CHILD. FOR SPECIFIC QUESTIONS OR MORE DETAILED DISCUSSIONS, FEEL FREE TO CONTACT THE MIDWEST REGIONAL BOND DYSPLASIA CLINIC AT THE UNVERSITY OF WISCONSIN – MADISON [ 608-262-9722: FAX – 608-263-3496; EMAIL – PAULI@WAISMAN.WISC.EDU]
MEDICAL ISSUES AND PARENTAL CONCERNS TO BE ANTICIPATED
PROBLEM: SURVIVAL
EXPECTATIONS: Most Infants with this disorder die, apparently secondary to respiratory insufficiency. Various factors contribute to those risks. (SEE BELOW) Many die in the first days of life, some over the course of the first year. Few of those who survive beyond the first year are free of severe sequelae.
MONITORING: Anticipatory guidance and counseling of the family.
INTERVENTION: In depth discussions with the family are essential, including consideration of generation of Advance Directive, copies of which should be placed at all clinics and hospitals where the infant may be cared for.
PROBLEM: RESPIRATORY PROBLEMS
EXPECTATIONS: Many factors contribute to severe respiratory risks. The chest of often markedly constricted. The airways are diminished in size and there may also be severe laryngotracheobronchomalacia. The mandible is often very small and subsequent retroglossia can cause upper airway obstruction. And there may be abnormalities of central respiratory control (central apnea) because of abnormalities of the cranial base. All may contribute to immediate neonatal risk of death and, in survivors, to long term sequelae.
MONITORING: Evaluation in survivors of the neonatal period should include: polysomnography, bronchoscopy in those with apparent sever airway involvement.
INTERVENTION: May include symptomatic management with oxygen supplementation, use of cpap or bipapa, tracheostomy as needed etc. Surgical chest expansion has not been shown to be of any benefit. Airway infections should be aggressively treated. Prophylactic treatment during RSV epidemics should be considered. Immunizations should be given, including Hemophilus and Influenza (using split dose split virus preparations in infant and vaccination of all household contacts.
PROBLEM: ANESTHESIA RISKS
EXPECTATIONS: Many infants may require surgery. Risks include those related to the airway and the cervical sine.
MONITORING: Cervical spine should be assessed for stability with plain lateral xrays. Flexible bronchoscopy should be done prior to intubagtubation.
INTERVENTION: Weaning and extubation need to be carried out cautiously.
PROBLEM: CENTRAL NERVOUS SYSTEM AND DEVELOPMENT
EXPECTATIONS: May have structural anomalies ( most commonly arhinecephaly). With or without structural aberrations survivors may show serious developmental abnormalities, with profound variability from survivor to survivor. It is not clear what contributes to developmental abnormalities (primary vs. secondary to sequlae of hypoxia etc.)
MONITORING: Periodic formal developmental evaluations throughout infancy and early childhood.
INTERVENTION: Infant stimulation should begin early. Other interventions as indicated by period developmental evaluations.
PROBLEM: CHONDROCRANIUM AND CRANIOCERVICAL JUNCTION
EXPECTATIONS: The skull base is clearly small, but little assessment has been documented. Structure suggests that ther may be risk for craniocervial junction compression with secondary hypotonia and/or abnormalities of central respiratory control. There may also be risk for cervical spine instability.
MONITORING: Survivors should have magnetic resonance imaging of the craniocervical junction. Plain xrays of the cervical spine (flexion, neutral and extension lateral views) should be completed in the first six months and, in general, about every 6-12 months thereafter.
INTERVENTION: If craniocervical compression is documented, consider suboccipital decompressive surgery. If there is severe c-spine instability surgical fusion may also be needed.
PROBLEM: TALIPES EQUINOVARUS
EXPECTATIONS: Clubfoot is virtually constant.
MONITORING:
INTERVENTION: Early initiation of passive range of motion and usual surgical intervention.
PROBLEM: SPINE
EXPECTATIONS: Scoliosis and kyphosis exceedingly common in survivors.
MONITORING: Clinical monitoring at each visit. Thoracolumbar spine xray should be obtained of progressive scoliosis or kyphosis is detected clinically.
INTERVENTION: Usual treatment. Note, however, that bracing may be problematic because of effects of respiration.
PROBLEM: HIP DISLOCATION
EXPECTATIONS: Common
MONITORING: AP and frogleg xrays in infancy.
INTERVENTION: Usual, nonsurgical orthopedic treatment is usually effective.
PROBLEM: RADIAL HEAD DISLOCATION
EXPECTATIONS: Exceedingly common. May result in limited elbow movement.
MONITORING: -
INTERVENTION: No treatment indicated.
PROBLEM: HEARING
EXPECTATIONS: This is an underdocumented but serious concern. Likely arises because of combination of structural aberrations of the internal ear and recurrent middle ear dysfunction, particularly in those wth cleft palate. May be significant contributor to speech and language delays in survivors.
MONITORING: Consider brainstem auditory evoked response testing in infancy. Periodic behavioral testing should begin by around 9 months of age.
INTERVENTION: Amplification (aids) should be fitted if structural basis of hearing loss is demonistrated. Middle ear abnormalities (infection, fluid) should be treated aggressively, including having a low threshold for myringotomy and tube placement.
PROBLEM: CLEFT PALATE
EXPECTATIONS: Present in about 1/3 of infants with this disorder.
MONITORING: -
INTERVENTION: Closure at usual time of general health status allows.
PROBLEM: CARDIOVACSULAR ANOMALIES
EXPECATIONS: Present in about ¼ of infants with this disorder.
MONITORING: Echocardiography and cardiologic assessment in infancy.
INTERVENTION: Usual medical management if anomalies discovered.
PROBLEM: RENAL ANOMALIES
EXPECTATIONS: May have congenital anomalies or acquired problems including secondary to vesicoureteral reflux.
MONITORING: Renal ultrasound in infancy, and probably yearly thereafter in survivors.
INTERVENTION: Usual medical management if problems identified.
PROBLEM: GASTROESOPHAGEAL REFLUS
EXPECTATIONS: Present in many.
MONITORING: By Medical history.
Intervention: May complicate feeding. May increase risk for aspiration in pulmonologically fragile infants.
PROBLEM: SEX REVERSAL
EXPECTATIONS: Many phenotypic females are found to be 46 XY. In females who have 46 XY there is a high risk of gonadoblastoma. Some 46 XY males have structural genital abnormalities.
MONITORING: Chromosomal evaluation.
INTERVENTION: Early gonadectomy in all 46 XY females.
GENETICS AND MOLECULAR BIOLOGY
Recently is has been discovered that Campomelic Dysplasia is caused by variably sized deletions ( or other changes) of the long arm of one chromosome 17. Such deletions either include or affect a locus called SOX9 which is crucial in normal sexual differentiation. Chromosomal assessment of the 17q region should be completed in all affected individuals since those with microscopically demonstrable deletions seem to be less severely affected and may have a better chance for long term survival. The SOX9 product also influences cartilage development and so it is conceivable that all of the phenotypic effects in Campomelic Dysplasia arise secondary ot the effects of haploinsufficiency at this single locus.
Recurrence risk is low, estimated to be 5% or less in subsequent pregnancies of couples who have had one affected child. That risk probably arises because of occasional germinal mosaicism in one or the other parent.
Saturday, October 18, 2008
Pumpkin Pickin' !
I took my three girls to AGA Farms huge pumpkin patch this week! We had such a great time! Zoe and Akela jumped out of the mini van as soon as we got there and darted straight over to the empty awaiting brown wagons. We carefully scrutinized over each pumpkin we came across checking for rot spots, splits and other various signs of a "not too good" pumpkin. Akela found a nice evenly round pumpkin ("no smooshed sides mommy!") with a good stem and she lifted it up and into the wagon with ease. It wasn't as heavy as it appeared to be! Zoe took a good bit of time searching for "just the right pumpkin" and after about a half hour hunt she spotted it. Heaving it into the wagon with with a "it's so heavy" look upon her face, Zoe was proud of her pick. Then of course we all wanted to get one for Sonya tailored to her size so that she could hold it. At the end of our journey through the patch just before we almost gave up and bought an already harvested one at the barn checkout, we saw it! Sitting in the shade in front of a sun blocking towering tractor just at the edge of the plot was the pumpkin that was just the right size for Sonya. Zoe plucked it up and handed it over to her sister and with a huge smile and giggle Sonya gladly accepted it and gave it a hug..... and then a lick! Oh!, babies just love to put everything in their mouths! Yuck! I hope there wasn't any lingering pesticides coating that cute little pumpkin after the last rain we had! After we weighed our pumpkins on the cow scale, purchased them and put them safely into the van, we headed over to the corn maze. The girls delighted over all the twists, turns and dead ends. It was a nice walk for mommy too, burning off calories for 45 minutes carrying 16 1/2 pound Sonya in her sling. Finally we found the exit and cheered "we did it!" Just before the ride home we took a quick peek at the emu strutting his stuff in the pen at the entrance to the farm. Not quite the size of an ostrich, he was still big enough to give Akela a scare as he menacingly stalked her at the fence. She stated that he smelled bad and that she wanted to take the pumpkins home NOW! Our pumpkins are keeping our pretty fall mums company on top of a bale of hay just outside our front door. I love how warmly welcoming it looks! I just have to remember to bring them in on Mischief Night! Check out our smilebox "Pumpkin Pickin'" album! Thanks for reading!
Friday, October 17, 2008
Sonya and Evan meet!
I met Jaime , mom to Caitlyn on POLP support group on Yahoo only a few months ago. I was and still am new to the LP community. My daughter Sonya is 9 months old and has one of the rarest types of dwarfism, Campomelic Dysplasia (CD). It is estimated that there are only 80 cases of CD in the USA. Searching for insight, support and for other parents whose children have dwarfism too, I came across the support group POLP (Parents Of Little People). In my very first post I introduced myself and Sonya and questioned if anyone lived in the Philadelphia PA area. The first and only response came from Jaime. Clear across the states in California, Jaime told me about a friend she had on Myspace. She lives in Bristol, PA, only an hour and 20 minutes south of our farm town, Quakertown, PA. Jaime messaged her and got the two of us in contact with each other via Myspace. We chatted online about our kids for a month or so and finally decided to meet up at a park inbetween the two of us in Doylestown. Monica and I hit it off right away! Having much in common, we had plenty to talk about as our kid's had a fantastic time climbing and running all about Castle Park. It was interesting comparing Sonya and Evan. Evan has Achondroplasia, the most common type of dwarfism. The two of them surprisingly have many physical differences. Their only common physical characteristics included bowed and shortened legs, a flattened nasal bridge and of course cuteness! I even managed to sneak in a few photos of Evan and Sonya together after Evan warmed up to her! Monica and I plan on getting together every month or so with the kids to hang out at the park. Special thanks to Jaime, my first POLP friend for being so thoughtful! Without you Monica and I may have never met!
My blog is coming along!
Ok... Background...check!...Some pictures....check!...Friend bloggers to follow...check! Literature substance?....Ummmm... Melissa is exhausted, it's 1:45am! Sorry, I'll have to fix that tommorrow! Goodnight!
Thursday, October 16, 2008
Melissa is officially blogging!
Ok... So this will be my very first blog post. It's short and sweet, basically just a test. Hi to everyone and hang in there for me as I will have this thing all tricked out with photos and what not soon! That's it... told ya...short and sweet! To be continued......
Friday, October 10, 2008
Lung Function Test
Friday, October 10, 2008 6:03 PM, CDT
Hi Everybody! I hope everyone is doing well and that you are all ready to enjoy the weekend! Sonya had her pulmonary visit yesterday and she had her infant lung function test. She did very well. I hovered over her during the entire 2 hour long test nervously, but when it was over and I was told that things were good I relaxed a bit! They gave her an oral sedation and after she dozed off they put her in what looked like an incubation chamber and attached a mask that went over her nose and mouth and then hooked up the oxygen hoses and monitor wires. The pulmonologist measured her lung capacity and how easily air could flow in and out of her lungs as well as a few other measurements and confirmed that all is good! He then gave her some abuterol and repeated the test, testing for asthma or allergies and again all was good and clear! She was a bit of a bugger coming out of the sedation, she kept on nodding off, but with some stimulation and sweet, yummy apple juice in a bottle she came around after about an hour after the test was over! The pulmonologist is going to check up with her again in 6 months.
As for everything else she is doing very well too! She is getting her third bottom tooth in, her hair is still growing out of control (it may be time for a haircut) and she has started to commando crawl! This is done by laying on her tummy and grabbing the carpet and pulling while her legs and feet drag behind. She also does a "snowplow" sort of move; laying on her belly she lifts her rear up in the air while keeping her head down with her hands in front and then scoots forward a bit as her toes push her and then she's back to laying flat on her belly again. It's quite cute! Although she is getting pretty good with these new moves, rolling remains her main way of transportation. She is eating almost 2 jars of baby food a day now and loves it! She has completely mastered "mama" and is working on "dada" and "hi" as she waves! She loves waving hi to everyone and she pats me on the back when I hold her as if she is soothing me, "eye eye mommy". It's too cute!
We just met an LP friend in the area. Evan is 3 years old with Achondroplasia (the most common type of dwarfism) and he is super cute! We met through a few friends and it turns out that he, his mom Monica and brother Adrian (4 years old) live pretty close to us, just down in Bristol. We set up a play date today at Kid's Castle Park in Doylestown and the kids had a blast. Akela enjoyed the park very much, Zoe was in school and missed it and someday I'm sure Sonya will get to run around there and enjoy it too! I'm sure as Sonya gets older he will be a great connection for her to have as Evan and her will be able to relate to one another about being little people (LP; dwarfism) and related issues! So, all is well here and I hope everyone is doing well too!
Hugs to all - Melissa and Sonya, yikes almost 9 months!
Hi Everybody! I hope everyone is doing well and that you are all ready to enjoy the weekend! Sonya had her pulmonary visit yesterday and she had her infant lung function test. She did very well. I hovered over her during the entire 2 hour long test nervously, but when it was over and I was told that things were good I relaxed a bit! They gave her an oral sedation and after she dozed off they put her in what looked like an incubation chamber and attached a mask that went over her nose and mouth and then hooked up the oxygen hoses and monitor wires. The pulmonologist measured her lung capacity and how easily air could flow in and out of her lungs as well as a few other measurements and confirmed that all is good! He then gave her some abuterol and repeated the test, testing for asthma or allergies and again all was good and clear! She was a bit of a bugger coming out of the sedation, she kept on nodding off, but with some stimulation and sweet, yummy apple juice in a bottle she came around after about an hour after the test was over! The pulmonologist is going to check up with her again in 6 months.
As for everything else she is doing very well too! She is getting her third bottom tooth in, her hair is still growing out of control (it may be time for a haircut) and she has started to commando crawl! This is done by laying on her tummy and grabbing the carpet and pulling while her legs and feet drag behind. She also does a "snowplow" sort of move; laying on her belly she lifts her rear up in the air while keeping her head down with her hands in front and then scoots forward a bit as her toes push her and then she's back to laying flat on her belly again. It's quite cute! Although she is getting pretty good with these new moves, rolling remains her main way of transportation. She is eating almost 2 jars of baby food a day now and loves it! She has completely mastered "mama" and is working on "dada" and "hi" as she waves! She loves waving hi to everyone and she pats me on the back when I hold her as if she is soothing me, "eye eye mommy". It's too cute!
We just met an LP friend in the area. Evan is 3 years old with Achondroplasia (the most common type of dwarfism) and he is super cute! We met through a few friends and it turns out that he, his mom Monica and brother Adrian (4 years old) live pretty close to us, just down in Bristol. We set up a play date today at Kid's Castle Park in Doylestown and the kids had a blast. Akela enjoyed the park very much, Zoe was in school and missed it and someday I'm sure Sonya will get to run around there and enjoy it too! I'm sure as Sonya gets older he will be a great connection for her to have as Evan and her will be able to relate to one another about being little people (LP; dwarfism) and related issues! So, all is well here and I hope everyone is doing well too!
Hugs to all - Melissa and Sonya, yikes almost 9 months!
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