Tuesday, December 25, 2007

Merry Christmas!!

Merry Christmas from our family to yours! This is Deigo's first Christmas and we feel blessed to have him in our lives.
Auguri di Buon Natale dalla nostra famiglia alla vostra! Questo e' il primo Natale per Diego e ci sentiamo davvero furtunati e felicissimi di averlo con noi.

Thursday, November 15, 2007

Ireland The Final Days

Day 7: The family visited Bunratty Castle. We never actually entered the castle grounds. Instead we visted the gift shop and had dinner at a nearby restuarant. Unfortunately we forgot the camera at the hotel so we have no pictures :(

Day 8: Trip back to Austin. We were upgraded to business class for the London to Chicago leg!! As you can see by the pictures, Diego took full advantage of the upgrade. He was so good during the trip home. It wasn't until the final flight into Austin that he started to fuss.

We were so glad to finally make it back to Texas. The trip was fun but we missed being home!

Random Photos:

Sunday, November 4, 2007

Ireland Day 6

So I know what you are thinking, what happened to Day 5? Well, it was bust. Dad worked most of the day as did Mama. It was a day spent at the hotel with no photos taken. Daddy vowed to make up for it on Day 6. So he searched tourist books for a destination. It had to be somewhere away from town, out in the country. He selected the town of Quinn.

Day 6: Quinn was over an hours drive from Limerick. So after the drive to Dell, the boys hit the highway. It was a beautiful day! The sun was out and the temperature was in the high 60s. Perfect for a drive in the country!

About 5 miles outside of Quinn is Knappogue Castle. That was the boy's first destination. The drive up the highway had the typical boring scenery. However exiting the highway to Quinn was another story. There were small roads lined with stone walls thru rolling hills of green pastures. We took plenty of photos but none captured the beauty being there in person. Upon reaching Quinn we followed the signs to the castle. The drive thru town was quick and took us past Quinn's Abbey. We decided to stop there on our way back. It took longer to reach the castle than expected but was well worth the drive.

Unlike King John's Castle, the grounds of Knappogue Castle are vast and surrounded with beautiful scenery. There is a gate near the main road that takes you down a smaller tree lined road to the castle. Reaching the parking area we realized we were the only tourists at the castle. It was hard to believe that such a beautiful place had no tourists. Later we ran into an older couple but for now, the castle belonged to the boys. We spent over 2 hours exploring the castle and its midieval garden. Diego had lunch in the garden. How many babies have lunch in a medievil garden!

Next stop was Quinn's Abbey. We drove back to town and parked at a pub near the Abbey. There was a narrow dirt path leading from the main road to the abbey ruins. It was at least 100 yards long and was not meant for strollers. It also had two stone walls with turn stiles. This meant Daddy had to carry the stroller and baby over both walls. We stayed about an hour taking photos then went back to the pub for a late lunch. After lunch the boys drove back to Limerick to meet Mama for dinner. This was by far the best day of the trip!

Saturday, October 6, 2007

Ireland Day 4

The goal of Day 4 was to visit King John's Castle. But first, the boys needed to drive Mama to work. So it was up early and down to the lobby. We didn't have directions which meant we needed to follow one of the other cars. That proved to be harder than expected. Traffic to the office was bumper to bumper. At times we would lose sight of the lead car. Losing them meant being lost so Daddy had to drive agressively to keep up. A matter made worse by the fact we were driving on the opposite side of the road in a car with a right side steering wheel. Several brushed curbs, 4 round-abouts and 40 mintues later we arrived safe at Dell. After a short stay the boys headed back to the hotel.

The ride back took longer than expected. However it wasn't long before the boys were back on the streets of Limerick. The weather called for gray skies with light showers. So before leaving the hotel they stopped by the front desk to pickup an umbrella. Having walked to the castle the day before, they were confident enough to leave the main road and take a short cut through a park. A light rain started just as they reached King John's Castle.

Once inside, the boys paid the entrance fee and were given a map. They stayed over 2 hours exploring the castle. They met a nice German couple that offered to take their picture on the castle wall (see below).

Upon leaving the castle the boys headed back to the hotel to rest. A few hours later they were back at Dell to pickup Mama and talk about the day's adventure. We all ended the day with a night time stroll through the city.
Castle Photos:

Tuesday, September 25, 2007

Ireland, Day 3

Day 3 started very early. It was Mama's first day at the Dell office. This meant Diego and Daddy would be alone all day. The boys planned to go back to King John's castle and St. Mary's Cathedral. This time with a camera in hand. So after accompanying Mama down to the lobby, we said our good-byes and she departed for the Dell office. The boys then went back to the room and had breakfast. Leaving the hotel turned out to be harder than expected. Probably due to Daddy's inexperience with preparing Diego for a day of site seeing.

It was lunchtime before the boys would make it out of the hotel. Unfortunately it was windy and pouring rain. Daddy had a hard time keeping the rain off Diego who was riding in the stroller. Most parents on the street had a plastic cover fitted over the stroller to protect their babies from rain. So the first task was to find and buy that cover. Daddy asked two sets if parents for information. The first couple responded with possibly the right information but Daddy couldn't understand a word they were saying. The second couple directed the boys to Mother Care baby store. Twenty minutes and 30 Euros later, they were back on the street. The cover worked wonderfully! Diego was dry and out of the wind.

By now the boys were hungry so it was off to the nearest restaurant. They both had a quick bite to eat (a bottle for Diego) and started towards King John's Castle. On the way they found a cool sports store and stopped to browse. Daddy came away with a very cool Limerick Sporting team polo. Once again they started for the castle. It wasn't long before Daddy stopped at another clothing store where he bought a nice sweater. With garments tucked under the stroller, the boys started for the castle once more. They had to pass the cathedral but opted to see the castle first. Finally arriving at the castle entrance, they were shocked to find the doors were locked. They were less than 5 minutes late for the last tour! They quickly turned around and headed back to the cathedral. They couldn't very well go back to the hotel without having accomplished a single tourist task. The cathedral is surrounded by a high wall with a single arched entrance. Entering the grounds, the boys made their way to the side door just passed the cemetery. There are two cemeteries, one in the front and one on the side facing the street. The cathedral was empty except for a man sitting at a small desk near the door. He was there to take our 2 Euro entrance fee. If you have never been to a European cathedral, you will no doubt be impressed with its architecture. Having been to many, Daddy was interested in its history. There is an area off the main hall where tourist can read important moments in the cathedrals history. It begins in the late 1100s and goes on to modern day Limerick.

After browsing and taking pictures, the boys headed back to the hotel. By this time the rain had stopped but it was still windy. Diego remained safe under his new cover. Back in the room Diego napped while Daddy watched the Motocross of Nations. Mama showed up at 6:15 PM with plans for the evening. We would meet other Dell folks in the lobby at 7 then head to an Indian restaurant not far from the hotel. This would be our first Indian restaurant that was not a buffet so we had a hard time figuring out what to order. We basically guessed and ended up with some good but very spicy food. After dinner we all walked back to the hotel where we parted ways in the lobby then it was back to the room. Day 3 had come to an end.

More Pics from the day:

Sunday, September 23, 2007

Ireland, Day 2

Day 2 started at a late 12 PM. The goal of the day was to see the Cliffs of Moher. Since it takes 30 minutes for the hotel valet to retrieve our car, we decided to go shopping at a store across from the hotel. Daddy and Diego just browsed while Mama did the real shopping. Forty minutes later we were in our Jeep making the 2 hr drive to Liscannor, a small town near the cliffs. The hotel staff provided printed directions to which Mama insisted we follow. Daddy decided to use his new GPS toy to plot the trip. It wasn't long before we came a point where the directions differed from the GPS. Daddy insisted we follow the GPS route. Five minutes later the GPS had us exiting the highway (N18) at a point where the exit was closed for construction. At that time Daddy decided to use the GPS to get back to the directions provided by the hotel staff. Despite the occasional rain, the drive was very nice. The scenery was rolling hills of green pastures dotted with small towns and farms.

It wasn't long before we reached the parking area near the cliffs. Just as we parked it began to rain. We had no umbrella so we decided to wait in the Jeep until it passed. Mama used the time to feed Diego and change his diaper. Lucky for us the rain passed quickly. We then packed up the stroller and made our way up to the cliff's edge. Wheel chair access made it easy for us to push the stroller all the way to the top. As we approached you could hear the ocean crashing against the cliffs. Once at the top we took in the spectacular view. Our photos do little to capture the feeling of standing at the cliff's edge. We took several pictures from different locations then retreated back to the exhibition center. The exhibition center was very cool. It had a restaurant, gift shop and an area with huge screens displaying photos and facts about the cliffs. We only stayed about an hour then drove back into Liscannor for lunch. There we found a traditional Irish pub where we had 'fish and chips' (very good) then headed back to Limerick.

Once back at the hotel, we went to the lounge where Daddy tried 3 different Irish Whiskys. All very good. We found out the lounge manager was from Italy (Mama's home country). They chatted in Italian and we all discussed our travels and experiences. It all ended at midnight when we retired to our room. Mama went to bed because she had to work at 9 AM the next morning (go to the Dell plant). Diego was wide awake so Daddy pushed him around the hotel in the stroller until he finally went to sleep. Soon he was followed by Daddy.

Saturday, September 22, 2007

Diego in Ireland!

After much anticipation, Diego's first overseas trip is underway. It started with a flight from Austin, TX to Chicago, IL. We had a very long 6 hour layover in Chicago followed by a 6 1/2 hour flight to Shannon, Ireland. Finally we drove our rental car from Shannon to Limerick which is where we'll be staying for the next 7 days. Diego has been a wonderful little traveller! He even received compliments for being "such a good baby" from other passengers.

We arrived at the Limerick Marriott at approximately 9 AM. The hotel here is very nice and in close proximity to shopping and many restaurants. Exhausted from the trip, we cleaned up and took a nap. By 3 PM we were out on the streets of Limerick. The plan was to get a few items we forgot to pack, grab something to eat then checkout the local scene. The weather was a pleasant 65 degrees and partly sunny. It was also a little breezy so we stopped at a local store to pick up a hat for Diego (pics coming soon). Later we stopped for lunch at an Italian Ristorante. After lunch Daddy used his Blackberry GPS to plot a 4 mile trek to King John's Castle, St Mary's Cathedral, Hunt Museum then back to the hotel. It was a nice little walk with plenty of shops to browse along the way. Some streets were paved with stone which made for a bumpy stroller ride but Diego took it all in like a seasoned world traveller, always sitting up to check out the new sites and sounds. Getting back to the hotel, Diego had a bite to eat and was soon fast asleep. His first travel day is nearly over. We'll have to see what the evening brings.

Friday, August 24, 2007

Eccoci qua!

Ciao a tutti amici e famiglia! Siamo mortificati per non avere scritto da oltre 2 mesi!!! Non ci sono scuse ma solo il fatto che siamo stati occupatissimi e a volte diciamo la verita' pigri :)

Dunque molte novita' da dirvi. Da dove iniziare...vediamo..ah..Diego e' andato in campeggio in Luglio con altri bimbi affetti da AMC - ha fatto nuove amicizie e mamma e papa' sono adesso in contatto con altri genitori con cui possono scambiare esperienze e consigliarsi sulle diverse terapie.

Siamo anche andati all' annuale Conferenza Nazionale per bimbi con AMC. Si e' tenuta in Arlington, Texas durante un fine settimana in Luglio - qui abbiamo incontrato famiglie venute da diverse parti degli Stati Uniti per scambiarsi informazioni su questa rara condizione e metodi di miglioramento. Qui abbiamo conosciuto Connor, un bimbo di 2 anni, che ha avuto 7 operazioni per migliorare le condizioni ortopediche causate da AMC. Tra le varie operazioni, Connor e' stato sottoposto al trapianto dei muscoli bicipidi e 'rilascio' dei gomiti...adesso puo' piegare le braccia da solo!!! La prima volta che Connor si e' messo le dita nel naso la sua mamma Amy l'ha immortalato con una miriade di fotografie!!! Amy ci ha dato il nome e telefono del chirurgo che ha operato Connor; si trova in Oklahoma City. Non abbiamo ancora fissato un appuntamento perche' Diego e' ancora troppo piccolo..hey in proposito...abbiamo festeggiato i 5 mesi il 5 Agosto con una bella festa e Diego e persino andato in piscina per la prima volta (adora l'acqua)...ma non appena Diego ha 8-9 mesi andremo a trovare questo chirurgo per vedere se Diego puo' sottoporsi allo stesso tipo di trapianto muscolare. Ecco una foto di Connor e Diego.

Abbiamo visto un medico da New York City di nome Van Bosse il quale ci ha consigliato di non aspettare ad operare i piedini di Diego come originariamente consigliati dal Dr. Birch ma di eseguire il 'rilascio' dei tendini il piu' presto possibile! Abbiamo un appuntamento con Dr. Birch il 6 Settembre...non vediamo l'ora di discutere le informazioni che abbiamo ricevuto dal Dr. Van Bosse. Abbiamo anche parlato con genitori di bimbi che hanno il problema dell'anca dislocata e tutti ci hanno detto di pianificare l'intervento il prima possibile. Parleremo al Dr. Birch anche di quello.

Altra novita' e' che abbiamo acquistato un appartamento a Dallas vicino all'ospedale Scottish Rite cosi' adesso non dobbiamo piu' stare in albergo ma possiamo ritirarci nel nostro piccolo bilocale - e' minuto ma carinissimo e perfetto per noi. Hey adesso vi possiamo ospitare in Dallas se doveste venire da queste parti :)

Ultimissima novita' e' che stiamo facendo il passaporto per Diego cosi' possiamo andare in visita in Italia. Mamma deve andare in Irlanda per lavoro a fine Settembre cosi' si e' pensato di approfitarne per andare a trovare i nonni e parenti a Milano. Se riusciamo a fare il passaporto in tempo papa', mamma e Diego andranno in Irlanda e poi in Italia insieme. Speriamo di farcela...vedremo.

Ah..proprio oggi ci ha chiamato il papa' del piccolo Lincoln (e' nato il 7 Febbraio 2007..solo 1 mese prima di Diego) ed e' anche lui affetto da artrograposi...ebbene Lincoln ha avuto la sua prima operazione questa mattina a Scottish Rite - siamo andati a visitarlo visto che siamo in Dallas questo fine settimana per la regolare terapia ai piedi e ginocchio - Lincoln ha avuto cio' che chiamato il 'rilascio' dei tendini in entrambi i piedini. Adesso ha un gesso sulle gambe che deve indossare per 6 settimane poi vedranno i risultati e determineranno se ulteriori gessature sono necessarie. Il medico ha gia' pero' annunciato a mamma Amy e papa' Larry che Linconl dovra' avere un altro piccolo intervento al piede sinistro in quanto oltre ai legamenti c'e un altro problema ma sicuramente risolvibile! Linconl era sveglio e vispo quando siamo andati a trovarlo...e' veramente sorprendente come questi bimbi reagiscono alle piu' difficile situazioni mentre i genitori sono un completo disastro!!! Ecco una foto di Linconl e Diego (prima dell'operazione di Linconl)

Questo sito e' per il papa' di Valerio, non riesco piu'; a trovare il tuo indirizzo mail ma quando siamo andati alla Conferenza ho domandato di bimbi con doppia anca dislocata e anche se controversia ancora esista sembrerebbe che i medici iniziano a consigliare di operare perche' a lungo termine si sono visti miglioramenti. Ecco un articolo che mi hanno dato http://findarticles.com/p/articles/mi_qa3794/is_200406/ai_n9425242
Spero che il papa' di Valerio legge questo messaggio :)

Saluti a tutti e un bacione grande da Diego :)
Promettiamo di aggiornare il sito piu' frequentemente :)) scriveteci se potete.

Thursday, June 14, 2007

Scottish Rite Update

We've been slacking on our updates to the blog and have been getting a lot of requests for more information. We apologize for not posting sooner. Indeed a lot has happened since our first visit to Scottish Rite Hospital in Dallas.

April 12th was our first visit to Scottish Rite. Upon meeting with the physicians and physical therapists, it didn't take long for us realize this was a special place. We felt they genuinely cared about Diego and wanted to do everything they could to make him better. It also felt good to finally meet people that knew more about Arthrogryposis then we did! Best of all they wanted to begin treatment immediately which is how our 1 day visit turned into a 2 week stay!! Of course we were not prepared for an extended stay but were willing to do whatever it would take to get Diego the best possible care.

The timing for our two week stay couldn't have been better. Mom was still on maternity leave and had two weeks remaining. Dad was worried that his job in Austin would require him to be without his family for two weeks. Instead, the management at his employer, Dell Inc, understood the situation and allowed him to work remotely the entire time. The final blessing came from the wonderful folks at Scottish Rite who provided us a room in the hospital free of charge. We couldn't have asked for more!
Diego's treatment began later that afternoon which was virtually the same everyday. Twice a day he had physical therapy and every afternoon we was fitted with custom leg splints. The splints were held in place with Velcro that came in several colors. Some days he was yellow, red, black, blue and so on. With matching outfits he was making quite the fashion statement.

By the end of 2 weeks, Diego showed great improvement while Mom and Dad were feeling ill from the effects of eating out everyday. We were both ready to go home but needed to decide on future treatment. We could either followup with a physical therapist in Austin or make the 5 1/2 hour drive every week to Scottish Rite. There's was no doubt we would stick with Scottish Rite.

Fast forward to today. Every Friday we make the 5 1/2 hour trip to Dallas. We've been doing this now for over 7 weeks. To help with work, Dad purchased a mobile networking plan that allows him to work remotely from the car. Mom is back to work and routinely takes conference calls during the trip. Our SUV has become our part-time office on wheels! It's hard at times but well worth it. Diego continues to respond well to treatment. So far we've gone from weekly soft cast to hard casts then back to soft casts and now splints. Most of the work has been focused on his legs and feet. On June 14th we will go back to Dallas to meet with the hand team at Scottish Rite. We've been told he will see the best had surgeon in the world. We look forward to meeting the team and feel blessed to have access to such accomplished physicians and staff.

We'd like to say Thanks to our friends and family for all your support. A Special thanks to Ian Benoist and Micheal Clark, Dad's managers at Dell. You guys have been great!

Wednesday, May 23, 2007

Diego Photos

Here are some past and present photos of Diego

Sunday, April 29, 2007

Mamma torna al lavoro!

Lunedi' 30 Aprile 2007, Diego ha esattamente 8 settimane e oggi mamma torna in ufficio! Maternita' negli Stati Uniti e' solo 2 mesi ... fortunatamente la nonna paterna e' qui e si prendera' cura di Diego visto che non vogliamo mandarlo al nido...almeno per ora.
Diego ha entrambe gambe e piedi ingessati. Andremo a Dallas tutti i venerdi' per le prossime 6-8 settimane a cambiare il gesso.
Diego pesa 4.4 Kg ed e' lungo 56 cm. Inizia a fare smorfie e suoni strani con la bocca...sembra avere un bel caratterino :)

Wednesday, April 18, 2007

Prima visita all'ospedale Scottish Rite di Dallas

Mercoledi' scorso siamo arrivati a Dallas con grosse speranze per Diego. La prima visita con la squadra di medici ortopedici all'ospedale Scottish Rite e' stata Giovedi' scorso alle 8:00 precise. Scottish Rite e' un centro specializzato in ortopedia per bambini da 0 a 18 anni.
Il primario che ha in cura Diego si chiama Dottor John G. Birch. Questo medico e' uno dei pochi negli Stati Uniti che ha considerevole esperienza con neonati affetti da artrogriposi. Dottor Birch e' affiliato con l'Associazione degli Studi e Metodi Applicativi di Ilizarov in Italia (ASAMI-Italia); qui la sua biografia http://www.tsrh.org/m_orthopedicsstaff.cfm#birch sul sito dell'ospedale.

Dopo aver pesato e misurato Diego...quel giorno pesava 3.8 Kg ed era lungo poco piu' di 50 cm...due medici collaboratori del Dottor Birch hanno visitato Diego e analizzato attentamente le radiografie, ecocardiogrammi, e altri risultati di esami effettuati a Diego praticamente dalla nascita che abbiamo portato con noi a Scottish su richiesta del Dottor Birch.
Dopo di che' i medici si sono ritirati per consultare tra di loro e rivedere i dati con il primario.
Nel frattempo Diego ha incontrato altri membri del personale, includendo infermiere specializzate, terapisti fisici e occupazionali; fra questi voglio menzionare Heather la quale ci ha messo in contatto con altre famiglie che hanno bimbi affetti da artrogriposi e che vivono nelle nostre vicinanze. Heather ci ha anche invitato a partecipare ad un evento chiamato "Camp Just Like Me" che si svolgera' dal 20 al 24 Giugno a Peaceable Kingdom (il Regno della Pace) per bambini da 5 a 18 anni di eta' affetti da artrogriposi http://www.peaceablekingdomretreat.com/custom/summer_program.html
Naturalmente Diego e' troppo piccolo per partecipare a questo tipo di vacanza estiva, ma i bambini di eta' inferiore a 5 anni e i loro genitori sono invitati a spendere un giorno insieme ed incontrare gli altri bambini piu' grandi e genitori. Noi pensiamo di andare ma ne riparleremo piu' avanti...ritorniamo a Giovedi' scorso...

...finalmente verso mezzogiorno Diego incontra Dottor John G. Birch e i suoi collaboratori! Un'occhiata veloce a Diego dalla testa ai piedi e ci viene data una dettagliata descrizione delle caratteristiche riscontrate in Diego e severita' di ognuna. Come precedentemente diagnosticato dal medico genetico in Austin ci viene data conferma che Diego e' affetto da Amioplasia che e' il tipo piu' comune di Artrogriposi. Allego un articolo degli studi effettuati da genetisti famosi americani e statistiche sui casi studiati...come potete notare non molti... http://www.aidweb.org/articoli_detail.asp?IDRecord=97

Ad ogni modo, su raccomandazione del Dottor Birch, andiamo al quarto piano a visitare la sala dove Master Physical Terhapists (MPT) si prendono cura dei piu' piccoli con problemi agli arti inferiori. Da qui' ci suggerisce di passare le prossime 2 settimane a Scottish Rite di modo che Diego possa essere sottoposto a Terapia Fisica Intensiva degli arti inferiori da esperti terapisti con esperienza con questa rara patologia, e analizzato da un gruppo di esperti degli arti superiori. Detto e fatto! Il giorno dopo Venerdi, siamo rientrati ad Austin per sistemare Rocky (il cane) da amici, fare la biancheria e praticamente rifare le valigie per tornare indietro a Dallas il Lunedi' mattina. Da notare che mamma e' ancora in maternita' (rientra al lavoro il 30 Aprile) mentre papa' Joseph ha richiesto ed ottenuto di poter lavorare remotamente cosicche' entrambi possono seguire le cure e i progressi di Diego!

Diego ha due appuntamenti giornalieri con le terapiste; le tecniche usate sono una combinazione di gessature leggere, 'taping' o fasciatura (tecnica importata dalla Francia) e naturalmente tanta ma tanta terapia fisica che include esercizi e massaggi. Inoltre, domani verra' sottoposto a iniezioni di Botox sul muscolo quadricipide destro per consentire ai terapisti di piegare piu' facilmente il ginocchio e portare la rotula nella corretta posizione. La malformazione ai piedi di Diego sono stati categorizzati di livello severo (in scala da 1 a 20, il piede destro e' 15 e il sinistro 16). Domani abbiamo appuntamento con la Dottoressa Marybeth Ezaki e i suoi collaboratori specializzati nel trattamento degli arti superiori, mani in particolare - qui la biografia http://www.tsrh.org/m_orthopedicsstaff.cfm#ezaki

Scriveremo di nuovo nei prossimi giorni con le altre novita' - aggiungeremo anche delle nuove foto (oggi non c'e' proprio tempo)...ah quasi dimenticavo - Diego oggi pesa 4Kg giusti! Il pupo cresce ed e' un buon segno.

Sunday, April 8, 2007

Prayers Heal the Heart

On April 6th we took Diego to see his cardiologist, Dr. Patt. Diego first met the doctor while in NICU. It was there following an echocardiogram that he was diagnosed with VSD. At that time a decision was made to wait 4 weeks to allow his heart to mature. We would then perform another heart scan to determine how to proceed with treatment. Until then any surgeries to correct his limb contractures would have to wait so this particular visit was very important to us.

The meeting with Dr. Patt began with a summary of what he found in the earlier scan. It was during that meeting that Dad asked if the hole in Diego's heart could close on it's own. According to Dr. Patt, holes in this location do not typically close on their own and require surgery. Shortly after our initial visit, we moved to the ultrasound room for his echocardiogram. The procedure lasted about 20 minutes during which Mom helped to keep Diego calm while Dad looked over the radiologist's shoulder. Having seen countless heart scans up to this point, Dad knew where to look to find the hole. However this time he was having trouble locating it. He asked the tech where it was but did not get a response. He figured the tech did not hear the question and decided not to bother him any further. Following the procedure we moved back to the exam room to wait for Dr. Patt's review of the results. It seemed like forever before he finally showed up with the news. Diego's heart had healed on it's own!! His VSD was gone!!

We feel truly blessed that our prayers and those of friends and family have been answered. Now we can prepare for our visit to Scottish Rite and focus on his orthopedic treatment.

Saturday, April 7, 2007

Buona Pasqua

Finalmente delle buone notizie! E' con grandissima gioia che comunichiamo a tutti che Diego ha passato il controllo cardiologico a pieni voti. Ieri siamo andati a fare un altro ecocardiogramma e il dottore ci ha informati che, come sperato, il difetto al setto ventricolare (praticamente un buco nel muro ventricolare del cuore) si e' chiuso da solo! Il cardiologo aveva predetto questa come una possibilita' anche se non la piu' probabile. Il chirurgo ortopedico, Dottor Prince, aveva dubbi nel pianificare le operazioni chirurgiche correttive per Diego, proprio per le condizioni instabili del cuore e i rischi sottoposti dall'anestesia. A questo punto i rischi sono fortemente diminuiti e possiamo concentrare le nostre energie unicamente sul trattamento ortopedico includendo possibili interventi chirurgici.

La settimana prossima andremo all' ospedale Scottish Rite in Dallas dove un gruppo di dottori altamente specializzati in ortopedia infantile e con esperienza nel trattare bambini con artrogriposi faranno un controllo completo alle condizioni del Diego e ci guideranno sui possibili trattamenti e tempi di esecuzioni.

Vi terremo aggiornati sui risultati della visita a Scottish Rite. Nel frattempo ne approfittiamo per augurare a tutti una serena e gioiosa Pasqua. Carissimi abbracci da Diego, Joseph e Romina.

Wednesday, April 4, 2007

Knee Ultrasound Day

Today Diego had his left knee ultrasound performed at Dell Imaging center at Austin's Children Hospital. His Orthopedic surgeon, Dr. Prince, met us at the clinic to view the results. Earlier that morning we removed his soft cast while at home. Being a soft cast it came off pretty easy. We just unraveled it like you would a roll of tape. Only in this case it is 2 inches wide and looks like burlap. The results showed his knee is in a good position to continue casting but we decided to leave the cast off until he meets with the doctors at Scottish Rite Hospital. We will decide how to proceed following their evaluation.
The day before Diego met with Cindy his physical therapist. It was his first full session with her. Together they worked on the stability ball and did various stretching exercises. We learned a lot and will be working with him everyday at home.

We are all set for his trip to Dallas. We reserved a hotel near the hospital and will be staying for two nights. While in Dallas he will meet his grandmother for the first time (Dad's mom). She will accompany us back to Austin and will care for Diego during the day when mom goes back to work.

Wednesday, March 28, 2007

Accpeted to Scottish Rite Dallas

Great news! Today we received an acceptance letter from Scottish Rite Children's Hospital in Dallas Texas. It is one of the leading pediatric centers for the treatment of orthopedic conditions and certain related neurological disorders. There is no charge to patient families for treatment, and admission is open to Texas children from birth to 18 years of age.

Diego will meet with the orthopedic team on April 12th at 8:15 AM. We plan on driving up the day before and will stay at a nearby hotel. We are very excited that Diego has been given the opportunity to be treated by some of the best orthopedic physicians in the nation.

Diego is now 3 1/2 weeks old and is a joy to be around. We just love holding him and watching all his little facial expressions. They go from smiles to frowns in a matter of seconds. He is very alert and usually has his big beautiful eyes open to survey his surroundings.

He recently got a new swing thanks to a Baby's R Us gift card provided by Dad's team members at Dell. Thank you for the great gift!! He uses it daily to relax and watch mom run around picking up after Dad and Rocky ;)

PT started

Hi everyone! It has been a while since our last post...we have been busy busy busy and only now finally got some time to post a status of Diego's treatments.

We have setup his physical therapy and started meeting with Cindy Lewis a Senior Physical Therapist associated with the Children's Hospital of Austin. She is the same PT who saw Diego while in NICU on his first week of life.

During our first visit in her outpatient rehabilitation office, Cindy completed a mobility assessment which result was pretty good if compared to the first assessment conducted while in NICU. Diego's ROM (Range Of Motion) has improved although still a lot of work is required. He responded well and tolerated much better the motor development activities that Cindy put him through.

She gave us some instructions on how to help Diego with the stretching of his back and his continue development/learning of alternative prone positions. Arm exercises, including shoulder flexion/rotation, elbow and wrist flexion/extension are also a daily routine that we need to continue to do.

We have discussed the opportunity to start treatment of Diego's hands via splinting; Cindy will consult with Dr. Prince (Diego's orthopedic) and a couple of OT's to determine if splinting is an option at this early age (Diego is 3 weeks and 2 days old!).

Tomorrow morning we have an appointment with Dr. Immken (Genetics) and Friday we will see Dr. Prince again for a new cast. During our last visit we have shared the concern for atrophy of Diego's right leg's muscle due to the re-casting procedures. Dr. Prince suggested to have an ultrasound of the knee to evaluate if casting has been producing good results - if not, we will stop casting and re-evaluate for an alternative approach such as surgery or splinting. We have an ultrasound appointment scheduled for next Wednesday at the Children's Hospital.
Our next PT appointment is next Tuesday - for now, Diego will work with Cindy once a week but we will increase the number of PT visits per week in the future if necessary.

I want to thank the many people who wrote us during the past week; both Joseph and I have been overwhelmed by the kindness and support shared by family, friends and co-workers - even people we barely know have sent us offers for help and words of encouragement. Thank You!

Tuesday, March 20, 2007

Back to Milano

Last Monday grandpa Leo and grandma Elda left to go back home. We took them to the airport in the morning and let me tell you it wasn't easy to say goodbye, except for Diego, who slept for the entire time! Monday was also the first day back to work for dad...so Diego and mom have been spending a lot of time alone...bonding :)

We'd like everybody to know that overall we are doing great. Diego is about to start physical therapy and we are re-casting his right leg (3rd time) on Friday. We have been referred to the Scottish Rite Hospital in Dallas by Diego's orthopedic-pediatrician for a more detailed dignosis - the process is a little slow…she is telling us that they won't contact us before 3-4 weeks. Anyway, we can't wait to take him up there and make sure we are doing everything possible to improve his limbs and long-term mobility.

We want to thank from the bottom of our hearts all of you for being so supportive and for keeping Diego in your prayers.

Per chi parla Italiano...
Lunedi' scorso abbiamo salutato i nonni Leo e Elda che sono rientrati a Milano benche' e' stato difficile per loro dire arrivederci al Diego!
A fatica, ma anche il papa' Joseph e' rientrato al lavoro questa settimana. Sembra un po' uno zombi al mattino :) perche' inmancabilmente si sveglia di notte a controllare che Diego stia bene.

Per la maggior parte del giorno (e notte) Diego e mamma stanno cercando di ristabilire una routine accettabile ad entrambi anche se per il momento sta depravando mamma visto che non ha ancora capito come fare pisoli di 2 ore mentre Diego dorme!!!

Ad ogni modo, le cose vanno piuttosto bene, oggi sentiamo la fisioterapista e venerdi (domani) abbiamo appuntamento con la pediatra e l'ortopedico per cambiare il gesso alla gamba (3zo).
La grande novita' e' che l'ortopedico ci ha messo in contatto con un centro specializzato in Dallas chiamato Scottish Rite Hospital dove porteremo Diego per ottenere un'altra diagnosi un po' piu' accurata. Ci vorra' qualche settimana per organizzare la cosa ma siamo fiduciosi che questa equipe' di medici specializzati ci consentira' di determinare trattamenti sucessivi e specifici per il nostro caso.
Cogliamo nuovamente l'occasione per salutare e ringraziare tutti gli amici e i parenti che tifano per noi dall'Italia e continuano a scriverci e ad esserci vicino. Grazie di tutto cuore.
Romina & Joseph

Sunday, March 18, 2007

Qualche info sulla diagnosi di Diego

Ciao a tutti in ascolto. Baby Diego sta lentamente abituandosi alla sua nuova casa con mamma e papa'. Mangia, anche se a volte a fatica, e dorme come un angioletto.

Oggi volevo darvi un po' piu' di informazioni sulla condizione salutare che probabilmente non molti di voi hanno sentito nominare in precedenza. Papa' Joseph ed io eravamo completamente all'oscuro dell'esistenza di questa rara patologia ma pian piano stiamo diventando piu' informati e sicuramente diventeremo degli esperti in poco tempo...

Diego ha cio' che sia chiama Artrogriposi. Solo un bambino su 3,000 nasce con questa rara disfunzione.

Voi vi chiederete: che cos'e' l'artrogriposi? L'artrogriposi รจ la fissazione prenatale delle articolazioni in flessione (contrazione). Quando si verifica una fissazione generalizzata delle articolazioni alla nascita, la malattia si definisce artrogriposi multipla congenita (AMC).

Lo sviluppo delle articolazioni si verifica durante il II mese di gestazione, e i disordini che impediscono i movimenti in utero (malformazioni uterine, gravidanze multiple, oligoidramnios) possono determinare artrogriposi.

Su Internet potete trovare una miriade di informazioni sull'artrogriposi; qui c'e' un sito dove danno una buona introduzione di cosa e' e come si cura. Per chi e' interessato a saperne di piu'...


Nel caso di Diego, nei primi 2 mesi di gravidanza il medico ha riscontrato la presenza di grossi fibromi nel mio utero. I fibromi, anche se alcuni medici lo escludono fortemente, possono essere stati la causa di impedimento dei movimenti in utero per Diego. Se volete sapere di piu' sui Fibromi ecco qui un buon sito:


Stiamo ancora ricercando altre possibili cause, ma per il momento questa e' la spiegazione piu' plausibile. E ad ogni modo, qualsiasi sia la causa, di certo non cambia il fatto che il Diego avra' bisogno di molte attenzioni mediche per, probabilmente, il resto della sua vita. Anche se le sue articolazioni non funzioneranno mai al 100% come le mie e le vostre, le possibilita' di migliorare le funzioni motorie sono enormi specialmente se la fisioterapia e le manipolazioni ortopediche iniziano durante i primi mesi di vita.

Papa' e mamma faranno tutto il possibile per accertarsi che il piccolo Diego sia in cura con i migliori medici che possiamo trovare e riceva i trattamenti idonei ai suoi bisogni. Siamo gia' al secondo gesso sulla gambina destra...e pensare che Diego e' nato solo 2 settimane fa' !!!

Vogliamo ringraziare di nuovo tutti coloro che ci hanno scritto mandandoci parole di sostegno, e messaggi di auguri e incoraggiamento. Come potete immaginare noi siamo fortemente impegnati in questo viaggio del piccolo Diego e le vostre preghiere e parole di supporto sono e saranno sempre di benvenuto.

Continueremo a tenervi informati sui progressi e i trattamenti. La mamma :)

Friday, March 16, 2007

AMC Support Website

Today we registered with http://www.amcsupport.org/ It is a place were families can find and share information about Arthrogryposis. We plan on attending their upcoming convention which will take place July 12th - 15th in Arlington just 2 1/2 hrs drive from Austin.

Thursday, March 15, 2007

Time to see the Doctor

Diego has been home 2 days now and we have enjoyed learning to be parents. His first night home we got very little sleep thanks to the hospital's rigid eating schedule. We made it thru the night but by morning we were pretty worn out. The second night went much better. He slept from 11:30 pm to 5:30 am. When he woke up he was very hungry and ate all his breakfast. During the day he was either sleeping or eating and did not fuss at all.

Today was Diego's first outing with mom and dad. It was to meet his Pediatrician at 10 am and his Orthopedic Surgeon at 2 pm. The meeting with his Pediatrician, Dr. Karen Haslund, went well but at times we found it emotionally difficult to discuss the reality of his condition. She was very patient and assured us he would get the best possible care.

The meeting with his Orthopedic Surgeon, Dr. Michelle Prince, gave us hope that Diego's condition could be greatly improved. Though she offered no guarantees, her optimism really made our day. She also removed Diego's cast and replaced it with a new one. A process she will repeat every week. Each time bending his leg at the knee a little more to help stretch the muscles and joints. She plans to focus on his right knee, his feet then his hips in that order. She also told us that x-rays revealed he has a dislocated left hip. Treatment to correct the hip will begin after initially addressing his feet. Most likely after serial casting is done since it will take 3 years to correct this feet. To correct his hands she provided a referral to "the best hand surgeon in the world" who is located at Scottish Rite hospital in Dallas. The hospital is one of the leading pediatric centers for the treatment of orthopedic conditions and certain related neurological disorders. She also recommended we have their neurological team perform Diego's muscle biopsy and wanted us to consider having them lead all aspects of his treatment. Essentially moving his treatment to Dallas which will require a lot of driving for mom and dad. Of course we want the best for our little boy so we will do whatever it takes to see that he gets it.

Overall Diego's first day out with mom and dad was a huge success! It involved long waits, several diaper changes and a feeding all of which were executed flawlessly. He really his a good little boy and we thank god for bringing him into our lives.

Tuesday, March 13, 2007

Diego comes home!!

Let us begin by saying we are totally exhausted! Our night in the Rooming-in room went extremely well for Diego. As for us, we were up every 3 hrs for at least 1 hr all night. At each feeding we recorded the amount of milk he drank, weighed his dribble bibs using a digital scale to figure what he lost, changed his diaper, burped him, took his temp and put him back to sleep. It was rough but well worth the result. At 5:30 am Diego's NICU nurse came into the room to take his weight. He gained over 2 oz while under our care! Words can not express our level of happiness knowing that Diego was finally coming home! All that was left was 10 am meeting with his physical therapist. She met us in the room and taught us how to stretch Diego's contracted joints. Something we needed to do this daily to increase his range of motion. Following the PT meeting Diego was moved back into NICU and we moved out of the room and put our things in the car. We went back up to discharge Diego but were told he still needed a hearing test and his nurse was busy working with other babies. We would have to wait another hour! We decided to have a late lunch at a nearby restaurant to pass the time.

On return we parked at the main entrance reserved for patient pickup. We then made what we hoped would be a our last trip to NICU. We met his nurse 'Maria' and she went thru the discharge checklist. Finally we put him in his car seat and were escorted out the main entrance. Maria made sure his seat was securely in place, gave Romina a hug and we headed home! Finally!!

On the ride home we had to make an abrupt stop causing us to lock up the brakes to avoid hitting another car. It startled Diego and scared us pretty good. The remaining ride went well but very slow.

We finally made it home at about 6:15 pm. Diego's grandparents visiting from Milan, Italy were inside preparing dinner. We never told them he was coming home because we wanted it to be a big surprise. As we walked thru the door we were greeted first by Rocky(our Yorkie) then Diego's proud grandparents. It was a wonderful homecoming for out little boy! Life was starting to feel normal again.
We want to thank all the doctors, nurses and staff at Seton for taking such wonderful care of Diego. Special thanks to Nurse Jeannie who's care and compassion always made things a little better. Also to Nurse Davika for her wonderful support during our last night in NICU and finally to Dr. Hodges who will always have friends in Milan. Let us know when you go back to visit!

Monday, March 12, 2007

Preparing to Come Home

Since having his feeding tube removed, Diego continues to eat well and is gaining weight. We are now starting to feel like he will be coming home soon. It is a wonderful feeling! These last 7 days have been an exhausting and frustrating experience and all we want to do is take our baby home! Before we can do that we need to spend a night in the 'Rooming-In' room. This is a room just outside the NICU where babies can stay overnight with their parents. We will stay there 1 night keeping a log of Diego's feedings, potties and body temperature. This is the last major test before taking him home. If we show that Diego can eat and gain weight while under our care he will most likely be released the following day. So tonight at 7:30 pm we will move into the Rooming-In room and spend our first night together as a family.

Earlier today Diego passed his 'Car Seat' study with flying colors. It was a test to see if he can remain in his car seat for the duration of the ride home without experiencing breathing problems. It was all done in the NICU where the nurse strapped him in and put an oxygen lead on his foot. He slept the whole time without the slightest problem :)

Sunday, March 11, 2007

Ai Cugini e Zii in Italia!

Questa nota speciale e' indirizzata a i miei cugini e zii Italiani.

Vi ringrazio tutti di cuore per i messaggi di benvenuto e anch'io come voi non vedo l'ora di incontrarvi presto. Mando un bacio grande a Silvia, Alessandro, Mattia, Simone, Marco e Beatrice.

Mi hanno finalmente tolto il tubicino che andava dal nasino allo stomaco e che mi serviva per mangiare. Ho imparato a fare da solo! Il che significa che se continuo a fare progressi nei prossimi 2-3 giorni mi manderanno a casa con mamma e papa'. I nonni Elda e Leo sono ancora qui ma dovranno tornare in Italia il 19 Marzo. Spero di riuscire ad essere a casa in pochi giorni e poter passare un po' di tempo con loro prima che partino.

Carissimi cugini e zii (e chiunque altro in lettura...) mi potete scrivere alla mia email personale diego@houndheaven.com - il papa' mi legge la posta tutti i giorni!!!!

Grazie di nuovo per tenermi nei vostri pensieri e preghiere. Diego

Saturday, March 10, 2007

Look Mom & Dad, I'm eating!

Diego's eating has improved so much that today his feeding tube removed! He now eats solely from a bottle :) That is especially good news because his lack of eating is why he was placed in NICU. If he keeps up the good work, he will be home by the middle of next week..so we hope. Mom and dad remain here at the hospital in room 735. We go upstairs to NICU every few hours to feed and change Diego's diaper. We are so happy that Seton has provided us a room to be near our baby boy. Thank you so much!

Friday, March 9, 2007

Discharge Day for Romina

Today Romina was cleared for discharge. Unfortunately Diego will remain in NICU until he is able to drink 50ml of milk every 3 hours for 2 days in a row. There are exceptions to the rule but that is the norm. Although Romina will be officially discharged this afternoon, we are keeping the hospital room to remain near Diego. The room was provided to us thru Seton's Nesting program. It is a service that provides rooms to Parents with children in NICU. It is dependent on space so if the Labor & Delivery area fills up we will have to leave. Our other option is to stay across the street at the 'League House'. It is similar to Nesting but is off campus and charges a small fee of $15 per night.

Earlier today Diego had his blood drawn for another genetic test. This one is called Fish-22. It is a marker that checks for his ability to metabolize calcium. Good results are expected. They just want to make sure and check for everything. The doctors and nurses here at Seton have been really wonderful! We really appreciate their professionalism and the excellent care they are providing to Diego.

Thursday, March 8, 2007

Il mio Primo Trattamento Ortopedico...

Ciao a tutti. Oggi ho iniziato il trattamento ortopedico alla gambina destra. Mi hanno messo un semi-gesso che sara' sostituito una volta a settimana per almeno 8 settimane consecutive. Il dottore dice che il mio ginocchio ha bisogno di attenzioni speciali in quanto e' uno dei punti che richiedara' piu' tempo a sistemarsi.
La patologia malformativa congenita di cui sono stato diagnosticato ha dei vantaggi...e si, mamma e papa' sono sempre qui e tutte le belle infermiere vengono a vedermi e non vi dico quanti baci e carezze che ricevo da tutti!!!!
Quasi dimenticavo, finalmente mamma e' riuscita a portarmi un po' di latte materno...nonno dice che erano 3 giorni che provava senza risultati...ma finalmente questa mattina e' riuscita ad accumularne 15 ml. Naturalmente ne ho bisogno di molto di piu' ma se vedete la mia mamma ditele che ne apprezzo ogni goccia!

MRI Results & Orthopedic Treatment Begins

Good news! Today we received the unofficial results of the MRI scan. It was considered unofficial because it was presented verbally and not yet written up by the Neurologist. The scan did not show any brain or nervous system abnormalities. That was a huge relief to hear because doctors were concerned that his brain or nervous system was unable to communicate to his muscles. These results mean Diego is 100% mentally intact. He just has a few twisted limbs ;) Speaking of which, he received the first soft cast on his right leg. Eventually both legs will go thru weekly cast changes but for now they are concentrating on the one that needs the most work. Later additional work will be done to straighten his hands and arms.

This evening Diego drank nearly 50 ml of milk thru a bottle! That's 45 ml more than yesterday! We are praying he will continue to make good progress so he can go home when Mama is discharged on Friday. We are so proud of our little Diego!

Wednesday, March 7, 2007

Learning How to Eat

Diego is still in ICU and slowly learning how to eat on his own. He still has a ways to go before he can move back into the room with mom. So every three hours she will leave her room on the 7th floor and go up one floor to NICU to feed Diego. Up to now he has only been able to drink 5 ml of milk on his own. He needs to take in 50 ml so the remaining milk is given thru the feeding tube.

This morning a representative from the March of Dimes stopped by to evaluate his condition and provide information about the organization. He was also visited by a Geneticist, Neurologist and his Pediatrician. He has become quite popular with the staff and it seems a new doctor is added to the list everyday. So far he has been assigned the following 6 specialists:
  • Cardiologist
  • Neurologist
  • Geneticist
  • Pediatric Orthopedic Surgeon
  • Neonatologist
  • Radiologist

Today his Neurologist requested a MRI of Diego's brain to check for nervous system defects. It was scheduled for 2:30pm so we may not get the results today. He also wants to take a muscle biopsy to check for muscular disorders but he is too young for the procedure.

We want to thank everyone for their caring emails, prayers and flowers. All are greatly appreciated!

Tuesday, March 6, 2007

Diego is born!

We are proud to announce the birth of Diego Tonelli-Nova. He was born via c-section at 12:11pm on March 5th at Seton Hospital in Austin, Texas. Despite having been diagnosed with a ventricular septal defect while in utero, Diego showed no signs of distress and was a wonderful shade of pink which indicated he had good blood circulation. Additional tests showed his blood oxygen level to be at 100%. Although we were happy to see indications that his little heart was beating normally, we waited for the results of his planned echocardiogram before feeling he was out of the woods. The exam was performed by a cardiologist within 30 minutes of his birth. Thankfully the results showed his condition was not life threatening and could be surgically corrected once he turned six months old. Unfortunately this is where the good news ended. Looking at Diego we could see something was clearly wrong with his arms and legs. That something was later diagnosed as Arthrogryposis Multiplex Congenita. It is a condition that affects the joints and muscles of the arms and legs. It can also affect the tongue preventing babies from eating on their own as is the case with Diego. When it was clear that he was having difficulties eating, he was moved to Intensive Care and a feeding tube was inserted thru his nose and into his stomach. By this time was only 22 hrs old. As of this writing Diego is still in NICU. Romina is doing well and will require extra care which will keep her in the hospital until Friday. We apologize to everyone for not messaging out the details of Diego's birth sooner. The events over the last 24 hrs have been emotionally overwhelming and we know this is only the beginning. Please check back for updates on Diego's condition.